Incidental Mutation 'IGL02322:Ankrd36'
| ID |
288267 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankrd36
|
| Ensembl Gene |
ENSMUSG00000020481 |
| Gene Name |
ankyrin repeat domain 36 |
| Synonyms |
GC3, 1700012M14Rik, 1700008J08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL02322
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5519684-5639337 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5564619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 479
(V479D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109856]
[ENSMUST00000118112]
|
| AlphaFold |
D3Z4K0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109856
AA Change: V447D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: V447D
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118112
AA Change: V479D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: V479D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
29 |
62 |
3e-12 |
BLAST |
|
ANK
|
66 |
95 |
2.9e-5 |
SMART |
|
ANK
|
99 |
128 |
9.4e-4 |
SMART |
|
ANK
|
132 |
161 |
2.9e-2 |
SMART |
|
ANK
|
165 |
194 |
1.5e-7 |
SMART |
|
ANK
|
198 |
227 |
2.9e-3 |
SMART |
|
internal_repeat_1
|
255 |
352 |
8.15e-5 |
PROSPERO |
|
internal_repeat_1
|
438 |
538 |
8.15e-5 |
PROSPERO |
|
low complexity region
|
1138 |
1151 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acd |
G |
A |
8: 106,425,268 (GRCm39) |
A355V |
probably benign |
Het |
| Adam9 |
A |
G |
8: 25,445,990 (GRCm39) |
V801A |
probably damaging |
Het |
| Arid5a |
C |
T |
1: 36,358,497 (GRCm39) |
P423L |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,258,920 (GRCm39) |
I650V |
probably benign |
Het |
| B4gat1 |
C |
A |
19: 5,089,155 (GRCm39) |
P51T |
possibly damaging |
Het |
| Caskin2 |
G |
A |
11: 115,695,303 (GRCm39) |
T310M |
probably damaging |
Het |
| Ccdc121rt1 |
A |
G |
1: 181,337,999 (GRCm39) |
S318P |
possibly damaging |
Het |
| Ccdc159 |
G |
T |
9: 21,840,669 (GRCm39) |
V79L |
possibly damaging |
Het |
| Ccser2 |
A |
T |
14: 36,631,086 (GRCm39) |
V18E |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,722,581 (GRCm39) |
V432A |
probably benign |
Het |
| Cdh11 |
A |
T |
8: 103,374,151 (GRCm39) |
F529Y |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,832,248 (GRCm39) |
E1370G |
probably damaging |
Het |
| Col22a1 |
C |
A |
15: 71,694,502 (GRCm39) |
G717C |
unknown |
Het |
| Csmd2 |
T |
C |
4: 128,357,520 (GRCm39) |
|
probably benign |
Het |
| Ctrb1 |
A |
C |
8: 112,415,951 (GRCm39) |
|
probably null |
Het |
| Cyp2b19 |
T |
C |
7: 26,461,803 (GRCm39) |
S208P |
possibly damaging |
Het |
| Dnmt3l |
T |
A |
10: 77,888,572 (GRCm39) |
I158N |
possibly damaging |
Het |
| Evi5l |
T |
C |
8: 4,237,236 (GRCm39) |
|
probably benign |
Het |
| Fkbpl |
A |
G |
17: 34,864,298 (GRCm39) |
E22G |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,894,676 (GRCm38) |
F825I |
probably damaging |
Het |
| Gjb6 |
A |
T |
14: 57,361,732 (GRCm39) |
N176K |
probably damaging |
Het |
| Gpc2 |
G |
T |
5: 138,274,499 (GRCm39) |
|
probably null |
Het |
| H1f7 |
T |
C |
15: 98,154,757 (GRCm39) |
T131A |
possibly damaging |
Het |
| Il20 |
C |
T |
1: 130,837,313 (GRCm39) |
C104Y |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,310,722 (GRCm39) |
N212S |
probably benign |
Het |
| Olfm5 |
C |
T |
7: 103,803,608 (GRCm39) |
G210D |
probably damaging |
Het |
| Olig2 |
T |
C |
16: 91,023,546 (GRCm39) |
S87P |
probably benign |
Het |
| Or2y15 |
A |
G |
11: 49,350,784 (GRCm39) |
S93G |
probably benign |
Het |
| Or4c121 |
T |
A |
2: 89,023,806 (GRCm39) |
T191S |
probably damaging |
Het |
| Osbpl7 |
G |
T |
11: 96,946,950 (GRCm39) |
A418S |
probably benign |
Het |
| Otog |
G |
T |
7: 45,950,881 (GRCm39) |
R2551L |
probably benign |
Het |
| Oxt |
A |
T |
2: 130,418,200 (GRCm39) |
N24I |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,448,419 (GRCm39) |
Y626C |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,896,894 (GRCm39) |
K934* |
probably null |
Het |
| Pramel14 |
G |
A |
4: 143,718,591 (GRCm39) |
|
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,783,110 (GRCm39) |
N57K |
probably damaging |
Het |
| Rapsn |
A |
G |
2: 90,872,251 (GRCm39) |
D195G |
possibly damaging |
Het |
| Rimbp3 |
T |
G |
16: 17,029,479 (GRCm39) |
F968V |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,387,499 (GRCm39) |
N1047S |
possibly damaging |
Het |
| Slc35g1 |
C |
T |
19: 38,389,013 (GRCm39) |
R107* |
probably null |
Het |
| Ssh2 |
A |
C |
11: 77,307,239 (GRCm39) |
|
probably null |
Het |
| Tiparp |
C |
A |
3: 65,439,441 (GRCm39) |
C70* |
probably null |
Het |
| Vmn2r110 |
A |
G |
17: 20,794,197 (GRCm39) |
I824T |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,570,687 (GRCm39) |
S402P |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,845,183 (GRCm39) |
E2089G |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,339,082 (GRCm39) |
H441L |
probably benign |
Het |
| Zdhhc3 |
C |
T |
9: 122,929,542 (GRCm39) |
G31D |
probably benign |
Het |
| Zfp330 |
A |
G |
8: 83,497,450 (GRCm39) |
L64S |
probably 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 |
|
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 |
|
R6155:Ankrd36
|
UTSW |
11 |
5,637,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation