Incidental Mutation 'R0478:Tbc1d31'
ID 43214
Institutional Source Beutler Lab
Gene Symbol Tbc1d31
Ensembl Gene ENSMUSG00000022364
Gene Name TBC1 domain family, member 31
Synonyms Wdr67, LOC210544, D330013L20Rik
MMRRC Submission 038678-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0478 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57775595-57833463 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57795932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 175 (F175S)
Ref Sequence ENSEMBL: ENSMUSP00000022992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022992]
AlphaFold Q6NXY1
Predicted Effect probably damaging
Transcript: ENSMUST00000022992
AA Change: F175S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: F175S

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
Meta Mutation Damage Score 0.5905 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,262,014 (GRCm39) noncoding transcript Het
4930556J24Rik T G 11: 3,926,259 (GRCm39) probably benign Het
Acnat1 T G 4: 49,450,901 (GRCm39) D70A probably damaging Het
Adnp2 A G 18: 80,172,549 (GRCm39) V620A probably benign Het
Aldoart1 T A 4: 72,770,580 (GRCm39) H21L probably benign Het
Birc2 A G 9: 7,860,348 (GRCm39) V290A probably damaging Het
Bpifb3 C T 2: 153,773,400 (GRCm39) probably benign Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Clmn A G 12: 104,751,750 (GRCm39) M235T probably damaging Het
Dmbt1 A G 7: 130,642,917 (GRCm39) E245G possibly damaging Het
Epgn G T 5: 91,178,987 (GRCm39) V36L probably benign Het
Ets2 C A 16: 95,517,306 (GRCm39) P346Q probably damaging Het
Fam222b T C 11: 78,044,682 (GRCm39) L81P probably damaging Het
Fancf A C 7: 51,511,440 (GRCm39) L188R probably damaging Het
Fibin T C 2: 110,193,079 (GRCm39) D21G possibly damaging Het
Fzd6 A G 15: 38,897,429 (GRCm39) probably null Het
Gbp4 T A 5: 105,267,299 (GRCm39) Q540L probably benign Het
Greb1l T A 18: 10,509,281 (GRCm39) L531Q probably damaging Het
Il5ra A G 6: 106,715,423 (GRCm39) V137A probably benign Het
Kif26a G A 12: 112,142,223 (GRCm39) A826T probably damaging Het
Kiz T C 2: 146,784,078 (GRCm39) V537A possibly damaging Het
Klhl32 C T 4: 24,792,777 (GRCm39) G15D probably damaging Het
Kmt2d G A 15: 98,751,462 (GRCm39) probably benign Het
Lbp T C 2: 158,159,448 (GRCm39) probably benign Het
Mmp25 T C 17: 23,851,756 (GRCm39) T318A probably benign Het
Mrpl50 A G 4: 49,514,513 (GRCm39) C53R probably damaging Het
Msl3l2 G C 10: 55,991,411 (GRCm39) E45D probably damaging Het
Nfxl1 A G 5: 72,681,988 (GRCm39) probably null Het
Noc3l A G 19: 38,798,450 (GRCm39) probably null Het
Or12e7 T A 2: 87,288,370 (GRCm39) V287E probably damaging Het
Or1x6 T C 11: 50,939,539 (GRCm39) S202P probably benign Het
Pgm5 A T 19: 24,812,233 (GRCm39) S100T possibly damaging Het
Pi4ka C T 16: 17,127,175 (GRCm39) G1093S possibly damaging Het
Pitrm1 T A 13: 6,609,431 (GRCm39) S350T probably damaging Het
Ptk2b G T 14: 66,450,821 (GRCm39) N48K probably damaging Het
Septin3 T C 15: 82,175,007 (GRCm39) L172P probably damaging Het
Sirt3 A T 7: 140,458,027 (GRCm39) C41S Het
Sphkap C T 1: 83,256,432 (GRCm39) R152H probably damaging Het
St3gal1 T C 15: 66,985,579 (GRCm39) Y25C probably damaging Het
Tfdp2 T A 9: 96,172,636 (GRCm39) D43E probably benign Het
Tgm1 G A 14: 55,937,791 (GRCm39) Q773* probably null Het
Tmc3 A T 7: 83,271,360 (GRCm39) R837S possibly damaging Het
Unc13a A G 8: 72,103,792 (GRCm39) V880A possibly damaging Het
Vmn1r237 T A 17: 21,535,081 (GRCm39) V268E probably damaging Het
Zan C T 5: 137,398,788 (GRCm39) probably benign Het
Zfp760 G T 17: 21,940,995 (GRCm39) E57* 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
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
Predicted Primers PCR Primer
(F):5'- GGCGGATGACTGCATAGTCCATAAA -3'
(R):5'- CTCATTACCTGGTCACAGCAAACACTT -3'

Sequencing Primer
(F):5'- gggagtgggtgggtagg -3'
(R):5'- TTGTATAAGATGTTAGAGCCCTCAGG -3'
Posted On 2013-05-23