Incidental Mutation 'R0576:Tbc1d31'
ID 56241
Institutional Source Beutler Lab
Gene Symbol Tbc1d31
Ensembl Gene ENSMUSG00000022364
Gene Name TBC1 domain family, member 31
Synonyms Wdr67, LOC210544, D330013L20Rik
MMRRC Submission 038766-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0576 (G1)
Quality Score 196
Status Validated
Chromosome 15
Chromosomal Location 57775595-57833463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57833120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 953 (I953N)
Ref Sequence ENSEMBL: ENSMUSP00000022992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022992]
AlphaFold Q6NXY1
Predicted Effect possibly damaging
Transcript: ENSMUST00000022992
AA Change: I953N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: I953N

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 unknown
Transcript: ENSMUST00000161329
AA Change: I190N
SMART Domains Protein: ENSMUSP00000124466
Gene: ENSMUSG00000022364
AA Change: I190N

DomainStartEndE-ValueType
coiled coil region 97 124 N/A INTRINSIC
low complexity region 131 144 N/A INTRINSIC
low complexity region 212 223 N/A INTRINSIC
Meta Mutation Damage Score 0.0768 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 94.9%
Validation Efficiency 92% (47/51)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc77 T A 6: 120,308,809 (GRCm39) L335F probably benign Het
Ccr3 T A 9: 123,829,046 (GRCm39) F127Y probably damaging Het
Cfap43 T C 19: 47,785,579 (GRCm39) N437S probably benign Het
Cfh A G 1: 140,064,553 (GRCm39) V365A probably damaging Het
Copg1 T A 6: 87,874,945 (GRCm39) V380D probably damaging Het
Cxxc1 T C 18: 74,353,256 (GRCm39) I497T possibly damaging Het
Disp3 G A 4: 148,326,047 (GRCm39) T1237I possibly damaging Het
Dnaaf9 A T 2: 130,555,390 (GRCm39) F839L probably benign Het
Dnah7a A T 1: 53,675,246 (GRCm39) F360L probably benign Het
Dnhd1 C T 7: 105,363,252 (GRCm39) A3938V probably damaging Het
Eif4g1 A G 16: 20,502,818 (GRCm39) D1000G probably damaging Het
Emsy A T 7: 98,242,983 (GRCm39) V1052D probably damaging Het
Ep400 A G 5: 110,858,959 (GRCm39) probably benign Het
Fa2h T C 8: 112,082,779 (GRCm39) H146R probably damaging Het
Gad1 G A 2: 70,424,996 (GRCm39) C430Y probably benign Het
Gtse1 T C 15: 85,753,252 (GRCm39) S456P probably damaging Het
Gucy2g T C 19: 55,187,202 (GRCm39) T1073A probably damaging Het
Hectd2 T G 19: 36,562,897 (GRCm39) N3K probably benign Het
Hmcn1 A T 1: 150,525,768 (GRCm39) C3318* probably null Het
Lipo2 C T 19: 33,726,824 (GRCm39) S71N probably benign Het
Mynn G T 3: 30,661,217 (GRCm39) D100Y probably damaging Het
Myo16 G A 8: 10,612,318 (GRCm39) probably null Het
Npr2 G T 4: 43,640,947 (GRCm39) K384N probably benign Het
Nrde2 A G 12: 100,098,492 (GRCm39) V725A possibly damaging Het
Or11h23 T A 14: 50,948,661 (GRCm39) S291R probably damaging Het
Or2l13 A G 16: 19,305,938 (GRCm39) M117V probably damaging Het
Otud7a C T 7: 63,335,266 (GRCm39) P101S possibly damaging Het
Pcdhb7 T A 18: 37,475,410 (GRCm39) L182Q probably benign Het
Pdss1 A G 2: 22,805,425 (GRCm39) probably null Het
Ppargc1b T A 18: 61,444,512 (GRCm39) H233L probably damaging Het
Ppm1b A G 17: 85,320,987 (GRCm39) probably null Het
Prdm14 A T 1: 13,195,949 (GRCm39) S37R possibly damaging Het
Prss45 A G 9: 110,667,497 (GRCm39) T39A probably benign Het
Qars1 T C 9: 108,392,161 (GRCm39) probably benign Het
Rxfp2 T G 5: 149,961,712 (GRCm39) H77Q probably benign Het
Scd4 A G 19: 44,329,685 (GRCm39) M219V probably benign Het
Sec24b G T 3: 129,834,985 (GRCm39) P71Q probably benign Het
Snd1 T G 6: 28,886,576 (GRCm39) V861G probably benign Het
Sspo A G 6: 48,441,876 (GRCm39) probably null Het
Tas2r129 A G 6: 132,928,497 (GRCm39) T145A probably benign Het
Tlr4 A G 4: 66,757,732 (GRCm39) N175S probably benign Het
Tspyl4 A G 10: 34,174,518 (GRCm39) N337D probably damaging Het
Ttn A T 2: 76,642,545 (GRCm39) L13330H probably damaging Het
Usp33 T A 3: 152,089,756 (GRCm39) Y765* probably null Het
Vmn2r59 T A 7: 41,696,529 (GRCm39) Y71F probably benign Het
Zbed6 A G 1: 133,585,576 (GRCm39) F587S probably benign Het
Zfhx4 T C 3: 5,467,161 (GRCm39) S2465P probably 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
IGL02501:Tbc1d31 APN 15 57,801,344 (GRCm39) missense probably benign 0.11
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
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
Predicted Primers PCR Primer
(F):5'- AAACTCCAGCAGCCTGCTACTTTAG -3'
(R):5'- AGATTCCAGAAGCCCTTTACAAGCC -3'

Sequencing Primer
(F):5'- ACGCTACAATGGTCCTGTATTTG -3'
(R):5'- GAAGCCCTTTACAAGCCAAAGC -3'
Posted On 2013-07-11