Incidental Mutation 'IGL03348:Slc25a11'
ID 419588
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a11
Ensembl Gene ENSMUSG00000014606
Gene Name solute carrier family 25 (mitochondrial carrier oxoglutarate carrier), member 11
Synonyms 2310022P18Rik, 2oxoc
Accession Numbers
Essential gene? Probably essential (E-score: 0.826) question?
Stock # IGL03348
Quality Score
Status
Chromosome 11
Chromosomal Location 70535022-70538305 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 70536170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014750] [ENSMUST00000037534] [ENSMUST00000055184] [ENSMUST00000108551] [ENSMUST00000139638] [ENSMUST00000141695] [ENSMUST00000136383] [ENSMUST00000152160]
AlphaFold Q9CR62
Predicted Effect probably benign
Transcript: ENSMUST00000014750
SMART Domains Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606

DomainStartEndE-ValueType
Pfam:Mito_carr 18 112 1.3e-22 PFAM
Pfam:Mito_carr 115 213 2.6e-19 PFAM
Pfam:Mito_carr 216 311 5.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000037534
SMART Domains Protein: ENSMUSP00000036472
Gene: ENSMUSG00000040746

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:PA 53 150 1.4e-14 PFAM
transmembrane domain 172 194 N/A INTRINSIC
RING 230 271 2.65e-9 SMART
low complexity region 278 303 N/A INTRINSIC
low complexity region 332 343 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000055184
SMART Domains Protein: ENSMUSP00000057563
Gene: ENSMUSG00000050675

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
LRRNT 19 51 1.66e-1 SMART
LRR 70 91 2.54e2 SMART
LRR 92 114 9.96e-1 SMART
LRR_TYP 115 138 1.56e-2 SMART
LRR_TYP 139 162 1.47e-3 SMART
LRR 163 186 1.89e-1 SMART
LRR 187 210 8.09e-1 SMART
LRRCT 221 281 2.53e-12 SMART
low complexity region 403 432 N/A INTRINSIC
low complexity region 446 530 N/A INTRINSIC
low complexity region 533 579 N/A INTRINSIC
transmembrane domain 612 634 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
PDB:2BP3|T 680 701 2e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000108551
SMART Domains Protein: ENSMUSP00000104191
Gene: ENSMUSG00000050675

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
LRRNT 19 51 1.66e-1 SMART
LRR 70 91 2.54e2 SMART
LRR 92 114 9.96e-1 SMART
LRR_TYP 115 138 1.56e-2 SMART
LRR_TYP 139 162 1.47e-3 SMART
LRR 163 186 1.89e-1 SMART
LRR 187 210 8.09e-1 SMART
LRRCT 221 281 2.53e-12 SMART
low complexity region 403 432 N/A INTRINSIC
low complexity region 446 530 N/A INTRINSIC
low complexity region 533 579 N/A INTRINSIC
transmembrane domain 612 634 N/A INTRINSIC
low complexity region 650 662 N/A INTRINSIC
PDB:2BP3|T 680 701 2e-6 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134804
Predicted Effect probably benign
Transcript: ENSMUST00000139638
SMART Domains Protein: ENSMUSP00000114685
Gene: ENSMUSG00000014606

DomainStartEndE-ValueType
Pfam:Mito_carr 1 80 7.4e-17 PFAM
Pfam:Mito_carr 83 181 1.1e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143313
Predicted Effect probably benign
Transcript: ENSMUST00000141695
SMART Domains Protein: ENSMUSP00000121511
Gene: ENSMUSG00000040746

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136383
SMART Domains Protein: ENSMUSP00000120900
Gene: ENSMUSG00000014606

DomainStartEndE-ValueType
Pfam:Mito_carr 1 75 9.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152160
SMART Domains Protein: ENSMUSP00000115057
Gene: ENSMUSG00000040746

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A C 8: 100,148,324 (GRCm39) noncoding transcript Het
Actmap T G 7: 26,896,545 (GRCm39) probably null Het
Adgrv1 T C 13: 81,647,177 (GRCm39) N3121S possibly damaging Het
Aldh16a1 C T 7: 44,791,399 (GRCm39) R102Q possibly damaging Het
Atp9b A T 18: 80,879,637 (GRCm39) I346K possibly damaging Het
Baiap2l1 T C 5: 144,215,341 (GRCm39) K388R probably benign Het
Cfap65 A C 1: 74,966,778 (GRCm39) I303S probably damaging Het
Chd5 C T 4: 152,461,142 (GRCm39) P1244L probably damaging Het
Col12a1 A G 9: 79,600,712 (GRCm39) S791P possibly damaging Het
Ctsz T A 2: 174,270,490 (GRCm39) I231F probably damaging Het
Dnah8 A G 17: 30,965,960 (GRCm39) T2431A probably damaging Het
Eif4b T C 15: 102,001,466 (GRCm39) probably benign Het
Epha4 T C 1: 77,483,809 (GRCm39) I67V possibly damaging Het
Exoc1 T A 5: 76,683,440 (GRCm39) V55D probably damaging Het
Exosc8 A T 3: 54,640,143 (GRCm39) D72E possibly damaging Het
F5 C T 1: 164,021,721 (GRCm39) P1399S possibly damaging Het
Fmo1 T A 1: 162,677,720 (GRCm39) N132I possibly damaging Het
Fndc1 T A 17: 7,991,479 (GRCm39) H739L unknown Het
Glb1l2 T C 9: 26,676,976 (GRCm39) D415G probably benign Het
Gphn T A 12: 78,673,893 (GRCm39) H498Q probably damaging Het
Lrrc56 A G 7: 140,787,153 (GRCm39) N342S probably benign Het
Mbnl3 G A X: 50,253,425 (GRCm39) T16I probably damaging Het
Mrps5 T G 2: 127,443,305 (GRCm39) H294Q probably damaging Het
Neu4 A G 1: 93,952,696 (GRCm39) Y355C possibly damaging Het
Obscn A T 11: 58,941,188 (GRCm39) D5105E probably damaging Het
Or4ac1-ps1 T C 2: 88,370,485 (GRCm39) noncoding transcript Het
Or4f56 C A 2: 111,703,493 (GRCm39) A236S probably damaging Het
Or4k15b A G 14: 50,272,212 (GRCm39) I216T probably benign Het
Or5p73 A G 7: 108,064,615 (GRCm39) D28G probably benign Het
Parp1 T A 1: 180,405,272 (GRCm39) probably benign Het
Plac1 A T X: 52,159,517 (GRCm39) N64K probably damaging Het
Plcd1 C A 9: 118,901,558 (GRCm39) K655N possibly damaging Het
Psme4 T C 11: 30,826,796 (GRCm39) S1772P probably damaging Het
Shcbp1 C T 8: 4,815,089 (GRCm39) V130I probably benign Het
Svep1 C T 4: 58,113,635 (GRCm39) G1004E probably damaging Het
Tars2 T C 3: 95,647,580 (GRCm39) probably null Het
Tbc1d12 C T 19: 38,905,064 (GRCm39) T593I probably damaging Het
Tcerg1l T A 7: 137,815,100 (GRCm39) E526D probably damaging Het
Tmcc3 G A 10: 94,414,942 (GRCm39) V215M possibly damaging Het
Trappc8 T C 18: 20,985,838 (GRCm39) D601G probably damaging Het
Trp53bp2 T A 1: 182,281,313 (GRCm39) N971K probably damaging Het
Ube2g2 A T 10: 77,466,711 (GRCm39) E36D probably benign Het
Uggt2 T A 14: 119,308,300 (GRCm39) R360S probably benign Het
Utp20 A G 10: 88,594,179 (GRCm39) V2182A probably benign Het
Other mutations in Slc25a11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03087:Slc25a11 APN 11 70,536,033 (GRCm39) missense probably benign 0.09
R0448:Slc25a11 UTSW 11 70,536,405 (GRCm39) missense probably benign 0.43
R1368:Slc25a11 UTSW 11 70,536,352 (GRCm39) splice site probably null
R1505:Slc25a11 UTSW 11 70,537,650 (GRCm39) missense probably benign
R1781:Slc25a11 UTSW 11 70,535,651 (GRCm39) missense probably benign 0.44
R1970:Slc25a11 UTSW 11 70,536,999 (GRCm39) missense probably benign 0.25
R2508:Slc25a11 UTSW 11 70,536,658 (GRCm39) missense possibly damaging 0.95
R4397:Slc25a11 UTSW 11 70,535,677 (GRCm39) missense probably benign 0.01
R4747:Slc25a11 UTSW 11 70,536,782 (GRCm39) missense possibly damaging 0.95
R5177:Slc25a11 UTSW 11 70,536,643 (GRCm39) missense probably damaging 1.00
R5243:Slc25a11 UTSW 11 70,536,924 (GRCm39) missense probably damaging 1.00
R5296:Slc25a11 UTSW 11 70,537,011 (GRCm39) missense probably damaging 0.97
R5510:Slc25a11 UTSW 11 70,536,361 (GRCm39) missense probably damaging 1.00
R5662:Slc25a11 UTSW 11 70,536,245 (GRCm39) nonsense probably null
R5771:Slc25a11 UTSW 11 70,537,016 (GRCm39) missense probably damaging 0.97
R7287:Slc25a11 UTSW 11 70,536,181 (GRCm39) missense probably benign
R7799:Slc25a11 UTSW 11 70,536,005 (GRCm39) missense probably benign
R7860:Slc25a11 UTSW 11 70,536,005 (GRCm39) missense probably benign
R8694:Slc25a11 UTSW 11 70,535,630 (GRCm39) missense probably benign 0.04
Z1177:Slc25a11 UTSW 11 70,535,671 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02