Incidental Mutation 'IGL00562:Smim23'
ID277762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smim23
Ensembl Gene ENSMUSG00000020270
Gene Namesmall integral membrane protein 23
Synonyms1700008A04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.040) question?
Stock #IGL00562
Quality Score
Status
Chromosome11
Chromosomal Location32818529-32824605 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32821893 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 58 (T58A)
Ref Sequence ENSEMBL: ENSMUSP00000104989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020508] [ENSMUST00000109365]
Predicted Effect probably benign
Transcript: ENSMUST00000020508
AA Change: T58A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000020508
Gene: ENSMUSG00000020270
AA Change: T58A

DomainStartEndE-ValueType
Pfam:DUF4635 1 135 1.4e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109365
AA Change: T58A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104989
Gene: ENSMUSG00000020270
AA Change: T58A

DomainStartEndE-ValueType
Pfam:DUF4635 1 73 1e-35 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T C 5: 24,997,621 probably benign Het
AU016765 C A 17: 64,519,882 noncoding transcript Het
Chaf1b T C 16: 93,900,191 probably benign Het
Clstn2 A G 9: 97,582,452 probably benign Het
Crip1 T A 12: 113,153,612 probably null Het
Cubn A G 2: 13,294,230 S3211P probably benign Het
Dlx6 C T 6: 6,865,143 R172W probably damaging Het
Fktn A T 4: 53,747,007 probably null Het
Focad T A 4: 88,348,809 M1019K unknown Het
Fuca2 A T 10: 13,505,907 D188V probably damaging Het
Kcna3 A G 3: 107,036,730 D103G probably damaging Het
Mrpl19 A G 6: 81,965,872 V19A probably benign Het
Ndufb3 T A 1: 58,595,799 H103Q possibly damaging Het
Pkd1l3 T C 8: 109,656,147 V1675A possibly damaging Het
Ptger4 A T 15: 5,243,133 S2T probably benign Het
Saxo1 C T 4: 86,445,572 E225K probably damaging Het
Sftpb G T 6: 72,309,862 A228S probably benign Het
Slc22a29 T A 19: 8,161,629 T490S probably benign Het
Slc29a1 T C 17: 45,589,992 N50S probably damaging Het
Smc6 T A 12: 11,301,531 S854T probably benign Het
Tas2r134 T C 2: 51,628,088 I193T possibly damaging Het
Thsd7a G T 6: 12,379,659 probably null Het
Trav13n-4 T G 14: 53,363,966 V64G possibly damaging Het
Trmt10a G A 3: 138,147,416 E13K probably damaging Het
Txndc11 T C 16: 11,104,632 S239G probably damaging Het
Vmn2r96 T A 17: 18,583,815 N442K probably benign Het
Vps13a C T 19: 16,734,714 probably null Het
Other mutations in Smim23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00563:Smim23 APN 11 32821893 missense probably benign 0.11
IGL02800:Smim23 APN 11 32824424 critical splice donor site probably null
IGL02931:Smim23 APN 11 32820667 missense probably damaging 1.00
R1913:Smim23 UTSW 11 32824441 missense possibly damaging 0.83
R2228:Smim23 UTSW 11 32821870 missense probably damaging 0.98
R4698:Smim23 UTSW 11 32824510 missense possibly damaging 0.86
R5828:Smim23 UTSW 11 32820592 nonsense probably null
Posted On2015-04-16