Incidental Mutation 'IGL01552:Slc25a36'
ID90591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a36
Ensembl Gene ENSMUSG00000032449
Gene Namesolute carrier family 25, member 36
SynonymsC330005L02Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.291) question?
Stock #IGL01552
Quality Score
Status
Chromosome9
Chromosomal Location97074961-97111157 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 97079233 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 111 (V111A)
Ref Sequence ENSEMBL: ENSMUSP00000035024 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035024] [ENSMUST00000085206] [ENSMUST00000153070]
Predicted Effect probably benign
Transcript: ENSMUST00000035024
AA Change: V111A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000035024
Gene: ENSMUSG00000032449
AA Change: V111A

DomainStartEndE-ValueType
Pfam:Mito_carr 4 69 1.1e-12 PFAM
Pfam:Mito_carr 83 172 2.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000085206
AA Change: V250A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000082302
Gene: ENSMUSG00000032449
AA Change: V250A

DomainStartEndE-ValueType
Pfam:Mito_carr 2 113 9.5e-27 PFAM
Pfam:Mito_carr 114 207 2.5e-23 PFAM
Pfam:Mito_carr 222 311 6e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148995
Predicted Effect probably benign
Transcript: ENSMUST00000153070
SMART Domains Protein: ENSMUSP00000116813
Gene: ENSMUSG00000032449

DomainStartEndE-ValueType
Pfam:Mito_carr 2 113 5.8e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155291
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik A G 3: 108,481,312 W252R possibly damaging Het
Arl8a T C 1: 135,152,868 probably null Het
Bivm A G 1: 44,126,773 N128D probably benign Het
Chil3 C A 3: 106,148,848 G330V probably damaging Het
Dscaml1 A G 9: 45,447,908 H155R probably damaging Het
Etl4 T A 2: 20,778,189 V687D probably damaging Het
Fbxw10 A T 11: 62,857,684 probably null Het
Gfpt2 G T 11: 49,805,005 E21* probably null Het
Gm10197 C T 19: 53,371,691 V26I possibly damaging Het
Gm4788 A G 1: 139,739,302 Y412H probably damaging Het
Gm6614 T C 6: 141,987,706 K451R possibly damaging Het
Golim4 T C 3: 75,956,195 E35G probably damaging Het
Igdcc4 A G 9: 65,122,502 probably benign Het
Ino80d A G 1: 63,057,977 probably benign Het
Ipo13 A G 4: 117,900,964 M734T probably benign Het
Klk1b27 C T 7: 44,054,615 L61F probably damaging Het
Lamtor5 T C 3: 107,279,008 V31A probably benign Het
Lrp1 A T 10: 127,588,510 L769* probably null Het
Nipsnap1 A T 11: 4,889,124 S135C probably damaging Het
Olfr1277 C A 2: 111,269,912 G152C probably damaging Het
Pparg A T 6: 115,490,122 H452L probably benign Het
Rab34 C T 11: 78,191,438 A202V probably damaging Het
Ryr3 T A 2: 112,825,883 T1923S possibly damaging Het
Sall4 A G 2: 168,756,123 S266P probably damaging Het
Sh2d4b T C 14: 40,860,648 Q195R probably benign Het
Sik2 C A 9: 50,917,522 probably benign Het
Sptbn5 A T 2: 120,054,422 probably benign Het
Tac2 G A 10: 127,726,101 E25K possibly damaging Het
Tnc A G 4: 63,970,408 V1807A probably damaging Het
Top3b T C 16: 16,887,823 probably benign Het
Zfp827 A G 8: 79,076,191 E464G probably damaging Het
Other mutations in Slc25a36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Slc25a36 APN 9 97080481 missense probably benign 0.00
IGL02149:Slc25a36 APN 9 97093069 splice site probably benign
R0394:Slc25a36 UTSW 9 97080204 missense probably benign 0.36
R0518:Slc25a36 UTSW 9 97097175 missense probably damaging 1.00
R1024:Slc25a36 UTSW 9 97079201 missense probably damaging 1.00
R1208:Slc25a36 UTSW 9 97085135 splice site probably benign
R1439:Slc25a36 UTSW 9 97093073 splice site probably benign
R1466:Slc25a36 UTSW 9 97080355 missense probably damaging 1.00
R1466:Slc25a36 UTSW 9 97080355 missense probably damaging 1.00
R1920:Slc25a36 UTSW 9 97093082 missense probably benign 0.00
R2247:Slc25a36 UTSW 9 97100138 missense probably damaging 1.00
R2317:Slc25a36 UTSW 9 97079182 missense probably damaging 1.00
R2518:Slc25a36 UTSW 9 97079071 missense possibly damaging 0.95
R3756:Slc25a36 UTSW 9 97100155 nonsense probably null
R4405:Slc25a36 UTSW 9 97085118 missense probably benign 0.00
R4624:Slc25a36 UTSW 9 97079125 missense probably damaging 0.99
R4719:Slc25a36 UTSW 9 97090119 utr 3 prime probably benign
R5492:Slc25a36 UTSW 9 97100206 missense probably damaging 1.00
R6152:Slc25a36 UTSW 9 97100157 missense probably damaging 1.00
R7823:Slc25a36 UTSW 9 97084391 critical splice donor site probably null
R8139:Slc25a36 UTSW 9 97080452 missense probably benign
Posted On2013-12-09