Incidental Mutation 'R0012:Chrna10'
ID |
8098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chrna10
|
Ensembl Gene |
ENSMUSG00000066279 |
Gene Name |
cholinergic receptor, nicotinic, alpha polypeptide 10 |
Synonyms |
|
MMRRC Submission |
038307-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.170)
|
Stock # |
R0012 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
101760473-101766035 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101764264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 40
(N40S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033300]
[ENSMUST00000084830]
[ENSMUST00000209809]
[ENSMUST00000210211]
[ENSMUST00000210682]
[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 |
possibly damaging
Transcript: ENSMUST00000084830
AA Change: N40S
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000081891 Gene: ENSMUSG00000066279 AA Change: N40S
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: ENSMUST00000210682
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211408
AA Change: N40S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.0857 |
Coding Region Coverage |
- 1x: 78.7%
- 3x: 69.0%
- 10x: 44.7%
- 20x: 26.0%
|
Validation Efficiency |
91% (95/104) |
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 |
Adap1 |
A |
G |
5: 139,293,489 (GRCm39) |
|
probably benign |
Het |
Bnip3 |
A |
G |
7: 138,500,401 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
A |
C |
16: 95,860,852 (GRCm39) |
S311R |
probably damaging |
Het |
C2cd3 |
G |
A |
7: 100,067,729 (GRCm39) |
V871M |
possibly damaging |
Het |
Chd2 |
G |
T |
7: 73,105,267 (GRCm39) |
T192K |
probably damaging |
Het |
Copb1 |
T |
A |
7: 113,836,643 (GRCm39) |
K366N |
probably damaging |
Het |
Dpysl4 |
T |
G |
7: 138,677,799 (GRCm39) |
I412S |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,153,697 (GRCm39) |
V3505A |
probably benign |
Het |
Fbxo24 |
A |
G |
5: 137,620,256 (GRCm39) |
F101S |
probably damaging |
Het |
Gcnt3 |
T |
C |
9: 69,941,367 (GRCm39) |
I400M |
probably benign |
Het |
Gm2962 |
T |
A |
1: 170,752,908 (GRCm39) |
|
probably benign |
Het |
Gsap |
T |
A |
5: 21,431,227 (GRCm39) |
|
probably benign |
Het |
Hipk1 |
A |
G |
3: 103,670,996 (GRCm39) |
M467T |
probably damaging |
Het |
Hmgb4 |
T |
A |
4: 128,154,518 (GRCm39) |
I17F |
probably damaging |
Het |
Ints15 |
A |
G |
5: 143,299,937 (GRCm39) |
L137P |
probably damaging |
Het |
Kif17 |
T |
G |
4: 138,021,059 (GRCm39) |
S606A |
probably damaging |
Het |
Lypd4 |
A |
G |
7: 24,564,757 (GRCm39) |
L127P |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,862,279 (GRCm39) |
H2605R |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,457,076 (GRCm39) |
S1289P |
probably damaging |
Het |
Mob1b |
G |
A |
5: 88,903,943 (GRCm39) |
|
probably benign |
Het |
Mthfd2l |
A |
T |
5: 91,109,242 (GRCm39) |
H224L |
probably damaging |
Het |
Nectin2 |
T |
C |
7: 19,464,669 (GRCm39) |
|
probably benign |
Het |
Rae1 |
T |
A |
2: 172,844,466 (GRCm39) |
F4I |
unknown |
Het |
Ralgapa2 |
A |
G |
2: 146,254,672 (GRCm39) |
Y821H |
probably benign |
Het |
Sharpin |
G |
T |
15: 76,232,543 (GRCm39) |
P156T |
possibly damaging |
Het |
Slc38a4 |
C |
T |
15: 96,897,510 (GRCm39) |
R435H |
probably damaging |
Het |
Snrnp200 |
T |
C |
2: 127,070,469 (GRCm39) |
V1061A |
probably benign |
Het |
Suclg1 |
A |
G |
6: 73,247,980 (GRCm39) |
T234A |
possibly damaging |
Het |
Tet2 |
T |
C |
3: 133,182,319 (GRCm39) |
Y1215C |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,979,523 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
T |
C |
6: 29,589,176 (GRCm39) |
E58G |
probably damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,272,283 (GRCm39) |
M464K |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,918,339 (GRCm39) |
S560G |
possibly damaging |
Het |
Unc80 |
T |
C |
1: 66,546,550 (GRCm39) |
S541P |
probably damaging |
Het |
Ushbp1 |
T |
C |
8: 71,847,684 (GRCm39) |
|
probably benign |
Het |
Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
probably benign |
Het |
|
Other mutations in Chrna10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00500:Chrna10
|
APN |
7 |
101,761,615 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
2012-11-20 |