Incidental Mutation 'IGL03399:Slc25a1'
ID421355
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 #IGL03399
Quality Score
Status
Chromosome16
Chromosomal Location17925223-17928219 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 17925820 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 195 (T195K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003622]
Predicted Effect possibly damaging
Transcript: ENSMUST00000003622
AA Change: T310K

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000003622
Gene: ENSMUSG00000003528
AA Change: T310K

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 damaging
Transcript: ENSMUST00000131507
AA Change: T195K

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123613
Gene: ENSMUSG00000003528
AA Change: T195K

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik G A 7: 140,247,956 E26K probably benign Het
Acss1 C T 2: 150,637,878 G303D probably damaging Het
Adam6b A T 12: 113,491,108 Y515F probably damaging Het
Birc2 A T 9: 7,821,087 L412Q probably damaging Het
Birc6 T C 17: 74,594,373 I1144T probably benign Het
Dip2b A T 15: 100,175,327 N770I possibly damaging Het
Dmxl2 T C 9: 54,446,672 N671D probably damaging Het
Dpyd A G 3: 119,314,777 D823G probably damaging Het
Eif5 A G 12: 111,544,590 D367G probably damaging Het
Exog T G 9: 119,446,951 S56A possibly damaging Het
Hap1 C A 11: 100,354,267 M39I possibly damaging Het
Hsd17b6 A T 10: 127,993,756 H192Q probably benign Het
Insrr T A 3: 87,809,331 L622Q probably null Het
Kars G T 8: 112,008,294 A20E probably benign Het
Kyat3 A G 3: 142,726,010 D197G probably damaging Het
Mapk9 T A 11: 49,883,299 probably benign Het
Naip1 A T 13: 100,408,918 D1367E probably damaging Het
Oaz1 G A 10: 80,828,342 S84N probably benign Het
Ofcc1 T C 13: 40,142,838 R507G possibly damaging Het
Olfr345 T G 2: 36,640,882 V281G possibly damaging Het
Olfr478 A G 7: 108,031,582 F254L probably benign Het
Olfr938 A T 9: 39,078,237 C169* probably null Het
Pclo T A 5: 14,766,731 D4540E unknown Het
Ppp6r1 A G 7: 4,643,252 V150A probably damaging Het
Prdm2 T C 4: 143,135,088 D544G probably benign Het
Rab27b A G 18: 69,986,996 I128T possibly damaging Het
Tex10 T C 4: 48,459,915 N479D probably benign Het
Thsd7b G T 1: 129,628,885 W326L probably damaging Het
Tril T C 6: 53,820,057 D60G probably benign Het
Ttn C T 2: 76,785,281 R14984H probably damaging Het
Uba2 G A 7: 34,144,514 T12I probably damaging Het
Vmn2r107 T C 17: 20,357,958 probably benign Het
Vti1a A G 19: 55,499,271 K183R probably benign Het
Zkscan16 T C 4: 58,956,915 V399A probably benign 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
IGL02076:Slc25a1 APN 16 17927626 missense possibly damaging 0.94
IGL02137:Slc25a1 APN 16 17927370 missense probably benign 0.14
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 On2016-08-02