Incidental Mutation 'R6795:Slc25a42'
ID 532973
Institutional Source Beutler Lab
Gene Symbol Slc25a42
Ensembl Gene ENSMUSG00000002346
Gene Name solute carrier family 25, member 42
Synonyms 2900084M01Rik
MMRRC Submission 044908-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R6795 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 70636990-70664931 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70641040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 187 (Y187H)
Ref Sequence ENSEMBL: ENSMUSP00000105754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002413] [ENSMUST00000063788] [ENSMUST00000110127] [ENSMUST00000182715]
AlphaFold Q8R0Y8
Predicted Effect probably benign
Transcript: ENSMUST00000002413
SMART Domains Protein: ENSMUSP00000002413
Gene: ENSMUSG00000002342

DomainStartEndE-ValueType
Pfam:Tmemb_161AB 2 478 6.8e-182 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000063788
AA Change: Y187H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065903
Gene: ENSMUSG00000002346
AA Change: Y187H

DomainStartEndE-ValueType
Pfam:Mito_carr 29 122 3.4e-23 PFAM
Pfam:Mito_carr 127 219 1.4e-26 PFAM
Pfam:Mito_carr 222 316 3.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110127
AA Change: Y187H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105754
Gene: ENSMUSG00000002346
AA Change: Y187H

DomainStartEndE-ValueType
Pfam:Mito_carr 29 122 1.6e-23 PFAM
Pfam:Mito_carr 127 219 7.2e-27 PFAM
Pfam:Mito_carr 222 317 3.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182715
SMART Domains Protein: ENSMUSP00000138432
Gene: ENSMUSG00000002342

DomainStartEndE-ValueType
Pfam:Tmemb_161AB 2 45 3.3e-15 PFAM
low complexity region 152 165 N/A INTRINSIC
low complexity region 178 189 N/A INTRINSIC
Meta Mutation Damage Score 0.9719 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik C A 4: 73,869,065 (GRCm39) probably benign Het
A2m T A 6: 121,625,281 (GRCm39) probably null Het
Aadacl2fm3 A T 3: 59,776,357 (GRCm39) Y176F probably damaging Het
Agps A G 2: 75,724,402 (GRCm39) D472G probably damaging Het
Amfr A G 8: 94,726,961 (GRCm39) V158A probably benign Het
Birc2 A G 9: 7,833,873 (GRCm39) Y203H possibly damaging Het
Calr4 A G 4: 109,101,985 (GRCm39) N147D probably damaging Het
Cd8b1 T A 6: 71,303,324 (GRCm39) L133Q probably damaging Het
Cenpn T A 8: 117,652,887 (GRCm39) S19R probably benign Het
Ces2g A G 8: 105,694,449 (GRCm39) N494S probably damaging Het
Ces3a G A 8: 105,777,228 (GRCm39) G184R possibly damaging Het
Dlgap1 C A 17: 71,125,069 (GRCm39) A614E possibly damaging Het
Dpy19l1 C A 9: 24,414,158 (GRCm39) R90L possibly damaging Het
Ephb2 A C 4: 136,400,646 (GRCm39) L544R possibly damaging Het
Fanca T A 8: 124,045,232 (GRCm39) T21S probably benign Het
Fsip2 A T 2: 82,811,303 (GRCm39) M2541L probably benign Het
Galnt2 T C 8: 125,070,175 (GRCm39) F530S probably damaging Het
Gm19410 G A 8: 36,262,676 (GRCm39) C871Y probably damaging Het
Gmds C T 13: 32,418,335 (GRCm39) probably null Het
Hectd1 A G 12: 51,841,270 (GRCm39) V620A possibly damaging Het
Myo18b T C 5: 112,994,230 (GRCm39) T908A probably damaging Het
Or5d18 C T 2: 87,864,668 (GRCm39) V272I probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pcf11 A C 7: 92,306,786 (GRCm39) N1127K probably benign Het
Plec T C 15: 76,064,338 (GRCm39) K1979E probably damaging Het
Prpf38b T C 3: 108,811,980 (GRCm39) probably benign Het
Sema5b T A 16: 35,478,941 (GRCm39) C588* probably null Het
Skint5 C T 4: 113,524,420 (GRCm39) E854K unknown Het
Slc30a5 A T 13: 100,953,577 (GRCm39) D182E probably damaging Het
Synrg A G 11: 83,910,740 (GRCm39) I1047V probably damaging Het
Tbc1d31 A G 15: 57,815,102 (GRCm39) D593G probably damaging Het
Thnsl1 C T 2: 21,218,303 (GRCm39) Q165* probably null Het
Ttc6 T C 12: 57,751,199 (GRCm39) F1364L probably damaging Het
Ttf2 G A 3: 100,866,578 (GRCm39) A518V probably damaging Het
Vmn1r6 A G 6: 56,979,422 (GRCm39) Y28C possibly damaging Het
Zzef1 A G 11: 72,741,485 (GRCm39) E709G probably benign Het
Other mutations in Slc25a42
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Slc25a42 APN 8 70,642,092 (GRCm39) missense probably benign
IGL01651:Slc25a42 APN 8 70,639,250 (GRCm39) missense possibly damaging 0.92
R0892:Slc25a42 UTSW 8 70,644,597 (GRCm39) missense probably damaging 0.97
R1990:Slc25a42 UTSW 8 70,644,519 (GRCm39) missense probably benign 0.41
R4567:Slc25a42 UTSW 8 70,641,504 (GRCm39) missense probably damaging 0.99
R4717:Slc25a42 UTSW 8 70,642,107 (GRCm39) missense probably damaging 1.00
R6927:Slc25a42 UTSW 8 70,641,573 (GRCm39) missense probably damaging 0.96
R7011:Slc25a42 UTSW 8 70,639,352 (GRCm39) missense probably damaging 1.00
R7220:Slc25a42 UTSW 8 70,642,148 (GRCm39) missense probably damaging 1.00
R8901:Slc25a42 UTSW 8 70,646,799 (GRCm39) missense probably benign
R9234:Slc25a42 UTSW 8 70,642,736 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAAGGTTGCAGCCCAAG -3'
(R):5'- AGCCAAGTGACTGCAGTGTG -3'

Sequencing Primer
(F):5'- AATTGGGCTCTGGATCCCTGC -3'
(R):5'- ACTGCAGTGTGGGAGGC -3'
Posted On 2018-08-29