Incidental Mutation 'R0243:Ankhd1'
ID |
37928 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankhd1
|
Ensembl Gene |
ENSMUSG00000024483 |
Gene Name |
ankyrin repeat and KH domain containing 1 |
Synonyms |
A530027J04Rik, 9130019P20Rik, 4933432B13Rik, 1110004O12Rik |
MMRRC Submission |
038481-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0243 (G1)
|
Quality Score |
198 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
36693656-36791961 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 36767787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 1235
(C1235S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123270
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006205]
[ENSMUST00000142977]
[ENSMUST00000155329]
|
AlphaFold |
E9PUR0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006205
AA Change: C1235S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006205 Gene: ENSMUSG00000024483 AA Change: C1235S
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2334 |
2346 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130035
|
SMART Domains |
Protein: ENSMUSP00000117110 Gene: ENSMUSG00000024483
Domain | Start | End | E-Value | Type |
ANK
|
2 |
26 |
5.35e2 |
SMART |
ANK
|
30 |
59 |
9.41e-6 |
SMART |
ANK
|
63 |
96 |
3.8e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136030
|
SMART Domains |
Protein: ENSMUSP00000115837 Gene: ENSMUSG00000024483
Domain | Start | End | E-Value | Type |
ANK
|
94 |
123 |
2.07e-2 |
SMART |
ANK
|
127 |
156 |
2.48e-5 |
SMART |
ANK
|
161 |
190 |
3.85e-2 |
SMART |
ANK
|
194 |
219 |
4.23e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142780
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142977
AA Change: C1235S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120290 Gene: ENSMUSG00000024483 AA Change: C1235S
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2334 |
2346 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153612
|
SMART Domains |
Protein: ENSMUSP00000116462 Gene: ENSMUSG00000024483
Domain | Start | End | E-Value | Type |
ANK
|
10 |
39 |
9.41e-6 |
SMART |
ANK
|
43 |
76 |
3.8e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155329
AA Change: C1235S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123270 Gene: ENSMUSG00000024483 AA Change: C1235S
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2342 |
2362 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6884 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.0%
|
Validation Efficiency |
98% (148/151) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 139 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
G |
5: 64,055,806 (GRCm39) |
Y181D |
probably benign |
Het |
1700029H14Rik |
A |
G |
8: 13,604,715 (GRCm39) |
V196A |
possibly damaging |
Het |
2410004B18Rik |
A |
G |
3: 145,643,833 (GRCm39) |
D7G |
probably damaging |
Het |
Acap1 |
A |
G |
11: 69,776,252 (GRCm39) |
V249A |
probably damaging |
Het |
Acat2 |
A |
T |
17: 13,162,908 (GRCm39) |
D313E |
probably benign |
Het |
Actn4 |
T |
C |
7: 28,604,823 (GRCm39) |
T325A |
probably benign |
Het |
Adamdec1 |
C |
T |
14: 68,819,407 (GRCm39) |
|
probably null |
Het |
Adat2 |
A |
G |
10: 13,429,037 (GRCm39) |
T10A |
probably benign |
Het |
Aff4 |
T |
A |
11: 53,288,685 (GRCm39) |
S400R |
possibly damaging |
Het |
Agbl2 |
C |
T |
2: 90,621,825 (GRCm39) |
P104L |
possibly damaging |
Het |
Alox12 |
G |
T |
11: 70,133,542 (GRCm39) |
T594K |
possibly damaging |
Het |
Als2 |
C |
A |
1: 59,254,546 (GRCm39) |
K270N |
probably benign |
Het |
Ankrd24 |
T |
A |
10: 81,470,778 (GRCm39) |
I69N |
probably damaging |
Het |
Aox4 |
G |
A |
1: 58,252,235 (GRCm39) |
V37I |
probably benign |
Het |
Arfgap3 |
A |
G |
15: 83,214,714 (GRCm39) |
|
probably benign |
Het |
Arhgef4 |
T |
A |
1: 34,846,080 (GRCm39) |
|
probably null |
Het |
Asic1 |
C |
T |
15: 99,596,498 (GRCm39) |
|
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,366,057 (GRCm39) |
N776S |
probably benign |
Het |
Bbs7 |
A |
G |
3: 36,659,883 (GRCm39) |
I184T |
probably benign |
Het |
Bbs9 |
A |
T |
9: 22,425,297 (GRCm39) |
H117L |
probably damaging |
Het |
Bnip2 |
T |
C |
9: 69,902,787 (GRCm39) |
W10R |
probably damaging |
Het |
Brd4 |
G |
T |
17: 32,443,097 (GRCm39) |
Q175K |
probably benign |
Het |
Bysl |
A |
T |
17: 47,917,821 (GRCm39) |
V124E |
possibly damaging |
Het |
Cadm3 |
A |
G |
1: 173,174,140 (GRCm39) |
|
probably benign |
Het |
Cc2d2a |
T |
C |
5: 43,853,980 (GRCm39) |
|
probably benign |
Het |
Ccdc134 |
G |
T |
15: 82,025,147 (GRCm39) |
E215D |
probably damaging |
Het |
Celsr3 |
G |
T |
9: 108,720,923 (GRCm39) |
|
probably benign |
Het |
Cntn5 |
T |
A |
9: 9,781,780 (GRCm39) |
D428V |
probably damaging |
Het |
Cog1 |
A |
G |
11: 113,547,821 (GRCm39) |
|
probably benign |
Het |
Col11a2 |
G |
T |
17: 34,281,520 (GRCm39) |
|
probably benign |
Het |
Cyp4f13 |
G |
A |
17: 33,143,943 (GRCm39) |
|
probably benign |
Het |
Dffb |
T |
A |
4: 154,049,835 (GRCm39) |
K343* |
probably null |
Het |
Dnah9 |
T |
A |
11: 65,802,678 (GRCm39) |
I224F |
possibly damaging |
Het |
Dolk |
A |
T |
2: 30,176,031 (GRCm39) |
C5S |
probably benign |
Het |
Dynlt2b |
A |
G |
16: 32,245,705 (GRCm39) |
D118G |
probably damaging |
Het |
Ebf1 |
A |
T |
11: 44,759,915 (GRCm39) |
|
probably benign |
Het |
Elac1 |
A |
G |
18: 73,875,434 (GRCm39) |
L199P |
probably damaging |
Het |
Elmod1 |
A |
C |
9: 53,842,831 (GRCm39) |
|
probably benign |
Het |
Ep400 |
A |
C |
5: 110,872,273 (GRCm39) |
|
probably benign |
Het |
F10 |
A |
T |
8: 13,098,196 (GRCm39) |
N133I |
probably damaging |
Het |
Fasn |
A |
G |
11: 120,706,141 (GRCm39) |
Y1068H |
probably benign |
Het |
Fbxo24 |
T |
C |
5: 137,622,819 (GRCm39) |
E12G |
probably damaging |
Het |
Fer |
G |
T |
17: 64,385,941 (GRCm39) |
L304F |
probably benign |
Het |
Filip1 |
A |
C |
9: 79,726,285 (GRCm39) |
L778R |
probably damaging |
Het |
Fli1 |
A |
T |
9: 32,335,277 (GRCm39) |
I385N |
probably benign |
Het |
Fpgs |
A |
T |
2: 32,582,506 (GRCm39) |
L89* |
probably null |
Het |
Gab2 |
T |
G |
7: 96,948,448 (GRCm39) |
I346R |
probably damaging |
Het |
Gm10764 |
G |
A |
10: 87,126,841 (GRCm39) |
G83R |
unknown |
Het |
Gpr83 |
G |
T |
9: 14,776,138 (GRCm39) |
C153F |
possibly damaging |
Het |
Gtf3c3 |
A |
G |
1: 54,442,695 (GRCm39) |
L783P |
possibly damaging |
Het |
Gys2 |
A |
G |
6: 142,418,394 (GRCm39) |
|
probably benign |
Het |
Heatr9 |
C |
T |
11: 83,404,164 (GRCm39) |
V378I |
possibly damaging |
Het |
Helz |
A |
T |
11: 107,528,740 (GRCm39) |
Y920F |
possibly damaging |
Het |
Inpp5f |
A |
T |
7: 128,296,907 (GRCm39) |
Q459L |
probably damaging |
Het |
Ints12 |
T |
C |
3: 132,814,806 (GRCm39) |
S338P |
probably benign |
Het |
Kif13a |
T |
C |
13: 46,944,827 (GRCm39) |
T925A |
probably benign |
Het |
Kif1a |
C |
T |
1: 92,969,815 (GRCm39) |
V1051I |
probably damaging |
Het |
Kif7 |
T |
A |
7: 79,349,308 (GRCm39) |
H1119L |
possibly damaging |
Het |
Kmt2d |
C |
T |
15: 98,748,018 (GRCm39) |
|
probably benign |
Het |
Krt90 |
C |
T |
15: 101,471,110 (GRCm39) |
G51S |
possibly damaging |
Het |
Krtap31-2 |
A |
T |
11: 99,827,572 (GRCm39) |
I135F |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,258,974 (GRCm39) |
E4572G |
probably benign |
Het |
Mapk8ip1 |
T |
C |
2: 92,216,289 (GRCm39) |
E493G |
probably damaging |
Het |
Matk |
T |
G |
10: 81,094,326 (GRCm39) |
L28V |
probably benign |
Het |
Mcc |
T |
A |
18: 44,892,366 (GRCm39) |
T83S |
probably benign |
Het |
Mtch1 |
A |
T |
17: 29,559,080 (GRCm39) |
M204K |
possibly damaging |
Het |
Muc4 |
T |
G |
16: 32,586,120 (GRCm39) |
C2622G |
possibly damaging |
Het |
Myo5a |
G |
A |
9: 75,093,405 (GRCm39) |
|
probably null |
Het |
Myoz3 |
T |
C |
18: 60,712,023 (GRCm39) |
Y185C |
probably damaging |
Het |
Nnmt |
A |
G |
9: 48,503,438 (GRCm39) |
V196A |
probably benign |
Het |
Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
Nup214 |
T |
A |
2: 31,888,069 (GRCm39) |
|
probably benign |
Het |
Or2aj4 |
T |
G |
16: 19,385,044 (GRCm39) |
E196D |
probably damaging |
Het |
Or2y13 |
T |
C |
11: 49,414,739 (GRCm39) |
L63P |
probably damaging |
Het |
Or4c126 |
T |
A |
2: 89,824,150 (GRCm39) |
F138I |
probably benign |
Het |
Pank3 |
T |
C |
11: 35,672,543 (GRCm39) |
|
probably benign |
Het |
Parm1 |
A |
T |
5: 91,742,153 (GRCm39) |
N174Y |
possibly damaging |
Het |
Pcgf2 |
A |
T |
11: 97,583,244 (GRCm39) |
|
probably null |
Het |
Pclo |
A |
T |
5: 14,825,434 (GRCm39) |
K4661M |
unknown |
Het |
Pcsk7 |
A |
C |
9: 45,827,357 (GRCm39) |
S375R |
probably damaging |
Het |
Pdzrn4 |
G |
T |
15: 92,668,200 (GRCm39) |
S784I |
possibly damaging |
Het |
Pex6 |
T |
A |
17: 47,034,663 (GRCm39) |
|
probably null |
Het |
Pi4ka |
C |
T |
16: 17,115,499 (GRCm39) |
V1384M |
probably benign |
Het |
Polr3f |
T |
A |
2: 144,378,195 (GRCm39) |
|
probably benign |
Het |
Ppp2r3d |
A |
T |
9: 101,089,483 (GRCm39) |
V280E |
probably damaging |
Het |
Prdm14 |
C |
T |
1: 13,192,672 (GRCm39) |
G356R |
probably damaging |
Het |
Prepl |
A |
G |
17: 85,372,466 (GRCm39) |
|
probably null |
Het |
Primpol |
T |
C |
8: 47,052,849 (GRCm39) |
D154G |
probably damaging |
Het |
Ptchd4 |
A |
C |
17: 42,814,307 (GRCm39) |
H736P |
probably damaging |
Het |
Rab11fip1 |
A |
G |
8: 27,642,253 (GRCm39) |
S849P |
probably damaging |
Het |
Rap1gap |
T |
A |
4: 137,446,662 (GRCm39) |
D405E |
probably damaging |
Het |
Rbm26 |
T |
C |
14: 105,369,374 (GRCm39) |
T686A |
probably benign |
Het |
Resf1 |
T |
C |
6: 149,227,739 (GRCm39) |
Y262H |
probably damaging |
Het |
Rint1 |
A |
G |
5: 24,021,930 (GRCm39) |
|
probably benign |
Het |
Rnasek |
G |
T |
11: 70,129,266 (GRCm39) |
Y62* |
probably null |
Het |
Rnf17 |
T |
G |
14: 56,719,541 (GRCm39) |
N930K |
possibly damaging |
Het |
Sap130 |
A |
G |
18: 31,813,734 (GRCm39) |
|
probably benign |
Het |
Sectm1b |
T |
A |
11: 120,946,611 (GRCm39) |
I95F |
probably damaging |
Het |
Sema4f |
A |
T |
6: 82,916,447 (GRCm39) |
I53N |
possibly damaging |
Het |
Shld1 |
T |
C |
2: 132,592,559 (GRCm39) |
V202A |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,927,396 (GRCm39) |
T137A |
probably damaging |
Het |
Six5 |
A |
C |
7: 18,830,947 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
A |
T |
19: 8,322,721 (GRCm39) |
I345N |
probably benign |
Het |
Slc25a27 |
A |
T |
17: 43,954,518 (GRCm39) |
M316K |
probably benign |
Het |
Slc2a8 |
A |
T |
2: 32,870,116 (GRCm39) |
|
probably benign |
Het |
Snx1 |
G |
A |
9: 66,008,608 (GRCm39) |
|
probably benign |
Het |
Spag17 |
A |
G |
3: 99,992,684 (GRCm39) |
T1727A |
probably benign |
Het |
Spata20 |
T |
C |
11: 94,372,472 (GRCm39) |
D633G |
probably benign |
Het |
Spock1 |
C |
T |
13: 57,583,922 (GRCm39) |
|
probably null |
Het |
Sra1 |
A |
T |
18: 36,808,759 (GRCm39) |
Y291* |
probably null |
Het |
Sspo |
C |
A |
6: 48,470,120 (GRCm39) |
P4520T |
probably damaging |
Het |
Stat4 |
A |
G |
1: 52,051,016 (GRCm39) |
N25S |
probably benign |
Het |
Tbx18 |
A |
T |
9: 87,597,569 (GRCm39) |
|
probably benign |
Het |
Tep1 |
T |
A |
14: 51,084,444 (GRCm39) |
I187F |
probably damaging |
Het |
Tfap2b |
A |
T |
1: 19,304,347 (GRCm39) |
I368F |
probably damaging |
Het |
Tmtc1 |
A |
T |
6: 148,148,335 (GRCm39) |
L711Q |
probably damaging |
Het |
Tmx3 |
T |
A |
18: 90,556,613 (GRCm39) |
|
probably benign |
Het |
Tnc |
G |
T |
4: 63,888,657 (GRCm39) |
T1803K |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tpgs1 |
C |
T |
10: 79,511,700 (GRCm39) |
P281S |
probably benign |
Het |
Trim45 |
A |
G |
3: 100,837,160 (GRCm39) |
R499G |
probably benign |
Het |
Tulp3 |
A |
T |
6: 128,302,921 (GRCm39) |
Y299* |
probably null |
Het |
Ube4a |
A |
T |
9: 44,857,476 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
T |
G |
2: 69,781,749 (GRCm39) |
S642R |
probably damaging |
Het |
Vcpip1 |
A |
T |
1: 9,817,431 (GRCm39) |
Y317* |
probably null |
Het |
Vmn1r115 |
G |
A |
7: 20,578,327 (GRCm39) |
T195I |
probably benign |
Het |
Vmn1r226 |
G |
A |
17: 20,907,839 (GRCm39) |
V24I |
probably benign |
Het |
Wdr41 |
C |
T |
13: 95,153,914 (GRCm39) |
A321V |
probably damaging |
Het |
Wfdc5 |
T |
C |
2: 164,020,755 (GRCm39) |
N44D |
probably benign |
Het |
Wnt7b |
C |
A |
15: 85,443,103 (GRCm39) |
|
probably null |
Het |
Zfp108 |
T |
C |
7: 23,961,208 (GRCm39) |
S600P |
possibly damaging |
Het |
Zfp267 |
A |
G |
3: 36,219,303 (GRCm39) |
H442R |
possibly damaging |
Het |
Zfp385b |
A |
G |
2: 77,246,072 (GRCm39) |
|
probably null |
Het |
Zfp395 |
T |
C |
14: 65,623,929 (GRCm39) |
S133P |
probably benign |
Het |
Zfp407 |
T |
A |
18: 84,576,836 (GRCm39) |
M1426L |
probably damaging |
Het |
Zfp641 |
T |
G |
15: 98,187,008 (GRCm39) |
N191T |
possibly damaging |
Het |
Zfp687 |
T |
C |
3: 94,918,864 (GRCm39) |
S303G |
probably damaging |
Het |
Zfp759 |
T |
A |
13: 67,286,877 (GRCm39) |
F143I |
possibly damaging |
Het |
Zgrf1 |
G |
C |
3: 127,409,095 (GRCm39) |
E1690Q |
probably damaging |
Het |
|
Other mutations in Ankhd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Ankhd1
|
APN |
18 |
36,798,512 (GRCm39) |
unclassified |
probably benign |
|
IGL00927:Ankhd1
|
APN |
18 |
36,765,125 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01367:Ankhd1
|
APN |
18 |
36,711,696 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01624:Ankhd1
|
APN |
18 |
36,791,066 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01725:Ankhd1
|
APN |
18 |
36,781,206 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01767:Ankhd1
|
APN |
18 |
36,781,427 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02005:Ankhd1
|
APN |
18 |
36,781,479 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02009:Ankhd1
|
APN |
18 |
36,757,714 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02246:Ankhd1
|
APN |
18 |
36,789,779 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02336:Ankhd1
|
APN |
18 |
36,727,867 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02628:Ankhd1
|
APN |
18 |
36,780,756 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02644:Ankhd1
|
APN |
18 |
36,711,828 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02735:Ankhd1
|
APN |
18 |
36,781,599 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02877:Ankhd1
|
APN |
18 |
36,727,876 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03129:Ankhd1
|
APN |
18 |
36,791,061 (GRCm39) |
nonsense |
probably null |
|
IGL03163:Ankhd1
|
APN |
18 |
36,780,681 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03182:Ankhd1
|
APN |
18 |
36,711,827 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03184:Ankhd1
|
APN |
18 |
36,780,830 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03398:Ankhd1
|
APN |
18 |
36,789,890 (GRCm39) |
splice site |
probably benign |
|
FR4304:Ankhd1
|
UTSW |
18 |
36,693,977 (GRCm39) |
small insertion |
probably benign |
|
R0051:Ankhd1
|
UTSW |
18 |
36,780,241 (GRCm39) |
unclassified |
probably benign |
|
R0089:Ankhd1
|
UTSW |
18 |
36,773,409 (GRCm39) |
missense |
probably damaging |
0.99 |
R0105:Ankhd1
|
UTSW |
18 |
36,779,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R0149:Ankhd1
|
UTSW |
18 |
36,780,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R0322:Ankhd1
|
UTSW |
18 |
36,791,061 (GRCm39) |
nonsense |
probably null |
|
R0361:Ankhd1
|
UTSW |
18 |
36,780,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Ankhd1
|
UTSW |
18 |
36,777,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0418:Ankhd1
|
UTSW |
18 |
36,767,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R0443:Ankhd1
|
UTSW |
18 |
36,777,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0540:Ankhd1
|
UTSW |
18 |
36,773,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Ankhd1
|
UTSW |
18 |
36,773,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0738:Ankhd1
|
UTSW |
18 |
36,778,302 (GRCm39) |
splice site |
probably benign |
|
R1127:Ankhd1
|
UTSW |
18 |
36,767,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R1434:Ankhd1
|
UTSW |
18 |
36,758,212 (GRCm39) |
missense |
probably benign |
0.09 |
R1742:Ankhd1
|
UTSW |
18 |
36,758,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Ankhd1
|
UTSW |
18 |
36,780,361 (GRCm39) |
missense |
probably benign |
0.17 |
R1856:Ankhd1
|
UTSW |
18 |
36,777,580 (GRCm39) |
missense |
probably benign |
0.00 |
R1923:Ankhd1
|
UTSW |
18 |
36,781,083 (GRCm39) |
missense |
probably benign |
0.08 |
R2044:Ankhd1
|
UTSW |
18 |
36,778,166 (GRCm39) |
missense |
probably benign |
0.31 |
R2112:Ankhd1
|
UTSW |
18 |
36,774,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R2115:Ankhd1
|
UTSW |
18 |
36,767,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Ankhd1
|
UTSW |
18 |
36,780,674 (GRCm39) |
missense |
probably benign |
|
R2196:Ankhd1
|
UTSW |
18 |
36,781,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Ankhd1
|
UTSW |
18 |
36,777,386 (GRCm39) |
missense |
probably benign |
0.31 |
R2305:Ankhd1
|
UTSW |
18 |
36,775,979 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2309:Ankhd1
|
UTSW |
18 |
36,757,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R2519:Ankhd1
|
UTSW |
18 |
36,711,596 (GRCm39) |
splice site |
probably null |
|
R2958:Ankhd1
|
UTSW |
18 |
36,767,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R3978:Ankhd1
|
UTSW |
18 |
36,780,666 (GRCm39) |
missense |
probably damaging |
0.96 |
R3980:Ankhd1
|
UTSW |
18 |
36,780,666 (GRCm39) |
missense |
probably damaging |
0.96 |
R4159:Ankhd1
|
UTSW |
18 |
36,722,593 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4199:Ankhd1
|
UTSW |
18 |
36,794,101 (GRCm39) |
unclassified |
probably benign |
|
R4323:Ankhd1
|
UTSW |
18 |
36,711,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R4356:Ankhd1
|
UTSW |
18 |
36,776,096 (GRCm39) |
nonsense |
probably null |
|
R4496:Ankhd1
|
UTSW |
18 |
36,693,839 (GRCm39) |
missense |
probably damaging |
0.98 |
R4551:Ankhd1
|
UTSW |
18 |
36,788,560 (GRCm39) |
splice site |
probably null |
|
R4590:Ankhd1
|
UTSW |
18 |
36,716,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R4667:Ankhd1
|
UTSW |
18 |
36,781,074 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4889:Ankhd1
|
UTSW |
18 |
36,711,787 (GRCm39) |
missense |
probably null |
0.00 |
R4923:Ankhd1
|
UTSW |
18 |
36,722,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R5091:Ankhd1
|
UTSW |
18 |
36,758,080 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5254:Ankhd1
|
UTSW |
18 |
36,789,768 (GRCm39) |
missense |
probably benign |
0.05 |
R5314:Ankhd1
|
UTSW |
18 |
36,694,111 (GRCm39) |
splice site |
probably null |
|
R5336:Ankhd1
|
UTSW |
18 |
36,779,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R5367:Ankhd1
|
UTSW |
18 |
36,722,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R5384:Ankhd1
|
UTSW |
18 |
36,724,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5385:Ankhd1
|
UTSW |
18 |
36,724,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5387:Ankhd1
|
UTSW |
18 |
36,767,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R5458:Ankhd1
|
UTSW |
18 |
36,781,538 (GRCm39) |
missense |
probably benign |
0.01 |
R5599:Ankhd1
|
UTSW |
18 |
36,693,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R5659:Ankhd1
|
UTSW |
18 |
36,694,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R5750:Ankhd1
|
UTSW |
18 |
36,757,955 (GRCm39) |
missense |
probably benign |
0.00 |
R5874:Ankhd1
|
UTSW |
18 |
36,773,322 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5894:Ankhd1
|
UTSW |
18 |
36,780,577 (GRCm39) |
missense |
probably damaging |
0.99 |
R5969:Ankhd1
|
UTSW |
18 |
36,733,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R6133:Ankhd1
|
UTSW |
18 |
36,758,179 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6190:Ankhd1
|
UTSW |
18 |
36,744,862 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6247:Ankhd1
|
UTSW |
18 |
36,787,199 (GRCm39) |
missense |
probably benign |
0.00 |
R6512:Ankhd1
|
UTSW |
18 |
36,724,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Ankhd1
|
UTSW |
18 |
36,733,836 (GRCm39) |
splice site |
probably null |
|
R6653:Ankhd1
|
UTSW |
18 |
36,733,836 (GRCm39) |
splice site |
probably null |
|
R6763:Ankhd1
|
UTSW |
18 |
36,776,022 (GRCm39) |
missense |
probably benign |
0.31 |
R6976:Ankhd1
|
UTSW |
18 |
36,781,307 (GRCm39) |
missense |
probably benign |
0.00 |
R7075:Ankhd1
|
UTSW |
18 |
36,693,042 (GRCm39) |
missense |
|
|
R7208:Ankhd1
|
UTSW |
18 |
36,758,081 (GRCm39) |
missense |
probably benign |
|
R7305:Ankhd1
|
UTSW |
18 |
36,765,258 (GRCm39) |
missense |
|
|
R7615:Ankhd1
|
UTSW |
18 |
36,789,826 (GRCm39) |
missense |
|
|
R7654:Ankhd1
|
UTSW |
18 |
36,727,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R7781:Ankhd1
|
UTSW |
18 |
36,758,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R7842:Ankhd1
|
UTSW |
18 |
36,780,881 (GRCm39) |
missense |
probably benign |
0.00 |
R7965:Ankhd1
|
UTSW |
18 |
36,791,465 (GRCm39) |
missense |
|
|
R8006:Ankhd1
|
UTSW |
18 |
36,781,772 (GRCm39) |
missense |
|
|
R8037:Ankhd1
|
UTSW |
18 |
36,771,676 (GRCm39) |
missense |
probably damaging |
0.98 |
R8123:Ankhd1
|
UTSW |
18 |
36,708,136 (GRCm39) |
missense |
|
|
R8195:Ankhd1
|
UTSW |
18 |
36,787,230 (GRCm39) |
missense |
|
|
R8305:Ankhd1
|
UTSW |
18 |
36,780,219 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8708:Ankhd1
|
UTSW |
18 |
36,727,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R8827:Ankhd1
|
UTSW |
18 |
36,757,633 (GRCm39) |
nonsense |
probably null |
|
R9138:Ankhd1
|
UTSW |
18 |
36,693,961 (GRCm39) |
small deletion |
probably benign |
|
R9139:Ankhd1
|
UTSW |
18 |
36,711,810 (GRCm39) |
missense |
|
|
R9186:Ankhd1
|
UTSW |
18 |
36,767,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9245:Ankhd1
|
UTSW |
18 |
36,788,653 (GRCm39) |
missense |
|
|
R9254:Ankhd1
|
UTSW |
18 |
36,777,680 (GRCm39) |
missense |
probably benign |
0.03 |
R9262:Ankhd1
|
UTSW |
18 |
36,765,799 (GRCm39) |
missense |
|
|
R9379:Ankhd1
|
UTSW |
18 |
36,777,680 (GRCm39) |
missense |
probably benign |
0.03 |
R9436:Ankhd1
|
UTSW |
18 |
36,774,654 (GRCm39) |
missense |
probably benign |
0.04 |
R9436:Ankhd1
|
UTSW |
18 |
36,694,041 (GRCm39) |
missense |
probably benign |
0.39 |
R9541:Ankhd1
|
UTSW |
18 |
36,757,697 (GRCm39) |
missense |
|
|
R9584:Ankhd1
|
UTSW |
18 |
36,798,504 (GRCm39) |
missense |
probably benign |
0.06 |
R9664:Ankhd1
|
UTSW |
18 |
36,780,878 (GRCm39) |
missense |
probably benign |
0.03 |
RF001:Ankhd1
|
UTSW |
18 |
36,693,974 (GRCm39) |
small insertion |
probably benign |
|
RF004:Ankhd1
|
UTSW |
18 |
36,693,963 (GRCm39) |
small insertion |
probably benign |
|
RF007:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF008:Ankhd1
|
UTSW |
18 |
36,693,977 (GRCm39) |
small insertion |
probably benign |
|
RF009:Ankhd1
|
UTSW |
18 |
36,693,975 (GRCm39) |
small insertion |
probably benign |
|
RF013:Ankhd1
|
UTSW |
18 |
36,693,979 (GRCm39) |
small insertion |
probably benign |
|
RF016:Ankhd1
|
UTSW |
18 |
36,693,963 (GRCm39) |
small insertion |
probably benign |
|
RF016:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF017:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF018:Ankhd1
|
UTSW |
18 |
36,693,965 (GRCm39) |
small insertion |
probably benign |
|
RF026:Ankhd1
|
UTSW |
18 |
36,693,965 (GRCm39) |
small insertion |
probably benign |
|
RF030:Ankhd1
|
UTSW |
18 |
36,693,980 (GRCm39) |
small insertion |
probably benign |
|
RF030:Ankhd1
|
UTSW |
18 |
36,693,966 (GRCm39) |
small insertion |
probably benign |
|
RF039:Ankhd1
|
UTSW |
18 |
36,693,971 (GRCm39) |
small insertion |
probably benign |
|
RF043:Ankhd1
|
UTSW |
18 |
36,693,970 (GRCm39) |
small insertion |
probably benign |
|
RF046:Ankhd1
|
UTSW |
18 |
36,693,979 (GRCm39) |
small insertion |
probably benign |
|
RF047:Ankhd1
|
UTSW |
18 |
36,693,976 (GRCm39) |
small insertion |
probably benign |
|
RF047:Ankhd1
|
UTSW |
18 |
36,693,970 (GRCm39) |
small insertion |
probably benign |
|
RF049:Ankhd1
|
UTSW |
18 |
36,693,976 (GRCm39) |
small insertion |
probably benign |
|
RF050:Ankhd1
|
UTSW |
18 |
36,693,980 (GRCm39) |
small insertion |
probably benign |
|
RF054:Ankhd1
|
UTSW |
18 |
36,693,982 (GRCm39) |
small insertion |
probably benign |
|
RF057:Ankhd1
|
UTSW |
18 |
36,693,982 (GRCm39) |
small insertion |
probably benign |
|
RF060:Ankhd1
|
UTSW |
18 |
36,693,975 (GRCm39) |
small insertion |
probably benign |
|
RF061:Ankhd1
|
UTSW |
18 |
36,693,974 (GRCm39) |
small insertion |
probably benign |
|
RF062:Ankhd1
|
UTSW |
18 |
36,693,971 (GRCm39) |
small insertion |
probably benign |
|
X0027:Ankhd1
|
UTSW |
18 |
36,757,885 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Ankhd1
|
UTSW |
18 |
36,711,817 (GRCm39) |
nonsense |
probably null |
|
X0066:Ankhd1
|
UTSW |
18 |
36,779,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTCTGGCTGCATCTGGAGGATAC -3'
(R):5'- GTTCCCTAAACTTGCACTGGAGATGAG -3'
Sequencing Primer
(F):5'- AAGATTTTACTTAATGCTGGGGCAG -3'
(R):5'- CTTGCACTGGAGATGAGTTGAAATG -3'
|
Posted On |
2013-05-23 |