Incidental Mutation 'R5140:Slc25a40'
ID 396388
Institutional Source Beutler Lab
Gene Symbol Slc25a40
Ensembl Gene ENSMUSG00000054099
Gene Name solute carrier family 25, member 40
Synonyms B230315F11Rik
MMRRC Submission 042726-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5140 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 8472850-8504797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8480486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 79 (Y79H)
Ref Sequence ENSEMBL: ENSMUSP00000130630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066921] [ENSMUST00000170496] [ENSMUST00000196727] [ENSMUST00000198792]
AlphaFold Q8BGP6
Predicted Effect probably damaging
Transcript: ENSMUST00000066921
AA Change: Y79H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067611
Gene: ENSMUSG00000054099
AA Change: Y79H

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 damaging
Transcript: ENSMUST00000170496
AA Change: Y79H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130630
Gene: ENSMUSG00000054099
AA Change: Y79H

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 silent
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 probably benign
Transcript: ENSMUST00000198792
AA Change: Y79H

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143045
Gene: ENSMUSG00000054099
AA Change: Y79H

DomainStartEndE-ValueType
Pfam:Mito_carr 13 129 2e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199817
Meta Mutation Damage Score 0.1367 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (59/60)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,752,154 (GRCm39) I405N probably damaging Het
Abhd17b T C 19: 21,661,545 (GRCm39) L244P probably damaging Het
Aebp2 T A 6: 140,579,532 (GRCm39) C34* probably null Het
Arhgap33 A G 7: 30,227,726 (GRCm39) V491A probably damaging Het
Cacul1 C T 19: 60,551,619 (GRCm39) R201Q probably benign Het
Cald1 T A 6: 34,730,515 (GRCm39) N77K probably damaging Het
Clcn6 A C 4: 148,122,774 (GRCm39) probably benign Het
Copb1 A T 7: 113,846,035 (GRCm39) H178Q probably benign Het
Dnah17 C T 11: 117,977,771 (GRCm39) V1854I probably damaging Het
Dnajc16 T G 4: 141,491,994 (GRCm39) T610P possibly damaging Het
Enpp1 T C 10: 24,528,750 (GRCm39) N624S possibly damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Foxn1 T C 11: 78,252,459 (GRCm39) T310A probably benign Het
Galnt16 T A 12: 80,628,073 (GRCm39) D256E possibly damaging Het
Gbp11 T C 5: 105,478,919 (GRCm39) D173G probably damaging Het
Glmn A G 5: 107,718,066 (GRCm39) S284P probably damaging Het
Gm3985 A G 8: 33,380,693 (GRCm39) noncoding transcript Het
Hs3st6 A T 17: 24,977,521 (GRCm39) M334L probably benign Het
Idua T A 5: 108,828,180 (GRCm39) D155E probably damaging Het
Kdm6b T C 11: 69,290,881 (GRCm39) probably benign Het
Kiss1r T C 10: 79,757,461 (GRCm39) F272L probably damaging Het
Krt35 T C 11: 99,985,343 (GRCm39) K233E probably damaging Het
Krt36 C T 11: 99,994,328 (GRCm39) V250M probably damaging Het
Lhpp T C 7: 132,307,361 (GRCm39) Y253H probably damaging Het
Npas3 T A 12: 53,547,897 (GRCm39) L51* probably null Het
Or10ac1 T C 6: 42,515,449 (GRCm39) H169R probably benign Het
Or1j18 T A 2: 36,624,510 (GRCm39) M59K possibly damaging Het
Or4a74 T C 2: 89,439,627 (GRCm39) Y273C probably damaging Het
Or4c119 T C 2: 88,987,451 (GRCm39) K23E probably benign Het
Or56b2 T C 7: 104,338,107 (GRCm39) M295T probably benign Het
Pcdhb9 T G 18: 37,534,186 (GRCm39) V60G probably benign Het
Prkce T C 17: 86,789,570 (GRCm39) V239A probably benign Het
Ralgapa1 C T 12: 55,822,937 (GRCm39) C293Y probably damaging Het
Ralgapa1 C T 12: 55,712,459 (GRCm39) R1804Q probably damaging Het
Rnf26 C A 9: 44,024,071 (GRCm39) probably null Het
Safb2 T C 17: 56,884,901 (GRCm39) D178G probably benign Het
Scn9a C T 2: 66,395,511 (GRCm39) V178M possibly damaging Het
Sergef A G 7: 46,285,026 (GRCm39) probably benign Het
Serpinb9 G A 13: 33,190,544 (GRCm39) G7R probably benign Het
Setd2 C A 9: 110,380,197 (GRCm39) D1337E probably benign Het
Shprh T A 10: 11,030,449 (GRCm39) M222K probably benign Het
Slc41a2 A G 10: 83,133,155 (GRCm39) M297T probably damaging Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Spcs1 A G 14: 30,722,570 (GRCm39) L83S probably benign Het
Sult1c2 T C 17: 54,276,743 (GRCm39) N106S probably benign Het
Szt2 C T 4: 118,244,178 (GRCm39) R1309Q possibly damaging Het
Ube3c T A 5: 29,840,709 (GRCm39) F695I probably damaging Het
Uimc1 A G 13: 55,223,330 (GRCm39) L314P probably damaging Het
Usp17le C T 7: 104,418,645 (GRCm39) E166K probably damaging Het
Vmn2r92 G A 17: 18,372,312 (GRCm39) D41N 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
IGL02604:Slc25a40 APN 5 8,503,219 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TTAAACAATGAAGGTTCCAGCC -3'
(R):5'- GGTCCTGTGAAGGCTTAATGC -3'

Sequencing Primer
(F):5'- TCCAGCCAGGAAGTTATCTTTC -3'
(R):5'- CCAGTGTAGGGGAATGCC -3'
Posted On 2016-06-21