Incidental Mutation 'IGL00087:Ankrd36'
| ID |
1201 |
| 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 # |
IGL00087
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
5519684-5639337 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 5570131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 533
(Y533S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109856]
[ENSMUST00000118112]
|
| AlphaFold |
D3Z4K0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109856
AA Change: Y501S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: Y501S
| 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 |
probably benign
Transcript: ENSMUST00000118112
AA Change: Y533S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: Y533S
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
C |
A |
3: 121,473,282 (GRCm39) |
|
probably benign |
Het |
| Actr2 |
C |
A |
11: 20,044,370 (GRCm39) |
V79L |
probably benign |
Het |
| Btnl1 |
A |
T |
17: 34,600,091 (GRCm39) |
D198V |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,418,038 (GRCm39) |
I684N |
probably benign |
Het |
| Cdk17 |
T |
A |
10: 93,062,633 (GRCm39) |
V257D |
probably damaging |
Het |
| Ctsj |
T |
G |
13: 61,149,232 (GRCm39) |
S271R |
possibly damaging |
Het |
| Cul9 |
T |
A |
17: 46,836,635 (GRCm39) |
Q1130L |
probably damaging |
Het |
| Daam1 |
G |
T |
12: 71,988,993 (GRCm39) |
S131I |
unknown |
Het |
| Dab1 |
G |
A |
4: 104,536,007 (GRCm39) |
V139M |
probably damaging |
Het |
| Dab1 |
A |
T |
4: 104,535,950 (GRCm39) |
I120F |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,383,498 (GRCm39) |
V1142A |
possibly damaging |
Het |
| Dsg1b |
C |
T |
18: 20,529,533 (GRCm39) |
T326I |
probably damaging |
Het |
| Eif3k |
A |
C |
7: 28,674,101 (GRCm39) |
|
probably benign |
Het |
| Fam76b |
T |
C |
9: 13,748,180 (GRCm39) |
V3A |
possibly damaging |
Het |
| Fitm2 |
A |
G |
2: 163,311,712 (GRCm39) |
V167A |
probably benign |
Het |
| Gfap |
T |
A |
11: 102,779,544 (GRCm39) |
I418F |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,779,989 (GRCm39) |
V1143A |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,298,510 (GRCm39) |
I317T |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,945,022 (GRCm39) |
L581Q |
possibly damaging |
Het |
| Kcnn2 |
A |
C |
18: 45,725,303 (GRCm39) |
R266S |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,928,222 (GRCm39) |
S1240T |
probably benign |
Het |
| Lmnb2 |
T |
C |
10: 80,739,871 (GRCm39) |
D490G |
possibly damaging |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Or3a1b |
A |
T |
11: 74,012,705 (GRCm39) |
I197F |
probably benign |
Het |
| Pax9 |
A |
G |
12: 56,746,860 (GRCm39) |
N232S |
probably benign |
Het |
| Pdcd6ip |
A |
G |
9: 113,526,586 (GRCm39) |
S108P |
possibly damaging |
Het |
| Pitpnc1 |
T |
C |
11: 107,103,469 (GRCm39) |
E210G |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,272,108 (GRCm39) |
|
probably benign |
Het |
| Prl4a1 |
G |
A |
13: 28,205,443 (GRCm39) |
G136E |
probably damaging |
Het |
| Pstpip2 |
A |
G |
18: 77,961,994 (GRCm39) |
S255G |
probably benign |
Het |
| Rimbp3 |
T |
G |
16: 17,027,607 (GRCm39) |
S344A |
probably benign |
Het |
| Rint1 |
A |
G |
5: 23,999,429 (GRCm39) |
T73A |
probably benign |
Het |
| Rnf145 |
T |
C |
11: 44,446,039 (GRCm39) |
V291A |
possibly damaging |
Het |
| Rrm1 |
T |
A |
7: 102,103,714 (GRCm39) |
L221* |
probably null |
Het |
| Scn11a |
A |
G |
9: 119,599,572 (GRCm39) |
L1114P |
probably benign |
Het |
| Slc44a4 |
A |
G |
17: 35,149,216 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
A |
C |
9: 41,885,390 (GRCm39) |
N2070K |
probably damaging |
Het |
| Spaca7 |
C |
T |
8: 12,630,941 (GRCm39) |
|
probably benign |
Het |
| Speer1k |
C |
T |
5: 10,997,805 (GRCm39) |
|
probably benign |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Srsf6 |
G |
T |
2: 162,773,627 (GRCm39) |
V13F |
probably damaging |
Het |
| Stab1 |
G |
T |
14: 30,883,314 (GRCm39) |
T336N |
probably benign |
Het |
| Strbp |
A |
G |
2: 37,476,516 (GRCm39) |
|
probably benign |
Het |
| Tbc1d4 |
A |
G |
14: 101,845,548 (GRCm39) |
F117L |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,739,096 (GRCm39) |
V785A |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,327,031 (GRCm39) |
K580E |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,192,633 (GRCm39) |
E4225D |
possibly damaging |
Het |
| Uck1 |
A |
T |
2: 32,149,681 (GRCm39) |
V66D |
probably damaging |
Het |
| Vmn2r25 |
A |
G |
6: 123,830,130 (GRCm39) |
F7S |
probably benign |
Het |
| Zan |
C |
T |
5: 137,386,082 (GRCm39) |
|
probably null |
Het |
| Zfp819 |
T |
A |
7: 43,261,403 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ankrd36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2011-07-12 |
Incidental Mutation