Incidental Mutation 'IGL01933:Slc25a23'
ID180493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a23
Ensembl Gene ENSMUSG00000046329
Gene Namesolute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01933
Quality Score
Status
Chromosome17
Chromosomal Location57043711-57059863 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 57052813 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 61 (Q61*)
Ref Sequence ENSEMBL: ENSMUSP00000128348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040280] [ENSMUST00000171528]
Predicted Effect probably null
Transcript: ENSMUST00000040280
AA Change: Q313*
SMART Domains Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: Q313*

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 null
Transcript: ENSMUST00000163442
AA Change: Q4*
SMART Domains Protein: ENSMUSP00000132962
Gene: ENSMUSG00000046329
AA Change: Q4*

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 probably null
Transcript: ENSMUST00000170015
AA Change: Q112*
SMART Domains Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: Q112*

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 null
Transcript: ENSMUST00000171528
AA Change: Q61*
SMART Domains Protein: ENSMUSP00000128348
Gene: ENSMUSG00000046329
AA Change: Q61*

DomainStartEndE-ValueType
Pfam:Mito_carr 22 114 8.3e-29 PFAM
Coding Region Coverage
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,257,367 V575F possibly damaging Het
Abca2 T A 2: 25,444,111 V1800E probably damaging Het
Acacb C T 5: 114,184,190 probably benign Het
Adam34 C A 8: 43,651,532 G359W probably damaging Het
Ankrd42 G A 7: 92,605,285 T372I probably benign Het
Apc2 A G 10: 80,311,740 D847G probably damaging Het
Arap3 T A 18: 37,978,453 T1137S possibly damaging Het
Atp10b A C 11: 43,194,630 T279P probably damaging Het
Bmp2 T A 2: 133,554,658 M78K possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Ccdc61 T G 7: 18,892,558 M369L probably benign Het
Cep78 A T 19: 15,955,940 I758N probably benign Het
Ces2a A G 8: 104,741,415 *526W probably null Het
Cgnl1 C T 9: 71,645,483 probably benign Het
Clec14a A G 12: 58,268,318 Y173H probably damaging Het
Cntn4 G A 6: 106,694,384 S976N probably damaging Het
Col6a4 G A 9: 106,060,114 T1401I probably benign Het
D5Ertd579e T C 5: 36,615,756 T432A probably benign Het
Dixdc1 G A 9: 50,703,258 R163* probably null Het
Dmxl1 C A 18: 49,877,785 T1003K probably benign Het
Dnah1 G A 14: 31,310,915 R388W probably benign Het
Eci3 C T 13: 34,948,789 A202T probably damaging Het
Egr2 T C 10: 67,540,194 S220P probably damaging Het
Fntb C T 12: 76,920,106 P405S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm26602 C A 10: 79,911,121 R236L probably benign Het
Hao2 T C 3: 98,880,332 probably benign Het
Irgm2 A T 11: 58,219,957 N170I possibly damaging Het
Klhl20 G A 1: 161,106,787 R221W probably damaging Het
Kmt2b A G 7: 30,569,514 probably null Het
Lrrc46 C T 11: 97,035,528 E181K probably benign Het
Lztr1 T A 16: 17,520,591 V226E probably damaging Het
Myh9 G T 15: 77,781,218 D684E probably benign Het
Myo7a T C 7: 98,083,142 T713A probably damaging Het
Nrap G T 19: 56,388,818 N62K probably damaging Het
Olfr1434 A T 19: 12,283,705 Y219F probably damaging Het
Olfr642 T C 7: 104,049,814 Y180C probably damaging Het
Osbp2 T C 11: 3,712,016 D708G probably damaging Het
Pcnx2 G A 8: 125,761,654 P1717L probably damaging Het
Pex1 A G 5: 3,633,789 D1095G probably damaging Het
Ptpn3 T C 4: 57,197,576 H771R probably benign Het
R3hcc1l G A 19: 42,562,950 A129T probably damaging Het
Rbm15 G A 3: 107,331,103 R660W probably damaging Het
Recql C T 6: 142,364,638 V489M probably benign Het
Sash1 A T 10: 8,751,133 S162R probably damaging Het
Sec11a T C 7: 80,935,062 I42M probably benign Het
Son A T 16: 91,658,015 M1217L probably benign Het
Srgap2 T C 1: 131,411,855 N123S probably damaging Het
Ssh1 T C 5: 113,950,380 probably benign Het
St13 T C 15: 81,389,698 probably null Het
St3gal3 A T 4: 118,031,875 D57E probably damaging Het
Stk4 C T 2: 164,098,585 probably benign Het
Tln1 T A 4: 43,539,508 T1605S probably benign Het
Tln1 T C 4: 43,555,894 T107A possibly damaging Het
Tmem135 G T 7: 89,143,857 probably benign Het
Tmtc3 A G 10: 100,447,605 M696T probably benign Het
Trbv29 T A 6: 41,271,827 L97Q probably damaging Het
Trpc4ap A T 2: 155,639,535 F534I possibly damaging Het
Trpm8 T C 1: 88,326,405 Y117H probably damaging Het
Zfp608 T C 18: 54,987,799 T239A probably benign Het
Zmym5 T G 14: 56,804,160 H162P probably damaging Het
Other mutations in Slc25a23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Slc25a23 APN 17 57047233 missense probably benign 0.01
IGL01614:Slc25a23 APN 17 57045579 missense probably null 0.98
IGL01919:Slc25a23 APN 17 57047291 missense possibly damaging 0.61
IGL02297:Slc25a23 APN 17 57053324 missense probably benign 0.00
R1317:Slc25a23 UTSW 17 57053888 missense possibly damaging 0.63
R1411:Slc25a23 UTSW 17 57059622 missense probably damaging 0.97
R1577:Slc25a23 UTSW 17 57047306 missense probably benign 0.00
R2156:Slc25a23 UTSW 17 57045562 missense probably benign 0.00
R4581:Slc25a23 UTSW 17 57052740 missense probably damaging 0.96
R4755:Slc25a23 UTSW 17 57052794 missense possibly damaging 0.92
R4786:Slc25a23 UTSW 17 57047326 missense possibly damaging 0.68
R4789:Slc25a23 UTSW 17 57059597 missense probably damaging 1.00
R5402:Slc25a23 UTSW 17 57053336 missense probably benign 0.07
R5423:Slc25a23 UTSW 17 57053597 missense probably damaging 0.99
R5478:Slc25a23 UTSW 17 57052780 missense probably damaging 1.00
R5659:Slc25a23 UTSW 17 57045500 unclassified probably benign
R5787:Slc25a23 UTSW 17 57053825 missense probably damaging 1.00
R6417:Slc25a23 UTSW 17 57052780 missense probably damaging 0.98
R6420:Slc25a23 UTSW 17 57052780 missense probably damaging 0.98
R6462:Slc25a23 UTSW 17 57052720 missense probably damaging 1.00
R6830:Slc25a23 UTSW 17 57053804 nonsense probably null
R6858:Slc25a23 UTSW 17 57058171 missense probably damaging 1.00
R7311:Slc25a23 UTSW 17 57052827 missense probably damaging 1.00
R7381:Slc25a23 UTSW 17 57053587 missense probably damaging 1.00
R7491:Slc25a23 UTSW 17 57052822 nonsense probably null
R7543:Slc25a23 UTSW 17 57058106 critical splice donor site probably null
R7646:Slc25a23 UTSW 17 57059759 unclassified probably benign
X0026:Slc25a23 UTSW 17 57055350 missense probably benign 0.09
Posted On2014-05-07