Incidental Mutation 'R6420:Slc25a23'
ID 518170
Institutional Source Beutler Lab
Gene Symbol Slc25a23
Ensembl Gene ENSMUSG00000046329
Gene Name solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23
Synonyms SCaMC-3, 2310067G05Rik
MMRRC Submission 044562-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6420 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 57350711-57366863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57359780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 324 (I324V)
Ref Sequence ENSEMBL: ENSMUSP00000040198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040280] [ENSMUST00000171528]
AlphaFold Q6GQS1
Predicted Effect probably damaging
Transcript: ENSMUST00000040280
AA Change: I324V

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: I324V

DomainStartEndE-ValueType
EFh 13 41 2.72e-3 SMART
EFh 80 108 1.09e0 SMART
EFh 116 144 3.07e1 SMART
Pfam:Mito_carr 181 273 3.8e-25 PFAM
Pfam:Mito_carr 274 366 4.1e-26 PFAM
Pfam:Mito_carr 372 465 6.5e-21 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000163442
AA Change: I15V
SMART Domains Protein: ENSMUSP00000132962
Gene: ENSMUSG00000046329
AA Change: I15V

DomainStartEndE-ValueType
Pfam:Mito_carr 1 58 6.5e-15 PFAM
Pfam:Mito_carr 64 123 1.9e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165187
Predicted Effect unknown
Transcript: ENSMUST00000170015
AA Change: I123V
SMART Domains Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: I123V

DomainStartEndE-ValueType
Pfam:Mito_carr 1 76 1.9e-19 PFAM
Pfam:Mito_carr 77 166 1.2e-21 PFAM
Pfam:Mito_carr 172 265 7.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171128
Predicted Effect probably benign
Transcript: ENSMUST00000171528
AA Change: I72V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128348
Gene: ENSMUSG00000046329
AA Change: I72V

DomainStartEndE-ValueType
Pfam:Mito_carr 22 114 8.3e-29 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired mitochondrial function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,566 (GRCm39) I117N probably damaging Het
Abca15 A G 7: 119,996,351 (GRCm39) K1426E possibly damaging Het
Arhgef17 A G 7: 100,579,269 (GRCm39) S560P probably damaging Het
Asb13 G A 13: 3,693,574 (GRCm39) V111I probably damaging Het
Dhx16 A G 17: 36,193,906 (GRCm39) E367G possibly damaging Het
Epc2 T C 2: 49,341,912 (GRCm39) V32A probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Hdlbp T C 1: 93,358,726 (GRCm39) E275G probably damaging Het
Kdm7a T C 6: 39,142,102 (GRCm39) D392G probably damaging Het
Lgmn T A 12: 102,389,978 (GRCm39) R4* probably null Het
Lrrk2 C T 15: 91,696,549 (GRCm39) R2446C probably benign Het
Map3k10 A G 7: 27,362,709 (GRCm39) F459S probably damaging Het
Mup1 C G 4: 60,457,758 (GRCm39) E31Q possibly damaging Het
Nckap1l G C 15: 103,399,893 (GRCm39) G1025A possibly damaging Het
Or4d10 T G 19: 12,051,324 (GRCm39) K224T probably benign Het
Or5b24 A C 19: 12,912,584 (GRCm39) T161P probably damaging Het
Or8b39 T A 9: 37,996,890 (GRCm39) S253T probably benign Het
Or8b41 T G 9: 38,054,611 (GRCm39) L55R probably damaging Het
Or8k38 A T 2: 86,488,510 (GRCm39) C97* probably null Het
Pik3r5 G A 11: 68,366,250 (GRCm39) W42* probably null Het
Pkd1l2 C T 8: 117,740,638 (GRCm39) C2153Y probably damaging Het
Rad1 T C 15: 10,488,098 (GRCm39) V74A probably benign Het
Scara3 C T 14: 66,175,701 (GRCm39) G22D possibly damaging Het
Scn1a A G 2: 66,103,542 (GRCm39) I1906T probably damaging Het
Sema5b T A 16: 35,483,516 (GRCm39) D1051E probably benign Het
Slc16a12 T C 19: 34,650,097 (GRCm39) probably null Het
Sord A T 2: 122,094,602 (GRCm39) K330M possibly damaging Het
Spag9 T C 11: 93,977,128 (GRCm39) V78A probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tnrc6a A G 7: 122,770,297 (GRCm39) T696A probably benign Het
Ttn A G 2: 76,542,619 (GRCm39) Y33456H possibly damaging Het
Unc45a C G 7: 79,989,400 (GRCm39) E23Q probably benign Het
Urb2 C T 8: 124,773,938 (GRCm39) R1490W probably damaging Het
Zfp62 A T 11: 49,107,340 (GRCm39) N477I probably damaging Het
Zfp846 T C 9: 20,505,007 (GRCm39) L289P probably damaging Het
Zfp959 G A 17: 56,205,094 (GRCm39) G377D probably damaging Het
Zswim3 G A 2: 164,662,653 (GRCm39) V378M probably damaging Het
Other mutations in Slc25a23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Slc25a23 APN 17 57,354,233 (GRCm39) missense probably benign 0.01
IGL01614:Slc25a23 APN 17 57,352,579 (GRCm39) missense probably null 0.98
IGL01919:Slc25a23 APN 17 57,354,291 (GRCm39) missense possibly damaging 0.61
IGL01933:Slc25a23 APN 17 57,359,813 (GRCm39) nonsense probably null
IGL02297:Slc25a23 APN 17 57,360,324 (GRCm39) missense probably benign 0.00
R1317:Slc25a23 UTSW 17 57,360,888 (GRCm39) missense possibly damaging 0.63
R1411:Slc25a23 UTSW 17 57,366,622 (GRCm39) missense probably damaging 0.97
R1577:Slc25a23 UTSW 17 57,354,306 (GRCm39) missense probably benign 0.00
R2156:Slc25a23 UTSW 17 57,352,562 (GRCm39) missense probably benign 0.00
R4581:Slc25a23 UTSW 17 57,359,740 (GRCm39) missense probably damaging 0.96
R4755:Slc25a23 UTSW 17 57,359,794 (GRCm39) missense possibly damaging 0.92
R4786:Slc25a23 UTSW 17 57,354,326 (GRCm39) missense possibly damaging 0.68
R4789:Slc25a23 UTSW 17 57,366,597 (GRCm39) missense probably damaging 1.00
R5402:Slc25a23 UTSW 17 57,360,336 (GRCm39) missense probably benign 0.07
R5423:Slc25a23 UTSW 17 57,360,597 (GRCm39) missense probably damaging 0.99
R5478:Slc25a23 UTSW 17 57,359,780 (GRCm39) missense probably damaging 1.00
R5659:Slc25a23 UTSW 17 57,352,500 (GRCm39) unclassified probably benign
R5787:Slc25a23 UTSW 17 57,360,825 (GRCm39) missense probably damaging 1.00
R6417:Slc25a23 UTSW 17 57,359,780 (GRCm39) missense probably damaging 0.98
R6462:Slc25a23 UTSW 17 57,359,720 (GRCm39) missense probably damaging 1.00
R6830:Slc25a23 UTSW 17 57,360,804 (GRCm39) nonsense probably null
R6858:Slc25a23 UTSW 17 57,365,171 (GRCm39) missense probably damaging 1.00
R7311:Slc25a23 UTSW 17 57,359,827 (GRCm39) missense probably damaging 1.00
R7381:Slc25a23 UTSW 17 57,360,587 (GRCm39) missense probably damaging 1.00
R7491:Slc25a23 UTSW 17 57,359,822 (GRCm39) nonsense probably null
R7543:Slc25a23 UTSW 17 57,365,106 (GRCm39) critical splice donor site probably null
R7646:Slc25a23 UTSW 17 57,366,759 (GRCm39) unclassified probably benign
R8879:Slc25a23 UTSW 17 57,366,709 (GRCm39) unclassified probably benign
R9042:Slc25a23 UTSW 17 57,352,553 (GRCm39) missense probably damaging 1.00
R9076:Slc25a23 UTSW 17 57,354,309 (GRCm39) missense probably benign 0.00
R9399:Slc25a23 UTSW 17 57,360,930 (GRCm39) missense probably damaging 1.00
X0026:Slc25a23 UTSW 17 57,362,350 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- AGGGTTCCAAGACCCAACATAG -3'
(R):5'- CACATCTGCTTTCAGGAGTAGC -3'

Sequencing Primer
(F):5'- GGGTTCCAAGACCCAACATAGTTTTC -3'
(R):5'- AGTAGCCACTTCTAGGTGATGTCAC -3'
Posted On 2018-05-24