Incidental Mutation 'R1663:Ankrd36'
| ID |
186947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd36
|
| Ensembl Gene |
ENSMUSG00000020481 |
| Gene Name |
ankyrin repeat domain 36 |
| Synonyms |
GC3, 1700012M14Rik, 1700008J08Rik |
| MMRRC Submission |
039699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R1663 (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 A
at 5570126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 531
(D531E)
|
| 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: D499E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: D499E
| 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: D531E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: D531E
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,177,949 (GRCm39) |
T11S |
probably benign |
Het |
| Adgb |
T |
C |
10: 10,215,419 (GRCm39) |
M1529V |
possibly damaging |
Het |
| Ankzf1 |
C |
T |
1: 75,172,914 (GRCm39) |
P337S |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,401,378 (GRCm39) |
I55V |
probably damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,038 (GRCm39) |
D21G |
possibly damaging |
Het |
| Apol10b |
A |
T |
15: 77,472,914 (GRCm39) |
F47I |
probably damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,253,899 (GRCm39) |
A1131T |
probably damaging |
Het |
| Arrb2 |
A |
T |
11: 70,328,429 (GRCm39) |
Q83L |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,580,322 (GRCm39) |
Q1082R |
possibly damaging |
Het |
| Atl2 |
A |
G |
17: 80,172,140 (GRCm39) |
S28P |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,084,651 (GRCm39) |
K89E |
possibly damaging |
Het |
| Cc2d1b |
A |
G |
4: 108,480,744 (GRCm39) |
T55A |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,363,956 (GRCm39) |
E1217G |
probably damaging |
Het |
| Cdc42ep4 |
A |
T |
11: 113,620,277 (GRCm39) |
M38K |
probably damaging |
Het |
| Cldn14 |
A |
G |
16: 93,716,166 (GRCm39) |
S227P |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,459,768 (GRCm39) |
C332S |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,841,488 (GRCm39) |
S370P |
unknown |
Het |
| Comp |
T |
C |
8: 70,826,250 (GRCm39) |
L10P |
possibly damaging |
Het |
| Dcc |
A |
T |
18: 71,959,123 (GRCm39) |
N216K |
probably damaging |
Het |
| Dcstamp |
C |
T |
15: 39,618,340 (GRCm39) |
Q250* |
probably null |
Het |
| Drd5 |
T |
C |
5: 38,478,198 (GRCm39) |
F397S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,202,466 (GRCm39) |
S265P |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,193,230 (GRCm39) |
Q574R |
probably benign |
Het |
| Enam |
A |
T |
5: 88,651,853 (GRCm39) |
S1046C |
probably damaging |
Het |
| Eno3 |
T |
C |
11: 70,553,100 (GRCm39) |
|
probably null |
Het |
| Fam13a |
G |
A |
6: 58,931,357 (GRCm39) |
R408* |
probably null |
Het |
| Gipc2 |
T |
A |
3: 151,799,801 (GRCm39) |
M310L |
probably benign |
Het |
| Gm14496 |
T |
C |
2: 181,639,230 (GRCm39) |
V440A |
probably benign |
Het |
| Gzmg |
A |
T |
14: 56,394,265 (GRCm39) |
C210S |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,941,338 (GRCm39) |
A450E |
probably damaging |
Het |
| Hepacam2 |
A |
T |
6: 3,483,439 (GRCm39) |
I190N |
possibly damaging |
Het |
| Hk3 |
A |
T |
13: 55,154,388 (GRCm39) |
S773T |
probably benign |
Het |
| Hnrnpc |
A |
G |
14: 52,312,852 (GRCm39) |
S221P |
probably damaging |
Het |
| Ifna9 |
T |
C |
4: 88,510,220 (GRCm39) |
T135A |
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,896,046 (GRCm39) |
G1507R |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,037,349 (GRCm39) |
T218A |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,498,964 (GRCm39) |
R337S |
possibly damaging |
Het |
| Krt74 |
A |
T |
15: 101,665,109 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp1 |
A |
T |
10: 127,392,790 (GRCm39) |
D2758E |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,144,578 (GRCm39) |
E1295G |
probably damaging |
Het |
| Mccc1 |
C |
A |
3: 36,033,082 (GRCm39) |
W354L |
probably damaging |
Het |
| Mmp1a |
C |
T |
9: 7,465,657 (GRCm39) |
T198M |
probably benign |
Het |
| Mtmr2 |
C |
T |
9: 13,714,797 (GRCm39) |
T519I |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,553,407 (GRCm39) |
S2632P |
possibly damaging |
Het |
| Nbn |
T |
A |
4: 15,970,903 (GRCm39) |
D295E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,538,820 (GRCm39) |
Y167C |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,913,478 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,375,093 (GRCm39) |
G407D |
probably damaging |
Het |
| Nucb1 |
A |
G |
7: 45,148,288 (GRCm39) |
F175S |
probably damaging |
Het |
| Or1l8 |
T |
G |
2: 36,817,346 (GRCm39) |
Y260S |
probably damaging |
Het |
| Or6c6c |
G |
A |
10: 129,541,160 (GRCm39) |
V138M |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,900,006 (GRCm39) |
C241S |
probably damaging |
Het |
| Or8b44 |
T |
G |
9: 38,410,868 (GRCm39) |
I301R |
unknown |
Het |
| Pip5k1c |
T |
C |
10: 81,148,349 (GRCm39) |
V425A |
probably damaging |
Het |
| Pnisr |
T |
A |
4: 21,873,857 (GRCm39) |
|
probably benign |
Het |
| Prkag1 |
A |
G |
15: 98,713,776 (GRCm39) |
V18A |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,559,050 (GRCm39) |
N1063S |
probably benign |
Het |
| Rnf170 |
C |
T |
8: 26,619,171 (GRCm39) |
H132Y |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,328,498 (GRCm39) |
D1977G |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
| Setx |
T |
A |
2: 29,016,917 (GRCm39) |
C7S |
probably damaging |
Het |
| Slc23a2 |
A |
G |
2: 131,907,384 (GRCm39) |
I417T |
probably damaging |
Het |
| Spink6 |
T |
G |
18: 44,204,588 (GRCm39) |
F18C |
unknown |
Het |
| Sptbn1 |
T |
C |
11: 30,070,783 (GRCm39) |
Q1538R |
possibly damaging |
Het |
| Strn3 |
A |
G |
12: 51,699,609 (GRCm39) |
Y188H |
probably damaging |
Het |
| Tecpr1 |
C |
A |
5: 144,134,762 (GRCm39) |
K1040N |
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,470,720 (GRCm39) |
Y901F |
probably benign |
Het |
| Tmem81 |
C |
T |
1: 132,435,635 (GRCm39) |
A147V |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,565,758 (GRCm39) |
D532G |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,411 (GRCm39) |
I827N |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,070,000 (GRCm39) |
K857R |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,582,569 (GRCm39) |
T406A |
probably benign |
Het |
| Zfp52 |
T |
C |
17: 21,782,084 (GRCm39) |
L644P |
possibly damaging |
Het |
| Zfp605 |
G |
A |
5: 110,275,451 (GRCm39) |
V190I |
probably benign |
Het |
| Zfp964 |
A |
G |
8: 70,116,733 (GRCm39) |
|
probably null |
Het |
| Zmynd8 |
A |
G |
2: 165,649,805 (GRCm39) |
S779P |
probably benign |
Het |
| Zswim5 |
T |
A |
4: 116,844,092 (GRCm39) |
N1043K |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTGCACTCAGTAACACTTCCCATTT -3'
(R):5'- TGAGAGACCCAAGTAGAAACCTACTGAC -3'
Sequencing Primer
(F):5'- TTACAGATGTCCCTCATAAGACCAG -3'
(R):5'- CTGACTGATTCTAACTATGTCGGATG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation