Incidental Mutation 'IGL00714:Tbc1d2'
ID 14381
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d2
Ensembl Gene ENSMUSG00000039813
Gene Name TBC1 domain family, member 2
Synonyms PARIS-1, LOC381605, PARIS1, A630005A06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # IGL00714
Quality Score
Status
Chromosome 4
Chromosomal Location 46604390-46650209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46649745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 97 (V97A)
Ref Sequence ENSEMBL: ENSMUSP00000103379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084621] [ENSMUST00000107750]
AlphaFold B1AVH7
Predicted Effect probably benign
Transcript: ENSMUST00000084621
AA Change: V97A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000081670
Gene: ENSMUSG00000039813
AA Change: V97A

DomainStartEndE-ValueType
PH 44 143 1.94e-11 SMART
low complexity region 147 159 N/A INTRINSIC
low complexity region 165 180 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
coiled coil region 302 333 N/A INTRINSIC
coiled coil region 362 394 N/A INTRINSIC
low complexity region 398 410 N/A INTRINSIC
Blast:TBC 454 491 3e-14 BLAST
low complexity region 526 539 N/A INTRINSIC
Blast:TBC 557 591 3e-10 BLAST
TBC 616 834 1.63e-60 SMART
coiled coil region 869 906 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107750
AA Change: V97A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000103379
Gene: ENSMUSG00000039813
AA Change: V97A

DomainStartEndE-ValueType
PH 44 143 1.94e-11 SMART
low complexity region 147 159 N/A INTRINSIC
low complexity region 165 180 N/A INTRINSIC
low complexity region 189 206 N/A INTRINSIC
low complexity region 220 231 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A C 7: 12,289,931 (GRCm39) probably benign Het
Casp8ap2 A G 4: 32,649,192 (GRCm39) Q1951R probably damaging Het
Cd22 T C 7: 30,575,572 (GRCm39) M157V probably benign Het
Csta1 A G 16: 35,945,369 (GRCm39) V48A probably damaging Het
Fxr1 T C 3: 34,101,776 (GRCm39) probably benign Het
Pcdh1 G A 18: 38,331,782 (GRCm39) T407I possibly damaging Het
Pcdha1 A T 18: 37,065,228 (GRCm39) T631S probably damaging Het
Sec23b C T 2: 144,401,145 (GRCm39) A2V probably benign Het
Ttll9 A C 2: 152,826,180 (GRCm39) E130A probably damaging Het
Zfp160 A T 17: 21,246,964 (GRCm39) T505S probably benign Het
Other mutations in Tbc1d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01748:Tbc1d2 APN 4 46,616,306 (GRCm39) missense probably damaging 0.99
IGL01863:Tbc1d2 APN 4 46,607,064 (GRCm39) missense possibly damaging 0.66
IGL02014:Tbc1d2 APN 4 46,649,778 (GRCm39) missense possibly damaging 0.83
IGL02025:Tbc1d2 APN 4 46,620,713 (GRCm39) missense probably damaging 1.00
IGL02551:Tbc1d2 APN 4 46,649,916 (GRCm39) missense probably benign
IGL02571:Tbc1d2 APN 4 46,628,370 (GRCm39) missense probably benign 0.00
IGL03149:Tbc1d2 APN 4 46,637,619 (GRCm39) missense probably benign 0.31
R0347:Tbc1d2 UTSW 4 46,620,574 (GRCm39) missense possibly damaging 0.82
R0374:Tbc1d2 UTSW 4 46,649,913 (GRCm39) missense possibly damaging 0.95
R0522:Tbc1d2 UTSW 4 46,649,806 (GRCm39) missense probably damaging 1.00
R0883:Tbc1d2 UTSW 4 46,609,003 (GRCm39) nonsense probably null
R1227:Tbc1d2 UTSW 4 46,620,629 (GRCm39) missense probably benign 0.00
R1464:Tbc1d2 UTSW 4 46,606,491 (GRCm39) missense possibly damaging 0.51
R1464:Tbc1d2 UTSW 4 46,606,491 (GRCm39) missense possibly damaging 0.51
R1658:Tbc1d2 UTSW 4 46,614,207 (GRCm39) missense probably damaging 1.00
R1959:Tbc1d2 UTSW 4 46,606,419 (GRCm39) missense probably benign 0.44
R2108:Tbc1d2 UTSW 4 46,637,652 (GRCm39) missense possibly damaging 0.62
R3864:Tbc1d2 UTSW 4 46,620,484 (GRCm39) missense probably benign 0.01
R4475:Tbc1d2 UTSW 4 46,609,080 (GRCm39) missense possibly damaging 0.92
R5112:Tbc1d2 UTSW 4 46,606,503 (GRCm39) missense probably damaging 1.00
R5127:Tbc1d2 UTSW 4 46,633,639 (GRCm39) intron probably benign
R5215:Tbc1d2 UTSW 4 46,614,006 (GRCm39) missense probably benign 0.42
R5475:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5550:Tbc1d2 UTSW 4 46,646,138 (GRCm39) missense probably benign 0.00
R5558:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5564:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5599:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5600:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5699:Tbc1d2 UTSW 4 46,616,298 (GRCm39) missense probably benign 0.31
R5866:Tbc1d2 UTSW 4 46,637,715 (GRCm39) missense possibly damaging 0.80
R5909:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5911:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R5980:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6194:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6195:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6209:Tbc1d2 UTSW 4 46,614,068 (GRCm39) missense probably damaging 1.00
R6211:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6232:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6242:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6261:Tbc1d2 UTSW 4 46,637,692 (GRCm39) missense possibly damaging 0.47
R6273:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6274:Tbc1d2 UTSW 4 46,629,912 (GRCm39) missense probably benign 0.01
R6285:Tbc1d2 UTSW 4 46,615,045 (GRCm39) missense possibly damaging 0.49
R6333:Tbc1d2 UTSW 4 46,620,736 (GRCm39) missense possibly damaging 0.64
R6369:Tbc1d2 UTSW 4 46,614,420 (GRCm39) missense probably benign 0.41
R6912:Tbc1d2 UTSW 4 46,649,712 (GRCm39) missense probably damaging 1.00
R7428:Tbc1d2 UTSW 4 46,649,965 (GRCm39) missense probably benign 0.02
R7775:Tbc1d2 UTSW 4 46,637,746 (GRCm39) splice site probably null
R7824:Tbc1d2 UTSW 4 46,637,746 (GRCm39) splice site probably null
R8069:Tbc1d2 UTSW 4 46,649,737 (GRCm39) missense possibly damaging 0.81
R8135:Tbc1d2 UTSW 4 46,609,071 (GRCm39) missense probably benign 0.31
R8203:Tbc1d2 UTSW 4 46,606,476 (GRCm39) missense probably damaging 1.00
R8271:Tbc1d2 UTSW 4 46,649,791 (GRCm39) missense possibly damaging 0.88
R8690:Tbc1d2 UTSW 4 46,615,106 (GRCm39) missense possibly damaging 0.95
R9025:Tbc1d2 UTSW 4 46,607,062 (GRCm39) missense probably damaging 1.00
R9236:Tbc1d2 UTSW 4 46,609,029 (GRCm39) missense probably benign 0.08
R9622:Tbc1d2 UTSW 4 46,609,065 (GRCm39) missense probably damaging 1.00
R9776:Tbc1d2 UTSW 4 46,650,007 (GRCm39) missense probably benign 0.00
X0023:Tbc1d2 UTSW 4 46,615,037 (GRCm39) missense probably benign 0.00
X0063:Tbc1d2 UTSW 4 46,606,492 (GRCm39) missense probably damaging 1.00
Z1177:Tbc1d2 UTSW 4 46,650,016 (GRCm39) missense probably benign
Posted On 2012-12-06