Incidental Mutation 'R6866:Slc25a3'
ID 535933
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 044965-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6866 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 90952436-90959902 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90955567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 91 (V91E)
Ref Sequence ENSEMBL: ENSMUSP00000127098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076694] [ENSMUST00000163246] [ENSMUST00000164505] [ENSMUST00000170810]
AlphaFold Q8VEM8
Predicted Effect probably damaging
Transcript: ENSMUST00000076694
AA Change: V90E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075987
Gene: ENSMUSG00000061904
AA Change: V90E

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 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 damaging
Transcript: ENSMUST00000164505
AA Change: V90E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132480
Gene: ENSMUSG00000061904
AA Change: V90E

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 probably damaging
Transcript: ENSMUST00000170810
AA Change: V91E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127098
Gene: ENSMUSG00000061904
AA Change: V91E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,598,080 (GRCm39) T1438A possibly damaging Het
Als2 T A 1: 59,250,292 (GRCm39) Q484L probably damaging Het
Apeh G A 9: 107,969,878 (GRCm39) H186Y probably damaging Het
Bcl2l13 T A 6: 120,839,850 (GRCm39) N49K probably benign Het
Bptf T C 11: 106,964,406 (GRCm39) D1596G probably damaging Het
Brsk1 T C 7: 4,709,406 (GRCm39) M325T probably damaging Het
Caly T C 7: 139,650,532 (GRCm39) M137V probably benign Het
Cdca2 T C 14: 67,931,115 (GRCm39) E526G possibly damaging Het
Cnga4 A G 7: 105,056,952 (GRCm39) S352G possibly damaging Het
Cntnap5c A C 17: 58,399,289 (GRCm39) T381P probably benign Het
Cr2 T A 1: 194,833,999 (GRCm39) Y633F probably damaging Het
Cryba1 T C 11: 77,610,355 (GRCm39) N120S probably benign Het
Cyfip2 G A 11: 46,133,286 (GRCm39) R805* probably null Het
Dnah7c C A 1: 46,696,403 (GRCm39) P2095Q probably damaging Het
Eif3k T C 7: 28,676,651 (GRCm39) E110G possibly damaging Het
Extl2 T A 3: 115,821,002 (GRCm39) M283K probably damaging Het
Extl2 A G 3: 115,821,001 (GRCm39) M283V probably damaging Het
Focad T C 4: 88,321,623 (GRCm39) I1658T probably benign Het
Fstl5 A T 3: 76,229,532 (GRCm39) H111L probably damaging Het
Garnl3 A G 2: 32,892,785 (GRCm39) probably null Het
Gm3633 T A 14: 42,462,579 (GRCm39) probably benign Het
Il4i1 T A 7: 44,485,963 (GRCm39) probably null Het
Kcnj6 A T 16: 94,563,536 (GRCm39) C321S probably damaging Het
Kif20a A T 18: 34,761,546 (GRCm39) Y313F probably benign Het
Kmt2d T G 15: 98,755,274 (GRCm39) probably benign Het
Kynu T A 2: 43,453,122 (GRCm39) Y48* probably null Het
Ly9 T C 1: 171,432,847 (GRCm39) I55M probably damaging Het
Mgme1 T C 2: 144,118,439 (GRCm39) V237A probably damaging Het
Mmp16 T A 4: 17,853,800 (GRCm39) L27H probably benign Het
Mtres1 ACTGCACCACCT ACT 10: 43,408,721 (GRCm39) probably benign Het
Myh1 A C 11: 67,115,219 (GRCm39) D1918A probably damaging Het
Myo5a G A 9: 75,047,970 (GRCm39) C266Y probably damaging Het
Nckap5l A G 15: 99,324,349 (GRCm39) I718T probably benign Het
Nptx1 A G 11: 119,437,476 (GRCm39) probably null Het
Or56a42-ps1 T A 7: 104,775,825 (GRCm39) M228L probably benign Het
Or5k16 A G 16: 58,736,351 (GRCm39) Y218H probably damaging Het
Or5p76 A G 7: 108,122,377 (GRCm39) F260S probably damaging Het
Phc3 T A 3: 30,968,680 (GRCm39) K783* probably null Het
Pkdrej A T 15: 85,705,082 (GRCm39) C285S probably damaging Het
Pot1b T A 17: 55,960,474 (GRCm39) T619S possibly damaging Het
Pramel32 T A 4: 88,545,977 (GRCm39) D455V probably damaging Het
Psg21 A T 7: 18,386,209 (GRCm39) V259E probably damaging Het
Pvr A C 7: 19,652,555 (GRCm39) I120S probably benign Het
Rbm17 T G 2: 11,602,901 (GRCm39) I68L probably benign Het
Rnf138 C T 18: 21,135,199 (GRCm39) P28L probably damaging Het
Rnf207 C T 4: 152,396,989 (GRCm39) C385Y possibly damaging Het
Serping1 A C 2: 84,600,577 (GRCm39) V255G probably benign Het
Slc26a8 T C 17: 28,857,455 (GRCm39) D896G probably benign Het
Slc27a5 T A 7: 12,731,443 (GRCm39) T183S probably benign Het
Slc33a1 A T 3: 63,850,744 (GRCm39) F527I probably benign Het
Sting1 T C 18: 35,872,482 (GRCm39) H50R probably damaging Het
Strn4 A T 7: 16,562,710 (GRCm39) D283V probably damaging Het
Sult1e1 G A 5: 87,734,625 (GRCm39) T107I probably damaging Het
Tango6 G A 8: 107,469,104 (GRCm39) probably null Het
Tecrl G T 5: 83,461,161 (GRCm39) P99T probably damaging Het
Ticrr T C 7: 79,343,705 (GRCm39) L1190P possibly damaging Het
Timm50 C T 7: 28,005,370 (GRCm39) R349H probably damaging Het
Tjp2 A G 19: 24,079,355 (GRCm39) I840T probably damaging Het
Tmem45a2 T A 16: 56,867,386 (GRCm39) N105I probably damaging Het
Tsbp1 T A 17: 34,678,935 (GRCm39) C216S possibly damaging Het
Zfp148 T A 16: 33,288,496 (GRCm39) C162S probably damaging Het
Zfp534 T C 4: 147,758,938 (GRCm39) K577R probably benign 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
R5418:Slc25a3 UTSW 10 90,955,398 (GRCm39) missense probably benign
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
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'- TCACCAAGTATGTTGCTATATAAGGCT -3'
(R):5'- GAAGCATATACACAGGAATATACCAC -3'

Sequencing Primer
(F):5'- GCTTTGAAGACTTCATAAAAGCCG -3'
(R):5'- GCTAAGAACTTTCATATACCTTTTG -3'
Posted On 2018-10-18