Incidental Mutation 'R3499:Tbc1d12'
ID 273729
Institutional Source Beutler Lab
Gene Symbol Tbc1d12
Ensembl Gene ENSMUSG00000048720
Gene Name TBC1D12: TBC1 domain family, member 12
Synonyms
MMRRC Submission 040662-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.468) question?
Stock # R3499 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 38836579-38919923 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38896034 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 343 (E343V)
Ref Sequence ENSEMBL: ENSMUSP00000037884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037302]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000037302
AA Change: E343V

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037884
Gene: ENSMUSG00000048720
AA Change: E343V

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 0.2210 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001C19Rik AC A 17: 47,433,423 probably benign Het
6430571L13Rik A T 9: 107,342,479 T44S probably damaging Het
9530053A07Rik T A 7: 28,154,555 I1648K probably benign Het
Cass4 C T 2: 172,432,558 P753L probably damaging Het
Ctif A T 18: 75,611,757 L92Q possibly damaging Het
Dnah11 C A 12: 117,911,023 D4036Y probably damaging Het
Dnah17 C T 11: 118,080,849 probably benign Het
Dnah6 G C 6: 73,032,633 A3725G probably benign Het
Ebag9 A G 15: 44,630,132 N117D probably benign Het
Elf4 C T X: 48,419,065 E158K probably benign Het
Ephb6 C T 6: 41,616,159 R444* probably null Het
Fndc1 C T 17: 7,753,584 M1505I possibly damaging Het
Gpr35 A G 1: 92,983,391 Y275C probably damaging Het
Hmcn1 A T 1: 150,605,102 I4441N probably damaging Het
Kif13a T C 13: 46,825,339 D195G probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Ksr2 C A 5: 117,689,575 T473K probably damaging Het
Kxd1 T C 8: 70,513,982 probably null Het
Lyplal1 A G 1: 186,088,660 S197P possibly damaging Het
Macf1 A T 4: 123,527,305 L52* probably null Het
Mrgprb5 A G 7: 48,168,913 S25P probably benign Het
Nucb1 T C 7: 45,498,876 H171R probably benign Het
Olfr1049 A G 2: 86,254,841 M284T possibly damaging Het
Olfr1098 A G 2: 86,923,029 F168L possibly damaging Het
Olfr1234 A T 2: 89,362,950 F160I probably benign Het
Olfr689 G A 7: 105,314,400 C132Y probably damaging Het
Olfr934 A G 9: 38,982,465 L193P probably damaging Het
Prkdc A T 16: 15,768,025 I2476F probably damaging Het
Ptprf A T 4: 118,224,930 I1037N probably damaging Het
Ralgapa1 T G 12: 55,695,143 probably benign Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,219,203 probably benign Het
Sla2 G A 2: 156,875,942 R137C probably damaging Het
Slc28a3 C T 13: 58,573,439 probably benign Het
Slc44a4 A G 17: 34,921,680 D283G probably benign Het
Slc6a9 A G 4: 117,856,803 I105V probably benign Het
Smgc A G 15: 91,842,003 T51A possibly damaging Het
Smyd5 T A 6: 85,438,190 L60H probably damaging Het
Spred1 A T 2: 117,175,386 M210L probably benign Het
Syne2 G A 12: 76,054,978 probably null Het
Tab3 T C X: 85,615,121 I418T probably benign Het
Tktl2 T A 8: 66,513,245 I485N probably damaging Het
Tmem181a T A 17: 6,280,619 Y51* probably null Het
Tmem229b-ps C T 10: 53,475,127 noncoding transcript Het
Trip11 A G 12: 101,893,694 I307T possibly damaging Het
Ttf1 T C 2: 29,065,487 S288P possibly damaging Het
Zfp395 G T 14: 65,391,293 R198L possibly 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
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
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
R7978:Tbc1d12 UTSW 19 38916841 missense probably benign 0.01
R8283:Tbc1d12 UTSW 19 38836909 missense probably benign 0.43
R8304:Tbc1d12 UTSW 19 38837380 missense possibly damaging 0.52
R8376:Tbc1d12 UTSW 19 38901409 missense probably damaging 1.00
R8931:Tbc1d12 UTSW 19 38865654 missense probably benign
R8944:Tbc1d12 UTSW 19 38911066 missense probably damaging 0.98
R9206:Tbc1d12 UTSW 19 38836998 missense probably benign 0.08
R9252:Tbc1d12 UTSW 19 38911033 missense probably benign 0.42
R9258:Tbc1d12 UTSW 19 38901379 missense possibly damaging 0.95
R9430:Tbc1d12 UTSW 19 38896046 missense probably damaging 1.00
R9434:Tbc1d12 UTSW 19 38914017 missense probably benign 0.05
RF010:Tbc1d12 UTSW 19 38836940 small deletion probably benign
RF011:Tbc1d12 UTSW 19 38836957 small deletion probably benign
RF039:Tbc1d12 UTSW 19 38836957 small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CTGAGTTTGTTTTGAAATGCAGAG -3'
(R):5'- TGCTAGGAATAAGGCTCACG -3'

Sequencing Primer
(F):5'- AAAGGTCTGAGCCACTGTGTC -3'
(R):5'- CAGATGGCTTCATAGTGAGACTC -3'
Posted On 2015-04-02