Incidental Mutation 'R4777:Ankrd36'
| ID |
368039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd36
|
| Ensembl Gene |
ENSMUSG00000020481 |
| Gene Name |
ankyrin repeat domain 36 |
| Synonyms |
GC3, 1700012M14Rik, 1700008J08Rik |
| MMRRC Submission |
041992-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R4777 (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 5557120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 356
(V356A)
|
| 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: V324A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: V324A
| 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: V356A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: V356A
| 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: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
C |
3: 137,771,503 (GRCm39) |
S231R |
probably benign |
Het |
| 5730455P16Rik |
A |
T |
11: 80,265,041 (GRCm39) |
I137N |
probably damaging |
Het |
| Abhd10 |
G |
A |
16: 45,557,279 (GRCm39) |
Q176* |
probably null |
Het |
| Acer3 |
T |
C |
7: 97,910,804 (GRCm39) |
Y86C |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,502,312 (GRCm39) |
|
probably null |
Het |
| Bmp8b |
G |
A |
4: 123,015,793 (GRCm39) |
R260Q |
possibly damaging |
Het |
| C2cd3 |
T |
A |
7: 100,065,539 (GRCm39) |
V775D |
possibly damaging |
Het |
| Cacna1b |
T |
A |
2: 24,622,337 (GRCm39) |
I216F |
probably damaging |
Het |
| Capn5 |
T |
A |
7: 97,780,925 (GRCm39) |
N284I |
probably damaging |
Het |
| Cbr1 |
C |
A |
16: 93,406,942 (GRCm39) |
D219E |
probably benign |
Het |
| Cdca2 |
C |
T |
14: 67,950,589 (GRCm39) |
R114Q |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 109,922,055 (GRCm39) |
W49* |
probably null |
Het |
| Cep152 |
C |
T |
2: 125,406,015 (GRCm39) |
V1506I |
probably benign |
Het |
| Cfap97 |
C |
T |
8: 46,648,334 (GRCm39) |
Q537* |
probably null |
Het |
| Cpsf2 |
T |
A |
12: 101,963,091 (GRCm39) |
V385E |
probably damaging |
Het |
| Dse |
A |
G |
10: 34,029,584 (GRCm39) |
V502A |
possibly damaging |
Het |
| Fam171a1 |
T |
A |
2: 3,224,550 (GRCm39) |
F300L |
probably benign |
Het |
| Fnip1 |
T |
G |
11: 54,391,382 (GRCm39) |
N438K |
probably damaging |
Het |
| Fstl5 |
C |
T |
3: 76,500,807 (GRCm39) |
T412M |
probably damaging |
Het |
| Gm11938 |
T |
A |
11: 99,494,059 (GRCm39) |
Q12L |
unknown |
Het |
| Hcls1 |
G |
T |
16: 36,775,678 (GRCm39) |
A171S |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Hydin |
G |
T |
8: 111,137,096 (GRCm39) |
C633F |
probably damaging |
Het |
| Ica1 |
A |
T |
6: 8,644,145 (GRCm39) |
D381E |
probably benign |
Het |
| Ift74 |
A |
G |
4: 94,541,234 (GRCm39) |
K220E |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,882,600 (GRCm39) |
D2748E |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,300,104 (GRCm39) |
D396E |
probably benign |
Het |
| Impdh1 |
G |
T |
6: 29,205,201 (GRCm39) |
A200E |
possibly damaging |
Het |
| Itga4 |
C |
T |
2: 79,144,054 (GRCm39) |
T647I |
possibly damaging |
Het |
| Jpt1 |
A |
T |
11: 115,391,497 (GRCm39) |
M104K |
probably benign |
Het |
| Krt73 |
C |
A |
15: 101,702,436 (GRCm39) |
A476S |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,546,828 (GRCm39) |
Y363H |
probably damaging |
Het |
| Lgr4 |
C |
T |
2: 109,827,027 (GRCm39) |
P177L |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,312,608 (GRCm39) |
D2560G |
probably damaging |
Het |
| Ly6m |
T |
C |
15: 74,752,532 (GRCm39) |
N48S |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,270,295 (GRCm39) |
F6617I |
probably damaging |
Het |
| Mcf2l |
T |
A |
8: 13,068,051 (GRCm39) |
|
probably null |
Het |
| Mcub |
T |
A |
3: 129,763,600 (GRCm39) |
Q42L |
probably damaging |
Het |
| Mfsd9 |
C |
T |
1: 40,820,700 (GRCm39) |
V150I |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,770,478 (GRCm39) |
V96A |
probably damaging |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Or10aa3 |
T |
G |
1: 173,878,244 (GRCm39) |
Y102D |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,933,994 (GRCm39) |
F102L |
possibly damaging |
Het |
| Or1r1 |
A |
G |
11: 73,875,221 (GRCm39) |
V71A |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,340,515 (GRCm39) |
V633A |
probably damaging |
Het |
| Pinlyp |
T |
A |
7: 24,241,568 (GRCm39) |
I153F |
possibly damaging |
Het |
| Plk2 |
A |
C |
13: 110,534,307 (GRCm39) |
M296L |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,960,630 (GRCm39) |
Y262C |
probably benign |
Het |
| Ppfia3 |
C |
A |
7: 44,990,581 (GRCm39) |
G1066V |
probably damaging |
Het |
| Prokr1 |
A |
G |
6: 87,565,842 (GRCm39) |
M1T |
probably null |
Het |
| Ptgs2 |
G |
T |
1: 149,981,138 (GRCm39) |
A474S |
probably benign |
Het |
| Pth2r |
A |
G |
1: 65,427,676 (GRCm39) |
T450A |
possibly damaging |
Het |
| Ranbp6 |
A |
T |
19: 29,789,037 (GRCm39) |
F438L |
probably damaging |
Het |
| Ripor1 |
A |
T |
8: 106,341,622 (GRCm39) |
Q102L |
probably damaging |
Het |
| Rprd2 |
C |
T |
3: 95,694,686 (GRCm39) |
V116I |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,449,258 (GRCm39) |
V3768A |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,913,832 (GRCm39) |
Y1075H |
probably damaging |
Het |
| Senp3 |
C |
T |
11: 69,569,063 (GRCm39) |
G366D |
probably damaging |
Het |
| Smim1 |
T |
C |
4: 154,108,107 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,886,447 (GRCm39) |
I817V |
probably damaging |
Het |
| Stag3 |
A |
T |
5: 138,307,461 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,810,867 (GRCm39) |
H79Q |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,088,813 (GRCm39) |
K1296E |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,331 (GRCm39) |
Y330* |
probably null |
Het |
| Tnxb |
G |
T |
17: 34,890,917 (GRCm39) |
R420L |
probably damaging |
Het |
| Trim9 |
C |
A |
12: 70,393,845 (GRCm39) |
C33F |
probably damaging |
Het |
| Usp29 |
A |
C |
7: 6,965,747 (GRCm39) |
Y530S |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,921,752 (GRCm39) |
T258A |
possibly damaging |
Het |
| Vrtn |
C |
A |
12: 84,695,600 (GRCm39) |
H117N |
probably damaging |
Het |
| Wdr33 |
C |
T |
18: 32,014,301 (GRCm39) |
H388Y |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,821,186 (GRCm39) |
V222D |
possibly damaging |
Het |
| Zfp953 |
A |
G |
13: 67,491,193 (GRCm39) |
I253T |
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,116,194 (GRCm39) |
V282A |
probably benign |
Het |
| Zscan29 |
A |
T |
2: 120,999,805 (GRCm39) |
V132D |
probably damaging |
Het |
| Zswim4 |
G |
T |
8: 84,963,586 (GRCm39) |
D16E |
probably benign |
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 |
|
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'- TTCTAAGTGGCATGGAAGGC -3'
(R):5'- GAGGAACTGATCGGGATTCCATG -3'
Sequencing Primer
(F):5'- AAGGCTCACTCACAGGTGTTG -3'
(R):5'- GAACTGATCGGGATTCCATGTCTTC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation