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) question?
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

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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