Incidental Mutation 'IGL02193:Slc25a3'
ID283962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a3
Ensembl Gene ENSMUSG00000061904
Gene Namesolute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3
Synonyms5730556H19Rik, Phc
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02193
Quality Score
Status
Chromosome10
Chromosomal Location91116574-91124059 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 91118115 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 245 (V245A)
Ref Sequence ENSEMBL: ENSMUSP00000127098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076694] [ENSMUST00000163246] [ENSMUST00000164505] [ENSMUST00000170810]
Predicted Effect probably benign
Transcript: ENSMUST00000076694
AA Change: V244A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000075987
Gene: ENSMUSG00000061904
AA Change: V244A

DomainStartEndE-ValueType
low complexity region 29 46 N/A INTRINSIC
Pfam:Mito_carr 58 147 3.9e-23 PFAM
Pfam:Mito_carr 156 243 4.8e-19 PFAM
Pfam:Mito_carr 254 338 3.7e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103979
Predicted Effect probably benign
Transcript: ENSMUST00000163246
SMART Domains Protein: ENSMUSP00000129301
Gene: ENSMUSG00000061904

DomainStartEndE-ValueType
low complexity region 29 46 N/A INTRINSIC
low complexity region 56 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164505
AA Change: V244A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000132480
Gene: ENSMUSG00000061904
AA Change: V244A

DomainStartEndE-ValueType
low complexity region 29 46 N/A INTRINSIC
Pfam:Mito_carr 58 147 3.9e-23 PFAM
Pfam:Mito_carr 156 243 4.8e-19 PFAM
Pfam:Mito_carr 254 338 3.7e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169339
Predicted Effect probably benign
Transcript: ENSMUST00000170810
AA Change: V245A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000127098
Gene: ENSMUSG00000061904
AA Change: V245A

DomainStartEndE-ValueType
low complexity region 29 46 N/A INTRINSIC
Pfam:Mito_carr 59 147 8.6e-21 PFAM
Pfam:Mito_carr 157 245 4.4e-19 PFAM
Pfam:Mito_carr 255 339 2.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172442
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A G 7: 140,249,000 T191A probably benign Het
9130011E15Rik G T 19: 45,972,884 T118K probably benign Het
Agl A G 3: 116,779,166 L812P probably damaging Het
Ankmy1 A T 1: 92,881,045 F714I probably benign Het
Celf5 A G 10: 81,470,673 I52T probably damaging Het
Clstn1 T C 4: 149,645,352 V771A probably benign Het
Enpep G T 3: 129,281,687 L661I possibly damaging Het
Faxc A G 4: 21,993,486 N377D possibly damaging Het
Gabrb3 A G 7: 57,792,516 E190G probably damaging Het
Gm4787 C T 12: 81,378,528 M285I probably benign Het
Gm5900 A C 7: 104,950,024 noncoding transcript Het
Gm6133 A G 18: 78,350,093 N101D probably benign Het
Gtse1 A G 15: 85,862,330 K116E probably benign Het
H2-D1 T G 17: 35,265,809 H215Q possibly damaging Het
Hdc A T 2: 126,601,780 probably benign Het
Hnrnph3 T C 10: 63,017,277 H195R probably damaging Het
Ipo8 T C 6: 148,777,284 T939A probably damaging Het
Krt79 G T 15: 101,939,905 P104T possibly damaging Het
Lama4 A T 10: 39,042,674 M384L probably benign Het
Lamb2 T G 9: 108,489,360 D1590E probably benign Het
Ly6i A T 15: 74,983,030 C10* probably null Het
Mamdc4 G A 2: 25,564,446 A1082V probably benign Het
Mrvi1 A T 7: 110,898,955 L411Q probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Nlrp4a T A 7: 26,459,692 L799H probably damaging Het
Olfr1040 A T 2: 86,146,715 N6K probably benign Het
Olfr1383 C T 11: 49,523,744 T7I possibly damaging Het
Olfr449 T C 6: 42,838,819 probably benign Het
Otud6b T C 4: 14,812,543 H268R probably damaging Het
Peg3 T C 7: 6,711,928 E138G probably damaging Het
Phactr1 T C 13: 42,709,700 probably benign Het
Psmf1 A G 2: 151,720,813 probably benign Het
Rab32 T C 10: 10,546,455 probably benign Het
Rfwd3 C T 8: 111,273,015 probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Thoc1 A G 18: 9,992,863 D545G probably benign Het
Tpst1 T A 5: 130,101,896 M69K possibly damaging Het
Trank1 T C 9: 111,367,276 V1456A probably benign Het
Trappc6a T A 7: 19,515,219 C124S possibly damaging Het
Tsc22d2 T A 3: 58,460,207 probably benign Het
Other mutations in Slc25a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01702:Slc25a3 APN 10 91118125 missense probably damaging 0.96
R1215:Slc25a3 UTSW 10 91117308 missense possibly damaging 0.95
R4737:Slc25a3 UTSW 10 91122188 missense possibly damaging 0.66
R5418:Slc25a3 UTSW 10 91119536 missense probably benign
R5799:Slc25a3 UTSW 10 91122041 missense probably benign
R6228:Slc25a3 UTSW 10 91122228 missense probably damaging 0.98
R6269:Slc25a3 UTSW 10 91117101 nonsense probably null
R6414:Slc25a3 UTSW 10 91122328 missense possibly damaging 0.66
R6866:Slc25a3 UTSW 10 91119705 missense probably damaging 0.99
R7404:Slc25a3 UTSW 10 91117040 missense possibly damaging 0.69
Posted On2015-04-16