Incidental Mutation 'R5171:Slc25a38'
ID 398726
Institutional Source Beutler Lab
Gene Symbol Slc25a38
Ensembl Gene ENSMUSG00000032519
Gene Name solute carrier family 25, member 38
Synonyms appoptosin
MMRRC Submission 042751-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.462) question?
Stock # R5171 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 119939440-119953570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119951181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 217 (I217K)
Ref Sequence ENSEMBL: ENSMUSP00000121747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035106] [ENSMUST00000135514] [ENSMUST00000144768] [ENSMUST00000150093]
AlphaFold Q91XD8
Predicted Effect probably benign
Transcript: ENSMUST00000035106
AA Change: I238K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035106
Gene: ENSMUSG00000032519
AA Change: I238K

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: I217K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000121747
Gene: ENSMUSG00000032519
AA Change: I217K

DomainStartEndE-ValueType
Pfam:Mito_carr 22 118 2.8e-23 PFAM
Pfam:Mito_carr 118 208 1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137522
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154969
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (52/52)
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
AA986860 C A 1: 130,670,584 (GRCm39) Q269K probably benign Het
Acad9 T A 3: 36,128,547 (GRCm39) I136N possibly damaging Het
Adtrp A G 13: 41,931,039 (GRCm39) S183P probably damaging Het
Atp11b C T 3: 35,887,086 (GRCm39) T690I probably damaging Het
Bcl2l12 G A 7: 44,640,818 (GRCm39) probably benign Het
Btnl7-ps T A 17: 34,752,503 (GRCm39) noncoding transcript Het
Ccl12 T C 11: 81,993,460 (GRCm39) C33R probably damaging Het
Cdc25a T A 9: 109,706,229 (GRCm39) S57R probably benign Het
Coro2a T A 4: 46,542,372 (GRCm39) probably benign Het
Cpne6 T C 14: 55,749,605 (GRCm39) V55A possibly damaging Het
Ddn A G 15: 98,704,207 (GRCm39) S362P possibly damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Donson A G 16: 91,478,181 (GRCm39) V258A possibly damaging Het
Gm3336 G A 8: 71,174,524 (GRCm39) V163I probably benign Het
Gper1 C T 5: 139,412,413 (GRCm39) R253C probably damaging Het
Gpsm1 T A 2: 26,217,476 (GRCm39) probably benign Het
Hip1 A G 5: 135,469,156 (GRCm39) S251P probably damaging Het
Ifi214 A G 1: 173,354,200 (GRCm39) S157P possibly damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kntc1 T C 5: 123,937,907 (GRCm39) V1535A probably benign Het
Mbd3l1 A G 9: 18,396,430 (GRCm39) N185S probably benign Het
Mnx1 T C 5: 29,679,851 (GRCm39) Q252R unknown Het
Mroh3 A T 1: 136,119,394 (GRCm39) L463Q possibly damaging Het
Myom1 T C 17: 71,406,967 (GRCm39) V1030A possibly damaging Het
Or3a1d T C 11: 74,237,640 (GRCm39) T257A probably benign Het
Or5ak20 T C 2: 85,184,114 (GRCm39) D52G probably benign Het
Or5w1 T G 2: 87,486,888 (GRCm39) I126L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Ranbp17 A G 11: 33,167,419 (GRCm39) Y1015H probably benign Het
Rasal1 C T 5: 120,801,829 (GRCm39) T256I probably benign Het
Rexo5 T A 7: 119,423,002 (GRCm39) I278N probably damaging Het
Rims2 T A 15: 39,300,499 (GRCm39) S77T probably damaging Het
Sdk2 C T 11: 113,741,808 (GRCm39) A804T probably benign Het
Slc24a2 T A 4: 86,914,871 (GRCm39) I589F probably benign Het
Slc5a7 T C 17: 54,583,704 (GRCm39) T529A probably benign Het
Spata22 T A 11: 73,227,034 (GRCm39) S83T probably damaging Het
Spata31e4 A T 13: 50,854,414 (GRCm39) T91S possibly damaging Het
Stac2 A T 11: 97,934,324 (GRCm39) C127S possibly damaging Het
Tep1 T C 14: 51,062,259 (GRCm39) H2531R probably benign Het
Tmem151a G T 19: 5,132,061 (GRCm39) R382S probably damaging Het
Trim60 T C 8: 65,453,176 (GRCm39) T358A probably benign Het
Unc13c T A 9: 73,665,236 (GRCm39) M1048L probably benign Het
Usp29 T C 7: 6,965,074 (GRCm39) S306P probably damaging Het
Zfp26 T C 9: 20,356,203 (GRCm39) K35R probably benign Het
Zfp462 T A 4: 55,016,986 (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
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
R7379:Slc25a38 UTSW 9 119,949,902 (GRCm39) missense probably benign 0.01
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'- ACACCTGCATTGTTCCAGTC -3'
(R):5'- AGTTCTACCGTTCCCCAGTG -3'

Sequencing Primer
(F):5'- CATTGTTCCAGTCGGGTGC -3'
(R):5'- TACCGTTCCCCAGTGTGCAG -3'
Posted On 2016-07-06