Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00535:Tbc1d32'

10036

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d32

Ensembl Gene

ENSMUSG00000038122

Gene Name

TBC1 domain family, member 32

Synonyms

D630037F22Rik, Bromi, b2b2284Clo, C6orf170

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

IGL00535

Quality Score

Status

Chromosome

Chromosomal Location

55890389-56104785 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 56091221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097328 (fasta)

Gene Model

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

AlphaFold

Q3URV1

Predicted Effect

probably benign
Transcript: ENSMUST00000099739

SMART Domains

Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219385

Coding Region Coverage

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	T	G	17: 79,935,328 (GRCm39)		probably benign	Het
Armc3	A	G	2: 19,308,669 (GRCm39)	E767G	possibly damaging	Het
Btaf1	A	T	19: 36,974,935 (GRCm39)	D1403V	probably damaging	Het
Chd2	C	A	7: 73,190,576 (GRCm39)	M2I	probably benign	Het
Cyp2r1	C	A	7: 114,151,061 (GRCm39)	M419I	probably benign	Het
Dnttip2	A	T	3: 122,078,148 (GRCm39)	R727W	probably damaging	Het
Gtf3c1	G	T	7: 125,243,325 (GRCm39)	H1760N	probably benign	Het
Iffo1	C	T	6: 125,137,516 (GRCm39)	A532V	probably damaging	Het
Ints6	T	C	14: 62,940,628 (GRCm39)	D574G	probably damaging	Het
Rims1	A	T	1: 22,503,172 (GRCm39)	S671T	probably benign	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Spam1	T	A	6: 24,796,722 (GRCm39)	Y224*	probably null	Het
Spata6l	T	A	19: 28,937,073 (GRCm39)		probably benign	Het
Spata7	A	C	12: 98,635,099 (GRCm39)	E345A	probably damaging	Het
Tex28	T	C	X: 73,204,647 (GRCm39)	H215R	probably damaging	Het
Tmigd3	A	T	3: 105,824,384 (GRCm39)	R118*	probably null	Het
Wnk4	T	A	11: 101,155,175 (GRCm39)	M362K	probably damaging	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
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
R5036:Tbc1d32	UTSW	10	56,071,500 (GRCm39)	nonsense	probably null
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

Posted On

2012-12-06