Mutagenetix > Incidental Mutation

Incidental Mutation 'R3012:Tbc1d32'

257540

Institutional Source

Beutler Lab

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: 0.902) question?

Stock #

R3012 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55890389-56104785 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56050011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 509 (V509A)

Ref Sequence

ENSEMBL: ENSMUSP00000097328 (fasta)

Gene Model

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

AlphaFold

Q3URV1

Predicted Effect

probably benign
Transcript: ENSMUST00000099739
AA Change: V509A

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: V509A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219385

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	G	T	19: 40,546,135 (GRCm39)	Y585*	probably null	Het
Ankrd17	G	A	5: 90,378,727 (GRCm39)	P2563S	probably damaging	Het
Atg10	A	T	13: 91,302,397 (GRCm39)	F47Y	probably damaging	Het
Ccdc39	C	T	3: 33,868,817 (GRCm39)	R798Q	probably damaging	Het
Cfi	A	G	3: 129,668,579 (GRCm39)	D535G	probably damaging	Het
Dennd11	T	C	6: 40,412,926 (GRCm39)	E45G	probably benign	Het
Dgat1	T	A	15: 76,387,593 (GRCm39)	Q308H	possibly damaging	Het
Dsp	T	C	13: 38,377,318 (GRCm39)	I1701T	possibly damaging	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Fes	G	C	7: 80,036,915 (GRCm39)	S56R	possibly damaging	Het
Gria1	G	A	11: 57,180,260 (GRCm39)	V737M	probably damaging	Het
Gtf2h1	A	G	7: 46,453,319 (GRCm39)	H84R	probably damaging	Het
Ifi208	A	G	1: 173,523,136 (GRCm39)		probably null	Het
Il15	T	A	8: 83,071,049 (GRCm39)	N22I	probably damaging	Het
Me1	A	G	9: 86,493,965 (GRCm39)	S323P	probably benign	Het
Or10a5	T	C	7: 106,635,569 (GRCm39)	F69S	possibly damaging	Het
Parp4	T	C	14: 56,832,873 (GRCm39)		probably null	Het
Pcdhga7	A	G	18: 37,848,691 (GRCm39)	T233A	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rpe65	G	T	3: 159,310,200 (GRCm39)	V128F	possibly damaging	Het
Slc5a11	GGTGC	G	7: 122,838,595 (GRCm39)		probably null	Het
Tln1	T	A	4: 43,542,525 (GRCm39)	T1428S	probably benign	Het
Ttc27	A	T	17: 75,147,454 (GRCm39)	I669F	probably benign	Het
Tubb3	T	G	8: 124,147,975 (GRCm39)	C303G	probably damaging	Het
Tulp2	G	T	7: 45,168,187 (GRCm39)	V188L	probably damaging	Het
Zfr	T	C	15: 12,166,249 (GRCm39)	Y840H	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGTATCTGTCAGAAAGCATCGC -3'
(R):5'- ACAGTTCTCTTCTGGGCTTTAG -3'

Sequencing Primer
(F):5'- CATCGCAACCATGTCAGGAGTG -3'
(R):5'- CTCTTCTGGGCTTTAGTTGTATGAC -3'

Posted On

2015-01-11