Incidental Mutation 'R0850:Slc25a1'
ID 82531
Institutional Source Beutler Lab
Gene Symbol Slc25a1
Ensembl Gene ENSMUSG00000003528
Gene Name solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1
Synonyms Slc20a3, Dgsj, 1300019P08Rik, 2610100G11Rik
MMRRC Submission 039029-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0850 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 17743087-17746083 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17745145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 105 (F105Y)
Ref Sequence ENSEMBL: ENSMUSP00000003622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003622]
AlphaFold Q8JZU2
Predicted Effect probably benign
Transcript: ENSMUST00000003622
AA Change: F105Y

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000003622
Gene: ENSMUSG00000003528
AA Change: F105Y

DomainStartEndE-ValueType
Pfam:Mito_carr 21 116 2.1e-22 PFAM
Pfam:Mito_carr 118 213 9.7e-19 PFAM
Pfam:Mito_carr 216 308 5.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129270
Predicted Effect unknown
Transcript: ENSMUST00000131507
AA Change: S21T
SMART Domains Protein: ENSMUSP00000123613
Gene: ENSMUSG00000003528
AA Change: S21T

DomainStartEndE-ValueType
Pfam:Mito_carr 14 99 1.2e-12 PFAM
Pfam:Mito_carr 102 194 5.7e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193194
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Aadacl2fm2 T G 3: 59,659,669 (GRCm39) I374R possibly damaging Het
Agbl3 T A 6: 34,776,139 (GRCm39) F210Y probably damaging Het
Dgkq A G 5: 108,802,444 (GRCm39) V418A possibly damaging Het
Dmp1 A T 5: 104,360,653 (GRCm39) D443V possibly damaging Het
Elapor2 T A 5: 9,467,993 (GRCm39) N220K probably damaging Het
Elavl3 T G 9: 21,948,059 (GRCm39) D35A probably damaging Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Fbxw25 T C 9: 109,478,685 (GRCm39) K425R probably benign Het
Gypa A G 8: 81,222,974 (GRCm39) H26R unknown Het
H2-DMb1 T C 17: 34,374,536 (GRCm39) V62A probably benign Het
Helb T C 10: 119,941,272 (GRCm39) H472R probably damaging Het
Herc1 T G 9: 66,373,952 (GRCm39) V3197G probably damaging Het
Herc2 C A 7: 55,854,231 (GRCm39) N3712K probably benign Het
Herc6 T C 6: 57,560,227 (GRCm39) V89A possibly damaging Het
Hspa1l A G 17: 35,196,599 (GRCm39) T213A probably benign Het
Kcna7 T C 7: 45,058,855 (GRCm39) S381P probably damaging Het
Kif19a C A 11: 114,671,613 (GRCm39) P164Q probably damaging Het
Macf1 A G 4: 123,368,195 (GRCm39) S2189P probably benign Het
Mpo A G 11: 87,688,328 (GRCm39) N329S probably damaging Het
Mrps15 A G 4: 125,942,479 (GRCm39) Y76C probably damaging Het
Or51a42 T A 7: 103,708,252 (GRCm39) M186L probably benign Het
Or6c75 T C 10: 129,337,593 (GRCm39) V280A probably damaging Het
Prdm2 T C 4: 142,858,773 (GRCm39) R1506G possibly damaging Het
Ptprb A T 10: 116,138,030 (GRCm39) Q311H possibly damaging Het
Ptprb T C 10: 116,175,415 (GRCm39) Y1137H probably damaging Het
Scaf8 A G 17: 3,246,049 (GRCm39) probably null Het
Slc29a4 T C 5: 142,704,327 (GRCm39) V327A probably benign Het
Spmip3 A G 1: 177,568,571 (GRCm39) T23A probably benign Het
Tmed10 A G 12: 85,390,279 (GRCm39) F195L probably benign Het
Tmem45a2 T A 16: 56,865,732 (GRCm39) I151F probably benign Het
Vmn2r93 C A 17: 18,525,279 (GRCm39) F312L possibly damaging Het
Zfp326 A G 5: 106,026,663 (GRCm39) probably null Het
Other mutations in Slc25a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Slc25a1 APN 16 17,743,930 (GRCm39) missense probably damaging 1.00
IGL01940:Slc25a1 APN 16 17,744,304 (GRCm39) missense probably benign 0.00
IGL02076:Slc25a1 APN 16 17,745,490 (GRCm39) missense possibly damaging 0.94
IGL02137:Slc25a1 APN 16 17,745,234 (GRCm39) missense probably benign 0.14
IGL03399:Slc25a1 APN 16 17,743,684 (GRCm39) missense probably damaging 0.97
powerpack UTSW 16 17,744,138 (GRCm39) missense probably benign 0.00
R0744:Slc25a1 UTSW 16 17,745,300 (GRCm39) missense probably benign 0.04
R0747:Slc25a1 UTSW 16 17,744,084 (GRCm39) missense probably damaging 0.99
R0836:Slc25a1 UTSW 16 17,745,300 (GRCm39) missense probably benign 0.04
R2290:Slc25a1 UTSW 16 17,743,712 (GRCm39) missense possibly damaging 0.92
R2890:Slc25a1 UTSW 16 17,743,963 (GRCm39) missense probably damaging 1.00
R6885:Slc25a1 UTSW 16 17,745,294 (GRCm39) missense probably benign 0.00
R7503:Slc25a1 UTSW 16 17,744,303 (GRCm39) nonsense probably null
R7840:Slc25a1 UTSW 16 17,744,138 (GRCm39) missense probably benign 0.00
R8104:Slc25a1 UTSW 16 17,744,297 (GRCm39) critical splice donor site probably null
R8408:Slc25a1 UTSW 16 17,743,720 (GRCm39) missense probably benign 0.01
R8987:Slc25a1 UTSW 16 17,743,744 (GRCm39) missense probably damaging 1.00
R9022:Slc25a1 UTSW 16 17,745,294 (GRCm39) missense probably benign 0.00
R9145:Slc25a1 UTSW 16 17,745,108 (GRCm39) critical splice donor site probably null
Z1088:Slc25a1 UTSW 16 17,745,070 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- TGGCTACCCCTGAAAGGCTCAATC -3'
(R):5'- CTTCCCGACCGAATACGTGAAGAC -3'

Sequencing Primer
(F):5'- AAGGCTCAATCCCTCACCTTG -3'
(R):5'- TACCGGGGCATCGGTAAG -3'
Posted On 2013-11-08