Incidental Mutation 'R1898:Ankrd36'
| ID |
212141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd36
|
| Ensembl Gene |
ENSMUSG00000020481 |
| Gene Name |
ankyrin repeat domain 36 |
| Synonyms |
GC3, 1700012M14Rik, 1700008J08Rik |
| MMRRC Submission |
039918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1898 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
5519684-5639337 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5525683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 215
(I215T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109855]
[ENSMUST00000109856]
[ENSMUST00000118112]
|
| AlphaFold |
D3Z4K0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109855
AA Change: I215T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105481
Gene: ENSMUSG00000020481
AA Change: I215T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
29 |
62 |
5e-13 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109856
AA Change: I215T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: I215T
| 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: I215T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: I215T
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146773
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
C |
A |
4: 53,071,977 (GRCm39) |
R1195L |
probably benign |
Het |
| Abca14 |
A |
G |
7: 119,850,392 (GRCm39) |
Y748C |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,099,625 (GRCm39) |
F974S |
probably damaging |
Het |
| Acyp1 |
T |
C |
12: 85,335,114 (GRCm39) |
K2E |
probably benign |
Het |
| Ahcy |
T |
A |
2: 154,904,173 (GRCm39) |
S355C |
probably benign |
Het |
| AI182371 |
A |
G |
2: 34,990,661 (GRCm39) |
V12A |
probably damaging |
Het |
| Aox1 |
C |
T |
1: 58,117,601 (GRCm39) |
R828C |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,062,615 (GRCm39) |
I631F |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,712,532 (GRCm39) |
N789S |
possibly damaging |
Het |
| Brinp3 |
T |
G |
1: 146,776,987 (GRCm39) |
V478G |
possibly damaging |
Het |
| Cadm2 |
G |
A |
16: 66,612,271 (GRCm39) |
S106L |
probably damaging |
Het |
| Celf2 |
C |
T |
2: 6,608,975 (GRCm39) |
V95M |
probably damaging |
Het |
| Chka |
A |
T |
19: 3,942,205 (GRCm39) |
E404D |
probably damaging |
Het |
| Clec5a |
A |
C |
6: 40,558,870 (GRCm39) |
V72G |
probably benign |
Het |
| Cnn1 |
T |
C |
9: 22,012,560 (GRCm39) |
|
probably null |
Het |
| Coq6 |
A |
G |
12: 84,413,737 (GRCm39) |
E89G |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,754,485 (GRCm39) |
I538F |
possibly damaging |
Het |
| Crx |
G |
A |
7: 15,602,148 (GRCm39) |
P177S |
probably damaging |
Het |
| Cysltr2 |
G |
T |
14: 73,266,973 (GRCm39) |
P246T |
probably damaging |
Het |
| Decr1 |
A |
G |
4: 15,929,801 (GRCm39) |
I164T |
probably damaging |
Het |
| Dmtf1 |
A |
T |
5: 9,178,091 (GRCm39) |
V315E |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,275,874 (GRCm39) |
N2587S |
probably benign |
Het |
| E2f6 |
C |
A |
12: 16,874,581 (GRCm39) |
T221K |
probably benign |
Het |
| Fat3 |
T |
G |
9: 15,871,426 (GRCm39) |
D3655A |
probably damaging |
Het |
| Fbxw28 |
G |
A |
9: 109,152,452 (GRCm39) |
T384I |
probably benign |
Het |
| Fes |
T |
A |
7: 80,029,659 (GRCm39) |
I608F |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Gabrb2 |
A |
G |
11: 42,484,659 (GRCm39) |
K239E |
possibly damaging |
Het |
| Gen1 |
T |
C |
12: 11,291,609 (GRCm39) |
R727G |
probably benign |
Het |
| Glb1 |
T |
A |
9: 114,253,103 (GRCm39) |
V184E |
probably damaging |
Het |
| Gngt1 |
A |
T |
6: 3,996,724 (GRCm39) |
I57F |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,750,426 (GRCm39) |
I87V |
possibly damaging |
Het |
| Itih1 |
A |
G |
14: 30,654,244 (GRCm39) |
Y674H |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,696,468 (GRCm39) |
C24S |
probably damaging |
Het |
| Loxl1 |
A |
G |
9: 58,204,961 (GRCm39) |
V418A |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,662,732 (GRCm39) |
N595S |
probably damaging |
Het |
| Myo5c |
C |
T |
9: 75,204,908 (GRCm39) |
T1587I |
probably damaging |
Het |
| Npat |
T |
A |
9: 53,474,937 (GRCm39) |
F910I |
probably damaging |
Het |
| Nradd |
T |
C |
9: 110,450,676 (GRCm39) |
Y167C |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,189,631 (GRCm39) |
E352G |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,641,927 (GRCm39) |
|
probably null |
Het |
| Odc1 |
T |
A |
12: 17,598,842 (GRCm39) |
S241T |
probably damaging |
Het |
| Or11g2 |
A |
T |
14: 50,856,231 (GRCm39) |
D184V |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,516 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,722,615 (GRCm39) |
D951G |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,484,408 (GRCm39) |
F685L |
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,943,796 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
C |
T |
4: 143,677,298 (GRCm39) |
V94M |
probably damaging |
Het |
| Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,269,039 (GRCm39) |
T1542S |
probably benign |
Het |
| Sct |
A |
T |
7: 140,858,761 (GRCm39) |
L57Q |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,082,317 (GRCm39) |
S316G |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,062,613 (GRCm39) |
L1240S |
probably damaging |
Het |
| Slc4a1 |
C |
T |
11: 102,241,133 (GRCm39) |
E924K |
probably damaging |
Het |
| Sp7 |
A |
T |
15: 102,267,453 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Srebf2 |
A |
G |
15: 82,087,936 (GRCm39) |
T219A |
probably damaging |
Het |
| Tenm3 |
G |
T |
8: 48,763,796 (GRCm39) |
P753T |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,523,053 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,742,466 (GRCm39) |
S2675T |
possibly damaging |
Het |
| Tspan12 |
T |
C |
6: 21,795,693 (GRCm39) |
T166A |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,736,641 (GRCm39) |
D1122G |
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,550 (GRCm39) |
A41T |
probably damaging |
Het |
| Xpo7 |
A |
T |
14: 70,933,064 (GRCm39) |
F276Y |
probably benign |
Het |
| Zdhhc1 |
A |
T |
8: 106,205,378 (GRCm39) |
|
probably null |
Het |
| Zfp319 |
C |
A |
8: 96,055,417 (GRCm39) |
C262F |
probably damaging |
Het |
| Zfp442 |
C |
T |
2: 150,250,582 (GRCm39) |
C383Y |
probably damaging |
Het |
| Zfp57 |
G |
T |
17: 37,320,650 (GRCm39) |
R168L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACTTGGTGAGACATAGCTG -3'
(R):5'- TCCCCAGAATGAACTGTGTAC -3'
Sequencing Primer
(F):5'- GGTCCACATAGTGATTACCAGTCAG -3'
(R):5'- CCAGAATGAACTGTGTACTTTCATTG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation