Incidental Mutation 'R7379:Slc25a38'
ID 572583
Institutional Source Beutler Lab
Gene Symbol Slc25a38
Ensembl Gene ENSMUSG00000032519
Gene Name solute carrier family 25, member 38
Synonyms appoptosin
MMRRC Submission 045461-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.505) question?
Stock # R7379 (G1)
Quality Score 171.009
Status Validated
Chromosome 9
Chromosomal Location 119939440-119953570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119949902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 227 (L227Q)
Ref Sequence ENSEMBL: ENSMUSP00000035106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035106] [ENSMUST00000135514] [ENSMUST00000144768] [ENSMUST00000150093]
AlphaFold Q91XD8
Predicted Effect probably benign
Transcript: ENSMUST00000035106
AA Change: L227Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000035106
Gene: ENSMUSG00000032519
AA Change: L227Q

DomainStartEndE-ValueType
Pfam:Mito_carr 44 139 4.1e-23 PFAM
Pfam:Mito_carr 139 229 2.5e-19 PFAM
Pfam:Mito_carr 237 326 4.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135514
AA Change: L206Q

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121747
Gene: ENSMUSG00000032519
AA Change: L206Q

DomainStartEndE-ValueType
Pfam:Mito_carr 22 118 2.8e-23 PFAM
Pfam:Mito_carr 118 208 1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144768
SMART Domains Protein: ENSMUSP00000121454
Gene: ENSMUSG00000032519

DomainStartEndE-ValueType
Pfam:Mito_carr 44 114 1.2e-16 PFAM
low complexity region 163 182 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150093
SMART Domains Protein: ENSMUSP00000123357
Gene: ENSMUSG00000032519

DomainStartEndE-ValueType
Pfam:Mito_carr 44 114 5.5e-17 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia.[provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 G A 17: 66,292,242 (GRCm39) R1064* probably null Het
Ccdc149 A G 5: 52,562,408 (GRCm39) I206T probably damaging Het
Ctu1 AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG AGGACCGGGCAGGAGCCACCTGTGTATCGCAG 7: 43,326,490 (GRCm39) probably benign Het
Cyp2j6 T C 4: 96,414,183 (GRCm39) T361A probably damaging Het
Cyp4a14 A T 4: 115,350,907 (GRCm39) probably null Het
Cyp7b1 A G 3: 18,151,538 (GRCm39) V225A probably benign Het
Esf1 A G 2: 139,996,854 (GRCm39) I503T probably benign Het
Flrt2 G A 12: 95,747,329 (GRCm39) V556I possibly damaging Het
Gaa T C 11: 119,174,525 (GRCm39) S791P probably benign Het
H2-T22 A G 17: 36,353,232 (GRCm39) probably null Het
Hexb A G 13: 97,317,672 (GRCm39) S342P probably damaging Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ift57 A G 16: 49,581,357 (GRCm39) E341G probably damaging Het
Itpkc A T 7: 26,927,194 (GRCm39) I240K probably benign Het
Kit A T 5: 75,808,412 (GRCm39) S719C probably damaging Het
Klf1 T A 8: 85,629,846 (GRCm39) Y224N possibly damaging Het
Krt77 T C 15: 101,769,709 (GRCm39) E387G probably damaging Het
L3mbtl1 T A 2: 162,802,899 (GRCm39) D347E probably damaging Het
Map1s A G 8: 71,366,219 (GRCm39) T375A possibly damaging Het
Mturn A G 6: 54,666,069 (GRCm39) T81A possibly damaging Het
Mug2 A G 6: 122,024,446 (GRCm39) E506G possibly damaging Het
Notch1 A G 2: 26,369,479 (GRCm39) F512S probably damaging Het
Or10g1 T C 14: 52,647,718 (GRCm39) T204A probably benign Het
Or12e13 T A 2: 87,664,123 (GRCm39) C247S probably damaging Het
Or4c12b T A 2: 89,647,033 (GRCm39) V115E probably benign Het
Or9s14 G T 1: 92,536,189 (GRCm39) C210F possibly damaging Het
Pcdhga10 A G 18: 37,880,619 (GRCm39) N127D probably damaging Het
Plb1 A G 5: 32,502,983 (GRCm39) I1148V probably damaging Het
Plcb1 A G 2: 135,212,430 (GRCm39) D1007G probably benign Het
Prdm16 T A 4: 154,613,316 (GRCm39) E37V probably damaging Het
Prss45 C A 9: 110,668,261 (GRCm39) N151K possibly damaging Het
Rngtt A T 4: 33,498,981 (GRCm39) K513* probably null Het
Serpinb10 T C 1: 107,460,117 (GRCm39) probably benign Het
Shc1 T C 3: 89,334,129 (GRCm39) V402A probably benign Het
Slc6a13 A T 6: 121,313,798 (GRCm39) K514* probably null Het
Sorcs3 T C 19: 48,760,705 (GRCm39) V911A possibly damaging Het
Sptb A T 12: 76,657,651 (GRCm39) I1290N probably damaging Het
Sptbn1 T C 11: 30,089,292 (GRCm39) K657E possibly damaging Het
Stpg4 T A 17: 87,735,068 (GRCm39) probably null Het
Stx2 A G 5: 129,064,863 (GRCm39) V278A possibly damaging Het
Thoc1 A T 18: 9,992,902 (GRCm39) N558I probably benign Het
Trpm2 T C 10: 77,750,568 (GRCm39) T1343A probably benign Het
Usf3 T A 16: 44,040,939 (GRCm39) D1806E probably benign Het
Vmn2r106 C T 17: 20,488,037 (GRCm39) M787I possibly damaging Het
Wdfy4 A G 14: 32,873,566 (GRCm39) S248P Het
Zeb2 G T 2: 44,891,829 (GRCm39) probably null Het
Other mutations in Slc25a38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00913:Slc25a38 APN 9 119,949,373 (GRCm39) nonsense probably null
IGL01012:Slc25a38 APN 9 119,945,560 (GRCm39) splice site probably benign
IGL02084:Slc25a38 APN 9 119,949,512 (GRCm39) splice site probably benign
IGL02203:Slc25a38 APN 9 119,949,878 (GRCm39) missense probably damaging 1.00
IGL02281:Slc25a38 APN 9 119,946,598 (GRCm39) missense probably damaging 1.00
R0482:Slc25a38 UTSW 9 119,949,899 (GRCm39) missense probably benign 0.01
R0532:Slc25a38 UTSW 9 119,949,772 (GRCm39) missense probably damaging 1.00
R0550:Slc25a38 UTSW 9 119,952,709 (GRCm39) missense probably benign 0.00
R1523:Slc25a38 UTSW 9 119,952,769 (GRCm39) missense possibly damaging 0.94
R4908:Slc25a38 UTSW 9 119,949,354 (GRCm39) missense probably damaging 1.00
R5171:Slc25a38 UTSW 9 119,951,181 (GRCm39) missense probably benign 0.01
R5976:Slc25a38 UTSW 9 119,945,613 (GRCm39) missense probably damaging 0.98
R6092:Slc25a38 UTSW 9 119,945,658 (GRCm39) missense probably damaging 1.00
R8007:Slc25a38 UTSW 9 119,951,208 (GRCm39) missense possibly damaging 0.88
R8841:Slc25a38 UTSW 9 119,949,845 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAAGTCTGCTTAGGCCACTG -3'
(R):5'- TAGAAGACACAAGGCTCCTGTC -3'

Sequencing Primer
(F):5'- TTAGGCCACTGCTCAGATGCTG -3'
(R):5'- TGTCGGGGCAGAGTCTGAC -3'
Posted On 2019-09-13