Incidental Mutation 'IGL02076:Slc25a1'
ID185986
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 #IGL02076
Quality Score
Status
Chromosome16
Chromosomal Location17925223-17928219 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17927626 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 41 (C41R)
Ref Sequence ENSEMBL: ENSMUSP00000003622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003622]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003622
AA Change: C41R

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000003622
Gene: ENSMUSG00000003528
AA Change: C41R

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 probably benign
Transcript: ENSMUST00000131507
SMART Domains Protein: ENSMUSP00000123613
Gene: ENSMUSG00000003528

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,136,900 Y407C probably damaging Het
Capn5 T A 7: 98,131,743 K276* probably null Het
Cct4 T C 11: 23,002,394 V495A probably damaging Het
Dapk3 A G 10: 81,190,297 K141E probably damaging Het
Diexf T C 1: 193,130,059 H31R probably damaging Het
Dnah2 T C 11: 69,422,559 N4264S probably damaging Het
Dok1 A G 6: 83,032,831 L99P probably damaging Het
Ebf3 A G 7: 137,231,301 V215A possibly damaging Het
Efnb2 A G 8: 8,660,488 S43P probably benign Het
Jhy G A 9: 40,917,378 Q411* probably null Het
Krt73 G A 15: 101,799,935 T229I probably damaging Het
Mroh8 A G 2: 157,271,962 probably null Het
Olfm1 A G 2: 28,222,625 T223A probably damaging Het
Olfr32 T A 2: 90,138,815 E108V probably damaging Het
Olfr937 A G 9: 39,060,585 L27P probably damaging Het
Oprk1 T A 1: 5,602,289 D216E probably damaging Het
Pim1 T A 17: 29,493,803 I230N probably damaging Het
Ppm1f A C 16: 16,914,171 T162P possibly damaging Het
Rbbp8 T C 18: 11,705,819 Y186H probably damaging Het
Sema4a C T 3: 88,450,522 R225H probably damaging Het
Slc15a2 A C 16: 36,762,381 F215C probably damaging Het
Stil C A 4: 115,023,637 H459Q probably benign Het
Tbc1d32 A G 10: 56,088,403 I900T possibly damaging Het
Tmem33 T C 5: 67,286,103 F208L probably damaging Het
Vmn2r72 A G 7: 85,738,367 V663A probably damaging Het
Other mutations in Slc25a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Slc25a1 APN 16 17926066 missense probably damaging 1.00
IGL01940:Slc25a1 APN 16 17926440 missense probably benign 0.00
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 On2014-05-07