Incidental Mutation 'R7381:Slc25a23'
ID 572765
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 045463-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7381 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 57350711-57366863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57360587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 251 (I251K)
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: I251K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: I251K

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 probably benign
Transcript: ENSMUST00000163442
SMART Domains Protein: ENSMUSP00000132962
Gene: ENSMUSG00000046329

DomainStartEndE-ValueType
Pfam:Mito_carr 1 58 6.5e-15 PFAM
Pfam:Mito_carr 64 123 1.9e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170015
AA Change: I53K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: I53K

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
SMART Domains Protein: ENSMUSP00000128348
Gene: ENSMUSG00000046329

DomainStartEndE-ValueType
Pfam:Mito_carr 22 114 8.3e-29 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (88/90)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,323,122 (GRCm39) Y53H probably damaging Het
Abca8a A T 11: 109,920,913 (GRCm39) probably null Het
Acads C A 5: 115,249,057 (GRCm39) Q365H probably damaging Het
Acsm3 A G 7: 119,380,049 (GRCm39) D462G probably damaging Het
Adam39 T A 8: 41,279,000 (GRCm39) C464S probably damaging Het
Adgra3 A G 5: 50,216,116 (GRCm39) M1T probably null Het
AI182371 T C 2: 34,975,371 (GRCm39) Y276C probably damaging Het
Ank2 T A 3: 126,730,277 (GRCm39) H719L possibly damaging Het
Ano7 G A 1: 93,323,057 (GRCm39) V466I probably benign Het
Art5 A G 7: 101,747,377 (GRCm39) L134P probably damaging Het
Atcay A G 10: 81,046,431 (GRCm39) Y298H possibly damaging Het
Atp1a4 A T 1: 172,067,682 (GRCm39) F527Y possibly damaging Het
Bpifb2 A T 2: 153,734,268 (GRCm39) M428L probably benign Het
Brinp2 A C 1: 158,073,913 (GRCm39) V736G probably benign Het
Cdc5l C T 17: 45,722,849 (GRCm39) A437T probably benign Het
Cdx2 G A 5: 147,243,440 (GRCm39) P118L possibly damaging Het
Chpt1 G A 10: 88,311,193 (GRCm39) probably null Het
Creb3l2 T A 6: 37,312,783 (GRCm39) E417V probably damaging Het
Csnk2a1 A G 2: 152,100,614 (GRCm39) T129A probably benign Het
Dennd6b A T 15: 89,070,376 (GRCm39) L431Q possibly damaging Het
Dgkz C T 2: 91,775,180 (GRCm39) A260T probably benign Het
Dhx34 T A 7: 15,949,373 (GRCm39) T352S probably benign Het
Elp4 C T 2: 105,622,652 (GRCm39) R349Q not run Het
Emsy A C 7: 98,240,010 (GRCm39) F1228V probably damaging Het
Eps8l1 T A 7: 4,473,437 (GRCm39) probably null Het
Faf1 T A 4: 109,719,134 (GRCm39) D413E probably damaging Het
Fat3 T C 9: 16,158,283 (GRCm39) Y1109C probably damaging Het
Fbp1 T C 13: 63,012,867 (GRCm39) K314E probably benign Het
Fbxl20 A G 11: 97,981,614 (GRCm39) V358A probably benign Het
Fbxo34 C G 14: 47,767,992 (GRCm39) R502G probably benign Het
Fxr2 G A 11: 69,532,875 (GRCm39) C151Y possibly damaging Het
Garin5b C A 7: 4,760,681 (GRCm39) R677L Het
Gja8 T C 3: 96,827,338 (GRCm39) D108G probably benign Het
Gm10722 C A 9: 3,001,235 (GRCm39) L104I probably benign Het
Grsf1 A G 5: 88,813,666 (GRCm39) V361A probably benign Het
Gsap T A 5: 21,431,785 (GRCm39) I228N probably damaging Het
Hagh T C 17: 25,075,686 (GRCm39) I131T probably damaging Het
Heca A T 10: 17,791,272 (GRCm39) Y261* probably null Het
Hipk3 A G 2: 104,269,696 (GRCm39) F498L probably damaging Het
Hps4 T A 5: 112,523,324 (GRCm39) I614N possibly damaging Het
Icam1 T C 9: 20,938,886 (GRCm39) S450P probably benign Het
Il22 G A 10: 118,041,069 (GRCm39) M58I possibly damaging Het
Khdrbs2 T A 1: 32,372,883 (GRCm39) S186T not run Het
Kif16b A G 2: 142,699,343 (GRCm39) F79S probably damaging Het
Kntc1 C A 5: 123,948,971 (GRCm39) F1905L probably benign Het
Liat1 A T 11: 75,893,833 (GRCm39) D70V probably damaging Het
Lrp1b C T 2: 40,692,929 (GRCm39) G3423D Het
Lrp5 G T 19: 3,643,588 (GRCm39) Q1346K probably benign Het
Map3k21 A C 8: 126,671,717 (GRCm39) T1002P possibly damaging Het
Mdga2 G T 12: 66,615,670 (GRCm39) R646S probably benign Het
Mex3b G T 7: 82,518,073 (GRCm39) M129I possibly damaging Het
Mfsd10 G T 5: 34,793,770 (GRCm39) N85K probably damaging Het
Mios A G 6: 8,216,064 (GRCm39) D420G probably damaging Het
Mogs C A 6: 83,092,613 (GRCm39) P18T unknown Het
Mrgpre A G 7: 143,335,150 (GRCm39) C118R probably damaging Het
Muc4 A T 16: 32,601,285 (GRCm39) H1321L Het
Nkapl T C 13: 21,651,759 (GRCm39) K285E probably damaging Het
Nphp4 C T 4: 152,583,460 (GRCm39) P200S possibly damaging Het
Piezo1 A G 8: 123,228,397 (GRCm39) F297L Het
Pkhd1 T G 1: 20,271,197 (GRCm39) S3119R probably damaging Het
Pla2g15 G A 8: 106,889,576 (GRCm39) V283I probably benign Het
Ppp1r13l T A 7: 19,102,786 (GRCm39) probably null Het
Prex1 A G 2: 166,429,047 (GRCm39) Y849H probably damaging Het
Psg27 C A 7: 18,301,008 (GRCm39) W15L probably benign Het
Ptar1 A T 19: 23,686,334 (GRCm39) probably null Het
Ptpn6 G A 6: 124,705,135 (GRCm39) R264C probably damaging Het
Ptprb A G 10: 116,177,038 (GRCm39) I988V probably benign Het
Ptpro G A 6: 137,376,559 (GRCm39) V680I possibly damaging Het
Rnf170 C T 8: 26,613,876 (GRCm39) P28S probably benign Het
Rnpepl1 A G 1: 92,846,917 (GRCm39) S580G possibly damaging Het
Rtel1 C T 2: 180,972,608 (GRCm39) R29* probably null Het
Rtkn T C 6: 83,128,726 (GRCm39) L26P probably damaging Het
Sdk2 A C 11: 113,729,315 (GRCm39) S1087R probably damaging Het
Sema7a C T 9: 57,860,852 (GRCm39) P71L probably benign Het
Sgpp1 C T 12: 75,763,038 (GRCm39) C381Y probably damaging Het
Sis A T 3: 72,820,625 (GRCm39) probably null Het
Slc24a5 A C 2: 124,910,869 (GRCm39) D100A probably benign Het
Slc6a5 T A 7: 49,579,804 (GRCm39) L394H probably damaging Het
Slc7a4 A T 16: 17,392,920 (GRCm39) M293K probably damaging Het
Syne2 T A 12: 75,973,263 (GRCm39) S1089T probably benign Het
Tanc1 A T 2: 59,615,670 (GRCm39) T226S probably damaging Het
Tdrd6 T C 17: 43,936,984 (GRCm39) T1355A probably benign Het
Tmem101 A G 11: 102,044,176 (GRCm39) M237T possibly damaging Het
Ttn G A 2: 76,749,359 (GRCm39) H3897Y possibly damaging Het
Tubb4a C T 17: 57,387,698 (GRCm39) V443M unknown Het
Ucp2 G A 7: 100,147,576 (GRCm39) R185H possibly damaging Het
Vmn1r116 G T 7: 20,606,436 (GRCm39) E86* probably null Het
Vmn2r37 T C 7: 9,213,032 (GRCm39) E530G probably benign Het
Vwa8 A G 14: 79,333,125 (GRCm39) T1293A probably benign Het
Zfc3h1 T A 10: 115,260,535 (GRCm39) Y1711N probably benign Het
Zfp873 A T 10: 81,896,805 (GRCm39) E512V probably damaging Het
Zfyve16 T A 13: 92,657,654 (GRCm39) K752N probably damaging Het
Zhx1 T C 15: 57,916,561 (GRCm39) N562D possibly 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
R6420: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
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'- ATAACATGGCTGTGGGACTG -3'
(R):5'- ATCATCTAGGCCCAGACCTAG -3'

Sequencing Primer
(F):5'- GGGGTCCTTGCATTCCAAC -3'
(R):5'- TAGGCCCAGACCTAGGAGGG -3'
Posted On 2019-09-13