Incidental Mutation 'R6927:Slc25a42'
ID 541158
Institutional Source Beutler Lab
Gene Symbol Slc25a42
Ensembl Gene ENSMUSG00000002346
Gene Name solute carrier family 25, member 42
Synonyms 2900084M01Rik
MMRRC Submission 045044-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R6927 (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 70641573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 136 (L136P)
Ref Sequence ENSEMBL: ENSMUSP00000105754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063788] [ENSMUST00000110127]
AlphaFold Q8R0Y8
Predicted Effect probably damaging
Transcript: ENSMUST00000063788
AA Change: L136P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065903
Gene: ENSMUSG00000002346
AA Change: L136P

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: L136P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105754
Gene: ENSMUSG00000002346
AA Change: L136P

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
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 96.1%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,635,317 (GRCm39) W229R probably damaging Het
Adck2 T C 6: 39,560,998 (GRCm39) probably null Het
Ahi1 A T 10: 20,930,968 (GRCm39) N936I probably damaging Het
Ass1 T C 2: 31,404,813 (GRCm39) S365P probably damaging Het
Atp9b T C 18: 80,935,072 (GRCm39) K208E possibly damaging Het
Bag6 G A 17: 35,364,898 (GRCm39) probably null Het
Bptf A T 11: 106,945,421 (GRCm39) V2491E probably damaging Het
Cd300ld2 T A 11: 114,904,619 (GRCm39) R83W probably damaging Het
Chrnd T C 1: 87,126,434 (GRCm39) F396L probably damaging Het
Cyp3a13 G A 5: 137,893,546 (GRCm39) P439S probably damaging Het
Dnhd1 C A 7: 105,364,770 (GRCm39) H4279N probably damaging Het
Fam118a T C 15: 84,929,038 (GRCm39) probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fasn T A 11: 120,699,115 (GRCm39) D2386V probably benign Het
Fat1 G A 8: 45,477,532 (GRCm39) V2170I probably benign Het
Fdps T C 3: 89,000,958 (GRCm39) R374G probably benign Het
Fhl5 T C 4: 25,213,681 (GRCm39) D85G probably benign Het
Flvcr1 T C 1: 190,757,861 (GRCm39) M144V possibly damaging Het
Gask1b T C 3: 79,848,769 (GRCm39) I505T probably damaging Het
Gpr31b A G 17: 13,270,765 (GRCm39) S135P probably damaging Het
Hey2 A T 10: 30,710,413 (GRCm39) D113E probably benign Het
Hoxc5 T A 15: 102,923,807 (GRCm39) I201N probably damaging Het
Ighv1-50 A T 12: 115,083,794 (GRCm39) W3R probably damaging Het
Impa1 A G 3: 10,380,348 (GRCm39) I208T probably benign Het
Iqcj T C 3: 67,954,624 (GRCm39) L43P possibly damaging Het
Itga10 T C 3: 96,564,030 (GRCm39) F895L probably damaging Het
Kdm4b T C 17: 56,706,435 (GRCm39) C850R probably damaging Het
Krt25 A T 11: 99,208,205 (GRCm39) I341N probably damaging Het
L3mbtl3 T A 10: 26,168,567 (GRCm39) R621* probably null Het
Lipm T C 19: 34,078,563 (GRCm39) probably benign Het
Macrod2 A T 2: 142,098,441 (GRCm39) D286V probably damaging Het
Mad2l2 T A 4: 148,225,411 (GRCm39) V27E possibly damaging Het
Map4k4 T A 1: 40,050,842 (GRCm39) H768Q probably benign Het
Mgat4d A G 8: 84,081,496 (GRCm39) N83S probably benign Het
Nucb1 C T 7: 45,148,282 (GRCm39) R141H possibly damaging Het
Or2t46 A G 11: 58,472,491 (GRCm39) K274E possibly damaging Het
Pcdhga2 A C 18: 37,803,719 (GRCm39) D521A probably damaging Het
Pcnx1 T C 12: 81,964,586 (GRCm39) V251A probably benign Het
Pdf A T 8: 107,774,833 (GRCm39) M133K probably damaging Het
Piezo2 A G 18: 63,166,057 (GRCm39) F2058S probably damaging Het
Plekhb2 T A 1: 34,915,982 (GRCm39) probably null Het
Ppp2r3d G C 9: 101,052,547 (GRCm39) H221D probably damaging Het
Prl2c5 A T 13: 13,357,503 (GRCm39) probably null Het
Puf60 T A 15: 75,947,663 (GRCm39) M49L probably benign Het
Rdh16f1 T C 10: 127,624,561 (GRCm39) V133A probably benign Het
Robo2 T A 16: 73,778,946 (GRCm39) D389V probably damaging Het
Slc22a23 G T 13: 34,528,362 (GRCm39) A140D probably benign Het
Slc36a3 T A 11: 55,020,519 (GRCm39) M284L probably damaging Het
Tas2r115 T A 6: 132,714,895 (GRCm39) I19F probably damaging Het
Tmc2 A G 2: 130,103,300 (GRCm39) H812R probably benign Het
Vmn2r26 A G 6: 124,016,057 (GRCm39) S174G possibly damaging Het
Vstm4 T A 14: 32,585,959 (GRCm39) probably null Het
Vwc2 C A 11: 11,104,250 (GRCm39) P261T probably damaging Het
Zfhx3 C G 8: 109,683,453 (GRCm39) H3631D unknown Het
Zfp335 A G 2: 164,735,640 (GRCm39) C1105R probably damaging Het
Zfp488 A G 14: 33,692,755 (GRCm39) L136P probably benign Het
Zzef1 G A 11: 72,803,983 (GRCm39) R2575H probably damaging 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
R6795:Slc25a42 UTSW 8 70,641,040 (GRCm39) missense probably damaging 1.00
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'- GTCTTTCTGGAACCCTGCAG -3'
(R):5'- AGCCTCAAGGAAGATATCTCAC -3'

Sequencing Primer
(F):5'- TCTGGAACCCTGCAGAATCTC -3'
(R):5'- ATCTCACTATTGCAGACGGG -3'
Posted On 2018-11-28