Incidental Mutation 'R5418:Slc25a3'
ID 427866
Institutional Source Beutler Lab
Gene Symbol Slc25a3
Ensembl Gene ENSMUSG00000061904
Gene Name solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3
Synonyms Phc, 5730556H19Rik
MMRRC Submission 042986-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5418 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 90952436-90959902 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90955398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 147 (I147M)
Ref Sequence ENSEMBL: ENSMUSP00000127098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076694] [ENSMUST00000163246] [ENSMUST00000164505] [ENSMUST00000170810]
AlphaFold Q8VEM8
Predicted Effect probably benign
Transcript: ENSMUST00000076694
AA Change: I146M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075987
Gene: ENSMUSG00000061904
AA Change: I146M

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: I146M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132480
Gene: ENSMUSG00000061904
AA Change: I146M

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 noncoding transcript
Transcript: ENSMUST00000171960
Predicted Effect probably benign
Transcript: ENSMUST00000170810
AA Change: I147M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127098
Gene: ENSMUSG00000061904
AA Change: I147M

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: ENSMUST00000172442
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 99% (81/82)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,244,738 (GRCm39) S205P probably damaging Het
Abcc1 T C 16: 14,278,996 (GRCm39) V1102A probably benign Het
Acad8 A T 9: 26,896,853 (GRCm39) M202K probably damaging Het
Acoxl T A 2: 127,719,722 (GRCm39) M161K probably benign Het
Adamts4 T A 1: 171,080,143 (GRCm39) V35E probably damaging Het
Add2 A G 6: 86,087,894 (GRCm39) S614G probably benign Het
Adgrv1 T A 13: 81,567,427 (GRCm39) I5249L probably benign Het
Agps A G 2: 75,689,248 (GRCm39) T252A probably damaging Het
Alms1-ps1 G A 6: 85,732,584 (GRCm39) noncoding transcript Het
Ankrd24 T A 10: 81,480,776 (GRCm39) probably benign Het
Bcl9l A G 9: 44,416,733 (GRCm39) Q218R possibly damaging Het
Bin2 T C 15: 100,547,027 (GRCm39) Y232C probably damaging Het
Bptf A G 11: 107,002,120 (GRCm39) Y331H probably damaging Het
Ccr10 C T 11: 101,064,904 (GRCm39) V209M probably benign Het
Cflar A T 1: 58,791,810 (GRCm39) D371V possibly damaging Het
Col1a2 A G 6: 4,516,931 (GRCm39) probably benign Het
Crlf2 A G 5: 109,704,899 (GRCm39) V104A probably benign Het
Dennd1c CCGCCCCTCGCTGACAGC CC 17: 57,373,755 (GRCm39) probably null Het
Dmxl2 A G 9: 54,281,935 (GRCm39) probably null Het
Dnah17 C A 11: 117,985,810 (GRCm39) E1422D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Efcab11 A G 12: 99,821,877 (GRCm39) L80S possibly damaging Het
Emc8 G A 8: 121,385,342 (GRCm39) T130M probably damaging Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Erc2 A G 14: 27,688,467 (GRCm39) M196V probably benign Het
Etnk2 T C 1: 133,300,995 (GRCm39) I254T probably damaging Het
Fam120b C T 17: 15,622,061 (GRCm39) T13M probably damaging Het
Fam234b A G 6: 135,203,966 (GRCm39) K423E probably benign Het
Fcgbp G A 7: 27,784,738 (GRCm39) G266D probably damaging Het
Fndc4 A T 5: 31,451,978 (GRCm39) S146R probably benign Het
Frmd3 G A 4: 74,079,935 (GRCm39) probably null Het
Glrx2 C A 1: 143,615,446 (GRCm39) S16R possibly damaging Het
Gm26526 T G 7: 39,238,358 (GRCm39) noncoding transcript Het
Hc C T 2: 34,898,195 (GRCm39) probably null Het
Herc2 T C 7: 55,787,313 (GRCm39) C1695R probably damaging Het
Hic1 A G 11: 75,057,425 (GRCm39) probably null Het
Igkv4-92 A T 6: 68,732,564 (GRCm39) V5E possibly damaging Het
Irs1 G A 1: 82,266,491 (GRCm39) T575I probably damaging Het
Kcp A T 6: 29,504,283 (GRCm39) Y143* probably null Het
Klb A G 5: 65,540,813 (GRCm39) N969D probably benign Het
Klra6 T A 6: 129,990,393 (GRCm39) L239F probably damaging Het
Lhx6 A G 2: 35,977,378 (GRCm39) probably null Het
Lrrc34 G A 3: 30,696,923 (GRCm39) P116S possibly damaging Het
Map3k9 T A 12: 81,790,591 (GRCm39) K321* probably null Het
Mapk14 T C 17: 28,960,817 (GRCm39) V196A possibly damaging Het
Matcap2 G T 9: 22,343,066 (GRCm39) R187L probably damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mtmr12 T C 15: 12,270,045 (GRCm39) L711P probably damaging Het
Mylk T C 16: 34,732,600 (GRCm39) S627P probably benign Het
Nbea A T 3: 55,553,410 (GRCm39) Y2631N possibly damaging Het
Ncoa7 A G 10: 30,524,035 (GRCm39) V153A probably damaging Het
Or4a79 T C 2: 89,552,343 (GRCm39) I37M probably benign Het
Pax6 A T 2: 105,521,910 (GRCm39) D175V probably benign Het
Piezo1 A G 8: 123,213,519 (GRCm39) L1793P probably damaging Het
Pkp4 T C 2: 59,140,506 (GRCm39) V404A probably benign Het
Plxnb2 A G 15: 89,050,694 (GRCm39) Y421H probably benign Het
Prkdc T G 16: 15,612,961 (GRCm39) V3173G probably benign Het
Prss40 A T 1: 34,599,840 (GRCm39) I49N probably benign Het
Prx T A 7: 27,216,699 (GRCm39) V400E probably damaging Het
Rbm11 A C 16: 75,393,423 (GRCm39) T40P probably damaging Het
Resf1 T C 6: 149,227,634 (GRCm39) Y227H probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sema3f A G 9: 107,569,820 (GRCm39) Y70H probably damaging Het
Senp6 G A 9: 80,029,151 (GRCm39) E505K possibly damaging Het
Slc4a7 T A 14: 14,760,280 (GRCm38) S572T probably benign Het
Smarcal1 C T 1: 72,638,068 (GRCm39) P501S probably benign Het
Sox7 C T 14: 64,185,396 (GRCm39) T144M probably benign Het
Taar1 T C 10: 23,797,214 (GRCm39) F304S possibly damaging Het
Tcf3 A G 10: 80,263,517 (GRCm39) F46L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tpcn2 C T 7: 144,832,518 (GRCm39) E113K probably damaging Het
Vmn1r232 T A 17: 21,134,378 (GRCm39) Y74F possibly damaging Het
Vmn2r102 C T 17: 19,914,415 (GRCm39) T660I probably damaging Het
Zdhhc3 A G 9: 122,909,456 (GRCm39) M234T probably damaging Het
Zfp960 T A 17: 17,307,805 (GRCm39) L173H probably damaging Het
Other mutations in Slc25a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01702:Slc25a3 APN 10 90,953,987 (GRCm39) missense probably damaging 0.96
IGL02193:Slc25a3 APN 10 90,953,977 (GRCm39) missense probably benign 0.01
R1215:Slc25a3 UTSW 10 90,953,170 (GRCm39) missense possibly damaging 0.95
R4737:Slc25a3 UTSW 10 90,958,050 (GRCm39) missense possibly damaging 0.66
R5799:Slc25a3 UTSW 10 90,957,903 (GRCm39) missense probably benign
R6228:Slc25a3 UTSW 10 90,958,090 (GRCm39) missense probably damaging 0.98
R6269:Slc25a3 UTSW 10 90,952,963 (GRCm39) nonsense probably null
R6414:Slc25a3 UTSW 10 90,958,190 (GRCm39) missense possibly damaging 0.66
R6866:Slc25a3 UTSW 10 90,955,567 (GRCm39) missense probably damaging 0.99
R7404:Slc25a3 UTSW 10 90,952,902 (GRCm39) missense possibly damaging 0.69
R7633:Slc25a3 UTSW 10 90,953,904 (GRCm39) critical splice donor site probably null
R8222:Slc25a3 UTSW 10 90,954,053 (GRCm39) missense probably damaging 1.00
R8751:Slc25a3 UTSW 10 90,952,960 (GRCm39) missense probably benign 0.06
Z1176:Slc25a3 UTSW 10 90,959,473 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAGAAACCCCAGACTCTTCTCTTAC -3'
(R):5'- GGACCCTCAGAAGTACAAAGGC -3'

Sequencing Primer
(F):5'- GAAATACACTTTGCTTTTCATCCTG -3'
(R):5'- ACAAAGGCATATTTAATGGATTCTCC -3'
Posted On 2016-09-01