Incidental Mutation 'IGL00594:Tbc1d12'
ID5668
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d12
Ensembl Gene ENSMUSG00000048720
Gene NameTBC1D12: TBC1 domain family, member 12
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.384) question?
Stock #IGL00594
Quality Score
Status
Chromosome19
Chromosomal Location38836579-38919923 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 38896043 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 346 (E346G)
Ref Sequence ENSEMBL: ENSMUSP00000037884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037302]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037302
AA Change: E346G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037884
Gene: ENSMUSG00000048720
AA Change: E346G

DomainStartEndE-ValueType
low complexity region 39 58 N/A INTRINSIC
low complexity region 67 95 N/A INTRINSIC
low complexity region 110 123 N/A INTRINSIC
low complexity region 161 177 N/A INTRINSIC
low complexity region 211 224 N/A INTRINSIC
low complexity region 227 242 N/A INTRINSIC
Blast:TBC 321 371 7e-14 BLAST
TBC 404 638 1.05e-54 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 193,174,801 T154A probably benign Het
Acox1 A G 11: 116,174,505 probably benign Het
Adgrg2 G A X: 160,485,777 V677I probably benign Het
Aifm1 T C X: 48,482,099 T386A probably benign Het
Aspm T C 1: 139,487,422 probably benign Het
Fgfr2 A G 7: 130,228,723 V175A probably damaging Het
Gm14781 C T X: 91,635,485 Q348* probably null Het
Gm382 T C X: 127,063,152 Y987H probably benign Het
Golga3 A T 5: 110,204,975 M911L probably benign Het
Hmgxb3 A G 18: 61,157,739 V354A probably benign Het
Ifne T C 4: 88,879,804 N126D probably benign Het
Igkv3-7 T C 6: 70,607,823 V49A possibly damaging Het
Kbtbd8 A T 6: 95,126,513 Y381F probably damaging Het
Klc1 C T 12: 111,776,884 T215M probably damaging Het
Lrp2 A T 2: 69,486,280 V2119E probably benign Het
Lrrc7 A G 3: 158,187,010 V322A probably benign Het
Ms4a14 A G 19: 11,301,619 S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 Y168C probably damaging Het
Plcg2 C T 8: 117,556,071 T97I possibly damaging Het
Rasgrp4 T C 7: 29,148,541 probably benign Het
Rgs22 T C 15: 36,083,631 H515R probably benign Het
Rpn1 G T 6: 88,095,629 R318L probably damaging Het
Shroom2 A T X: 152,613,516 F1359Y probably damaging Het
Tarsl2 T A 7: 65,676,132 probably null Het
Tbccd1 A G 16: 22,822,544 F361S possibly damaging Het
Tenm1 G T X: 42,715,036 P837T probably benign Het
Tmem144 A G 3: 79,839,167 V27A probably benign Het
Zfp616 T A 11: 74,082,963 N19K possibly damaging Het
Zkscan7 T C 9: 122,895,594 Y543H possibly damaging Het
Other mutations in Tbc1d12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Tbc1d12 APN 19 38882732 missense probably benign 0.12
IGL01667:Tbc1d12 APN 19 38914300 splice site probably benign
IGL02207:Tbc1d12 APN 19 38916647 missense probably damaging 1.00
IGL03348:Tbc1d12 APN 19 38916620 missense probably damaging 1.00
R0844:Tbc1d12 UTSW 19 38837071 missense probably benign 0.02
R0919:Tbc1d12 UTSW 19 38914049 missense possibly damaging 0.49
R1440:Tbc1d12 UTSW 19 38914352 missense possibly damaging 0.53
R1845:Tbc1d12 UTSW 19 38911085 missense probably damaging 0.99
R2374:Tbc1d12 UTSW 19 38837170 missense possibly damaging 0.87
R3499:Tbc1d12 UTSW 19 38896034 missense possibly damaging 0.92
R4704:Tbc1d12 UTSW 19 38901337 missense probably damaging 1.00
R4965:Tbc1d12 UTSW 19 38865725 nonsense probably null
R5089:Tbc1d12 UTSW 19 38916788 nonsense probably null
R5781:Tbc1d12 UTSW 19 38882683 missense probably benign 0.00
R7237:Tbc1d12 UTSW 19 38898902 missense probably benign 0.10
Posted On2012-04-20