Incidental Mutation 'RF032:Smpx'
ID 604428
Institutional Source Beutler Lab
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 # RF032 (G1)
Quality Score 209.458
Status Not validated
Chromosome X
Chromosomal Location 156481969-156535587 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) CCCCCCA to C at 156503919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140268 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038007] [ENSMUST00000112520] [ENSMUST00000112521] [ENSMUST00000147283] [ENSMUST00000190091]
AlphaFold Q9DC77
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 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
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 TACCT TACCTGACCT 17: 24,506,701 (GRCm39) probably null Het
Acap3 CTGCTG CTGCTGCATCCTGGGATGCTG 4: 155,989,559 (GRCm39) probably benign Het
Arid1b GCG GCGTCG 17: 5,045,863 (GRCm39) probably benign Het
Blm CTCC CTCCTCCTCCTCGTCC 7: 80,162,678 (GRCm39) probably benign Het
Cacna1f GAG GAGTAG X: 7,486,302 (GRCm39) probably null Het
Calhm1 C CTGTGGCCGTGG 19: 47,129,722 (GRCm39) probably null Het
Cluh CCCGAGCC CCCGAGCCCGAGCC 11: 74,560,341 (GRCm39) probably benign Het
Cyb5r4 ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA 9: 86,922,466 (GRCm39) probably benign Het
Dmkn GT GTTGTGAAAGTGGTGGAAGTGGTGGAATT 7: 30,466,607 (GRCm39) probably benign Het
Efhd2 CGCC CGCCGCAGCC 4: 141,602,083 (GRCm39) probably benign Het
Enah TGGCGGTGG TG 1: 181,749,494 (GRCm39) probably null Het
Gm8369 GTGTGT GTGTGTATGTGT 19: 11,489,142 (GRCm39) probably benign Het
H2-T10 TTTCCCACTGTA T 17: 36,431,186 (GRCm39) probably null Het
Ifi207 GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC GCCTGAGCTGTGGAAGTCTC 1: 173,562,723 (GRCm39) probably benign Het
Igf1r GATGGAGC GATGGAGCTGGATATGGAGC 7: 67,875,927 (GRCm39) probably benign Het
Krtap28-10 AGCCACAGCCACCACAGCCACAGCCACCAC AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC 1: 83,019,979 (GRCm39) probably benign Het
Lmx1b TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA TACATCTTGATGCCGTCCA 2: 33,530,501 (GRCm39) probably null Het
Med12l CAG CAGAAG 3: 59,183,402 (GRCm39) probably benign Het
Med12l GCA GCACCA 3: 59,183,410 (GRCm39) probably benign Het
Med12l AGC AGCGGC 3: 59,183,406 (GRCm39) probably benign Het
Mn1 CAG CAGAAG 5: 111,567,577 (GRCm39) probably benign Het
Nf2 AAAAG A 11: 4,779,936 (GRCm39) probably null Het
Nusap1 TTAGCAGTGAGGAGCAAGCTGAGA TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA 2: 119,458,068 (GRCm39) probably benign Het
Or10j2 GTGACATC G 1: 173,098,276 (GRCm39) probably null Het
Padi3 TCTCAC TC 4: 140,520,283 (GRCm39) probably benign Het
Pik3c2g G GGAGA 6: 139,612,656 (GRCm39) probably null Het
Pou3f1 GGCGGCCG GGCGGCCGCGGCCG 4: 124,551,598 (GRCm39) probably benign Het
Rassf6 ATTC ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC 5: 90,756,798 (GRCm39) probably benign Het
Reep1 CC CCCGAC 6: 71,684,952 (GRCm39) probably null Het
Slc12a1 ACAAACC ACAAACCTTTGGCCACCAAACC 2: 124,996,130 (GRCm39) probably benign Het
Spaca1 TCGC TCGCTCACGC 4: 34,049,854 (GRCm39) probably benign Het
Supt20 GCAGCA GCAGCACCAGCA 3: 54,635,087 (GRCm39) probably benign Het
Tgoln1 GCTTGCCAGAAT GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT 6: 72,593,046 (GRCm39) probably benign Het
Tgoln1 T TCACCTCCCGTGGGCTTGCCAGAAG 6: 72,593,057 (GRCm39) probably benign Het
Triobp CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG 15: 78,851,236 (GRCm39) probably benign Het
Vat1l C T 8: 115,016,069 (GRCm39) L320F probably damaging Het
Zfhx3 CAGCAACAG CAGCAACAGAAGCAACAG 8: 109,682,724 (GRCm39) probably benign Het
Other mutations in Smpx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01657:Smpx APN X 156,497,676 (GRCm39) splice site probably benign
IGL03221:Smpx APN X 156,503,994 (GRCm39) missense probably damaging 0.96
FR4976:Smpx UTSW X 156,503,920 (GRCm39) critical splice acceptor site probably benign
X0062:Smpx UTSW X 156,503,991 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGAAACTCTAAGGCTGTCTGAAC -3'
(R):5'- GCAGGCTAAATTGAACATCTCTG -3'

Sequencing Primer
(F):5'- TCTAAGGCTGTCTGAACACTAAC -3'
(R):5'- GGCTAAATTGAACATCTCTGGTAGAG -3'
Posted On 2019-12-04