Incidental Mutation 'R9434:Tbc1d12'
ID 713201
Institutional Source Beutler Lab
Gene Symbol Tbc1d12
Ensembl Gene ENSMUSG00000048720
Gene Name TBC1D12: TBC1 domain family, member 12
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.619) question?
Stock # R9434 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 38825035-38908103 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38902461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 540 (K540R)
Ref Sequence ENSEMBL: ENSMUSP00000037884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037302]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037302
AA Change: K540R

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000037884
Gene: ENSMUSG00000048720
AA Change: K540R

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A G 8: 41,133,284 (GRCm39) I251V probably benign Het
Adgrv1 T C 13: 81,666,292 (GRCm39) probably benign Het
Adipoq A G 16: 22,965,697 (GRCm39) probably benign Het
Adnp C T 2: 168,026,377 (GRCm39) R306Q probably damaging Het
Akap11 A T 14: 78,747,829 (GRCm39) N1519K Het
Bach1 C G 16: 87,516,603 (GRCm39) S381R probably benign Het
Cdc14a T C 3: 116,217,092 (GRCm39) M15V probably benign Het
Cgn T C 3: 94,672,837 (GRCm39) D947G probably damaging Het
Crhr2 A T 6: 55,069,512 (GRCm39) F381I probably damaging Het
Dmxl1 G T 18: 50,010,788 (GRCm39) A982S probably damaging Het
Efcab3 T C 11: 104,899,863 (GRCm39) V4375A probably benign Het
Epha5 T C 5: 84,479,227 (GRCm39) E259G possibly damaging Het
Erbb4 T C 1: 68,081,773 (GRCm39) D1087G possibly damaging Het
Fcgr2b A T 1: 170,793,385 (GRCm39) S215T probably benign Het
Fsip2 A T 2: 82,816,702 (GRCm39) Y4145F possibly damaging Het
Fyb2 C T 4: 104,847,534 (GRCm39) T518M probably damaging Het
Galk1 C T 11: 115,903,494 (GRCm39) W4* probably null Het
Gmds C A 13: 32,284,369 (GRCm39) D248Y probably damaging Het
Herc3 T A 6: 58,853,846 (GRCm39) F631I probably benign Het
Hhla1 T C 15: 65,839,226 (GRCm39) K55E possibly damaging Het
Il17rb T C 14: 29,728,054 (GRCm39) E51G probably damaging Het
Ildr1 T A 16: 36,529,862 (GRCm39) L83Q probably damaging Het
Ints9 A G 14: 65,245,506 (GRCm39) I255V probably benign Het
Itga9 G T 9: 118,636,315 (GRCm39) D668Y probably damaging Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Klhl35 A G 7: 99,119,547 (GRCm39) Y344C probably damaging Het
Klra4 A G 6: 130,040,083 (GRCm39) V63A possibly damaging Het
Lgr4 A G 2: 109,836,907 (GRCm39) T414A probably benign Het
Lmbrd2 C T 15: 9,157,314 (GRCm39) T184M probably benign Het
Lrp1 T C 10: 127,381,689 (GRCm39) D3795G possibly damaging Het
N6amt1 T A 16: 87,159,421 (GRCm39) L109Q possibly damaging Het
Ncoa1 A G 12: 4,365,755 (GRCm39) C215R probably benign Het
Ngef G A 1: 87,408,315 (GRCm39) S584F possibly damaging Het
Notch4 T C 17: 34,801,673 (GRCm39) C1174R probably damaging Het
Opa1 T C 16: 29,404,874 (GRCm39) I24T probably benign Het
Or10v1 A C 19: 11,873,393 (GRCm39) I3L probably benign Het
Or1e1b-ps1 A T 11: 73,845,662 (GRCm39) I49F probably damaging Het
Or1o4 T C 17: 37,591,254 (GRCm39) E19G probably benign Het
Or4a15 A G 2: 89,193,692 (GRCm39) V27A probably benign Het
Pcnx2 A G 8: 126,542,512 (GRCm39) V1223A probably benign Het
Phf14 A G 6: 11,933,492 (GRCm39) K118R unknown Het
Plcd1 A T 9: 118,905,231 (GRCm39) M186K probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Sumf1 A T 6: 108,130,096 (GRCm39) C233S possibly damaging Het
Tmem150c T C 5: 100,240,643 (GRCm39) N73S probably damaging Het
Tpra1 T C 6: 88,888,774 (GRCm39) S319P probably benign Het
Ttk C A 9: 83,750,143 (GRCm39) Y699* probably null Het
Vmn1r196 T A 13: 22,477,790 (GRCm39) L143* probably null Het
Vmn2r84 A G 10: 130,221,745 (GRCm39) V825A possibly damaging Het
Zpld2 T G 4: 133,929,553 (GRCm39) T251P probably benign 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
IGL02207:Tbc1d12 APN 19 38,905,091 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGCTCTTAGACCAAATAAAAGCTGG -3'
(R):5'- TCTGGTGTCAGATTATACGACTTG -3'

Sequencing Primer
(F):5'- GCCATTACAAGTTCATAGTAGTTGC -3'
(R):5'- GGTGTCAGATTATACGACTTGAAATG -3'
Posted On 2022-05-16