Incidental Mutation 'R3683:Tbc1d31'
ID 269445
Institutional Source Beutler Lab
Gene Symbol Tbc1d31
Ensembl Gene ENSMUSG00000022364
Gene Name TBC1 domain family, member 31
Synonyms Wdr67, LOC210544, D330013L20Rik
MMRRC Submission 040681-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3683 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 57775595-57833463 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 57815210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022992]
AlphaFold Q6NXY1
Predicted Effect probably null
Transcript: ENSMUST00000022992
SMART Domains Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik T C X: 80,463,841 (GRCm39) D622G possibly damaging Het
Acad11 T C 9: 103,992,543 (GRCm39) I495T probably damaging Het
Acat1 C T 9: 53,498,765 (GRCm39) A307T probably damaging Het
Ahdc1 T C 4: 132,793,013 (GRCm39) L1418P possibly damaging Het
Bmp2 T A 2: 133,396,392 (GRCm39) V16D probably benign Het
Cables2 G A 2: 179,906,263 (GRCm39) R121* probably null Het
Calb2 A G 8: 110,883,620 (GRCm39) Y35H probably benign Het
Cdon A G 9: 35,400,328 (GRCm39) E1014G possibly damaging Het
Clcn7 T C 17: 25,369,567 (GRCm39) L301P possibly damaging Het
Corin T C 5: 72,488,198 (GRCm39) D610G probably damaging Het
Csrnp2 A T 15: 100,379,879 (GRCm39) S471T probably benign Het
Dnah7a C A 1: 53,483,675 (GRCm39) M3367I probably benign Het
Elp4 A T 2: 105,533,106 (GRCm39) M413K possibly damaging Het
Fat1 A G 8: 45,470,975 (GRCm39) D1593G probably benign Het
Fbxw24 G A 9: 109,437,110 (GRCm39) P259L possibly damaging Het
Ggta1 T A 2: 35,298,000 (GRCm39) T162S probably benign Het
Gldn G A 9: 54,245,624 (GRCm39) E392K possibly damaging Het
Klra9 T C 6: 130,168,260 (GRCm39) N2S probably benign Het
Lama1 A G 17: 68,075,328 (GRCm39) D1015G probably benign Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Myg1 G C 15: 102,246,171 (GRCm39) G349R probably damaging Het
Nrxn1 T C 17: 90,930,880 (GRCm39) D779G probably damaging Het
Or2d3c G A 7: 106,526,301 (GRCm39) R122* probably null Het
Or4a73 C A 2: 89,421,099 (GRCm39) R120L probably damaging Het
Or4c118 A T 2: 88,975,364 (GRCm39) M1K probably null Het
Or5d37 T A 2: 87,923,603 (GRCm39) I226F probably damaging Het
Osmr A C 15: 6,866,534 (GRCm39) V380G possibly damaging Het
Phf21b A G 15: 84,682,891 (GRCm39) I222T probably damaging Het
Ptprq G T 10: 107,544,489 (GRCm39) T347K probably benign Het
Sema6d G T 2: 124,496,146 (GRCm39) L63F possibly damaging Het
Serpinb9b C T 13: 33,213,581 (GRCm39) A46V probably damaging Het
Sf3b3 A G 8: 111,540,253 (GRCm39) probably null Het
Smpd1 T A 7: 105,204,609 (GRCm39) C163S probably damaging Het
Stat4 C T 1: 52,052,981 (GRCm39) T54I possibly damaging Het
Tacc2 A G 7: 130,226,800 (GRCm39) S1162G probably benign Het
Tbc1d20 C T 2: 152,153,737 (GRCm39) T354I probably benign Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Unc79 T A 12: 103,041,062 (GRCm39) N698K probably benign Het
Utrn A G 10: 12,542,579 (GRCm39) M1802T probably benign Het
Vmn1r8 A C 6: 57,013,260 (GRCm39) T104P probably damaging Het
Vmn2r13 C A 5: 109,304,721 (GRCm39) R570I probably damaging Het
Zfand6 G A 7: 84,283,570 (GRCm39) P11S probably damaging Het
Zfp1005 A G 2: 150,109,976 (GRCm39) K222R probably benign Het
Zmpste24 A G 4: 120,918,288 (GRCm39) F445L 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
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
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'- CTTTAGGTGTATGCCTGGCC -3'
(R):5'- TTATAACAACCTGCTTGCCAAG -3'

Sequencing Primer
(F):5'- TGGCCTCTCCTGGAAACACTG -3'
(R):5'- TGCTTGCCAAGAATCTACGC -3'
Posted On 2015-02-19