Incidental Mutation 'R7884:Slc25a40'
ID 608933
Institutional Source Beutler Lab
Gene Symbol Slc25a40
Ensembl Gene ENSMUSG00000054099
Gene Name solute carrier family 25, member 40
Synonyms B230315F11Rik
MMRRC Submission 045936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7884 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 8472850-8504797 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8492509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 133 (L133Q)
Ref Sequence ENSEMBL: ENSMUSP00000067611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066921] [ENSMUST00000170496] [ENSMUST00000196727] [ENSMUST00000198792]
AlphaFold Q8BGP6
Predicted Effect probably damaging
Transcript: ENSMUST00000066921
AA Change: L133Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067611
Gene: ENSMUSG00000054099
AA Change: L133Q

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: L133Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130630
Gene: ENSMUSG00000054099
AA Change: L133Q

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 probably benign
Transcript: ENSMUST00000198792
SMART Domains Protein: ENSMUSP00000143045
Gene: ENSMUSG00000054099

DomainStartEndE-ValueType
Pfam:Mito_carr 13 129 2e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap31 T C 16: 38,422,593 (GRCm39) T1158A probably damaging Het
Arhgap32 A G 9: 32,171,810 (GRCm39) E1530G possibly damaging Het
C3 A G 17: 57,533,264 (GRCm39) F113S probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Csmd1 T C 8: 16,011,418 (GRCm39) N2545S probably damaging Het
Ctsh A G 9: 89,943,476 (GRCm39) D49G probably benign Het
Cyp7a1 T A 4: 6,272,697 (GRCm39) Y172F probably benign Het
Ddx52 A G 11: 83,842,911 (GRCm39) probably null Het
Dmxl1 A G 18: 50,026,474 (GRCm39) T1861A possibly damaging Het
Dnah7c C T 1: 46,830,929 (GRCm39) L3813F probably benign Het
Efl1 A G 7: 82,307,307 (GRCm39) I68V probably damaging Het
Etnk2 T C 1: 133,293,438 (GRCm39) V127A possibly damaging Het
Fank1 G C 7: 133,478,554 (GRCm39) R206P probably damaging Het
Fbxl9 A G 8: 106,042,165 (GRCm39) I221T probably benign Het
Fbxw27 G A 9: 109,618,468 (GRCm39) R73* probably null Het
Fndc1 A T 17: 7,992,029 (GRCm39) S556T unknown Het
Gnb3 T C 6: 124,814,055 (GRCm39) T178A probably benign Het
H2bc12 T C 13: 22,220,225 (GRCm39) S57P probably damaging Het
H2-M10.3 A T 17: 36,677,174 (GRCm39) L326Q probably benign Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Itfg2 T C 6: 128,393,344 (GRCm39) probably benign Het
Kcnma1 G A 14: 23,387,057 (GRCm39) P995L probably benign Het
Lama1 G A 17: 68,076,430 (GRCm39) G1068D Het
Lats1 A T 10: 7,573,290 (GRCm39) K125* probably null Het
Lipg C T 18: 75,081,078 (GRCm39) M334I probably damaging Het
Loxhd1 A T 18: 77,518,909 (GRCm39) E1905V probably damaging Het
Lpin1 C T 12: 16,612,370 (GRCm39) G544D Het
Lyst A T 13: 13,882,268 (GRCm39) N2853I probably benign Het
Mars1 A G 10: 127,136,114 (GRCm39) I525T probably damaging Het
Miga2 T A 2: 30,261,216 (GRCm39) D170E probably benign Het
Mrpl34 T C 8: 71,917,911 (GRCm39) V28A probably benign Het
Muc16 A T 9: 18,553,990 (GRCm39) V4101E unknown Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Myo1f A G 17: 33,817,270 (GRCm39) Y771C probably damaging Het
Nr2f1 G A 13: 78,337,988 (GRCm39) T376I probably benign Het
Nsd1 A G 13: 55,461,068 (GRCm39) T2535A probably damaging Het
Nup98 T A 7: 101,825,556 (GRCm39) T428S probably benign Het
Omd A G 13: 49,743,630 (GRCm39) M227V probably damaging Het
Osbpl7 A C 11: 96,951,283 (GRCm39) I657L possibly damaging Het
Pdgfrb T C 18: 61,205,730 (GRCm39) V572A probably damaging Het
Pik3c3 T C 18: 30,445,624 (GRCm39) V537A probably benign Het
Pou2f2 T C 7: 24,815,489 (GRCm39) M93V probably benign Het
Ppip5k2 T C 1: 97,668,207 (GRCm39) T640A probably benign Het
Ptar1 C T 19: 23,686,158 (GRCm39) P157S probably benign Het
Rapgef2 T A 3: 78,973,933 (GRCm39) D1471V possibly damaging Het
Rgs7 A T 1: 174,977,216 (GRCm39) probably null Het
Rhag A G 17: 41,142,536 (GRCm39) Y247C probably benign Het
Sardh A G 2: 27,129,383 (GRCm39) I305T probably damaging Het
Scn11a A G 9: 119,633,617 (GRCm39) I372T probably benign Het
Scn3a G T 2: 65,366,859 (GRCm39) D54E probably damaging Het
Senp2 A G 16: 21,832,981 (GRCm39) T90A probably benign Het
Serpinh1 C T 7: 98,998,495 (GRCm39) R45H probably benign Het
Siglecg T C 7: 43,058,703 (GRCm39) V152A probably benign Het
Sipa1l2 T A 8: 126,174,337 (GRCm39) M1314L probably benign Het
Slc23a1 A G 18: 35,759,002 (GRCm39) F63S possibly damaging Het
Slc6a16 A G 7: 44,908,771 (GRCm39) E117G probably damaging Het
Thoc2l T C 5: 104,669,212 (GRCm39) S1245P possibly damaging Het
Tmem235 G A 11: 117,755,033 (GRCm39) V162M probably benign Het
Trank1 A G 9: 111,221,584 (GRCm39) T2774A probably benign Het
Trav10n A T 14: 53,359,587 (GRCm39) H6L probably benign Het
Trav13d-3 G A 14: 53,270,704 (GRCm39) W55* probably null Het
Zfp654 G T 16: 64,672,011 (GRCm39) A2E probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging 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
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
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'- GATACACATGTCTCACACGCTTAC -3'
(R):5'- TGGCAGTCACATCAGAGCAG -3'

Sequencing Primer
(F):5'- GGCCCCTATGATACACATGTC -3'
(R):5'- GCAGTCACATCAGAGCAGTATTCTG -3'
Posted On 2019-12-20