Incidental Mutation 'IGL02207:Tbc1d12'
ID 284530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d12
Ensembl Gene ENSMUSG00000048720
Gene Name TBC1D12: TBC1 domain family, member 12
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.619) question?
Stock # IGL02207
Quality Score
Status
Chromosome 19
Chromosomal Location 38825035-38908103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38905091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 602 (D602V)
Ref Sequence ENSEMBL: ENSMUSP00000037884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037302]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000037302
AA Change: D602V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037884
Gene: ENSMUSG00000048720
AA Change: D602V

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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,992,993 (GRCm39) E702G probably damaging Het
Adgre5 T C 8: 84,454,913 (GRCm39) T260A probably damaging Het
Agap3 A T 5: 24,704,934 (GRCm39) T660S probably benign Het
Amotl2 A T 9: 102,601,896 (GRCm39) E380V probably damaging Het
Ap4e1 A G 2: 126,853,736 (GRCm39) E58G probably damaging Het
Arap3 G A 18: 38,120,906 (GRCm39) A713V probably benign Het
B4galt2 T C 4: 117,738,718 (GRCm39) D33G probably damaging Het
Bbs7 A T 3: 36,658,639 (GRCm39) S212T probably benign Het
Ccl26 A G 5: 135,592,224 (GRCm39) Y38H probably benign Het
Ccne2 A T 4: 11,202,261 (GRCm39) S339C probably benign Het
Cd55 A G 1: 130,380,156 (GRCm39) V274A possibly damaging Het
Cenpw T G 10: 30,074,577 (GRCm39) probably null Het
Cert1 T C 13: 96,761,300 (GRCm39) probably null Het
Chrnb4 T C 9: 54,942,500 (GRCm39) D258G probably damaging Het
Commd3 T C 2: 18,678,819 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2b23 C A 7: 26,381,180 (GRCm39) R59L probably damaging Het
Edar G T 10: 58,446,343 (GRCm39) T194K probably damaging Het
Edem3 A G 1: 151,684,111 (GRCm39) I733V possibly damaging Het
Elmod2 T C 8: 84,048,135 (GRCm39) Y109C probably benign Het
Eps15 C T 4: 109,161,945 (GRCm39) probably benign Het
Fat4 T C 3: 39,005,412 (GRCm39) V1937A probably benign Het
Fdx2 T A 9: 20,979,415 (GRCm39) probably null Het
Flg2 A T 3: 93,127,435 (GRCm39) I2116F unknown Het
Gm15091 A G X: 148,760,462 (GRCm39) D424G possibly damaging Het
Gm16380 T A 9: 53,791,823 (GRCm39) noncoding transcript Het
Gpn2 G A 4: 133,311,947 (GRCm39) V60M possibly damaging Het
Grip1 G A 10: 119,911,214 (GRCm39) R1044K probably damaging Het
H2-D1 T A 17: 35,482,390 (GRCm39) S37T possibly damaging Het
Havcr1 C T 11: 46,669,403 (GRCm39) A294V probably benign Het
Herc4 G A 10: 63,135,023 (GRCm39) probably null Het
Ift140 A G 17: 25,274,572 (GRCm39) Y748C probably benign Het
Il20ra A G 10: 19,627,326 (GRCm39) T242A probably damaging Het
Ilvbl G A 10: 78,419,536 (GRCm39) probably null Het
Kif18a A T 2: 109,127,052 (GRCm39) I329L probably damaging Het
Kmt2a T A 9: 44,758,979 (GRCm39) I957F probably damaging Het
Krt1 A G 15: 101,757,051 (GRCm39) I282T possibly damaging Het
Lamb1 T G 12: 31,379,434 (GRCm39) V1768G probably damaging Het
Nek9 A T 12: 85,350,257 (GRCm39) L939* probably null Het
Nfe2l2 A G 2: 75,508,869 (GRCm39) L122P probably damaging Het
Nin T C 12: 70,103,431 (GRCm39) M270V probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Nrde2 T C 12: 100,097,190 (GRCm39) Y870C probably benign Het
Nsmce2 A G 15: 59,287,927 (GRCm39) M71V probably benign Het
Ocstamp T C 2: 165,239,583 (GRCm39) H201R possibly damaging Het
Oog4 T C 4: 143,165,510 (GRCm39) I212M probably benign Het
Or11g2 G A 14: 50,856,015 (GRCm39) G112D probably damaging Het
Or12e7 A G 2: 87,287,794 (GRCm39) D95G probably benign Het
Osmr T C 15: 6,876,628 (GRCm39) T99A probably benign Het
Pdia4 A T 6: 47,773,741 (GRCm39) M536K probably benign Het
Pdyn A T 2: 129,530,438 (GRCm39) L77H probably damaging Het
Pikfyve T C 1: 65,290,837 (GRCm39) probably null Het
Plcb1 A G 2: 135,229,091 (GRCm39) E1105G probably damaging Het
Rb1 A T 14: 73,443,525 (GRCm39) D743E probably damaging Het
Rdh14 G A 12: 10,444,712 (GRCm39) V188I possibly damaging Het
Scd3 T C 19: 44,204,028 (GRCm39) V72A possibly damaging Het
Shld1 A T 2: 132,533,866 (GRCm39) probably benign Het
Slc25a27 G A 17: 43,972,575 (GRCm39) R104W probably damaging Het
Slc29a4 A G 5: 142,704,640 (GRCm39) D394G possibly damaging Het
Slco1a8 A T 6: 141,936,158 (GRCm39) I309N possibly damaging Het
Snx29 T G 16: 11,556,216 (GRCm39) M407R probably damaging Het
Syf2 A G 4: 134,662,363 (GRCm39) probably null Het
Syn1 T C X: 20,731,376 (GRCm39) Q321R probably benign Het
Tenm4 A T 7: 96,523,323 (GRCm39) I1585F possibly damaging Het
Tgfbr1 A G 4: 47,410,785 (GRCm39) probably benign Het
Trav6-2 G A 14: 52,904,889 (GRCm39) V8M possibly damaging Het
Unc119b A G 5: 115,272,813 (GRCm39) S53P probably benign Het
Vmp1 T A 11: 86,498,019 (GRCm39) I299F possibly damaging Het
Xpot T C 10: 121,449,485 (GRCm39) Y194C probably damaging Het
Zbtb10 T A 3: 9,345,525 (GRCm39) probably null Het
Other mutations in Tbc1d12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Tbc1d12 APN 19 38,884,487 (GRCm39) missense possibly damaging 0.83
IGL01583:Tbc1d12 APN 19 38,871,176 (GRCm39) missense probably benign 0.12
IGL01667:Tbc1d12 APN 19 38,902,744 (GRCm39) splice site probably benign
IGL03348:Tbc1d12 APN 19 38,905,064 (GRCm39) missense probably damaging 1.00
R0844:Tbc1d12 UTSW 19 38,825,515 (GRCm39) missense probably benign 0.02
R0919:Tbc1d12 UTSW 19 38,902,493 (GRCm39) missense possibly damaging 0.49
R1440:Tbc1d12 UTSW 19 38,902,796 (GRCm39) missense possibly damaging 0.53
R1845:Tbc1d12 UTSW 19 38,899,529 (GRCm39) missense probably damaging 0.99
R2374:Tbc1d12 UTSW 19 38,825,614 (GRCm39) missense possibly damaging 0.87
R3499:Tbc1d12 UTSW 19 38,884,478 (GRCm39) missense possibly damaging 0.92
R4704:Tbc1d12 UTSW 19 38,889,781 (GRCm39) missense probably damaging 1.00
R4965:Tbc1d12 UTSW 19 38,854,169 (GRCm39) nonsense probably null
R5089:Tbc1d12 UTSW 19 38,905,232 (GRCm39) nonsense probably null
R5781:Tbc1d12 UTSW 19 38,871,127 (GRCm39) missense probably benign 0.00
R7237:Tbc1d12 UTSW 19 38,887,346 (GRCm39) missense probably benign 0.10
R7978:Tbc1d12 UTSW 19 38,905,285 (GRCm39) missense probably benign 0.01
R8283:Tbc1d12 UTSW 19 38,825,353 (GRCm39) missense probably benign 0.43
R8304:Tbc1d12 UTSW 19 38,825,824 (GRCm39) missense possibly damaging 0.52
R8376:Tbc1d12 UTSW 19 38,889,853 (GRCm39) missense probably damaging 1.00
R8931:Tbc1d12 UTSW 19 38,854,098 (GRCm39) missense probably benign
R8944:Tbc1d12 UTSW 19 38,899,510 (GRCm39) missense probably damaging 0.98
R9206:Tbc1d12 UTSW 19 38,825,442 (GRCm39) missense probably benign 0.08
R9252:Tbc1d12 UTSW 19 38,899,477 (GRCm39) missense probably benign 0.42
R9258:Tbc1d12 UTSW 19 38,889,823 (GRCm39) missense possibly damaging 0.95
R9430:Tbc1d12 UTSW 19 38,884,490 (GRCm39) missense probably damaging 1.00
R9434:Tbc1d12 UTSW 19 38,902,461 (GRCm39) missense probably benign 0.05
RF010:Tbc1d12 UTSW 19 38,825,384 (GRCm39) small deletion probably benign
RF011:Tbc1d12 UTSW 19 38,825,401 (GRCm39) small deletion probably benign
RF039:Tbc1d12 UTSW 19 38,825,401 (GRCm39) small deletion probably benign
Posted On 2015-04-16