Incidental Mutation 'IGL01631:Slc25a1'
ID93457
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a1
Ensembl Gene ENSMUSG00000003528
Gene Namesolute carrier family 25 (mitochondrial carrier, citrate transporter), member 1
SynonymsDgsj, 2610100G11Rik, 1300019P08Rik, Slc20a3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01631
Quality Score
Status
Chromosome16
Chromosomal Location17925223-17928219 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 17926066 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 262 (C262Y)
Ref Sequence ENSEMBL: ENSMUSP00000003622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003622]
Predicted Effect probably damaging
Transcript: ENSMUST00000003622
AA Change: C262Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003622
Gene: ENSMUSG00000003528
AA Change: C262Y

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: C147Y
SMART Domains Protein: ENSMUSP00000123613
Gene: ENSMUSG00000003528
AA Change: C147Y

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,685,414 I228M probably damaging Het
Apip C A 2: 103,073,849 probably benign Het
Arid4a C T 12: 71,022,262 probably benign Het
Brwd1 C A 16: 96,046,466 E98D probably damaging Het
Cactin A G 10: 81,323,224 E303G probably benign Het
Ccdc181 T A 1: 164,280,144 I132K possibly damaging Het
Celsr3 A G 9: 108,837,404 H1995R probably benign Het
Cog4 A G 8: 110,881,840 E756G probably damaging Het
Ctsf T C 19: 4,858,078 L217P probably damaging Het
Dmp1 G T 5: 104,212,868 R470L probably benign Het
Dnajc9 T C 14: 20,388,108 D142G probably benign Het
Ednrb T A 14: 103,843,225 R84S probably benign Het
Gm1110 A T 9: 26,897,916 probably null Het
Gm13119 A G 4: 144,362,445 H111R probably benign Het
Has2 A G 15: 56,681,676 S177P possibly damaging Het
Herc6 C T 6: 57,604,107 S264F probably benign Het
Il1rl2 T A 1: 40,356,814 probably null Het
Ltbp2 A G 12: 84,809,146 probably null Het
Map4 A G 9: 110,063,133 probably benign Het
March4 T A 1: 72,452,531 K194* probably null Het
Megf10 A G 18: 57,259,797 D422G possibly damaging Het
Mfsd2a C A 4: 122,949,307 A394S probably benign Het
Mmp27 T C 9: 7,573,288 probably benign Het
Mvd A G 8: 122,434,821 Y370H possibly damaging Het
Olfr1254 T C 2: 89,788,785 D189G probably damaging Het
Olfr922 T A 9: 38,816,039 C179S probably damaging Het
Ptk2 G A 15: 73,216,371 H859Y probably damaging Het
Ptprq T A 10: 107,643,538 E1209D probably benign Het
Rhot1 C T 11: 80,265,774 T636M probably damaging Het
Ripk2 C A 4: 16,163,342 A19S possibly damaging Het
Rsbn1l G A 5: 20,896,571 S657L probably damaging Het
Rsbn1l A T 5: 20,896,572 S657T probably damaging Het
Sema6c A G 3: 95,170,403 T450A probably benign Het
Slfn3 T C 11: 83,213,535 S288P probably damaging Het
Snrnp200 T A 2: 127,238,824 probably benign Het
Ssu2 T C 6: 112,374,882 Y294C probably damaging Het
Terb1 A G 8: 104,472,864 S483P probably damaging Het
Tsga13 T C 6: 30,913,566 K8E possibly damaging Het
Zbbx T G 3: 75,078,677 D351A probably damaging Het
Zfp454 G T 11: 50,883,735 A37D probably benign Het
Other mutations in Slc25a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Slc25a1 APN 16 17926440 missense probably benign 0.00
IGL02076:Slc25a1 APN 16 17927626 missense possibly damaging 0.94
IGL02137:Slc25a1 APN 16 17927370 missense probably benign 0.14
IGL03399:Slc25a1 APN 16 17925820 missense probably damaging 0.97
R0744:Slc25a1 UTSW 16 17927436 missense probably benign 0.04
R0747:Slc25a1 UTSW 16 17926220 missense probably damaging 0.99
R0836:Slc25a1 UTSW 16 17927436 missense probably benign 0.04
R0850:Slc25a1 UTSW 16 17927281 missense probably benign 0.01
R2290:Slc25a1 UTSW 16 17925848 missense possibly damaging 0.92
R2890:Slc25a1 UTSW 16 17926099 missense probably damaging 1.00
R6885:Slc25a1 UTSW 16 17927430 missense probably benign 0.00
R7503:Slc25a1 UTSW 16 17926439 nonsense probably null
R7840:Slc25a1 UTSW 16 17926274 missense probably benign 0.00
R7923:Slc25a1 UTSW 16 17926274 missense probably benign 0.00
Z1088:Slc25a1 UTSW 16 17927206 missense probably benign 0.21
Posted On2013-12-09