Mutagenetix > Incidental Mutation

Incidental Mutation 'R5036:Tbc1d32'

389541

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d32

Ensembl Gene

ENSMUSG00000038122

Gene Name

TBC1 domain family, member 32

Synonyms

D630037F22Rik, Bromi, b2b2284Clo, C6orf170

MMRRC Submission

042627-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R5036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55890389-56104785 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 56071500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 341 (Y341*)

Ref Sequence

ENSEMBL: ENSMUSP00000097328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099739]

AlphaFold

Q3URV1

Predicted Effect

probably null
Transcript: ENSMUST00000099739
AA Change: Y341*

SMART Domains

Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: Y341*

Domain	Start	End	E-Value	Type
Pfam:BROMI	12	1293	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219385

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (44/44)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,275,578 (GRCm39)	G427D	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
C4b	T	A	17: 34,959,419 (GRCm39)		probably null	Het
Cabyr	A	T	18: 12,884,303 (GRCm39)	E263D	probably damaging	Het
Car1	A	T	3: 14,841,299 (GRCm39)	D45E	possibly damaging	Het
Col25a1	T	C	3: 130,376,978 (GRCm39)		probably null	Het
Dnah6	G	T	6: 73,021,674 (GRCm39)	S3549R	probably benign	Het
Dync1h1	A	T	12: 110,596,969 (GRCm39)	I1639F	probably damaging	Het
Fhad1	A	T	4: 141,648,052 (GRCm39)	D271E	probably benign	Het
Gle1	T	C	2: 29,826,223 (GRCm39)	S101P	probably benign	Het
Gm4781	C	A	10: 100,232,851 (GRCm39)		noncoding transcript	Het
Gpatch3	A	G	4: 133,305,461 (GRCm39)	Y232C	probably damaging	Het
Gtf2ird2	A	G	5: 134,246,349 (GRCm39)	N869S	probably damaging	Het
Ifi204	G	A	1: 173,580,311 (GRCm39)	P400S	possibly damaging	Het
Ighv2-2	T	C	12: 113,552,092 (GRCm39)	T49A	possibly damaging	Het
Itsn1	T	A	16: 91,579,123 (GRCm39)		probably benign	Het
Mib2	A	T	4: 155,740,745 (GRCm39)	N626K	probably damaging	Het
Nf1	C	A	11: 79,337,690 (GRCm39)	Q1098K	probably damaging	Het
Odc1	C	A	12: 17,598,020 (GRCm39)	Q116K	probably damaging	Het
Otof	C	T	5: 30,541,783 (GRCm39)	E761K	possibly damaging	Het
Palld	A	T	8: 62,003,196 (GRCm39)	V301D	probably damaging	Het
Pask	A	T	1: 93,249,801 (GRCm39)	L533*	probably null	Het
Plekhh2	T	C	17: 84,879,189 (GRCm39)	S638P	probably damaging	Het
Scaf8	T	A	17: 3,214,537 (GRCm39)		probably benign	Het
Sdccag8	G	T	1: 176,839,541 (GRCm39)	R695L	probably damaging	Het
Serpina1c	A	G	12: 103,865,085 (GRCm39)	I187T	probably damaging	Het
Slitrk5	G	T	14: 111,918,316 (GRCm39)	G647W	possibly damaging	Het
Sycp1	T	A	3: 102,727,916 (GRCm39)	K899M	probably damaging	Het
Taok1	G	A	11: 77,440,157 (GRCm39)	R617C	probably benign	Het
Tenm4	A	G	7: 96,343,997 (GRCm39)	N267D	probably damaging	Het
Tenm4	T	C	7: 96,501,768 (GRCm39)	V1287A	probably damaging	Het
Tsga10	A	T	1: 37,823,049 (GRCm39)	V488E	possibly damaging	Het
Ttc39c	G	T	18: 12,820,138 (GRCm39)		probably null	Het
Uck1	A	T	2: 32,148,478 (GRCm39)		probably benign	Het
Vmn2r98	A	G	17: 19,286,419 (GRCm39)	I306V	probably benign	Het

Other mutations in Tbc1d32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Tbc1d32	APN	10	56,031,861 (GRCm39)	missense	probably damaging	1.00
IGL00535:Tbc1d32	APN	10	56,091,221 (GRCm39)	splice site	probably benign
IGL00835:Tbc1d32	APN	10	55,965,942 (GRCm39)	splice site	probably benign
IGL01013:Tbc1d32	APN	10	56,078,055 (GRCm39)	splice site	probably null
IGL01306:Tbc1d32	APN	10	56,056,620 (GRCm39)	missense	probably benign	0.14
IGL01452:Tbc1d32	APN	10	56,091,176 (GRCm39)	missense	possibly damaging	0.71
IGL01668:Tbc1d32	APN	10	55,999,673 (GRCm39)	missense	probably benign	0.37
IGL02008:Tbc1d32	APN	10	56,027,871 (GRCm39)	missense	possibly damaging	0.71
IGL02076:Tbc1d32	APN	10	55,964,499 (GRCm39)	missense	possibly damaging	0.93
IGL02348:Tbc1d32	APN	10	56,100,715 (GRCm39)	missense	probably benign	0.06
IGL02476:Tbc1d32	APN	10	56,074,638 (GRCm39)	missense	possibly damaging	0.71
IGL02750:Tbc1d32	APN	10	56,074,587 (GRCm39)	missense	possibly damaging	0.95
IGL02893:Tbc1d32	APN	10	55,893,799 (GRCm39)	missense	probably damaging	0.98
ANU23:Tbc1d32	UTSW	10	56,056,620 (GRCm39)	missense	probably benign	0.14
P0035:Tbc1d32	UTSW	10	56,074,535 (GRCm39)	missense	probably damaging	1.00
R0118:Tbc1d32	UTSW	10	55,893,701 (GRCm39)	missense	probably benign	0.02
R0446:Tbc1d32	UTSW	10	56,068,994 (GRCm39)	missense	possibly damaging	0.93
R0567:Tbc1d32	UTSW	10	56,050,059 (GRCm39)	missense	possibly damaging	0.71
R0615:Tbc1d32	UTSW	10	56,100,736 (GRCm39)	missense	probably benign	0.33
R0679:Tbc1d32	UTSW	10	56,056,672 (GRCm39)	missense	probably damaging	0.99
R0943:Tbc1d32	UTSW	10	56,037,243 (GRCm39)	missense	probably benign
R1432:Tbc1d32	UTSW	10	55,893,758 (GRCm39)	missense	probably damaging	0.99
R1454:Tbc1d32	UTSW	10	56,053,575 (GRCm39)	splice site	probably benign
R1708:Tbc1d32	UTSW	10	56,027,865 (GRCm39)	missense	possibly damaging	0.84
R1834:Tbc1d32	UTSW	10	55,893,700 (GRCm39)	missense	probably benign	0.00
R1860:Tbc1d32	UTSW	10	55,999,633 (GRCm39)	nonsense	probably null
R2208:Tbc1d32	UTSW	10	56,026,888 (GRCm39)	critical splice donor site	probably null
R3012:Tbc1d32	UTSW	10	56,050,011 (GRCm39)	missense	probably benign	0.08
R3736:Tbc1d32	UTSW	10	56,005,189 (GRCm39)	missense	probably damaging	0.99
R4184:Tbc1d32	UTSW	10	56,100,676 (GRCm39)	missense	probably benign	0.15
R4259:Tbc1d32	UTSW	10	55,925,867 (GRCm39)	missense	probably damaging	0.97
R4617:Tbc1d32	UTSW	10	56,047,000 (GRCm39)	missense	possibly damaging	0.92
R4700:Tbc1d32	UTSW	10	56,100,745 (GRCm39)	missense	probably damaging	0.98
R4794:Tbc1d32	UTSW	10	56,072,932 (GRCm39)	missense	possibly damaging	0.92
R4879:Tbc1d32	UTSW	10	55,925,125 (GRCm39)	splice site	probably null
R5031:Tbc1d32	UTSW	10	55,999,627 (GRCm39)	missense	probably damaging	0.98
R5276:Tbc1d32	UTSW	10	56,027,914 (GRCm39)	missense	probably damaging	0.99
R5358:Tbc1d32	UTSW	10	56,047,033 (GRCm39)	missense	possibly damaging	0.93
R5429:Tbc1d32	UTSW	10	55,904,089 (GRCm39)	missense	probably damaging	0.99
R5435:Tbc1d32	UTSW	10	55,916,246 (GRCm39)	missense	probably damaging	0.98
R5451:Tbc1d32	UTSW	10	56,071,571 (GRCm39)	missense	possibly damaging	0.95
R5607:Tbc1d32	UTSW	10	56,005,246 (GRCm39)	missense	possibly damaging	0.92
R5642:Tbc1d32	UTSW	10	56,026,973 (GRCm39)	missense	possibly damaging	0.82
R5732:Tbc1d32	UTSW	10	55,964,489 (GRCm39)	missense	probably damaging	0.99
R5795:Tbc1d32	UTSW	10	56,091,158 (GRCm39)	missense	possibly damaging	0.71
R5988:Tbc1d32	UTSW	10	55,964,433 (GRCm39)	missense	probably damaging	0.98
R6054:Tbc1d32	UTSW	10	56,038,304 (GRCm39)	missense	possibly damaging	0.95
R6103:Tbc1d32	UTSW	10	56,026,979 (GRCm39)	missense	probably damaging	0.99
R6277:Tbc1d32	UTSW	10	56,071,525 (GRCm39)	missense	probably benign
R6422:Tbc1d32	UTSW	10	55,904,157 (GRCm39)	nonsense	probably null
R6508:Tbc1d32	UTSW	10	56,100,786 (GRCm39)	missense	probably damaging	0.98
R6859:Tbc1d32	UTSW	10	56,056,626 (GRCm39)	missense	probably damaging	0.98
R6887:Tbc1d32	UTSW	10	56,027,907 (GRCm39)	nonsense	probably null
R7012:Tbc1d32	UTSW	10	56,100,820 (GRCm39)	missense	probably damaging	0.99
R7253:Tbc1d32	UTSW	10	56,074,537 (GRCm39)	missense	probably benign
R7288:Tbc1d32	UTSW	10	55,927,483 (GRCm39)	critical splice donor site	probably null
R7599:Tbc1d32	UTSW	10	56,027,929 (GRCm39)	missense	possibly damaging	0.92
R8338:Tbc1d32	UTSW	10	55,904,173 (GRCm39)	missense	possibly damaging	0.85
R8814:Tbc1d32	UTSW	10	56,072,688 (GRCm39)	missense	possibly damaging	0.93
R8864:Tbc1d32	UTSW	10	55,963,655 (GRCm39)	missense	probably benign	0.01
R9018:Tbc1d32	UTSW	10	55,948,693 (GRCm39)	missense	probably benign	0.02
R9030:Tbc1d32	UTSW	10	56,037,241 (GRCm39)	missense	possibly damaging	0.92
R9530:Tbc1d32	UTSW	10	56,072,507 (GRCm39)	missense	probably damaging	0.98
R9616:Tbc1d32	UTSW	10	56,037,246 (GRCm39)	missense	possibly damaging	0.85
Z1188:Tbc1d32	UTSW	10	56,046,977 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCCGTGTACAGGTTAAAGGC -3'
(R):5'- AAAGAGTGAGTGTGGCTCTTAG -3'

Sequencing Primer
(F):5'- CCAGTCCCTCAAATGATAGAG -3'
(R):5'- CTCTCAGTCAAACACGAG -3'

Posted On

2016-06-06