Incidental Mutation 'R0919:Tbc1d12'
ID82803
Institutional Source Beutler Lab
Gene Symbol Tbc1d12
Ensembl Gene ENSMUSG00000048720
Gene NameTBC1D12: TBC1 domain family, member 12
Synonyms
MMRRC Submission 039069-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.513) question?
Stock #R0919 (G1)
Quality Score225
Status Validated
Chromosome19
Chromosomal Location38836579-38919923 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 38914049 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 551 (H551Y)
Ref Sequence ENSEMBL: ENSMUSP00000037884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037302]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037302
AA Change: H551Y

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037884
Gene: ENSMUSG00000048720
AA Change: H551Y

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
Meta Mutation Damage Score 0.276 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610301B20Rik A G 4: 10,882,462 T124A probably benign Het
Alpk2 C A 18: 65,307,473 C283F probably benign Het
Anapc1 T C 2: 128,617,731 R1803G probably benign Het
Anapc4 T C 5: 52,855,637 V423A probably benign Het
Arfgef3 A G 10: 18,589,735 I2120T possibly damaging Het
Btaf1 T A 19: 36,990,743 H1109Q probably benign Het
Cfap70 G A 14: 20,404,164 P851S probably benign Het
Clcf1 T A 19: 4,222,198 L103Q probably damaging Het
Col11a2 T A 17: 34,059,150 V1032E possibly damaging Het
Cyp2c38 T G 19: 39,404,669 D318A probably benign Het
Dbpht2 A G 12: 74,299,000 noncoding transcript Het
Dhx34 A C 7: 16,201,958 V893G probably damaging Het
Fsip2 T A 2: 82,985,484 C3854S possibly damaging Het
Htr1a T C 13: 105,444,836 Y195H probably damaging Het
Insr A G 8: 3,158,769 S1231P probably damaging Het
Itga10 C T 3: 96,651,738 probably benign Het
Kpna4 A T 3: 69,085,828 probably benign Het
Olfr1032 A G 2: 86,008,640 Y288C possibly damaging Het
Olfr607 A G 7: 103,460,812 I132T probably damaging Het
Olfr671 A T 7: 104,975,312 Y228* probably null Het
Osbpl7 G A 11: 97,056,101 R239H possibly damaging Het
Prkce G A 17: 86,630,160 V674I probably benign Het
Prkrip1 T C 5: 136,197,831 M52V possibly damaging Het
Sash1 A G 10: 8,730,079 M849T probably benign Het
Scaf8 T C 17: 3,197,120 L906S probably damaging Het
Sfmbt2 T C 2: 10,577,571 L676P probably benign Het
Sgsm1 C T 5: 113,258,842 V923I probably damaging Het
Slc38a3 A T 9: 107,655,959 L305Q probably damaging Het
Slc44a5 A G 3: 154,243,586 Y232C probably damaging Het
Spag17 A T 3: 100,071,943 probably benign Het
Synm T C 7: 67,735,347 I414V probably damaging Het
Timm21 G C 18: 84,949,262 L130V probably damaging Het
Trpc7 C T 13: 56,822,649 probably benign Het
Trpm7 G A 2: 126,831,238 R532C probably damaging Het
Ttn T A 2: 76,946,742 K1485* probably null Het
Txn2 T C 15: 77,927,749 D69G probably damaging Het
U2af2 C T 7: 5,069,434 probably benign Het
Ubn1 T C 16: 5,064,391 Y239H probably damaging Het
Ubtf A G 11: 102,309,777 probably benign Het
Usp49 T A 17: 47,672,451 V127D probably benign Het
Washc2 C T 6: 116,208,264 R20W probably damaging Het
Zscan10 T C 17: 23,610,007 S476P probably damaging Het
Other mutations in Tbc1d12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Tbc1d12 APN 19 38896043 missense possibly damaging 0.83
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
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
Predicted Primers PCR Primer
(F):5'- GGTACACTGAGATAGGCTCTTAGACCAA -3'
(R):5'- ccaagcctggctTCAGTCTACG -3'

Sequencing Primer
(F):5'- GGCTCTTAGACCAAATAAAAGCTG -3'
(R):5'- TTCATTCGTAAGGAAAAGTGCC -3'
Posted On2013-11-08