Incidental Mutation 'R6155:Ankrd36'
| ID |
489529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd36
|
| Ensembl Gene |
ENSMUSG00000020481 |
| Gene Name |
ankyrin repeat domain 36 |
| Synonyms |
GC3, 1700012M14Rik, 1700008J08Rik |
| MMRRC Submission |
044302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6155 (G1)
|
| Quality Score |
197.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5519684-5639337 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5637442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1337
(E1337G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109856]
|
| AlphaFold |
D3Z4K0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109856
AA Change: E1337G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: E1337G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
29 |
62 |
3e-12 |
BLAST |
|
ANK
|
66 |
95 |
4.5e-3 |
SMART |
|
ANK
|
99 |
128 |
1.44e-1 |
SMART |
|
ANK
|
132 |
161 |
4.6e0 |
SMART |
|
ANK
|
165 |
194 |
2.48e-5 |
SMART |
|
ANK
|
198 |
227 |
4.67e-1 |
SMART |
|
internal_repeat_1
|
449 |
555 |
1.04e-5 |
PROSPERO |
|
internal_repeat_1
|
891 |
981 |
1.04e-5 |
PROSPERO |
|
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
|
coiled coil region
|
1268 |
1297 |
N/A |
INTRINSIC |
|
coiled coil region
|
1318 |
1338 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
C |
5: 105,111,510 (GRCm39) |
Y319C |
probably benign |
Het |
| Actn4 |
A |
C |
7: 28,595,566 (GRCm39) |
I763S |
probably damaging |
Het |
| Actr8 |
G |
A |
14: 29,700,546 (GRCm39) |
|
probably null |
Het |
| Adrb1 |
T |
C |
19: 56,711,336 (GRCm39) |
L178P |
probably damaging |
Het |
| Afap1 |
A |
G |
5: 36,092,953 (GRCm39) |
Y19C |
unknown |
Het |
| Arl4a |
A |
C |
12: 40,086,519 (GRCm39) |
V76G |
probably damaging |
Het |
| Bmp1 |
A |
T |
14: 70,745,447 (GRCm39) |
I246K |
probably damaging |
Het |
| Camk4 |
A |
T |
18: 33,072,500 (GRCm39) |
T18S |
unknown |
Het |
| Cep152 |
T |
C |
2: 125,423,620 (GRCm39) |
H927R |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,525,118 (GRCm39) |
I38T |
probably damaging |
Het |
| Clec2g |
A |
C |
6: 128,957,236 (GRCm39) |
T54P |
probably damaging |
Het |
| Cox20 |
A |
G |
1: 178,149,362 (GRCm39) |
E31G |
possibly damaging |
Het |
| Crispld1 |
T |
A |
1: 17,823,241 (GRCm39) |
H407Q |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 15,953,231 (GRCm39) |
I3417V |
probably benign |
Het |
| Dhtkd1 |
A |
C |
2: 5,915,170 (GRCm39) |
H700Q |
probably null |
Het |
| Dnah10 |
G |
A |
5: 124,847,663 (GRCm39) |
V1516M |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,862,239 (GRCm39) |
T2165A |
probably damaging |
Het |
| Dock2 |
C |
G |
11: 34,244,123 (GRCm39) |
M1072I |
probably benign |
Het |
| F11 |
T |
A |
8: 45,705,119 (GRCm39) |
T141S |
probably damaging |
Het |
| Gabra6 |
T |
A |
11: 42,207,350 (GRCm39) |
I245F |
probably damaging |
Het |
| H2-T5 |
G |
A |
17: 36,478,399 (GRCm39) |
A211V |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,340,705 (GRCm39) |
C1685S |
possibly damaging |
Het |
| Iftap |
A |
T |
2: 101,406,355 (GRCm39) |
|
probably null |
Het |
| Il20 |
G |
T |
1: 130,838,477 (GRCm39) |
D73E |
probably damaging |
Het |
| Ireb2 |
C |
A |
9: 54,793,811 (GRCm39) |
P247Q |
probably damaging |
Het |
| Kcng3 |
T |
C |
17: 83,895,807 (GRCm39) |
I220V |
probably benign |
Het |
| Lce1j |
T |
G |
3: 92,696,379 (GRCm39) |
Q133P |
unknown |
Het |
| Lgals9 |
C |
T |
11: 78,854,331 (GRCm39) |
A287T |
probably benign |
Het |
| Lrrc52 |
A |
G |
1: 167,294,296 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
A |
T |
10: 19,994,187 (GRCm39) |
H1027L |
probably benign |
Het |
| Morc3 |
A |
G |
16: 93,659,313 (GRCm39) |
D407G |
possibly damaging |
Het |
| Myom1 |
T |
C |
17: 71,415,690 (GRCm39) |
|
probably null |
Het |
| Ncapg2 |
T |
C |
12: 116,401,631 (GRCm39) |
F673S |
possibly damaging |
Het |
| Ncoa6 |
T |
C |
2: 155,249,368 (GRCm39) |
D1312G |
probably damaging |
Het |
| Nkx1-1 |
A |
T |
5: 33,588,395 (GRCm39) |
F298I |
probably damaging |
Het |
| Npas2 |
G |
A |
1: 39,326,557 (GRCm39) |
R14Q |
probably damaging |
Het |
| Npas4 |
C |
T |
19: 5,036,898 (GRCm39) |
C422Y |
probably damaging |
Het |
| Or11h4 |
T |
C |
14: 50,974,076 (GRCm39) |
D181G |
probably benign |
Het |
| Or2y11 |
T |
A |
11: 49,443,411 (GRCm39) |
I279N |
possibly damaging |
Het |
| Or4c123 |
A |
G |
2: 89,126,765 (GRCm39) |
L283S |
probably damaging |
Het |
| Or5p4 |
T |
C |
7: 107,680,493 (GRCm39) |
V164A |
probably benign |
Het |
| Pcdhga4 |
T |
C |
18: 37,819,546 (GRCm39) |
I365T |
probably damaging |
Het |
| Pear1 |
T |
A |
3: 87,666,875 (GRCm39) |
T37S |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,559,454 (GRCm39) |
F24I |
probably benign |
Het |
| Plcb3 |
G |
A |
19: 6,943,533 (GRCm39) |
A122V |
probably damaging |
Het |
| Pnliprp1 |
T |
C |
19: 58,718,565 (GRCm39) |
|
probably null |
Het |
| Pramel28 |
T |
A |
4: 143,691,712 (GRCm39) |
H337L |
probably benign |
Het |
| Psmb3 |
T |
A |
11: 97,603,278 (GRCm39) |
F164I |
probably damaging |
Het |
| Ptch2 |
T |
A |
4: 116,954,105 (GRCm39) |
F45Y |
probably damaging |
Het |
| Ptpn23 |
C |
A |
9: 110,216,849 (GRCm39) |
|
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,975,005 (GRCm39) |
S199P |
probably damaging |
Het |
| Rasgrp2 |
C |
A |
19: 6,452,531 (GRCm39) |
L35I |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,823,458 (GRCm39) |
L1545P |
probably benign |
Het |
| Rtn4r |
A |
T |
16: 17,969,258 (GRCm39) |
M229L |
probably benign |
Het |
| Ruvbl1 |
A |
T |
6: 88,456,107 (GRCm39) |
|
probably null |
Het |
| Slc35b3 |
A |
T |
13: 39,128,572 (GRCm39) |
S30T |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,387,136 (GRCm39) |
V207A |
possibly damaging |
Het |
| Sox13 |
A |
G |
1: 133,321,005 (GRCm39) |
S2P |
probably damaging |
Het |
| Sptbn1 |
A |
C |
11: 30,087,403 (GRCm39) |
L999R |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,555,317 (GRCm39) |
V1015A |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,709,373 (GRCm39) |
L687P |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 43,995,649 (GRCm39) |
V268E |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,784,402 (GRCm39) |
Y1824H |
possibly damaging |
Het |
| Txk |
A |
G |
5: 72,858,069 (GRCm39) |
Y360H |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,078,114 (GRCm39) |
I115V |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,286,143 (GRCm39) |
S214P |
possibly damaging |
Het |
| Zbtb48 |
T |
C |
4: 152,106,495 (GRCm39) |
|
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,133,319 (GRCm39) |
I126V |
possibly damaging |
Het |
|
| Other mutations in Ankrd36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Ankrd36
|
APN |
11 |
5,570,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01361:Ankrd36
|
APN |
11 |
5,546,706 (GRCm39) |
splice site |
probably benign |
|
|
IGL01370:Ankrd36
|
APN |
11 |
5,534,019 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01384:Ankrd36
|
APN |
11 |
5,578,348 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01484:Ankrd36
|
APN |
11 |
5,579,006 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01524:Ankrd36
|
APN |
11 |
5,585,092 (GRCm39) |
missense |
probably benign |
|
|
IGL01700:Ankrd36
|
APN |
11 |
5,582,198 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02322:Ankrd36
|
APN |
11 |
5,564,619 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02511:Ankrd36
|
APN |
11 |
5,610,845 (GRCm39) |
splice site |
probably null |
|
|
IGL02824:Ankrd36
|
APN |
11 |
5,524,246 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03204:Ankrd36
|
APN |
11 |
5,534,023 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
PIT4508001:Ankrd36
|
UTSW |
11 |
5,557,137 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0058:Ankrd36
|
UTSW |
11 |
5,580,691 (GRCm39) |
splice site |
probably benign |
|
|
R0058:Ankrd36
|
UTSW |
11 |
5,580,691 (GRCm39) |
splice site |
probably benign |
|
|
R0304:Ankrd36
|
UTSW |
11 |
5,578,981 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0504:Ankrd36
|
UTSW |
11 |
5,579,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0550:Ankrd36
|
UTSW |
11 |
5,557,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0563:Ankrd36
|
UTSW |
11 |
5,579,322 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0891:Ankrd36
|
UTSW |
11 |
5,637,316 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1018:Ankrd36
|
UTSW |
11 |
5,596,876 (GRCm39) |
unclassified |
probably benign |
|
|
R1468:Ankrd36
|
UTSW |
11 |
5,525,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1468:Ankrd36
|
UTSW |
11 |
5,525,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1558:Ankrd36
|
UTSW |
11 |
5,585,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1663:Ankrd36
|
UTSW |
11 |
5,570,126 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1682:Ankrd36
|
UTSW |
11 |
5,557,143 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1898:Ankrd36
|
UTSW |
11 |
5,525,683 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2019:Ankrd36
|
UTSW |
11 |
5,639,140 (GRCm39) |
missense |
probably benign |
|
|
R2032:Ankrd36
|
UTSW |
11 |
5,578,616 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2084:Ankrd36
|
UTSW |
11 |
5,612,378 (GRCm39) |
nonsense |
probably null |
|
|
R4097:Ankrd36
|
UTSW |
11 |
5,578,703 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4572:Ankrd36
|
UTSW |
11 |
5,639,340 (GRCm39) |
splice site |
probably null |
|
|
R4601:Ankrd36
|
UTSW |
11 |
5,520,102 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4770:Ankrd36
|
UTSW |
11 |
5,540,870 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4777:Ankrd36
|
UTSW |
11 |
5,557,120 (GRCm39) |
missense |
probably benign |
|
|
R4894:Ankrd36
|
UTSW |
11 |
5,585,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5288:Ankrd36
|
UTSW |
11 |
5,639,340 (GRCm39) |
unclassified |
probably benign |
|
|
R5366:Ankrd36
|
UTSW |
11 |
5,542,841 (GRCm39) |
nonsense |
probably null |
|
|
R5384:Ankrd36
|
UTSW |
11 |
5,639,340 (GRCm39) |
unclassified |
probably benign |
|
|
R5385:Ankrd36
|
UTSW |
11 |
5,639,340 (GRCm39) |
unclassified |
probably benign |
|
|
R6109:Ankrd36
|
UTSW |
11 |
5,578,941 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6186:Ankrd36
|
UTSW |
11 |
5,593,812 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6289:Ankrd36
|
UTSW |
11 |
5,578,837 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6476:Ankrd36
|
UTSW |
11 |
5,578,753 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6816:Ankrd36
|
UTSW |
11 |
5,593,765 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6880:Ankrd36
|
UTSW |
11 |
5,578,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6919:Ankrd36
|
UTSW |
11 |
5,579,299 (GRCm39) |
missense |
probably benign |
|
|
R7007:Ankrd36
|
UTSW |
11 |
5,639,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7515:Ankrd36
|
UTSW |
11 |
5,578,905 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7617:Ankrd36
|
UTSW |
11 |
5,637,348 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7684:Ankrd36
|
UTSW |
11 |
5,520,113 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7746:Ankrd36
|
UTSW |
11 |
5,637,451 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7783:Ankrd36
|
UTSW |
11 |
5,585,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7790:Ankrd36
|
UTSW |
11 |
5,585,176 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8221:Ankrd36
|
UTSW |
11 |
5,534,016 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8671:Ankrd36
|
UTSW |
11 |
5,579,312 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8732:Ankrd36
|
UTSW |
11 |
5,578,906 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8768:Ankrd36
|
UTSW |
11 |
5,593,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9026:Ankrd36
|
UTSW |
11 |
5,610,696 (GRCm39) |
missense |
probably benign |
|
|
R9093:Ankrd36
|
UTSW |
11 |
5,589,132 (GRCm39) |
missense |
probably benign |
|
|
R9211:Ankrd36
|
UTSW |
11 |
5,612,370 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9300:Ankrd36
|
UTSW |
11 |
5,519,979 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9644:Ankrd36
|
UTSW |
11 |
5,593,835 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
RF004:Ankrd36
|
UTSW |
11 |
5,612,411 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
U24488:Ankrd36
|
UTSW |
11 |
5,580,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ankrd36
|
UTSW |
11 |
5,565,538 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ankrd36
|
UTSW |
11 |
5,593,738 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Ankrd36
|
UTSW |
11 |
5,579,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Ankrd36
|
UTSW |
11 |
5,521,117 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTATACCTGACTAGTCTTGGTGC -3'
(R):5'- AGATGCAACGGATGTAACCC -3'
Sequencing Primer
(F):5'- GGTGCATATTCTTCACCTTAAAGC -3'
(R):5'- CACATTGCCAGTGTGCTGAAATG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation