Incidental Mutation 'IGL00500:Chrna10'
ID |
5192 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Chrna10
|
Ensembl Gene |
ENSMUSG00000066279 |
Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 10 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.170)
|
Stock # |
IGL00500
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
101760473-101766035 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 101761615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 325
(C325*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033300]
[ENSMUST00000084830]
[ENSMUST00000209809]
[ENSMUST00000210211]
[ENSMUST00000211408]
|
AlphaFold |
B2RX82 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033300
|
SMART Domains |
Protein: ENSMUSP00000033300 Gene: ENSMUSG00000030996
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:ART
|
39 |
269 |
2e-99 |
PFAM |
low complexity region
|
288 |
313 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000084830
AA Change: C325*
|
SMART Domains |
Protein: ENSMUSP00000081891 Gene: ENSMUSG00000066279 AA Change: C325*
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
30 |
236 |
1.5e-67 |
PFAM |
Pfam:Neur_chan_memb
|
243 |
384 |
9.3e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209809
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210211
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211408
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211553
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in impaired synaptic function and integrity of the olivocochlear system. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
A |
G |
7: 119,383,567 (GRCm39) |
E576G |
probably damaging |
Het |
Adnp |
A |
G |
2: 168,025,243 (GRCm39) |
V684A |
possibly damaging |
Het |
Agl |
A |
G |
3: 116,566,469 (GRCm39) |
W965R |
probably damaging |
Het |
AI467606 |
G |
A |
7: 126,691,505 (GRCm39) |
V27I |
probably benign |
Het |
Ankrd34b |
G |
A |
13: 92,575,295 (GRCm39) |
G176R |
probably benign |
Het |
Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
Atp6v1a |
T |
C |
16: 43,931,946 (GRCm39) |
Q114R |
probably benign |
Het |
B4galt2 |
A |
T |
4: 117,734,378 (GRCm39) |
L257Q |
probably damaging |
Het |
Clip2 |
A |
G |
5: 134,529,011 (GRCm39) |
|
probably benign |
Het |
Crocc2 |
C |
T |
1: 93,144,766 (GRCm39) |
Q1437* |
probably null |
Het |
Csmd1 |
C |
T |
8: 15,971,139 (GRCm39) |
V3059M |
probably damaging |
Het |
Cst5 |
C |
A |
2: 149,247,501 (GRCm39) |
S72R |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,908,618 (GRCm39) |
D1077G |
probably damaging |
Het |
Dhx9 |
T |
C |
1: 153,341,494 (GRCm39) |
T585A |
probably damaging |
Het |
Fam210a |
G |
A |
18: 68,408,854 (GRCm39) |
T152I |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,159,436 (GRCm39) |
Q2214L |
probably damaging |
Het |
Fpr1 |
T |
A |
17: 18,097,263 (GRCm39) |
Q242L |
probably benign |
Het |
G2e3 |
A |
G |
12: 51,400,581 (GRCm39) |
|
probably null |
Het |
Gcdh |
C |
T |
8: 85,615,146 (GRCm39) |
|
probably benign |
Het |
Gm18856 |
T |
C |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
Itgb2 |
T |
A |
10: 77,400,558 (GRCm39) |
W724R |
probably damaging |
Het |
Klhl2 |
T |
C |
8: 65,202,120 (GRCm39) |
T519A |
probably benign |
Het |
Krtap12-1 |
G |
T |
10: 77,556,814 (GRCm39) |
C119F |
possibly damaging |
Het |
Nrap |
T |
A |
19: 56,361,341 (GRCm39) |
K369N |
probably damaging |
Het |
Nrg1 |
T |
A |
8: 32,312,342 (GRCm39) |
|
probably null |
Het |
Plekhh3 |
T |
A |
11: 101,056,519 (GRCm39) |
|
probably null |
Het |
Ppm1b |
A |
G |
17: 85,310,712 (GRCm39) |
S289G |
probably damaging |
Het |
Prol1 |
A |
T |
5: 88,476,550 (GRCm39) |
*313C |
probably null |
Het |
Rab40c |
T |
C |
17: 26,104,059 (GRCm39) |
E111G |
probably damaging |
Het |
Skint11 |
T |
A |
4: 114,051,906 (GRCm39) |
C85S |
probably benign |
Het |
Slc9a2 |
G |
A |
1: 40,802,743 (GRCm39) |
E598K |
possibly damaging |
Het |
Slfn8 |
T |
A |
11: 82,904,310 (GRCm39) |
D360V |
possibly damaging |
Het |
Sspo |
C |
A |
6: 48,474,355 (GRCm39) |
C4925* |
probably null |
Het |
Vps8 |
A |
G |
16: 21,261,084 (GRCm39) |
T75A |
possibly damaging |
Het |
Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
Zfp608 |
T |
A |
18: 55,121,405 (GRCm39) |
T61S |
probably benign |
Het |
|
Other mutations in Chrna10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02313:Chrna10
|
APN |
7 |
101,761,236 (GRCm39) |
unclassified |
probably benign |
|
IGL02814:Chrna10
|
APN |
7 |
101,761,469 (GRCm39) |
missense |
probably benign |
0.00 |
R0012:Chrna10
|
UTSW |
7 |
101,764,264 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0012:Chrna10
|
UTSW |
7 |
101,764,264 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1464:Chrna10
|
UTSW |
7 |
101,763,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Chrna10
|
UTSW |
7 |
101,763,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R2567:Chrna10
|
UTSW |
7 |
101,761,276 (GRCm39) |
missense |
probably benign |
0.16 |
R3774:Chrna10
|
UTSW |
7 |
101,763,535 (GRCm39) |
missense |
probably benign |
0.00 |
R4707:Chrna10
|
UTSW |
7 |
101,762,426 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4742:Chrna10
|
UTSW |
7 |
101,762,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R4784:Chrna10
|
UTSW |
7 |
101,762,426 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4785:Chrna10
|
UTSW |
7 |
101,762,426 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5384:Chrna10
|
UTSW |
7 |
101,763,560 (GRCm39) |
missense |
probably damaging |
0.97 |
R6355:Chrna10
|
UTSW |
7 |
101,762,292 (GRCm39) |
critical splice donor site |
probably null |
|
R7215:Chrna10
|
UTSW |
7 |
101,761,415 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7253:Chrna10
|
UTSW |
7 |
101,761,293 (GRCm39) |
missense |
probably benign |
0.00 |
R8368:Chrna10
|
UTSW |
7 |
101,764,223 (GRCm39) |
missense |
probably benign |
|
R9489:Chrna10
|
UTSW |
7 |
101,762,801 (GRCm39) |
missense |
probably benign |
0.00 |
R9660:Chrna10
|
UTSW |
7 |
101,761,416 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Chrna10
|
UTSW |
7 |
101,764,194 (GRCm39) |
missense |
possibly damaging |
0.96 |
Z1177:Chrna10
|
UTSW |
7 |
101,762,471 (GRCm39) |
missense |
probably benign |
0.13 |
|
Posted On |
2012-04-20 |