Incidental Mutation 'IGL03221:Smpx'
ID 413648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smpx
Ensembl Gene ENSMUSG00000041476
Gene Name small muscle protein, X-linked
Synonyms Csl, 1010001C09Rik, chisel
Accession Numbers
Essential gene? Not available question?
Stock # IGL03221
Quality Score
Status
Chromosome X
Chromosomal Location 156481969-156535587 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156503994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 65 (V65A)
Ref Sequence ENSEMBL: ENSMUSP00000140268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038007] [ENSMUST00000112520] [ENSMUST00000112521] [ENSMUST00000147283] [ENSMUST00000190091]
AlphaFold Q9DC77
Predicted Effect probably damaging
Transcript: ENSMUST00000038007
AA Change: V65A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048522
Gene: ENSMUSG00000041476
AA Change: V65A

DomainStartEndE-ValueType
Pfam:Chisel 1 85 5.3e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112520
AA Change: V65A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108139
Gene: ENSMUSG00000041476
AA Change: V65A

DomainStartEndE-ValueType
Pfam:Chisel 1 85 5.3e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112521
AA Change: V65A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108140
Gene: ENSMUSG00000041476
AA Change: V65A

DomainStartEndE-ValueType
Pfam:Chisel 1 84 5.5e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132805
Predicted Effect probably benign
Transcript: ENSMUST00000147283
Predicted Effect probably damaging
Transcript: ENSMUST00000190091
AA Change: V65A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140268
Gene: ENSMUSG00000041476
AA Change: V65A

DomainStartEndE-ValueType
Pfam:Chisel 1 85 5.3e-49 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null mutation do not exhibit defects in heart or skeletal muscle morphology or development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 C T 6: 113,737,820 (GRCm39) probably benign Het
BC051665 T A 13: 60,932,242 (GRCm39) K116* probably null Het
Birc6 A T 17: 74,934,002 (GRCm39) T2538S probably benign Het
Btn2a2 A G 13: 23,662,619 (GRCm39) S435P probably damaging Het
Efhb A G 17: 53,706,014 (GRCm39) L841P probably damaging Het
Etv4 C T 11: 101,664,988 (GRCm39) R155K probably damaging Het
Fnbp4 T A 2: 90,608,062 (GRCm39) M928K possibly damaging Het
Grin2c A G 11: 115,144,870 (GRCm39) probably benign Het
Grip1 A T 10: 119,822,299 (GRCm39) M342L probably benign Het
H60c T A 10: 3,209,799 (GRCm39) K163* probably null Het
Hycc2 C A 1: 58,579,345 (GRCm39) V231L probably benign Het
Lilrb4b A G 10: 51,357,524 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mast4 A G 13: 102,890,764 (GRCm39) V838A possibly damaging Het
Mypn C A 10: 62,966,902 (GRCm39) D925Y probably damaging Het
Nol6 T C 4: 41,124,166 (GRCm39) D27G probably benign Het
Or4c105 T C 2: 88,647,781 (GRCm39) S89P possibly damaging Het
Or5b97 G T 19: 12,878,905 (GRCm39) P80T probably damaging Het
Or8b51 A T 9: 38,569,661 (GRCm39) V9E probably damaging Het
Pik3c2g A G 6: 139,718,133 (GRCm39) probably null Het
Pik3c3 G T 18: 30,435,984 (GRCm39) M394I probably benign Het
Rfx7 C T 9: 72,526,088 (GRCm39) R1093C probably damaging Het
Scin A G 12: 40,126,973 (GRCm39) V458A probably benign Het
Slc34a1 T C 13: 55,548,591 (GRCm39) V39A probably benign Het
Slc6a4 A G 11: 76,917,931 (GRCm39) M558V probably benign Het
Tmem200a A T 10: 25,869,922 (GRCm39) F116I possibly damaging Het
Tnfrsf19 A T 14: 61,262,227 (GRCm39) V12E probably benign Het
Trpc1 C T 9: 95,588,953 (GRCm39) R757H probably damaging Het
Ttc38 T A 15: 85,718,742 (GRCm39) S51T probably benign Het
Wee1 G A 7: 109,726,024 (GRCm39) C378Y probably damaging Het
Other mutations in Smpx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01657:Smpx APN X 156,497,676 (GRCm39) splice site probably benign
FR4976:Smpx UTSW X 156,503,920 (GRCm39) critical splice acceptor site probably benign
RF032:Smpx UTSW X 156,503,919 (GRCm39) critical splice acceptor site probably benign
X0062:Smpx UTSW X 156,503,991 (GRCm39) missense probably benign
Posted On 2016-08-02