Incidental Mutation 'IGL02501:Tbc1d31'
ID 296058
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d31
Ensembl Gene ENSMUSG00000022364
Gene Name TBC1 domain family, member 31
Synonyms Wdr67, LOC210544, D330013L20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02501
Quality Score
Status
Chromosome 15
Chromosomal Location 57775595-57833463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57801344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 293 (I293T)
Ref Sequence ENSEMBL: ENSMUSP00000022992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022992]
AlphaFold Q6NXY1
Predicted Effect probably benign
Transcript: ENSMUST00000022992
AA Change: I293T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: I293T

DomainStartEndE-ValueType
WD40 39 70 3.3e1 SMART
WD40 72 112 7.64e1 SMART
WD40 115 153 1.42e-4 SMART
WD40 156 196 1.03e1 SMART
WD40 199 242 6.6e1 SMART
Blast:WD40 245 292 8e-23 BLAST
WD40 295 334 2.48e0 SMART
Pfam:RabGAP-TBC 427 619 9.5e-11 PFAM
coiled coil region 699 844 N/A INTRINSIC
low complexity region 893 906 N/A INTRINSIC
low complexity region 974 985 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162157
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,137,489 (GRCm39) I307F probably damaging Het
Adam15 G A 3: 89,247,769 (GRCm39) A789V possibly damaging Het
Bspry A G 4: 62,414,672 (GRCm39) T422A probably benign Het
Btnl6 T A 17: 34,734,648 (GRCm39) D38V possibly damaging Het
Cd59b G A 2: 103,909,273 (GRCm39) C18Y probably damaging Het
Clstn1 T G 4: 149,716,299 (GRCm39) I255R probably damaging Het
Dpp10 A G 1: 123,613,999 (GRCm39) L99P possibly damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Emc1 A T 4: 139,098,295 (GRCm39) T759S probably benign Het
Fndc1 C T 17: 7,984,230 (GRCm39) G1232E unknown Het
Gjb3 C T 4: 127,220,157 (GRCm39) G125D probably damaging Het
Helb A G 10: 119,938,693 (GRCm39) S594P possibly damaging Het
Hycc2 C A 1: 58,579,350 (GRCm39) R229L probably damaging Het
Ildr1 T C 16: 36,542,712 (GRCm39) S371P probably damaging Het
Kif1b T A 4: 149,299,433 (GRCm39) R946W probably damaging Het
Lrp12 T C 15: 39,741,300 (GRCm39) T472A probably damaging Het
Lyst A G 13: 13,886,230 (GRCm39) D3031G probably benign Het
Med12l A T 3: 59,169,397 (GRCm39) T1596S possibly damaging Het
Myom1 A C 17: 71,379,076 (GRCm39) probably null Het
Nhlrc2 T A 19: 56,559,086 (GRCm39) Y190* probably null Het
Nol4 A T 18: 22,956,398 (GRCm39) N115K probably damaging Het
Nrg1 T A 8: 32,308,291 (GRCm39) probably null Het
Or7g26 T A 9: 19,229,999 (GRCm39) H56Q probably damaging Het
Oxld1 A C 11: 120,347,714 (GRCm39) L161R probably damaging Het
Phex A G X: 155,969,271 (GRCm39) S568P probably damaging Het
Pkd1 T G 17: 24,788,673 (GRCm39) S810R probably benign Het
Plin2 G T 4: 86,582,723 (GRCm39) C84* probably null Het
Ppfia3 A T 7: 45,004,362 (GRCm39) probably benign Het
Ptpn14 A G 1: 189,582,587 (GRCm39) N478S probably benign Het
Pygl A G 12: 70,237,908 (GRCm39) M801T probably benign Het
Recql5 A G 11: 115,785,917 (GRCm39) Y619H probably benign Het
Scn3a C A 2: 65,356,899 (GRCm39) D182Y possibly damaging Het
Serpinb6e T C 13: 34,016,785 (GRCm39) E316G possibly damaging Het
Shroom4 A G X: 6,495,998 (GRCm39) E386G possibly damaging Het
Slc4a2 A G 5: 24,634,432 (GRCm39) S24G probably benign Het
Slc4a4 A G 5: 89,277,508 (GRCm39) I282V probably benign Het
Slc8b1 C T 5: 120,658,918 (GRCm39) R148C probably damaging Het
Stag2 A G X: 41,360,202 (GRCm39) probably benign Het
Styx T A 14: 45,609,922 (GRCm39) H195Q probably benign Het
Sufu A G 19: 46,439,349 (GRCm39) I190V probably benign Het
Svep1 A G 4: 58,145,341 (GRCm39) probably benign Het
Timp4 T A 6: 115,223,444 (GRCm39) I160F probably damaging Het
Tmem87a A T 2: 120,234,534 (GRCm39) V3E probably damaging Het
Utp4 T A 8: 107,632,873 (GRCm39) H285Q probably benign Het
Vrk1 T G 12: 106,028,912 (GRCm39) S305A probably benign Het
Zfp329 G T 7: 12,545,106 (GRCm39) H139Q possibly damaging Het
Other mutations in Tbc1d31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Tbc1d31 APN 15 57,804,164 (GRCm39) missense probably benign 0.03
IGL01955:Tbc1d31 APN 15 57,805,766 (GRCm39) missense probably benign 0.24
IGL02024:Tbc1d31 APN 15 57,783,338 (GRCm39) missense probably benign 0.10
IGL03133:Tbc1d31 APN 15 57,805,855 (GRCm39) splice site probably benign
IGL03159:Tbc1d31 APN 15 57,783,444 (GRCm39) critical splice donor site probably null
new_age UTSW 15 57,815,102 (GRCm39) missense probably damaging 1.00
PIT4354001:Tbc1d31 UTSW 15 57,831,329 (GRCm39) missense probably benign 0.09
R0239:Tbc1d31 UTSW 15 57,804,149 (GRCm39) missense probably benign 0.14
R0239:Tbc1d31 UTSW 15 57,804,149 (GRCm39) missense probably benign 0.14
R0375:Tbc1d31 UTSW 15 57,818,746 (GRCm39) missense probably benign
R0478:Tbc1d31 UTSW 15 57,795,932 (GRCm39) missense probably damaging 1.00
R0576:Tbc1d31 UTSW 15 57,833,120 (GRCm39) missense possibly damaging 0.79
R1328:Tbc1d31 UTSW 15 57,805,859 (GRCm39) splice site probably benign
R1454:Tbc1d31 UTSW 15 57,815,034 (GRCm39) nonsense probably null
R1784:Tbc1d31 UTSW 15 57,827,316 (GRCm39) missense possibly damaging 0.86
R1874:Tbc1d31 UTSW 15 57,779,506 (GRCm39) missense probably benign 0.41
R1920:Tbc1d31 UTSW 15 57,775,760 (GRCm39) missense probably damaging 1.00
R2111:Tbc1d31 UTSW 15 57,796,040 (GRCm39) missense probably benign 0.05
R2174:Tbc1d31 UTSW 15 57,815,137 (GRCm39) missense possibly damaging 0.95
R2205:Tbc1d31 UTSW 15 57,816,916 (GRCm39) missense probably benign 0.11
R3683:Tbc1d31 UTSW 15 57,815,210 (GRCm39) critical splice donor site probably null
R3825:Tbc1d31 UTSW 15 57,779,474 (GRCm39) missense probably benign 0.43
R4407:Tbc1d31 UTSW 15 57,783,438 (GRCm39) missense possibly damaging 0.93
R4627:Tbc1d31 UTSW 15 57,831,308 (GRCm39) missense probably benign
R4792:Tbc1d31 UTSW 15 57,804,124 (GRCm39) missense probably benign 0.03
R4804:Tbc1d31 UTSW 15 57,814,502 (GRCm39) nonsense probably null
R4909:Tbc1d31 UTSW 15 57,825,661 (GRCm39) critical splice donor site probably null
R5077:Tbc1d31 UTSW 15 57,818,797 (GRCm39) missense probably benign 0.00
R5230:Tbc1d31 UTSW 15 57,824,315 (GRCm39) missense probably damaging 0.99
R5436:Tbc1d31 UTSW 15 57,816,267 (GRCm39) missense probably benign 0.04
R5652:Tbc1d31 UTSW 15 57,815,062 (GRCm39) missense probably damaging 1.00
R5920:Tbc1d31 UTSW 15 57,805,954 (GRCm39) missense probably benign 0.10
R6102:Tbc1d31 UTSW 15 57,799,489 (GRCm39) missense probably damaging 1.00
R6176:Tbc1d31 UTSW 15 57,816,192 (GRCm39) missense probably damaging 0.99
R6513:Tbc1d31 UTSW 15 57,818,778 (GRCm39) missense probably damaging 1.00
R6778:Tbc1d31 UTSW 15 57,801,425 (GRCm39) missense probably damaging 1.00
R6795:Tbc1d31 UTSW 15 57,815,102 (GRCm39) missense probably damaging 1.00
R7187:Tbc1d31 UTSW 15 57,801,459 (GRCm39) missense possibly damaging 0.95
R7308:Tbc1d31 UTSW 15 57,816,212 (GRCm39) missense probably damaging 1.00
R7359:Tbc1d31 UTSW 15 57,779,504 (GRCm39) missense probably benign 0.00
R7453:Tbc1d31 UTSW 15 57,814,391 (GRCm39) missense probably damaging 1.00
R7552:Tbc1d31 UTSW 15 57,804,136 (GRCm39) missense probably benign
R7606:Tbc1d31 UTSW 15 57,815,066 (GRCm39) missense probably damaging 1.00
R7739:Tbc1d31 UTSW 15 57,799,494 (GRCm39) nonsense probably null
R7782:Tbc1d31 UTSW 15 57,821,764 (GRCm39) missense possibly damaging 0.89
R8165:Tbc1d31 UTSW 15 57,824,345 (GRCm39) missense possibly damaging 0.74
R9187:Tbc1d31 UTSW 15 57,779,485 (GRCm39) missense probably damaging 1.00
R9558:Tbc1d31 UTSW 15 57,795,988 (GRCm39) missense probably damaging 0.99
R9796:Tbc1d31 UTSW 15 57,833,179 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16