Incidental Mutation 'R7187:Tbc1d31'
ID 559383
Institutional Source Beutler Lab
Gene Symbol Tbc1d31
Ensembl Gene ENSMUSG00000022364
Gene Name TBC1 domain family, member 31
Synonyms Wdr67, LOC210544, D330013L20Rik
MMRRC Submission 045377-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7187 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 57775595-57833463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57801459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 331 (N331K)
Ref Sequence ENSEMBL: ENSMUSP00000022992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022992]
AlphaFold Q6NXY1
Predicted Effect possibly damaging
Transcript: ENSMUST00000022992
AA Change: N331K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: N331K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,327,733 (GRCm39) Y716C probably damaging Het
Abcc1 A G 16: 14,284,861 (GRCm39) I1237V probably benign Het
Adam34 C T 8: 44,105,565 (GRCm39) A27T probably benign Het
Aff3 T C 1: 38,257,478 (GRCm39) S415G probably damaging Het
Ak7 T C 12: 105,711,532 (GRCm39) Y390H probably benign Het
Arap2 A C 5: 62,826,396 (GRCm39) M1056R probably damaging Het
Brf1 T C 12: 112,923,945 (GRCm39) Y676C unknown Het
Cachd1 T A 4: 100,833,552 (GRCm39) H776Q possibly damaging Het
Cacng7 T C 7: 3,385,183 (GRCm39) V28A probably damaging Het
Camk2g A T 14: 20,792,780 (GRCm39) D359E probably benign Het
Cd209b T C 8: 3,976,638 (GRCm39) D16G probably benign Het
Ceacam5 A G 7: 17,493,410 (GRCm39) E811G possibly damaging Het
Cecr2 T A 6: 120,733,647 (GRCm39) S545T probably benign Het
Cep55 T C 19: 38,048,806 (GRCm39) probably null Het
Ctif C A 18: 75,770,290 (GRCm39) V32L probably damaging Het
Cwc27 G A 13: 104,797,900 (GRCm39) A353V probably benign Het
Dclk3 T A 9: 111,314,064 (GRCm39) S713R probably damaging Het
Dlec1 C T 9: 118,941,214 (GRCm39) H255Y probably benign Het
Dlgap1 A G 17: 70,823,093 (GRCm39) H26R possibly damaging Het
Dydc1 C T 14: 40,800,051 (GRCm39) T19I possibly damaging Het
Efcab12 G A 6: 115,800,474 (GRCm39) P183L not run Het
Eif1ad19 T C 12: 87,740,708 (GRCm39) probably benign Het
Eri3 C A 4: 117,446,343 (GRCm39) Q219K probably benign Het
Fam135a A G 1: 24,083,295 (GRCm39) L310P probably damaging Het
Fgd5 T A 6: 91,965,272 (GRCm39) S502T possibly damaging Het
Fgf8 A G 19: 45,730,106 (GRCm39) S57P probably benign Het
Gls T C 1: 52,259,139 (GRCm39) E154G probably damaging Het
Gm28042 T C 2: 119,870,176 (GRCm39) L705P probably damaging Het
Golgb1 C A 16: 36,736,512 (GRCm39) Q1961K probably benign Het
Herc3 C A 6: 58,833,616 (GRCm39) Q168K probably benign Het
Il31ra C A 13: 112,682,845 (GRCm39) C168F probably benign Het
Ino80 A T 2: 119,257,072 (GRCm39) D860E probably benign Het
Iqcm T G 8: 76,480,044 (GRCm39) L334R probably benign Het
Lrrk2 A G 15: 91,641,204 (GRCm39) D1587G possibly damaging Het
Map4 T A 9: 109,882,201 (GRCm39) V355E probably benign Het
Mapk13 T A 17: 28,995,361 (GRCm39) I194N probably damaging Het
Mtus2 A G 5: 148,013,515 (GRCm39) T103A probably benign Het
Naglu G T 11: 100,961,158 (GRCm39) G70W probably benign Het
Nlrp4f A T 13: 65,343,201 (GRCm39) M126K possibly damaging Het
Or4c120 T C 2: 89,001,714 (GRCm39) probably benign Het
Or5p61 A T 7: 107,758,585 (GRCm39) V165E probably benign Het
Pdia4 T C 6: 47,790,193 (GRCm39) T16A unknown Het
Pou6f2 G A 13: 18,414,298 (GRCm39) A159V Het
Ripor1 A G 8: 106,344,506 (GRCm39) T547A probably benign Het
Rundc3b A G 5: 8,542,506 (GRCm39) S389P probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats2 T C 15: 99,110,054 (GRCm39) S484P probably benign Het
Supv3l1 G A 10: 62,271,328 (GRCm39) T403I probably damaging Het
Tacstd2 G A 6: 67,512,180 (GRCm39) R171W probably damaging Het
Taok2 A T 7: 126,471,552 (GRCm39) F542L probably damaging Het
Tff2 A T 17: 31,361,200 (GRCm39) C118S probably damaging Het
Tmprss7 G A 16: 45,498,317 (GRCm39) T354I possibly damaging Het
Tmtc3 A T 10: 100,313,774 (GRCm39) F33I probably damaging Het
Tpbpa G A 13: 61,088,399 (GRCm39) probably benign Het
Ube3a G T 7: 58,925,653 (GRCm39) V165F probably benign Het
Vmn2r4 T G 3: 64,322,681 (GRCm39) T13P probably benign Het
Wnt8b A G 19: 44,500,121 (GRCm39) D236G probably benign Het
Ythdf3 C A 3: 16,258,451 (GRCm39) D210E probably benign Het
Zfp110 T A 7: 12,583,753 (GRCm39) Y800* probably null 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
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
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'- AAGCCCCATTGTTTCTGTCG -3'
(R):5'- GTGACACTGAATGGGTGGACAC -3'

Sequencing Primer
(F):5'- CATTGTTTCTGTCGCTTCAGG -3'
(R):5'- CACCAGGCTGAGAAGGAGCAC -3'
Posted On 2019-06-26