Incidental Mutation 'IGL01657:Smpx'
ID103075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smpx
Ensembl Gene ENSMUSG00000041476
Gene Namesmall muscle protein, X-linked
Synonymschisel, 1010001C09Rik, Csl
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01657
Quality Score
Status
ChromosomeX
Chromosomal Location157698910-157752591 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 157714680 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038007] [ENSMUST00000112520] [ENSMUST00000112521] [ENSMUST00000147283] [ENSMUST00000190091]
Predicted Effect probably benign
Transcript: ENSMUST00000038007
SMART Domains Protein: ENSMUSP00000048522
Gene: ENSMUSG00000041476

DomainStartEndE-ValueType
Pfam:Chisel 1 85 5.3e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112520
SMART Domains Protein: ENSMUSP00000108139
Gene: ENSMUSG00000041476

DomainStartEndE-ValueType
Pfam:Chisel 1 85 5.3e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112521
SMART Domains Protein: ENSMUSP00000108140
Gene: ENSMUSG00000041476

DomainStartEndE-ValueType
Pfam:Chisel 1 84 5.5e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132805
Predicted Effect probably benign
Transcript: ENSMUST00000147283
Predicted Effect probably benign
Transcript: ENSMUST00000190091
SMART Domains Protein: ENSMUSP00000140268
Gene: ENSMUSG00000041476

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,493 F90L probably benign Het
Anapc4 T A 5: 52,864,626 Y683* probably null Het
Astn2 T G 4: 65,651,949 D773A probably damaging Het
Atp2b3 T C X: 73,545,360 probably benign Het
Atp8b5 T C 4: 43,291,693 M22T probably benign Het
Birc6 T A 17: 74,660,611 L4169H probably damaging Het
Cdc42bpa T C 1: 180,111,866 V81A probably benign Het
Clcn2 A T 16: 20,713,619 C80S probably damaging Het
Clu C T 14: 65,979,672 A318V possibly damaging Het
Csnk1g2 A G 10: 80,639,629 H378R probably benign Het
Decr2 T A 17: 26,082,952 D268V probably damaging Het
Dpp3 T C 19: 4,918,304 T247A possibly damaging Het
Eif4g1 A G 16: 20,682,216 N774D possibly damaging Het
Epha4 A T 1: 77,426,838 V344E probably damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ggcx T A 6: 72,429,958 probably null Het
Gm1965 C T 6: 89,146,666 noncoding transcript Het
Gmnn T C 13: 24,753,704 E101G probably damaging Het
Grik2 C T 10: 49,527,986 probably null Het
H2-M11 T A 17: 36,547,573 D86E probably benign Het
Il6st T A 13: 112,481,543 W164R probably damaging Het
Ilvbl G T 10: 78,576,768 V108L possibly damaging Het
Klk10 A G 7: 43,781,589 K19E possibly damaging Het
Mbd4 G T 6: 115,849,637 T131N probably damaging Het
Ncapd3 T C 9: 27,071,824 V956A possibly damaging Het
Nif3l1 A C 1: 58,455,612 T247P probably damaging Het
Nrcam T C 12: 44,559,800 V443A probably damaging Het
Olfr1260 A G 2: 89,977,877 Y33C probably damaging Het
Pigk T A 3: 152,722,520 H61Q probably damaging Het
Pla2g4d C A 2: 120,275,287 V431F possibly damaging Het
Pxt1 A T 17: 28,934,804 H18Q possibly damaging Het
Rpusd4 T C 9: 35,273,461 probably benign Het
Slc22a18 T G 7: 143,499,100 L354R probably damaging Het
Slc26a10 A G 10: 127,175,034 V443A probably damaging Het
Sptan1 A G 2: 30,018,479 S1751G probably benign Het
Ush2a C T 1: 188,826,461 T3629I probably benign Het
Vcan C T 13: 89,690,586 V2280M probably damaging Het
Vmn1r30 T C 6: 58,435,634 E71G probably benign Het
Vmn2r100 A T 17: 19,525,916 I446F possibly damaging Het
Vmn2r75 A T 7: 86,164,247 V449D probably damaging Het
Other mutations in Smpx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03221:Smpx APN X 157720998 missense probably damaging 0.96
FR4976:Smpx UTSW X 157720924 critical splice acceptor site probably benign
RF032:Smpx UTSW X 157720923 critical splice acceptor site probably benign
X0062:Smpx UTSW X 157720995 missense probably benign
Posted On2014-01-21