Incidental Mutation 'IGL03146:Slc25a35'
ID410908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a35
Ensembl Gene ENSMUSG00000018740
Gene Namesolute carrier family 25, member 35
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03146
Quality Score
Status
Chromosome11
Chromosomal Location68968131-68974365 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68968852 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 64 (K64E)
Ref Sequence ENSEMBL: ENSMUSP00000099666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018884] [ENSMUST00000038644] [ENSMUST00000102606]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018884
AA Change: K64E

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000018884
Gene: ENSMUSG00000018740
AA Change: K64E

DomainStartEndE-ValueType
Pfam:Mito_carr 1 90 4.5e-20 PFAM
Pfam:Mito_carr 98 193 2.2e-16 PFAM
Pfam:Mito_carr 197 295 6.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000038644
SMART Domains Protein: ENSMUSP00000038485
Gene: ENSMUSG00000032892

DomainStartEndE-ValueType
Pfam:Mog1 7 145 1.3e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102606
AA Change: K64E

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099666
Gene: ENSMUSG00000018740
AA Change: K64E

DomainStartEndE-ValueType
Pfam:Mito_carr 1 92 7.9e-17 PFAM
Pfam:Mito_carr 98 197 1.2e-16 PFAM
Pfam:Mito_carr 202 299 8.6e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156178
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A35 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik A T 6: 50,573,873 V532E probably damaging Het
Adam5 T C 8: 24,804,503 D360G probably damaging Het
Adam6a A T 12: 113,545,524 T506S probably damaging Het
Adamts15 A G 9: 30,921,567 V224A probably damaging Het
Arhgef12 G T 9: 42,974,570 D1251E possibly damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ccdc85c G A 12: 108,207,136 R387* probably null Het
Cfap57 T A 4: 118,599,019 I493F probably damaging Het
Chst9 A G 18: 15,452,978 I176T probably damaging Het
Clpx G T 9: 65,326,830 V572L probably benign Het
Csmd3 T A 15: 47,881,477 N1374I probably benign Het
Cyp2e1 T A 7: 140,770,221 M273K probably benign Het
Ehbp1l1 T C 19: 5,720,033 E414G probably benign Het
Ehd1 T C 19: 6,277,338 F122L probably damaging Het
Fcho1 A G 8: 71,717,430 probably benign Het
Fermt3 T C 19: 7,003,263 E312G possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
G3bp2 G A 5: 92,066,540 R132C probably damaging Het
Inpp4b A T 8: 81,743,781 I35F possibly damaging Het
Izumo3 T G 4: 92,145,039 I107L probably damaging Het
Lama3 C A 18: 12,527,624 Q484K possibly damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mapkbp1 T C 2: 119,998,474 probably benign Het
Mast4 T C 13: 102,737,655 N1735S probably benign Het
Olfr1186 T A 2: 88,526,144 M187K possibly damaging Het
Olfr298 T C 7: 86,489,194 D119G probably damaging Het
Oxct1 T C 15: 4,101,148 L374P probably damaging Het
Parp14 G A 16: 35,858,453 Q382* probably null Het
Pax2 A G 19: 44,833,275 probably benign Het
Prkaa1 T C 15: 5,168,641 V146A probably damaging Het
Ptprb C T 10: 116,328,127 A900V probably benign Het
Rgs6 A T 12: 83,052,538 D130V probably damaging Het
Ryr1 C A 7: 29,094,032 R1344L probably benign Het
Scgb1b12 C A 7: 32,334,544 D76E possibly damaging Het
Sel1l3 T A 5: 53,154,243 E633D probably benign Het
Slc1a7 T A 4: 107,992,992 I100N probably damaging Het
Stil C A 4: 115,024,415 Q719K probably damaging Het
Stim1 T A 7: 102,421,355 L265Q probably damaging Het
Tcrg-V3 C A 13: 19,243,167 Y73* probably null Het
Tmem191c A G 16: 17,277,382 E169G probably damaging Het
Tmem255b T C 8: 13,454,174 L101P probably damaging Het
Zfyve26 G A 12: 79,284,072 Q458* probably null Het
Other mutations in Slc25a35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03105:Slc25a35 APN 11 68968670 missense probably damaging 1.00
R0131:Slc25a35 UTSW 11 68971960 missense probably damaging 1.00
R0131:Slc25a35 UTSW 11 68971960 missense probably damaging 1.00
R0132:Slc25a35 UTSW 11 68971960 missense probably damaging 1.00
R2130:Slc25a35 UTSW 11 68968965 missense possibly damaging 0.88
R6425:Slc25a35 UTSW 11 68968765 missense possibly damaging 0.88
Posted On2016-08-02