Incidental Mutation 'R0243:Ep400'
| ID |
37846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ep400
|
| Ensembl Gene |
ENSMUSG00000029505 |
| Gene Name |
E1A binding protein p400 |
| Synonyms |
1700020J09Rik, p400, mDomino |
| MMRRC Submission |
038481-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0243 (G1)
|
| Quality Score |
109 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110812239-110918583 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 110872273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041558]
[ENSMUST00000112435]
[ENSMUST00000112436]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041558
|
| SMART Domains |
Protein: ENSMUSP00000049038
Gene: ENSMUSG00000029505
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EP400_N
|
1 |
461 |
1.6e-232 |
PFAM |
|
low complexity region
|
519 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
686 |
N/A |
INTRINSIC |
|
HSA
|
762 |
833 |
1.31e-31 |
SMART |
|
low complexity region
|
908 |
925 |
N/A |
INTRINSIC |
|
DEXDc
|
1049 |
1238 |
2.76e-15 |
SMART |
|
Blast:DEXDc
|
1276 |
1317 |
2e-15 |
BLAST |
|
low complexity region
|
1407 |
1417 |
N/A |
INTRINSIC |
|
HELICc
|
1807 |
1893 |
1.17e-4 |
SMART |
|
low complexity region
|
2006 |
2019 |
N/A |
INTRINSIC |
|
low complexity region
|
2080 |
2100 |
N/A |
INTRINSIC |
|
low complexity region
|
2214 |
2223 |
N/A |
INTRINSIC |
|
SANT
|
2243 |
2310 |
3.57e-1 |
SMART |
|
low complexity region
|
2402 |
2489 |
N/A |
INTRINSIC |
|
low complexity region
|
2596 |
2608 |
N/A |
INTRINSIC |
|
low complexity region
|
2644 |
2679 |
N/A |
INTRINSIC |
|
low complexity region
|
2694 |
2738 |
N/A |
INTRINSIC |
|
low complexity region
|
2769 |
2806 |
N/A |
INTRINSIC |
|
low complexity region
|
2846 |
2883 |
N/A |
INTRINSIC |
|
low complexity region
|
2933 |
2947 |
N/A |
INTRINSIC |
|
low complexity region
|
2974 |
2986 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112435
|
| SMART Domains |
Protein: ENSMUSP00000108054
Gene: ENSMUSG00000029505
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
329 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
668 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
723 |
N/A |
INTRINSIC |
|
HSA
|
799 |
870 |
1.31e-31 |
SMART |
|
low complexity region
|
945 |
962 |
N/A |
INTRINSIC |
|
DEXDc
|
1086 |
1275 |
2.76e-15 |
SMART |
|
Blast:DEXDc
|
1313 |
1354 |
2e-15 |
BLAST |
|
low complexity region
|
1444 |
1454 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1556 |
1646 |
6.82e-5 |
PROSPERO |
|
low complexity region
|
1887 |
1900 |
N/A |
INTRINSIC |
|
low complexity region
|
1961 |
1981 |
N/A |
INTRINSIC |
|
low complexity region
|
2095 |
2104 |
N/A |
INTRINSIC |
|
SANT
|
2124 |
2191 |
3.57e-1 |
SMART |
|
low complexity region
|
2283 |
2370 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2371 |
2463 |
6.82e-5 |
PROSPERO |
|
low complexity region
|
2477 |
2489 |
N/A |
INTRINSIC |
|
low complexity region
|
2525 |
2560 |
N/A |
INTRINSIC |
|
low complexity region
|
2575 |
2619 |
N/A |
INTRINSIC |
|
low complexity region
|
2645 |
2659 |
N/A |
INTRINSIC |
|
low complexity region
|
2660 |
2680 |
N/A |
INTRINSIC |
|
low complexity region
|
2720 |
2757 |
N/A |
INTRINSIC |
|
low complexity region
|
2807 |
2821 |
N/A |
INTRINSIC |
|
low complexity region
|
2848 |
2860 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112436
|
| SMART Domains |
Protein: ENSMUSP00000108055
Gene: ENSMUSG00000029505
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
329 |
N/A |
INTRINSIC |
|
coiled coil region
|
418 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
472 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
595 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
650 |
N/A |
INTRINSIC |
|
HSA
|
726 |
797 |
1.31e-31 |
SMART |
|
low complexity region
|
872 |
889 |
N/A |
INTRINSIC |
|
DEXDc
|
1013 |
1202 |
2.76e-15 |
SMART |
|
Blast:DEXDc
|
1240 |
1281 |
2e-15 |
BLAST |
|
low complexity region
|
1371 |
1381 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1483 |
1573 |
6.76e-5 |
PROSPERO |
|
HELICc
|
1771 |
1857 |
1.17e-4 |
SMART |
|
low complexity region
|
1970 |
1983 |
N/A |
INTRINSIC |
|
low complexity region
|
2044 |
2064 |
N/A |
INTRINSIC |
|
low complexity region
|
2178 |
2187 |
N/A |
INTRINSIC |
|
SANT
|
2207 |
2274 |
3.57e-1 |
SMART |
|
low complexity region
|
2366 |
2453 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2454 |
2546 |
6.76e-5 |
PROSPERO |
|
low complexity region
|
2560 |
2572 |
N/A |
INTRINSIC |
|
low complexity region
|
2608 |
2643 |
N/A |
INTRINSIC |
|
low complexity region
|
2658 |
2702 |
N/A |
INTRINSIC |
|
low complexity region
|
2733 |
2770 |
N/A |
INTRINSIC |
|
low complexity region
|
2810 |
2847 |
N/A |
INTRINSIC |
|
low complexity region
|
2897 |
2911 |
N/A |
INTRINSIC |
|
low complexity region
|
2938 |
2950 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.0%
|
| Validation Efficiency |
98% (148/151) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die at E11.5 and display severe defects in yolk sac erythropoiesis, anemia, and a slight deformity of the neural tube. [provided by MGI curators]
|
| 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 |
| Ankhd1 |
T |
A |
18: 36,767,787 (GRCm39) |
C1235S |
probably damaging |
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 |
| 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 Ep400 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Ep400
|
APN |
5 |
110,835,707 (GRCm39) |
missense |
unknown |
|
|
IGL00585:Ep400
|
APN |
5 |
110,903,771 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL00586:Ep400
|
APN |
5 |
110,887,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00816:Ep400
|
APN |
5 |
110,883,356 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01066:Ep400
|
APN |
5 |
110,816,065 (GRCm39) |
splice site |
probably benign |
|
|
IGL01302:Ep400
|
APN |
5 |
110,889,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01568:Ep400
|
APN |
5 |
110,867,361 (GRCm39) |
missense |
unknown |
|
|
IGL01833:Ep400
|
APN |
5 |
110,827,874 (GRCm39) |
missense |
unknown |
|
|
IGL02086:Ep400
|
APN |
5 |
110,824,809 (GRCm39) |
splice site |
probably benign |
|
|
IGL02266:Ep400
|
APN |
5 |
110,843,163 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02288:Ep400
|
APN |
5 |
110,831,702 (GRCm39) |
splice site |
probably benign |
|
|
IGL02301:Ep400
|
APN |
5 |
110,822,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02377:Ep400
|
APN |
5 |
110,868,691 (GRCm39) |
missense |
unknown |
|
|
IGL02382:Ep400
|
APN |
5 |
110,849,594 (GRCm39) |
missense |
unknown |
|
|
IGL02419:Ep400
|
APN |
5 |
110,845,242 (GRCm39) |
splice site |
probably null |
|
|
IGL02591:Ep400
|
APN |
5 |
110,881,638 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02981:Ep400
|
APN |
5 |
110,839,476 (GRCm39) |
splice site |
probably benign |
|
|
IGL02981:Ep400
|
APN |
5 |
110,903,969 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL03173:Ep400
|
APN |
5 |
110,856,737 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03244:Ep400
|
APN |
5 |
110,875,429 (GRCm39) |
missense |
unknown |
|
|
IGL03333:Ep400
|
APN |
5 |
110,851,432 (GRCm39) |
missense |
unknown |
|
|
santol
|
UTSW |
5 |
110,849,537 (GRCm39) |
missense |
unknown |
|
|
PIT4243001:Ep400
|
UTSW |
5 |
110,883,446 (GRCm39) |
missense |
unknown |
|
|
PIT4260001:Ep400
|
UTSW |
5 |
110,841,037 (GRCm39) |
nonsense |
probably null |
|
|
R0017:Ep400
|
UTSW |
5 |
110,821,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0179:Ep400
|
UTSW |
5 |
110,816,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0366:Ep400
|
UTSW |
5 |
110,849,537 (GRCm39) |
missense |
unknown |
|
|
R0508:Ep400
|
UTSW |
5 |
110,887,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0541:Ep400
|
UTSW |
5 |
110,852,882 (GRCm39) |
missense |
unknown |
|
|
R0558:Ep400
|
UTSW |
5 |
110,832,933 (GRCm39) |
splice site |
probably benign |
|
|
R0576:Ep400
|
UTSW |
5 |
110,858,959 (GRCm39) |
unclassified |
probably benign |
|
|
R0595:Ep400
|
UTSW |
5 |
110,851,408 (GRCm39) |
missense |
unknown |
|
|
R0671:Ep400
|
UTSW |
5 |
110,836,062 (GRCm39) |
missense |
unknown |
|
|
R0763:Ep400
|
UTSW |
5 |
110,813,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1078:Ep400
|
UTSW |
5 |
110,883,388 (GRCm39) |
unclassified |
probably benign |
|
|
R1300:Ep400
|
UTSW |
5 |
110,821,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Ep400
|
UTSW |
5 |
110,833,344 (GRCm39) |
missense |
unknown |
|
|
R1520:Ep400
|
UTSW |
5 |
110,839,644 (GRCm39) |
intron |
probably benign |
|
|
R1529:Ep400
|
UTSW |
5 |
110,887,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1535:Ep400
|
UTSW |
5 |
110,856,032 (GRCm39) |
unclassified |
probably benign |
|
|
R1560:Ep400
|
UTSW |
5 |
110,818,972 (GRCm39) |
splice site |
probably null |
|
|
R1587:Ep400
|
UTSW |
5 |
110,874,768 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1596:Ep400
|
UTSW |
5 |
110,856,727 (GRCm39) |
unclassified |
probably benign |
|
|
R1653:Ep400
|
UTSW |
5 |
110,841,040 (GRCm39) |
nonsense |
probably null |
|
|
R1711:Ep400
|
UTSW |
5 |
110,841,174 (GRCm39) |
unclassified |
probably benign |
|
|
R1774:Ep400
|
UTSW |
5 |
110,833,357 (GRCm39) |
missense |
unknown |
|
|
R1836:Ep400
|
UTSW |
5 |
110,852,920 (GRCm39) |
missense |
unknown |
|
|
R1905:Ep400
|
UTSW |
5 |
110,818,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Ep400
|
UTSW |
5 |
110,851,441 (GRCm39) |
missense |
unknown |
|
|
R2064:Ep400
|
UTSW |
5 |
110,883,270 (GRCm39) |
unclassified |
probably benign |
|
|
R2122:Ep400
|
UTSW |
5 |
110,856,716 (GRCm39) |
unclassified |
probably benign |
|
|
R2144:Ep400
|
UTSW |
5 |
110,851,384 (GRCm39) |
missense |
unknown |
|
|
R2215:Ep400
|
UTSW |
5 |
110,841,421 (GRCm39) |
unclassified |
probably benign |
|
|
R2252:Ep400
|
UTSW |
5 |
110,866,957 (GRCm39) |
missense |
unknown |
|
|
R2253:Ep400
|
UTSW |
5 |
110,866,957 (GRCm39) |
missense |
unknown |
|
|
R2483:Ep400
|
UTSW |
5 |
110,867,102 (GRCm39) |
missense |
unknown |
|
|
R2504:Ep400
|
UTSW |
5 |
110,816,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Ep400
|
UTSW |
5 |
110,856,781 (GRCm39) |
unclassified |
probably benign |
|
|
R2842:Ep400
|
UTSW |
5 |
110,846,681 (GRCm39) |
nonsense |
probably null |
|
|
R2920:Ep400
|
UTSW |
5 |
110,903,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3082:Ep400
|
UTSW |
5 |
110,841,096 (GRCm39) |
unclassified |
probably benign |
|
|
R3151:Ep400
|
UTSW |
5 |
110,851,435 (GRCm39) |
missense |
unknown |
|
|
R3552:Ep400
|
UTSW |
5 |
110,877,153 (GRCm39) |
missense |
unknown |
|
|
R3623:Ep400
|
UTSW |
5 |
110,867,102 (GRCm39) |
missense |
unknown |
|
|
R3779:Ep400
|
UTSW |
5 |
110,839,515 (GRCm39) |
missense |
unknown |
|
|
R3923:Ep400
|
UTSW |
5 |
110,904,389 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4062:Ep400
|
UTSW |
5 |
110,889,847 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4508:Ep400
|
UTSW |
5 |
110,851,481 (GRCm39) |
missense |
unknown |
|
|
R4584:Ep400
|
UTSW |
5 |
110,881,763 (GRCm39) |
unclassified |
probably benign |
|
|
R4585:Ep400
|
UTSW |
5 |
110,901,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Ep400
|
UTSW |
5 |
110,901,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Ep400
|
UTSW |
5 |
110,843,444 (GRCm39) |
splice site |
probably null |
|
|
R4921:Ep400
|
UTSW |
5 |
110,813,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Ep400
|
UTSW |
5 |
110,868,622 (GRCm39) |
missense |
unknown |
|
|
R4976:Ep400
|
UTSW |
5 |
110,846,678 (GRCm39) |
missense |
unknown |
|
|
R5075:Ep400
|
UTSW |
5 |
110,833,351 (GRCm39) |
missense |
unknown |
|
|
R5120:Ep400
|
UTSW |
5 |
110,904,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Ep400
|
UTSW |
5 |
110,816,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Ep400
|
UTSW |
5 |
110,816,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5284:Ep400
|
UTSW |
5 |
110,815,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5388:Ep400
|
UTSW |
5 |
110,849,594 (GRCm39) |
missense |
unknown |
|
|
R5401:Ep400
|
UTSW |
5 |
110,831,037 (GRCm39) |
missense |
unknown |
|
|
R5431:Ep400
|
UTSW |
5 |
110,824,420 (GRCm39) |
missense |
unknown |
|
|
R5461:Ep400
|
UTSW |
5 |
110,824,550 (GRCm39) |
nonsense |
probably null |
|
|
R5568:Ep400
|
UTSW |
5 |
110,904,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Ep400
|
UTSW |
5 |
110,843,818 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5778:Ep400
|
UTSW |
5 |
110,867,450 (GRCm39) |
missense |
unknown |
|
|
R5806:Ep400
|
UTSW |
5 |
110,903,420 (GRCm39) |
nonsense |
probably null |
|
|
R5814:Ep400
|
UTSW |
5 |
110,843,444 (GRCm39) |
splice site |
probably null |
|
|
R5830:Ep400
|
UTSW |
5 |
110,831,862 (GRCm39) |
missense |
unknown |
|
|
R5882:Ep400
|
UTSW |
5 |
110,903,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5931:Ep400
|
UTSW |
5 |
110,883,386 (GRCm39) |
unclassified |
probably benign |
|
|
R5945:Ep400
|
UTSW |
5 |
110,830,732 (GRCm39) |
missense |
unknown |
|
|
R5966:Ep400
|
UTSW |
5 |
110,824,766 (GRCm39) |
missense |
unknown |
|
|
R5973:Ep400
|
UTSW |
5 |
110,877,697 (GRCm39) |
missense |
unknown |
|
|
R5980:Ep400
|
UTSW |
5 |
110,881,595 (GRCm39) |
unclassified |
probably benign |
|
|
R6000:Ep400
|
UTSW |
5 |
110,831,067 (GRCm39) |
missense |
unknown |
|
|
R6006:Ep400
|
UTSW |
5 |
110,852,825 (GRCm39) |
missense |
unknown |
|
|
R6053:Ep400
|
UTSW |
5 |
110,903,661 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6145:Ep400
|
UTSW |
5 |
110,904,569 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6154:Ep400
|
UTSW |
5 |
110,903,799 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6169:Ep400
|
UTSW |
5 |
110,889,863 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6228:Ep400
|
UTSW |
5 |
110,818,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6295:Ep400
|
UTSW |
5 |
110,901,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6486:Ep400
|
UTSW |
5 |
110,845,084 (GRCm39) |
unclassified |
probably benign |
|
|
R6504:Ep400
|
UTSW |
5 |
110,856,703 (GRCm39) |
unclassified |
probably benign |
|
|
R6607:Ep400
|
UTSW |
5 |
110,831,180 (GRCm39) |
missense |
unknown |
|
|
R6657:Ep400
|
UTSW |
5 |
110,841,411 (GRCm39) |
unclassified |
probably benign |
|
|
R6660:Ep400
|
UTSW |
5 |
110,867,313 (GRCm39) |
nonsense |
probably null |
|
|
R6741:Ep400
|
UTSW |
5 |
110,824,761 (GRCm39) |
missense |
unknown |
|
|
R6933:Ep400
|
UTSW |
5 |
110,813,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6937:Ep400
|
UTSW |
5 |
110,859,018 (GRCm39) |
unclassified |
probably benign |
|
|
R7069:Ep400
|
UTSW |
5 |
110,815,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7103:Ep400
|
UTSW |
5 |
110,881,651 (GRCm39) |
missense |
unknown |
|
|
R7156:Ep400
|
UTSW |
5 |
110,833,229 (GRCm39) |
missense |
unknown |
|
|
R7272:Ep400
|
UTSW |
5 |
110,903,511 (GRCm39) |
nonsense |
probably null |
|
|
R7365:Ep400
|
UTSW |
5 |
110,867,480 (GRCm39) |
missense |
unknown |
|
|
R7581:Ep400
|
UTSW |
5 |
110,903,891 (GRCm39) |
missense |
unknown |
|
|
R7684:Ep400
|
UTSW |
5 |
110,845,218 (GRCm39) |
missense |
unknown |
|
|
R7699:Ep400
|
UTSW |
5 |
110,843,898 (GRCm39) |
missense |
unknown |
|
|
R7700:Ep400
|
UTSW |
5 |
110,843,898 (GRCm39) |
missense |
unknown |
|
|
R7856:Ep400
|
UTSW |
5 |
110,814,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7954:Ep400
|
UTSW |
5 |
110,816,599 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8098:Ep400
|
UTSW |
5 |
110,841,117 (GRCm39) |
missense |
unknown |
|
|
R8108:Ep400
|
UTSW |
5 |
110,835,749 (GRCm39) |
missense |
unknown |
|
|
R8260:Ep400
|
UTSW |
5 |
110,903,478 (GRCm39) |
nonsense |
probably null |
|
|
R8293:Ep400
|
UTSW |
5 |
110,856,758 (GRCm39) |
missense |
unknown |
|
|
R8314:Ep400
|
UTSW |
5 |
110,903,619 (GRCm39) |
missense |
unknown |
|
|
R8351:Ep400
|
UTSW |
5 |
110,887,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8424:Ep400
|
UTSW |
5 |
110,841,144 (GRCm39) |
missense |
unknown |
|
|
R8459:Ep400
|
UTSW |
5 |
110,856,757 (GRCm39) |
missense |
unknown |
|
|
R8529:Ep400
|
UTSW |
5 |
110,867,102 (GRCm39) |
missense |
unknown |
|
|
R8688:Ep400
|
UTSW |
5 |
110,868,685 (GRCm39) |
missense |
unknown |
|
|
R8744:Ep400
|
UTSW |
5 |
110,889,925 (GRCm39) |
missense |
unknown |
|
|
R8923:Ep400
|
UTSW |
5 |
110,831,864 (GRCm39) |
missense |
unknown |
|
|
R9005:Ep400
|
UTSW |
5 |
110,858,959 (GRCm39) |
missense |
unknown |
|
|
R9087:Ep400
|
UTSW |
5 |
110,815,430 (GRCm39) |
nonsense |
probably null |
|
|
R9146:Ep400
|
UTSW |
5 |
110,849,635 (GRCm39) |
nonsense |
probably null |
|
|
R9383:Ep400
|
UTSW |
5 |
110,833,351 (GRCm39) |
missense |
unknown |
|
|
R9479:Ep400
|
UTSW |
5 |
110,877,730 (GRCm39) |
missense |
unknown |
|
|
R9496:Ep400
|
UTSW |
5 |
110,855,853 (GRCm39) |
missense |
unknown |
|
|
R9582:Ep400
|
UTSW |
5 |
110,824,315 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9607:Ep400
|
UTSW |
5 |
110,831,805 (GRCm39) |
missense |
unknown |
|
|
R9712:Ep400
|
UTSW |
5 |
110,904,509 (GRCm39) |
missense |
unknown |
|
|
R9746:Ep400
|
UTSW |
5 |
110,889,872 (GRCm39) |
missense |
unknown |
|
|
X0012:Ep400
|
UTSW |
5 |
110,821,062 (GRCm39) |
small deletion |
probably benign |
|
|
X0021:Ep400
|
UTSW |
5 |
110,830,730 (GRCm39) |
missense |
unknown |
|
|
Z1176:Ep400
|
UTSW |
5 |
110,904,501 (GRCm39) |
missense |
unknown |
|
|
Z1177:Ep400
|
UTSW |
5 |
110,881,609 (GRCm39) |
missense |
unknown |
|
|
Z1177:Ep400
|
UTSW |
5 |
110,831,230 (GRCm39) |
missense |
unknown |
|
|
Z1188:Ep400
|
UTSW |
5 |
110,903,549 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTACTGGGCAGAACCACTGGAC -3'
(R):5'- ATTGTGGATGGCAGGCTGACAG -3'
Sequencing Primer
(F):5'- CTGCTTCAGTCTCAAAAGAATAGG -3'
(R):5'- GACAATAGTTTCCAGAATCAACCTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation