Incidental Mutation 'IGL02604:Slc25a40'
ID 300162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a40
Ensembl Gene ENSMUSG00000054099
Gene Name solute carrier family 25, member 40
Synonyms B230315F11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02604
Quality Score
Status
Chromosome 5
Chromosomal Location 8472850-8504797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8503219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 312 (V312A)
Ref Sequence ENSEMBL: ENSMUSP00000130630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066921] [ENSMUST00000170496] [ENSMUST00000196727]
AlphaFold Q8BGP6
Predicted Effect probably benign
Transcript: ENSMUST00000066921
AA Change: V312A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067611
Gene: ENSMUSG00000054099
AA Change: V312A

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 benign
Transcript: ENSMUST00000170496
AA Change: V312A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130630
Gene: ENSMUSG00000054099
AA Change: V312A

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,878,845 (GRCm39) V61A probably benign Het
Arfgef1 G A 1: 10,251,275 (GRCm39) probably benign Het
Arhgef4 T A 1: 34,850,804 (GRCm39) L594* probably null Het
Cacna2d3 T C 14: 29,015,066 (GRCm39) T375A possibly damaging Het
Calb2 A C 8: 110,875,160 (GRCm39) Y155D probably damaging Het
Camkmt A G 17: 85,404,053 (GRCm39) T92A possibly damaging Het
Cfap91 A G 16: 38,141,921 (GRCm39) probably benign Het
Chsy3 A G 18: 59,542,187 (GRCm39) S442G probably benign Het
Cyp4f13 T C 17: 33,151,395 (GRCm39) I173V probably benign Het
Dapk1 A G 13: 60,896,134 (GRCm39) T741A probably benign Het
Dennd3 T C 15: 73,428,252 (GRCm39) I866T probably damaging Het
Dhrs2 A T 14: 55,474,778 (GRCm39) I138F possibly damaging Het
Dscaml1 C T 9: 45,655,626 (GRCm39) probably benign Het
Fsbp A G 4: 11,584,147 (GRCm39) E282G probably damaging Het
Hpgds A T 6: 65,100,594 (GRCm39) L128Q probably damaging Het
Hspa9 A G 18: 35,087,266 (GRCm39) V13A unknown Het
Itgb3 A G 11: 104,553,269 (GRCm39) E709G probably damaging Het
Jarid2 T C 13: 45,027,877 (GRCm39) S148P probably damaging Het
Kcna6 C T 6: 126,716,167 (GRCm39) G241R probably benign Het
Kdm5a T A 6: 120,408,941 (GRCm39) N1541K probably benign Het
Kel C A 6: 41,664,516 (GRCm39) E640D probably damaging Het
Lcp1 A T 14: 75,461,566 (GRCm39) I520F probably benign Het
Lgr4 A G 2: 109,841,658 (GRCm39) I524V probably damaging Het
Mup20 A C 4: 61,970,141 (GRCm39) Y139D probably damaging Het
Notch4 T C 17: 34,784,362 (GRCm39) probably null Het
Obox7 A G 7: 14,399,293 (GRCm39) E173G probably benign Het
Or10a49 T A 7: 108,467,857 (GRCm39) Y168F probably benign Het
Or2a25 T A 6: 42,888,992 (GRCm39) C178* probably null Het
Or5w22 A T 2: 87,362,949 (GRCm39) T191S probably damaging Het
Or8b40 C T 9: 38,027,148 (GRCm39) Q19* probably null Het
Or9i1 T A 19: 13,839,170 (GRCm39) N4K probably benign Het
Patl2 T G 2: 121,955,814 (GRCm39) T241P possibly damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plekhg6 T C 6: 125,354,342 (GRCm39) probably benign Het
Pon1 C A 6: 5,168,375 (GRCm39) G344V probably damaging Het
Ppp1r21 G T 17: 88,880,171 (GRCm39) K529N probably benign Het
Prdm15 A G 16: 97,623,142 (GRCm39) S203P probably benign Het
Psmc2 T A 5: 22,000,098 (GRCm39) probably null Het
Ptn T C 6: 36,692,653 (GRCm39) M166V unknown Het
Ptpn13 A G 5: 103,649,769 (GRCm39) N391D probably benign Het
Rnf214 A G 9: 45,780,841 (GRCm39) S383P probably damaging Het
Rufy4 T A 1: 74,173,348 (GRCm39) L438H probably damaging Het
Scarf2 A G 16: 17,621,608 (GRCm39) T353A probably damaging Het
Serpinb9e A C 13: 33,441,742 (GRCm39) I225L probably benign Het
Tmc3 A G 7: 83,271,827 (GRCm39) Y993C possibly damaging Het
Trim56 A C 5: 137,141,930 (GRCm39) C529G probably damaging Het
Trim8 T C 19: 46,503,917 (GRCm39) S490P probably damaging Het
Trmt6 A T 2: 132,652,357 (GRCm39) Y147* probably null Het
Vmn2r109 T A 17: 20,760,963 (GRCm39) H798L probably damaging Het
Vps35 A G 8: 86,013,018 (GRCm39) L153P probably damaging Het
Wdr82 T C 9: 106,060,880 (GRCm39) I131T probably damaging Het
Zfp69 A T 4: 120,788,660 (GRCm39) D218E probably benign Het
Other mutations in Slc25a40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Slc25a40 APN 5 8,503,298 (GRCm39) makesense probably null
IGL01418:Slc25a40 APN 5 8,503,298 (GRCm39) makesense probably null
IGL03371:Slc25a40 APN 5 8,477,442 (GRCm39) missense probably benign 0.01
PIT4494001:Slc25a40 UTSW 5 8,490,737 (GRCm39) missense probably damaging 1.00
R0443:Slc25a40 UTSW 5 8,497,348 (GRCm39) missense probably benign 0.05
R1051:Slc25a40 UTSW 5 8,480,450 (GRCm39) missense probably benign
R1707:Slc25a40 UTSW 5 8,490,793 (GRCm39) splice site probably null
R1861:Slc25a40 UTSW 5 8,492,431 (GRCm39) splice site probably null
R2117:Slc25a40 UTSW 5 8,480,417 (GRCm39) missense probably damaging 1.00
R2135:Slc25a40 UTSW 5 8,477,489 (GRCm39) missense possibly damaging 0.78
R2567:Slc25a40 UTSW 5 8,480,459 (GRCm39) missense probably damaging 1.00
R2908:Slc25a40 UTSW 5 8,477,505 (GRCm39) missense probably damaging 1.00
R5140:Slc25a40 UTSW 5 8,480,486 (GRCm39) missense probably damaging 0.96
R5269:Slc25a40 UTSW 5 8,497,409 (GRCm39) critical splice donor site probably null
R6665:Slc25a40 UTSW 5 8,502,788 (GRCm39) missense probably benign 0.01
R7884:Slc25a40 UTSW 5 8,492,509 (GRCm39) missense probably damaging 1.00
R7996:Slc25a40 UTSW 5 8,493,653 (GRCm39) missense probably damaging 1.00
R9100:Slc25a40 UTSW 5 8,499,613 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16