Incidental Mutation 'IGL01418:Slc25a40'
ID278464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a40
Ensembl Gene ENSMUSG00000054099
Gene Namesolute carrier family 25, member 40
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01418
Quality Score
Status
Chromosome5
Chromosomal Location8422850-8454797 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to C at 8453298 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Tyrosine at position 338 (*338Y)
Ref Sequence ENSEMBL: ENSMUSP00000130630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066921] [ENSMUST00000170496] [ENSMUST00000196727]
Predicted Effect probably null
Transcript: ENSMUST00000066921
AA Change: *338Y
SMART Domains Protein: ENSMUSP00000067611
Gene: ENSMUSG00000054099
AA Change: *338Y

DomainStartEndE-ValueType
Pfam:Mito_carr 13 137 1.5e-24 PFAM
Pfam:Mito_carr 139 229 4.6e-20 PFAM
Pfam:Mito_carr 232 333 3.1e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170496
AA Change: *338Y
SMART Domains Protein: ENSMUSP00000130630
Gene: ENSMUSG00000054099
AA Change: *338Y

DomainStartEndE-ValueType
Pfam:Mito_carr 13 137 5.8e-24 PFAM
Pfam:Mito_carr 141 229 1.4e-17 PFAM
Pfam:Mito_carr 232 333 2.4e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196727
SMART Domains Protein: ENSMUSP00000142511
Gene: ENSMUSG00000054099

DomainStartEndE-ValueType
Pfam:Mito_carr 13 80 1.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198119
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele are viable and overtly normal in a battery of physiological, metabolic, and behavioral assays. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,525,206 H190L probably benign Het
Apoo-ps T A 13: 107,414,532 noncoding transcript Het
Asic1 T A 15: 99,672,117 N106K probably damaging Het
Ceacam5 G A 7: 17,745,599 A214T probably damaging Het
Cfap221 T A 1: 119,985,071 H91L possibly damaging Het
Cnga4 A T 7: 105,404,962 M46L probably benign Het
Ctcfl T C 2: 173,118,331 E153G probably benign Het
Cubn C T 2: 13,284,041 V3374I probably benign Het
Cyb561a3 T A 19: 10,585,246 H83Q probably damaging Het
Dnah11 C T 12: 117,987,482 W1126* probably null Het
E130311K13Rik A C 3: 63,920,262 L141R possibly damaging Het
Ercc5 A G 1: 44,167,280 K451R probably benign Het
Fbxo34 T A 14: 47,530,784 C585S possibly damaging Het
Gm13088 A T 4: 143,655,317 F270I probably benign Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Ifi214 T A 1: 173,529,429 N36I probably damaging Het
Il17ra A G 6: 120,475,581 N242D probably benign Het
Itpr1 T A 6: 108,339,624 probably null Het
Lactb T C 9: 66,967,763 D349G possibly damaging Het
Lrp2 C T 2: 69,525,286 V405I probably benign Het
Map1b A T 13: 99,431,830 I1461K unknown Het
Mdh2 T A 5: 135,786,025 I116N probably damaging Het
Nek5 A C 8: 22,095,269 I364S probably damaging Het
Nr2c1 A T 10: 94,190,690 M476L probably damaging Het
Olfr1152 T C 2: 87,868,465 V158A probably benign Het
Olfr1290 T C 2: 111,489,639 E173G probably benign Het
Olfr412 T C 11: 74,364,984 V105A possibly damaging Het
Olfr418 T A 1: 173,270,708 C178S probably damaging Het
Pcdhb8 A G 18: 37,355,976 N236D probably damaging Het
Phf10 C A 17: 14,945,134 V487L probably benign Het
Ptpn3 G A 4: 57,270,156 T2I probably damaging Het
Rbl1 T C 2: 157,152,892 probably null Het
Slc24a3 A G 2: 145,640,249 D609G probably damaging Het
Slc5a8 G T 10: 88,905,033 C270F probably damaging Het
Slfn8 T C 11: 83,004,636 D448G probably damaging Het
Tmem87a T C 2: 120,385,870 T180A probably benign Het
Trim30c A G 7: 104,382,334 S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 R414S probably benign Het
Vipas39 G A 12: 87,249,397 T274I probably benign Het
Zfp507 T A 7: 35,793,812 probably null Het
Other mutations in Slc25a40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Slc25a40 APN 5 8453298 makesense probably null
IGL02604:Slc25a40 APN 5 8453219 missense probably benign
IGL03371:Slc25a40 APN 5 8427442 missense probably benign 0.01
PIT4494001:Slc25a40 UTSW 5 8440737 missense probably damaging 1.00
R0443:Slc25a40 UTSW 5 8447348 missense probably benign 0.05
R1051:Slc25a40 UTSW 5 8430450 missense probably benign
R1707:Slc25a40 UTSW 5 8440793 splice site probably null
R1861:Slc25a40 UTSW 5 8442431 intron probably null
R2117:Slc25a40 UTSW 5 8430417 missense probably damaging 1.00
R2135:Slc25a40 UTSW 5 8427489 missense possibly damaging 0.78
R2567:Slc25a40 UTSW 5 8430459 missense probably damaging 1.00
R2908:Slc25a40 UTSW 5 8427505 missense probably damaging 1.00
R5140:Slc25a40 UTSW 5 8430486 missense probably damaging 0.96
R5269:Slc25a40 UTSW 5 8447409 critical splice donor site probably null
R6665:Slc25a40 UTSW 5 8452788 missense probably benign 0.01
R7884:Slc25a40 UTSW 5 8442509 missense probably damaging 1.00
R7967:Slc25a40 UTSW 5 8442509 missense probably damaging 1.00
R7996:Slc25a40 UTSW 5 8443653 missense probably damaging 1.00
Posted On2015-04-16