Incidental Mutation 'IGL01837:Ankrd35'
ID |
154981 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ankrd35
|
Ensembl Gene |
ENSMUSG00000038354 |
Gene Name |
ankyrin repeat domain 35 |
Synonyms |
4732436F15Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01837
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
96577447-96598348 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 96587982 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 141
(D141A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047244
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048427]
[ENSMUST00000122960]
|
AlphaFold |
E9Q9D8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048427
AA Change: D141A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047244 Gene: ENSMUSG00000038354 AA Change: D141A
Domain | Start | End | E-Value | Type |
ANK
|
53 |
82 |
4.03e-5 |
SMART |
ANK
|
86 |
115 |
6.46e-4 |
SMART |
ANK
|
119 |
148 |
4.36e-1 |
SMART |
ANK
|
152 |
181 |
1.4e-4 |
SMART |
ANK
|
185 |
214 |
2.25e-3 |
SMART |
ANK
|
218 |
247 |
6.24e2 |
SMART |
coiled coil region
|
294 |
339 |
N/A |
INTRINSIC |
low complexity region
|
438 |
455 |
N/A |
INTRINSIC |
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
low complexity region
|
524 |
536 |
N/A |
INTRINSIC |
coiled coil region
|
606 |
653 |
N/A |
INTRINSIC |
coiled coil region
|
729 |
799 |
N/A |
INTRINSIC |
low complexity region
|
815 |
829 |
N/A |
INTRINSIC |
coiled coil region
|
847 |
956 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122960
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130429
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,627,671 (GRCm39) |
F1372L |
probably damaging |
Het |
Alcam |
T |
A |
16: 52,073,531 (GRCm39) |
N339I |
probably benign |
Het |
Apc2 |
A |
G |
10: 80,150,492 (GRCm39) |
I1820V |
probably benign |
Het |
Ccp110 |
T |
A |
7: 118,324,684 (GRCm39) |
|
probably null |
Het |
Copa |
T |
A |
1: 171,946,419 (GRCm39) |
D954E |
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,313,363 (GRCm39) |
I1347F |
possibly damaging |
Het |
Ddx10 |
A |
G |
9: 53,140,498 (GRCm39) |
I301T |
probably benign |
Het |
Defb23 |
T |
A |
2: 152,301,294 (GRCm39) |
M93L |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,970,565 (GRCm39) |
|
probably null |
Het |
Dok3 |
T |
C |
13: 55,671,383 (GRCm39) |
E396G |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,727,055 (GRCm39) |
M1318L |
probably benign |
Het |
Foxm1 |
T |
A |
6: 128,343,167 (GRCm39) |
|
probably benign |
Het |
Gm11992 |
A |
T |
11: 9,011,266 (GRCm39) |
R236W |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,734,452 (GRCm39) |
I1513V |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,951,759 (GRCm39) |
E25G |
possibly damaging |
Het |
Ighg2b |
C |
T |
12: 113,270,065 (GRCm39) |
E318K |
unknown |
Het |
Itga4 |
T |
C |
2: 79,145,349 (GRCm39) |
S722P |
probably damaging |
Het |
Kirrel3 |
G |
A |
9: 34,946,224 (GRCm39) |
R617H |
probably damaging |
Het |
Mboat1 |
A |
T |
13: 30,425,166 (GRCm39) |
H409L |
possibly damaging |
Het |
Naa15 |
A |
T |
3: 51,351,369 (GRCm39) |
K180* |
probably null |
Het |
Nccrp1 |
A |
G |
7: 28,246,191 (GRCm39) |
S124P |
probably damaging |
Het |
Nphp4 |
T |
C |
4: 152,573,338 (GRCm39) |
I92T |
probably damaging |
Het |
Or13a28 |
G |
A |
7: 140,218,124 (GRCm39) |
C170Y |
probably damaging |
Het |
Or6d14 |
C |
A |
6: 116,533,807 (GRCm39) |
Y140* |
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,356,798 (GRCm39) |
D741G |
possibly damaging |
Het |
Plcb2 |
C |
T |
2: 118,542,407 (GRCm39) |
|
probably null |
Het |
Pramel19 |
A |
G |
4: 101,798,650 (GRCm39) |
E207G |
probably damaging |
Het |
Prm2 |
G |
A |
16: 10,609,775 (GRCm39) |
|
probably null |
Het |
R3hdm1 |
C |
T |
1: 128,114,497 (GRCm39) |
Q184* |
probably null |
Het |
Rgl1 |
A |
T |
1: 152,424,901 (GRCm39) |
N359K |
probably damaging |
Het |
Rnf44 |
A |
G |
13: 54,829,966 (GRCm39) |
Y366H |
probably damaging |
Het |
Rpap2 |
G |
A |
5: 107,773,835 (GRCm39) |
|
probably null |
Het |
Ryr3 |
T |
C |
2: 112,631,665 (GRCm39) |
N2120S |
probably damaging |
Het |
Samd8 |
A |
G |
14: 21,825,027 (GRCm39) |
|
probably benign |
Het |
Sipa1 |
G |
T |
19: 5,702,099 (GRCm39) |
T937K |
probably damaging |
Het |
Sos1 |
A |
T |
17: 80,730,157 (GRCm39) |
D707E |
probably damaging |
Het |
Tas2r109 |
T |
C |
6: 132,957,477 (GRCm39) |
N151S |
probably benign |
Het |
Try5 |
T |
C |
6: 41,290,358 (GRCm39) |
N42S |
probably benign |
Het |
Ttn |
G |
T |
2: 76,732,338 (GRCm39) |
|
probably benign |
Het |
Utp14b |
A |
G |
1: 78,642,636 (GRCm39) |
E178G |
probably damaging |
Het |
|
Other mutations in Ankrd35 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00819:Ankrd35
|
APN |
3 |
96,590,350 (GRCm39) |
splice site |
probably null |
|
IGL00896:Ankrd35
|
APN |
3 |
96,591,592 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01565:Ankrd35
|
APN |
3 |
96,592,101 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02605:Ankrd35
|
APN |
3 |
96,588,388 (GRCm39) |
splice site |
probably null |
|
IGL02819:Ankrd35
|
APN |
3 |
96,597,524 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02994:Ankrd35
|
APN |
3 |
96,590,307 (GRCm39) |
splice site |
probably benign |
|
IGL03083:Ankrd35
|
APN |
3 |
96,592,117 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03105:Ankrd35
|
APN |
3 |
96,591,373 (GRCm39) |
missense |
probably benign |
|
FR4304:Ankrd35
|
UTSW |
3 |
96,591,163 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4342:Ankrd35
|
UTSW |
3 |
96,590,831 (GRCm39) |
frame shift |
probably null |
|
FR4737:Ankrd35
|
UTSW |
3 |
96,591,165 (GRCm39) |
utr 3 prime |
probably benign |
|
R0003:Ankrd35
|
UTSW |
3 |
96,591,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R0047:Ankrd35
|
UTSW |
3 |
96,591,379 (GRCm39) |
missense |
probably benign |
0.00 |
R0551:Ankrd35
|
UTSW |
3 |
96,591,276 (GRCm39) |
missense |
probably benign |
0.08 |
R1420:Ankrd35
|
UTSW |
3 |
96,592,054 (GRCm39) |
missense |
probably benign |
0.13 |
R1455:Ankrd35
|
UTSW |
3 |
96,585,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R2201:Ankrd35
|
UTSW |
3 |
96,586,564 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3522:Ankrd35
|
UTSW |
3 |
96,592,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R3605:Ankrd35
|
UTSW |
3 |
96,589,497 (GRCm39) |
nonsense |
probably null |
|
R4166:Ankrd35
|
UTSW |
3 |
96,586,471 (GRCm39) |
splice site |
probably null |
|
R4651:Ankrd35
|
UTSW |
3 |
96,591,343 (GRCm39) |
missense |
probably benign |
0.00 |
R4668:Ankrd35
|
UTSW |
3 |
96,586,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R4916:Ankrd35
|
UTSW |
3 |
96,591,438 (GRCm39) |
missense |
probably benign |
|
R4921:Ankrd35
|
UTSW |
3 |
96,592,140 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4953:Ankrd35
|
UTSW |
3 |
96,590,989 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5180:Ankrd35
|
UTSW |
3 |
96,587,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R5583:Ankrd35
|
UTSW |
3 |
96,592,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R5604:Ankrd35
|
UTSW |
3 |
96,592,215 (GRCm39) |
missense |
probably benign |
0.02 |
R5613:Ankrd35
|
UTSW |
3 |
96,590,334 (GRCm39) |
missense |
possibly damaging |
0.76 |
R6165:Ankrd35
|
UTSW |
3 |
96,590,623 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6413:Ankrd35
|
UTSW |
3 |
96,592,129 (GRCm39) |
missense |
probably damaging |
0.96 |
R6711:Ankrd35
|
UTSW |
3 |
96,590,784 (GRCm39) |
nonsense |
probably null |
|
R6834:Ankrd35
|
UTSW |
3 |
96,590,599 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6841:Ankrd35
|
UTSW |
3 |
96,577,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R7028:Ankrd35
|
UTSW |
3 |
96,590,650 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7396:Ankrd35
|
UTSW |
3 |
96,590,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R7425:Ankrd35
|
UTSW |
3 |
96,592,104 (GRCm39) |
missense |
not run |
|
R7815:Ankrd35
|
UTSW |
3 |
96,592,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R7887:Ankrd35
|
UTSW |
3 |
96,592,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R8103:Ankrd35
|
UTSW |
3 |
96,586,997 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8318:Ankrd35
|
UTSW |
3 |
96,592,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R8492:Ankrd35
|
UTSW |
3 |
96,589,529 (GRCm39) |
critical splice donor site |
probably null |
|
R8527:Ankrd35
|
UTSW |
3 |
96,589,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R8542:Ankrd35
|
UTSW |
3 |
96,589,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R8742:Ankrd35
|
UTSW |
3 |
96,586,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R8963:Ankrd35
|
UTSW |
3 |
96,587,003 (GRCm39) |
nonsense |
probably null |
|
R9029:Ankrd35
|
UTSW |
3 |
96,591,460 (GRCm39) |
missense |
probably benign |
0.43 |
R9229:Ankrd35
|
UTSW |
3 |
96,592,215 (GRCm39) |
missense |
probably benign |
0.02 |
R9488:Ankrd35
|
UTSW |
3 |
96,589,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R9669:Ankrd35
|
UTSW |
3 |
96,587,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R9761:Ankrd35
|
UTSW |
3 |
96,591,733 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1177:Ankrd35
|
UTSW |
3 |
96,591,086 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2014-02-04 |