Incidental Mutation 'R5976:Slc25a38'
ID 471777
Institutional Source Beutler Lab
Gene Symbol Slc25a38
Ensembl Gene ENSMUSG00000032519
Gene Name solute carrier family 25, member 38
Synonyms appoptosin
MMRRC Submission 044158-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.505) question?
Stock # R5976 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 119939440-119953570 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119945613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 38 (T38A)
Ref Sequence ENSEMBL: ENSMUSP00000121747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035106] [ENSMUST00000135514] [ENSMUST00000144768] [ENSMUST00000150093]
AlphaFold Q91XD8
Predicted Effect possibly damaging
Transcript: ENSMUST00000035106
AA Change: T59A

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035106
Gene: ENSMUSG00000032519
AA Change: T59A

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 damaging
Transcript: ENSMUST00000135514
AA Change: T38A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121747
Gene: ENSMUSG00000032519
AA Change: T38A

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 noncoding transcript
Transcript: ENSMUST00000139079
Predicted Effect possibly damaging
Transcript: ENSMUST00000144768
AA Change: T59A

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121454
Gene: ENSMUSG00000032519
AA Change: T59A

DomainStartEndE-ValueType
Pfam:Mito_carr 44 114 1.2e-16 PFAM
low complexity region 163 182 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000150093
AA Change: T59A

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123357
Gene: ENSMUSG00000032519
AA Change: T59A

DomainStartEndE-ValueType
Pfam:Mito_carr 44 114 5.5e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154969
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar T C 1: 72,682,450 (GRCm39) T1154A probably benign Het
Ankrd26 A T 6: 118,494,855 (GRCm39) probably null Het
Arih2 A T 9: 108,485,172 (GRCm39) *54R probably null Het
AW146154 T G 7: 41,129,721 (GRCm39) K465T probably damaging Het
Bend3 A G 10: 43,386,540 (GRCm39) Y311C probably benign Het
Bltp2 G A 11: 78,174,955 (GRCm39) A1697T probably benign Het
Ccdc110 A T 8: 46,396,536 (GRCm39) Y809F possibly damaging Het
Ccnh C T 13: 85,338,982 (GRCm39) P76L probably damaging Het
Chaf1a T A 17: 56,371,115 (GRCm39) C667S probably damaging Het
Clca3a1 A T 3: 144,452,636 (GRCm39) Y616N probably damaging Het
Cldn4 A G 5: 134,975,410 (GRCm39) C64R probably damaging Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 133,801,837 (GRCm39) probably benign Het
Dclk2 C A 3: 86,694,532 (GRCm39) R752L possibly damaging Het
Dzank1 C A 2: 144,343,409 (GRCm39) G318W probably damaging Het
Edem1 T A 6: 108,819,923 (GRCm39) I236K probably damaging Het
Eif4e1b T C 13: 54,932,635 (GRCm39) F75L probably damaging Het
Elmo3 A G 8: 106,034,279 (GRCm39) Y266C probably damaging Het
Enpep A G 3: 129,092,773 (GRCm39) S509P probably damaging Het
Exoc8 A G 8: 125,623,392 (GRCm39) M325T probably benign Het
Fah A G 7: 84,243,949 (GRCm39) M270T probably benign Het
Gabbr1 T C 17: 37,378,754 (GRCm39) L532P probably damaging Het
Gm10770 T A 2: 150,021,320 (GRCm39) K66* probably null Het
Gprc5c A T 11: 114,755,313 (GRCm39) Q330L possibly damaging Het
Grin3a T A 4: 49,792,602 (GRCm39) H377L probably damaging Het
Hipk3 T C 2: 104,301,529 (GRCm39) E221G probably damaging Het
Hsd17b6 T A 10: 127,827,308 (GRCm39) M255L probably benign Het
Ighv1-7 T A 12: 114,502,379 (GRCm39) E29D probably benign Het
Ing3 T A 6: 21,971,173 (GRCm39) S326T probably benign Het
Ipo7 T C 7: 109,648,014 (GRCm39) L632P probably damaging Het
Kdm6b A G 11: 69,294,614 (GRCm39) probably null Het
Kif21a T G 15: 90,820,015 (GRCm39) D1583A probably damaging Het
Lama2 C T 10: 27,066,672 (GRCm39) V1070I probably benign Het
Lrp1 A T 10: 127,419,770 (GRCm39) S946R probably damaging Het
Lrrc37a A G 11: 103,389,897 (GRCm39) S1843P possibly damaging Het
Ltbp1 T C 17: 75,597,078 (GRCm39) Y517H probably damaging Het
Map2k4 T A 11: 65,600,778 (GRCm39) N51I probably benign Het
Mfsd2b G T 12: 4,916,522 (GRCm39) A216D probably damaging Het
Nbea T C 3: 55,761,268 (GRCm39) T2025A probably benign Het
Neb A G 2: 52,106,928 (GRCm39) V4162A possibly damaging Het
Nr3c1 A T 18: 39,554,602 (GRCm39) F599I probably damaging Het
Nsun2 T G 13: 69,771,271 (GRCm39) probably null Het
Or10ab4 T A 7: 107,655,005 (GRCm39) M272K possibly damaging Het
Or8b37 G T 9: 37,958,997 (GRCm39) V160F possibly damaging Het
Otoa T A 7: 120,726,936 (GRCm39) W524R probably benign Het
Paip1 T A 13: 119,593,533 (GRCm39) D182E probably damaging Het
Pde1a G A 2: 79,698,586 (GRCm39) Q415* probably null Het
Pfkfb2 T A 1: 130,635,816 (GRCm39) K72* probably null Het
Pigg A G 5: 108,480,057 (GRCm39) E444G probably null Het
Plec T C 15: 76,073,237 (GRCm39) Y669C probably damaging Het
Ptp4a3 T C 15: 73,627,885 (GRCm39) V94A possibly damaging Het
Ptprg A G 14: 12,211,625 (GRCm38) E969G probably damaging Het
R3hcc1l T A 19: 42,551,789 (GRCm39) V262E probably benign Het
Ranbp3l T G 15: 9,030,916 (GRCm39) F65C possibly damaging Het
Rbm19 T A 5: 120,278,372 (GRCm39) S718R probably benign Het
Recql4 C A 15: 76,593,624 (GRCm39) R162L probably benign Het
Rest T C 5: 77,416,119 (GRCm39) L111P probably benign Het
Rgma T C 7: 73,059,216 (GRCm39) S13P probably damaging Het
Rogdi T A 16: 4,831,175 (GRCm39) I31F probably benign Het
Serpinb9e T A 13: 33,439,112 (GRCm39) D179E probably benign Het
Slc1a5 T C 7: 16,529,807 (GRCm39) C409R probably damaging Het
Spag17 C T 3: 100,003,107 (GRCm39) Q1897* probably null Het
St7 C A 6: 17,694,221 (GRCm39) A4E possibly damaging Het
Tbcel T A 9: 42,350,499 (GRCm39) I263F possibly damaging Het
Tmtc3 A G 10: 100,312,534 (GRCm39) V103A probably benign Het
Tnc G A 4: 63,936,403 (GRCm39) P178S probably benign Het
Vwf A G 6: 125,580,426 (GRCm39) D558G Het
Zfp541 A G 7: 15,810,344 (GRCm39) K127R probably benign 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
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'- GCTGTGTACATTTCAGAGATGG -3'
(R):5'- AAGGAGCCCATGTAGTCAGC -3'

Sequencing Primer
(F):5'- TGTACATTTCAGAGATGGGGAGATAG -3'
(R):5'- GGAAGAAAACTCTTGTCTCAAGC -3'
Posted On 2017-03-31