Incidental Mutation 'R1018:Ankrd36'
ID |
96628 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd36
|
Ensembl Gene |
ENSMUSG00000020481 |
Gene Name |
ankyrin repeat domain 36 |
Synonyms |
GC3, 1700012M14Rik, 1700008J08Rik |
MMRRC Submission |
039122-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R1018 (G1)
|
Quality Score |
178 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
5519684-5639337 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 5596876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109856]
[ENSMUST00000118112]
[ENSMUST00000137933]
|
AlphaFold |
D3Z4K0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109856
|
SMART Domains |
Protein: ENSMUSP00000105482 Gene: ENSMUSG00000020481
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
|
SMART Domains |
Protein: ENSMUSP00000122397 Gene: ENSMUSG00000020481
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 |
probably benign
Transcript: ENSMUST00000137933
|
SMART Domains |
Protein: ENSMUSP00000120499 Gene: ENSMUSG00000020481
Domain | Start | End | E-Value | Type |
low complexity region
|
463 |
476 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
T |
10: 79,837,325 (GRCm39) |
C403F |
probably damaging |
Het |
Adam20 |
C |
T |
8: 41,249,146 (GRCm39) |
Q419* |
probably null |
Het |
Arl8b |
T |
A |
6: 108,795,572 (GRCm39) |
I170K |
probably damaging |
Het |
Atp5pb |
A |
T |
3: 105,861,488 (GRCm39) |
V78E |
possibly damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cgnl1 |
A |
G |
9: 71,633,340 (GRCm39) |
Y4H |
probably damaging |
Het |
Cnn2 |
T |
C |
10: 79,829,397 (GRCm39) |
C176R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,233,174 (GRCm39) |
D3392G |
probably damaging |
Het |
Eed |
T |
C |
7: 89,617,019 (GRCm39) |
|
probably benign |
Het |
Efl1 |
T |
A |
7: 82,412,221 (GRCm39) |
V870E |
possibly damaging |
Het |
Epx |
T |
C |
11: 87,760,129 (GRCm39) |
N495S |
probably benign |
Het |
Fbxw20 |
T |
A |
9: 109,050,404 (GRCm39) |
Y407F |
probably benign |
Het |
Gbp9 |
T |
A |
5: 105,228,126 (GRCm39) |
Q552L |
probably benign |
Het |
Hspa13 |
C |
A |
16: 75,558,164 (GRCm39) |
V134L |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,323,746 (GRCm39) |
N268S |
probably damaging |
Het |
Kif14 |
G |
A |
1: 136,423,579 (GRCm39) |
|
probably benign |
Het |
Lrig1 |
G |
A |
6: 94,599,583 (GRCm39) |
|
probably benign |
Het |
Myo7a |
T |
A |
7: 97,756,212 (GRCm39) |
D29V |
probably damaging |
Het |
Nsd2 |
A |
G |
5: 34,000,585 (GRCm39) |
K34R |
probably damaging |
Het |
Or4a15 |
C |
A |
2: 89,193,523 (GRCm39) |
L83F |
possibly damaging |
Het |
P3h1 |
C |
A |
4: 119,095,104 (GRCm39) |
T287K |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,271,483 (GRCm39) |
H3023Q |
possibly damaging |
Het |
Plxna1 |
A |
G |
6: 89,319,942 (GRCm39) |
L535P |
probably damaging |
Het |
Prom1 |
A |
T |
5: 44,187,056 (GRCm39) |
S400R |
probably benign |
Het |
Psap |
T |
G |
10: 60,136,590 (GRCm39) |
L523R |
probably damaging |
Het |
Psme4 |
C |
T |
11: 30,754,310 (GRCm39) |
T189I |
probably damaging |
Het |
Ptpn12 |
A |
T |
5: 21,234,867 (GRCm39) |
S39T |
possibly damaging |
Het |
Qtrt2 |
T |
A |
16: 43,698,363 (GRCm39) |
H98L |
possibly damaging |
Het |
Rad54l2 |
C |
A |
9: 106,589,589 (GRCm39) |
C601F |
probably benign |
Het |
Saxo4 |
A |
T |
19: 10,456,824 (GRCm39) |
|
probably benign |
Het |
Sfswap |
A |
G |
5: 129,631,640 (GRCm39) |
K756R |
possibly damaging |
Het |
Slc24a5 |
T |
C |
2: 124,910,827 (GRCm39) |
V86A |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,041,514 (GRCm39) |
S2575P |
probably damaging |
Het |
Stam |
T |
C |
2: 14,122,185 (GRCm39) |
|
probably benign |
Het |
Tbx6 |
T |
A |
7: 126,382,364 (GRCm39) |
|
probably benign |
Het |
Tmem131 |
A |
C |
1: 36,833,900 (GRCm39) |
F1727V |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,317,934 (GRCm39) |
H2147Q |
possibly damaging |
Het |
Trio |
T |
A |
15: 27,871,257 (GRCm39) |
H620L |
probably damaging |
Het |
Uba5 |
T |
C |
9: 103,927,102 (GRCm39) |
T292A |
probably benign |
Het |
Unc5a |
T |
A |
13: 55,138,765 (GRCm39) |
V48E |
possibly damaging |
Het |
Upf1 |
G |
T |
8: 70,791,556 (GRCm39) |
H514Q |
possibly damaging |
Het |
Usp9y |
A |
G |
Y: 1,341,414 (GRCm39) |
|
probably benign |
Het |
Vmn2r6 |
T |
A |
3: 64,464,261 (GRCm39) |
D191V |
probably benign |
Het |
Wapl |
T |
C |
14: 34,413,863 (GRCm39) |
Y242H |
possibly damaging |
Het |
Zfp341 |
A |
T |
2: 154,487,972 (GRCm39) |
N812Y |
probably damaging |
Het |
Zfp358 |
C |
A |
8: 3,546,843 (GRCm39) |
S475* |
probably null |
Het |
Zfp957 |
C |
A |
14: 79,450,182 (GRCm39) |
C539F |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAATAAACAGGAGGTGTTGACTGGGGTA -3'
(R):5'- GAACCTGAACTCTTCCACGTTCTGTGA -3'
Sequencing Primer
(F):5'- CACCACTTCTGTGCATTTACTGC -3'
(R):5'- CCACGTTCTGTGACTCGG -3'
|
Posted On |
2014-01-05 |