Incidental Mutation 'R1860:Tbc1d32'
ID 203817
Institutional Source Beutler Lab
Gene Symbol Tbc1d32
Ensembl Gene ENSMUSG00000038122
Gene Name TBC1 domain family, member 32
Synonyms D630037F22Rik, C6orf170, Bromi, b2b2284Clo
MMRRC Submission 039883-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.925) question?
Stock # R1860 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 56014293-56228689 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 56123537 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 846 (Y846*)
Ref Sequence ENSEMBL: ENSMUSP00000097328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099739]
AlphaFold Q3URV1
Predicted Effect probably null
Transcript: ENSMUST00000099739
AA Change: Y846*
SMART Domains Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: Y846*

DomainStartEndE-ValueType
Pfam:BROMI 12 1293 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219385
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trap allele or ENU induced mutation exhibit exencephaly and poor eye development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,736,232 (GRCm38) C587R probably damaging Het
Abca16 T A 7: 120,534,763 (GRCm38) S1320T probably benign Het
Abra C A 15: 41,869,034 (GRCm38) R212L probably damaging Het
Acadsb T A 7: 131,444,229 (GRCm38) probably null Het
Adam26a A G 8: 43,569,541 (GRCm38) V304A possibly damaging Het
Adgre1 T C 17: 57,441,363 (GRCm38) V521A probably benign Het
Adh5 G A 3: 138,453,778 (GRCm38) V288I probably benign Het
Astn1 A C 1: 158,601,945 (GRCm38) N753T probably damaging Het
Atad2 A T 15: 58,096,718 (GRCm38) probably null Het
Best3 A G 10: 116,993,273 (GRCm38) T153A probably damaging Het
Ccdc122 G A 14: 77,111,407 (GRCm38) V226I probably damaging Het
Ccdc175 T C 12: 72,105,926 (GRCm38) Q735R probably benign Het
Cd19 T A 7: 126,409,641 (GRCm38) I499F probably damaging Het
Cftr T A 6: 18,268,289 (GRCm38) L749H probably benign Het
Clec2h G T 6: 128,675,827 (GRCm38) G186W probably damaging Het
Cpsf3 T A 12: 21,296,732 (GRCm38) I202N probably damaging Het
Crebbp G T 16: 4,087,736 (GRCm38) T1669N possibly damaging Het
Csmd3 A T 15: 47,659,192 (GRCm38) C2694S probably damaging Het
Cul4a G A 8: 13,123,565 (GRCm38) R204Q probably damaging Het
D230025D16Rik A G 8: 105,240,071 (GRCm38) E150G probably null Het
Derl2 A G 11: 71,018,343 (GRCm38) F43S probably damaging Het
Dnah14 T A 1: 181,763,960 (GRCm38) N3348K probably damaging Het
Dnhd1 T C 7: 105,704,205 (GRCm38) V2855A probably benign Het
Dpysl4 G T 7: 139,090,299 (GRCm38) C27F probably benign Het
Fam228b G A 12: 4,748,314 (GRCm38) A163V probably damaging Het
Fscn1 T C 5: 142,970,063 (GRCm38) probably null Het
Fzd5 C A 1: 64,734,994 (GRCm38) R536L probably damaging Het
Gm8180 T A 14: 43,783,739 (GRCm38) H4L probably benign Het
Gpr176 T A 2: 118,373,178 (GRCm38) N4Y probably damaging Het
Grin3a T C 4: 49,665,309 (GRCm38) I1109V possibly damaging Het
H2afy A G 13: 56,083,204 (GRCm38) L287P probably damaging Het
Hcar1 T A 5: 123,879,029 (GRCm38) I200F probably damaging Het
Heatr4 G A 12: 83,979,728 (GRCm38) Q252* probably null Het
Hps1 G A 19: 42,762,449 (GRCm38) H371Y probably damaging Het
Ikzf2 T C 1: 69,570,502 (GRCm38) T195A probably damaging Het
Kdm1b G A 13: 47,049,190 (GRCm38) A34T probably benign Het
Lef1 A G 3: 131,111,641 (GRCm38) N57S probably damaging Het
Ltn1 A T 16: 87,416,343 (GRCm38) D443E probably benign Het
Mamdc2 T C 19: 23,359,153 (GRCm38) T331A probably damaging Het
March10 A T 11: 105,397,078 (GRCm38) S133T probably damaging Het
Mb A G 15: 77,017,584 (GRCm38) Y104H probably damaging Het
Mrc1 C A 2: 14,328,579 (GRCm38) P1357Q probably benign Het
Nfib C T 4: 82,323,680 (GRCm38) V425M probably damaging Het
Olfr1197 T G 2: 88,729,330 (GRCm38) I90L probably damaging Het
Olfr1262 G A 2: 90,003,146 (GRCm38) V247I probably benign Het
Olfr1272 C A 2: 90,282,158 (GRCm38) C139F probably damaging Het
Olfr1467 T A 19: 13,365,341 (GRCm38) S238T possibly damaging Het
Olfr473 A G 7: 107,934,390 (GRCm38) Y290C probably damaging Het
Olfr527 G A 7: 140,336,219 (GRCm38) R119H possibly damaging Het
Olfr654 T C 7: 104,587,905 (GRCm38) S34P probably damaging Het
Olfr732 A T 14: 50,281,391 (GRCm38) Y287* probably null Het
Olfr784 T C 10: 129,388,086 (GRCm38) F151S probably damaging Het
Olfr916 A T 9: 38,658,365 (GRCm38) V9E probably damaging Het
Piezo1 T C 8: 122,495,750 (GRCm38) N919S possibly damaging Het
Prkaca T C 8: 83,981,223 (GRCm38) S46P probably benign Het
Prkcb T G 7: 122,568,201 (GRCm38) V378G probably damaging Het
Ptprf A T 4: 118,223,932 (GRCm38) L576Q probably damaging Het
Rapgef4 T C 2: 72,234,720 (GRCm38) V687A probably benign Het
Rsad2 C T 12: 26,450,617 (GRCm38) V224I probably damaging Het
Ryr1 A T 7: 29,009,552 (GRCm38) D4796E unknown Het
Scn1a C T 2: 66,317,982 (GRCm38) S1073N probably damaging Het
Slc26a3 A G 12: 31,465,846 (GRCm38) M582V probably benign Het
Tbk1 A T 10: 121,547,171 (GRCm38) M719K probably benign Het
Timeless A G 10: 128,246,114 (GRCm38) K536R probably benign Het
Tle6 G T 10: 81,594,329 (GRCm38) Q330K probably damaging Het
Tmem208 A G 8: 105,334,806 (GRCm38) K155E possibly damaging Het
Toe1 T C 4: 116,805,229 (GRCm38) Y273C probably damaging Het
Tppp2 A C 14: 51,920,605 (GRCm38) N169T probably benign Het
Ttll6 T A 11: 96,138,874 (GRCm38) Y204* probably null Het
Ubxn11 G A 4: 134,124,838 (GRCm38) S32N probably damaging Het
Usp8 G A 2: 126,756,040 (GRCm38) C961Y probably damaging Het
Vdac3 A T 8: 22,580,499 (GRCm38) I132K possibly damaging Het
Vmn2r124 G T 17: 18,049,497 (GRCm38) W5L probably benign Het
Vmn2r71 A T 7: 85,615,574 (GRCm38) D38V probably damaging Het
Vmn2r87 C T 10: 130,479,886 (GRCm38) V104I probably benign Het
Vmn2r97 C T 17: 18,947,386 (GRCm38) T634I probably benign Het
Vps50 T C 6: 3,520,279 (GRCm38) probably null Het
Wwc2 T C 8: 47,990,102 (GRCm38) N32S possibly damaging Het
Ythdc2 T A 18: 44,872,956 (GRCm38) I1172K possibly damaging Het
Zfp14 C T 7: 30,038,691 (GRCm38) V290M probably damaging Het
Zfp317 G A 9: 19,641,984 (GRCm38) A18T possibly damaging Het
Zfp354b A T 11: 50,923,542 (GRCm38) N185K probably benign Het
Zscan21 T A 5: 138,126,630 (GRCm38) D269E probably benign Het
Other mutations in Tbc1d32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Tbc1d32 APN 10 56,155,765 (GRCm38) missense probably damaging 1.00
IGL00535:Tbc1d32 APN 10 56,215,125 (GRCm38) splice site probably benign
IGL00835:Tbc1d32 APN 10 56,089,846 (GRCm38) splice site probably benign
IGL01013:Tbc1d32 APN 10 56,201,959 (GRCm38) splice site probably null
IGL01306:Tbc1d32 APN 10 56,180,524 (GRCm38) missense probably benign 0.14
IGL01452:Tbc1d32 APN 10 56,215,080 (GRCm38) missense possibly damaging 0.71
IGL01668:Tbc1d32 APN 10 56,123,577 (GRCm38) missense probably benign 0.37
IGL02008:Tbc1d32 APN 10 56,151,775 (GRCm38) missense possibly damaging 0.71
IGL02076:Tbc1d32 APN 10 56,088,403 (GRCm38) missense possibly damaging 0.93
IGL02348:Tbc1d32 APN 10 56,224,619 (GRCm38) missense probably benign 0.06
IGL02476:Tbc1d32 APN 10 56,198,542 (GRCm38) missense possibly damaging 0.71
IGL02750:Tbc1d32 APN 10 56,198,491 (GRCm38) missense possibly damaging 0.95
IGL02893:Tbc1d32 APN 10 56,017,703 (GRCm38) missense probably damaging 0.98
ANU23:Tbc1d32 UTSW 10 56,180,524 (GRCm38) missense probably benign 0.14
P0035:Tbc1d32 UTSW 10 56,198,439 (GRCm38) missense probably damaging 1.00
R0118:Tbc1d32 UTSW 10 56,017,605 (GRCm38) missense probably benign 0.02
R0446:Tbc1d32 UTSW 10 56,192,898 (GRCm38) missense possibly damaging 0.93
R0567:Tbc1d32 UTSW 10 56,173,963 (GRCm38) missense possibly damaging 0.71
R0615:Tbc1d32 UTSW 10 56,224,640 (GRCm38) missense probably benign 0.33
R0679:Tbc1d32 UTSW 10 56,180,576 (GRCm38) missense probably damaging 0.99
R0943:Tbc1d32 UTSW 10 56,161,147 (GRCm38) missense probably benign
R1432:Tbc1d32 UTSW 10 56,017,662 (GRCm38) missense probably damaging 0.99
R1454:Tbc1d32 UTSW 10 56,177,479 (GRCm38) splice site probably benign
R1708:Tbc1d32 UTSW 10 56,151,769 (GRCm38) missense possibly damaging 0.84
R1834:Tbc1d32 UTSW 10 56,017,604 (GRCm38) missense probably benign 0.00
R2208:Tbc1d32 UTSW 10 56,150,792 (GRCm38) critical splice donor site probably null
R3012:Tbc1d32 UTSW 10 56,173,915 (GRCm38) missense probably benign 0.08
R3736:Tbc1d32 UTSW 10 56,129,093 (GRCm38) missense probably damaging 0.99
R4184:Tbc1d32 UTSW 10 56,224,580 (GRCm38) missense probably benign 0.15
R4259:Tbc1d32 UTSW 10 56,049,771 (GRCm38) missense probably damaging 0.97
R4617:Tbc1d32 UTSW 10 56,170,904 (GRCm38) missense possibly damaging 0.92
R4700:Tbc1d32 UTSW 10 56,224,649 (GRCm38) missense probably damaging 0.98
R4794:Tbc1d32 UTSW 10 56,196,836 (GRCm38) missense possibly damaging 0.92
R4879:Tbc1d32 UTSW 10 56,049,029 (GRCm38) splice site probably null
R5031:Tbc1d32 UTSW 10 56,123,531 (GRCm38) missense probably damaging 0.98
R5036:Tbc1d32 UTSW 10 56,195,404 (GRCm38) nonsense probably null
R5276:Tbc1d32 UTSW 10 56,151,818 (GRCm38) missense probably damaging 0.99
R5358:Tbc1d32 UTSW 10 56,170,937 (GRCm38) missense possibly damaging 0.93
R5429:Tbc1d32 UTSW 10 56,027,993 (GRCm38) missense probably damaging 0.99
R5435:Tbc1d32 UTSW 10 56,040,150 (GRCm38) missense probably damaging 0.98
R5451:Tbc1d32 UTSW 10 56,195,475 (GRCm38) missense possibly damaging 0.95
R5607:Tbc1d32 UTSW 10 56,129,150 (GRCm38) missense possibly damaging 0.92
R5642:Tbc1d32 UTSW 10 56,150,877 (GRCm38) missense possibly damaging 0.82
R5732:Tbc1d32 UTSW 10 56,088,393 (GRCm38) missense probably damaging 0.99
R5795:Tbc1d32 UTSW 10 56,215,062 (GRCm38) missense possibly damaging 0.71
R5988:Tbc1d32 UTSW 10 56,088,337 (GRCm38) missense probably damaging 0.98
R6054:Tbc1d32 UTSW 10 56,162,208 (GRCm38) missense possibly damaging 0.95
R6103:Tbc1d32 UTSW 10 56,150,883 (GRCm38) missense probably damaging 0.99
R6277:Tbc1d32 UTSW 10 56,195,429 (GRCm38) missense probably benign
R6422:Tbc1d32 UTSW 10 56,028,061 (GRCm38) nonsense probably null
R6508:Tbc1d32 UTSW 10 56,224,690 (GRCm38) missense probably damaging 0.98
R6859:Tbc1d32 UTSW 10 56,180,530 (GRCm38) missense probably damaging 0.98
R6887:Tbc1d32 UTSW 10 56,151,811 (GRCm38) nonsense probably null
R7012:Tbc1d32 UTSW 10 56,224,724 (GRCm38) missense probably damaging 0.99
R7253:Tbc1d32 UTSW 10 56,198,441 (GRCm38) missense probably benign
R7288:Tbc1d32 UTSW 10 56,051,387 (GRCm38) critical splice donor site probably null
R7599:Tbc1d32 UTSW 10 56,151,833 (GRCm38) missense possibly damaging 0.92
R8338:Tbc1d32 UTSW 10 56,028,077 (GRCm38) missense possibly damaging 0.85
R8814:Tbc1d32 UTSW 10 56,196,592 (GRCm38) missense possibly damaging 0.93
R8864:Tbc1d32 UTSW 10 56,087,559 (GRCm38) missense probably benign 0.01
R9018:Tbc1d32 UTSW 10 56,072,597 (GRCm38) missense probably benign 0.02
R9030:Tbc1d32 UTSW 10 56,161,145 (GRCm38) missense possibly damaging 0.92
R9530:Tbc1d32 UTSW 10 56,196,411 (GRCm38) missense probably damaging 0.98
R9616:Tbc1d32 UTSW 10 56,161,150 (GRCm38) missense possibly damaging 0.85
Z1188:Tbc1d32 UTSW 10 56,170,881 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAACCCACCTTAGCACTTTCTAGG -3'
(R):5'- CCAGGGTGAATCCACGTTTTG -3'

Sequencing Primer
(F):5'- ATGAGGACTTGAGCCTCATCC -3'
(R):5'- CACGTTTTGGAGTCAGAAATTTAAG -3'
Posted On 2014-06-23