Mutagenetix > Incidental Mutation

Incidental Mutation 'R4879:Tbc1d32'

375145

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d32

Ensembl Gene

ENSMUSG00000038122

Gene Name

TBC1 domain family, member 32

Synonyms

D630037F22Rik, C6orf170, Bromi, b2b2284Clo

MMRRC Submission

042488-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R4879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56014293-56228689 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 56049029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097328 (fasta)

Gene Model

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

AlphaFold

Q3URV1

Predicted Effect

probably null
Transcript: ENSMUST00000099739

SMART Domains

Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122

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

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (86/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,219,700	Y541F	probably damaging	Het
Acot12	T	A	13: 91,762,964	V136E	probably benign	Het
Aftph	A	G	11: 20,698,311		probably null	Het
Ambra1	C	T	2: 91,772,694		probably benign	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Ano9	T	C	7: 141,110,502	D73G	probably benign	Het
Asap3	G	A	4: 136,242,664	D778N	probably benign	Het
Atp8a2	G	T	14: 60,008,469	Y591*	probably null	Het
BC067074	T	C	13: 113,319,787	I789T	probably benign	Het
Blk	T	C	14: 63,375,965	T365A	probably benign	Het
C4b	G	T	17: 34,743,647	S27Y	probably damaging	Het
C6	G	T	15: 4,803,647		probably null	Het
Ccdc33	T	A	9: 58,067,556	I345F	possibly damaging	Het
Cetn3	T	A	13: 81,792,149		probably benign	Het
Cntn3	T	A	6: 102,267,428	I387L	possibly damaging	Het
Cog8	A	G	8: 107,056,352	C102R	probably damaging	Het
Cyp2c55	CA	C	19: 39,042,078		probably null	Het
Dmxl1	C	T	18: 49,889,467	A1624V	probably damaging	Het
Dnah1	T	G	14: 31,300,748	E1144A	possibly damaging	Het
Dnah12	T	A	14: 26,718,046		probably null	Het
Dnah2	G	A	11: 69,476,691	T1794I	probably damaging	Het
Erbin	A	T	13: 103,834,774	M778K	probably benign	Het
Fam189a2	T	C	19: 23,975,655		probably null	Het
Fbxw10	G	T	11: 62,847,747	A156S	probably damaging	Het
Flnc	T	A	6: 29,460,806	F2632Y	probably damaging	Het
Frmd4a	A	G	2: 4,529,817	K160E	probably damaging	Het
Glipr1l2	A	G	10: 112,107,124	K295E	probably benign	Het
Gm10651	T	C	7: 27,949,343		noncoding transcript	Het
Gm15292	T	A	8: 21,250,364	L62Q	probably damaging	Het
Gm7257	G	A	9: 36,432,793	C24Y	probably damaging	Het
Herc1	T	A	9: 66,462,837	C465*	probably null	Het
Hoxb4	A	G	11: 96,320,188	I205V	probably damaging	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Il1f6	A	G	2: 24,216,020	N29S	probably benign	Het
Ilk	A	G	7: 105,741,804	S292G	probably benign	Het
Itgb5	G	C	16: 33,875,978	G180R	probably damaging	Het
Kcnip4	T	C	5: 48,409,865	D120G	possibly damaging	Het
Kin	A	G	2: 10,080,644	D5G	probably benign	Het
Lrrtm2	C	A	18: 35,213,319	G310V	probably damaging	Het
Med1	T	C	11: 98,155,360		probably benign	Het
Mepce	C	A	5: 137,785,282		probably benign	Het
Nckipsd	T	A	9: 108,813,915		probably benign	Het
Notch3	T	A	17: 32,147,963	Q866L	probably benign	Het
Olfr1051	A	T	2: 86,275,763	C241*	probably null	Het
Olfr1157	A	T	2: 87,962,696	H65Q	possibly damaging	Het
Olfr547	A	T	7: 102,534,755	T3S	probably benign	Het
Orai1	T	C	5: 123,011,831		probably benign	Het
Pcdhb8	A	T	18: 37,356,166	E299V	probably damaging	Het
Pcnx4	G	A	12: 72,567,185	D635N	probably damaging	Het
Pex5	T	C	6: 124,398,363	I567V	probably benign	Het
Ppfibp2	T	C	7: 107,729,183	S485P	probably benign	Het
Pqlc2	A	T	4: 139,301,784		probably null	Het
Sbno1	T	C	5: 124,404,024	Y356C	probably damaging	Het
Sdcbp	T	C	4: 6,381,056	I67T	possibly damaging	Het
Slc5a7	A	G	17: 54,276,651	I537T	probably benign	Het
Smad4	A	G	18: 73,641,903	C442R	probably damaging	Het
Smpd5	A	G	15: 76,294,870	H146R	possibly damaging	Het
Snai2	A	G	16: 14,706,741	Y37C	probably benign	Het
Snapc4	C	T	2: 26,365,992	S840N	possibly damaging	Het
Stpg2	T	C	3: 139,215,373	I113T	probably benign	Het
Tfg	A	T	16: 56,701,157	S39R	probably damaging	Het
Thsd7b	T	A	1: 130,188,499	S1330T	possibly damaging	Het
Tnfaip3	T	C	10: 19,005,573	T322A	probably benign	Het
Tpra1	A	G	6: 88,911,709	Y291C	probably damaging	Het
Trcg1	A	G	9: 57,246,720	D658G	probably damaging	Het
Trip4	C	T	9: 65,875,022	V143I	probably benign	Het
Trp53bp1	T	C	2: 121,202,603	K1691E	probably damaging	Het
Ttc8	T	A	12: 98,942,303	M77K	possibly damaging	Het
Tubb2a	A	T	13: 34,074,589	M406K	probably benign	Het
Txnrd1	T	A	10: 82,881,917		probably null	Het
Ugt2a3	C	A	5: 87,331,285	R268L	probably benign	Het
Usp34	T	G	11: 23,373,410	M982R	possibly damaging	Het
Vmn2r43	T	A	7: 8,255,103	K370N	probably benign	Het
Vopp1	A	T	6: 57,762,370		probably benign	Het
Vps11	A	C	9: 44,353,300	C660G	probably benign	Het
Wnk1	T	C	6: 119,949,377	H1137R	probably damaging	Het
Wtap	A	G	17: 12,969,435	Y193H	probably damaging	Het
Zfp462	T	A	4: 55,009,444	V470D	probably benign	Het

Other mutations in Tbc1d32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Tbc1d32	APN	10	56155765	missense	probably damaging	1.00
IGL00535:Tbc1d32	APN	10	56215125	splice site	probably benign
IGL00835:Tbc1d32	APN	10	56089846	splice site	probably benign
IGL01013:Tbc1d32	APN	10	56201959	splice site	probably null
IGL01306:Tbc1d32	APN	10	56180524	missense	probably benign	0.14
IGL01452:Tbc1d32	APN	10	56215080	missense	possibly damaging	0.71
IGL01668:Tbc1d32	APN	10	56123577	missense	probably benign	0.37
IGL02008:Tbc1d32	APN	10	56151775	missense	possibly damaging	0.71
IGL02076:Tbc1d32	APN	10	56088403	missense	possibly damaging	0.93
IGL02348:Tbc1d32	APN	10	56224619	missense	probably benign	0.06
IGL02476:Tbc1d32	APN	10	56198542	missense	possibly damaging	0.71
IGL02750:Tbc1d32	APN	10	56198491	missense	possibly damaging	0.95
IGL02893:Tbc1d32	APN	10	56017703	missense	probably damaging	0.98
ANU23:Tbc1d32	UTSW	10	56180524	missense	probably benign	0.14
P0035:Tbc1d32	UTSW	10	56198439	missense	probably damaging	1.00
R0118:Tbc1d32	UTSW	10	56017605	missense	probably benign	0.02
R0446:Tbc1d32	UTSW	10	56192898	missense	possibly damaging	0.93
R0567:Tbc1d32	UTSW	10	56173963	missense	possibly damaging	0.71
R0615:Tbc1d32	UTSW	10	56224640	missense	probably benign	0.33
R0679:Tbc1d32	UTSW	10	56180576	missense	probably damaging	0.99
R0943:Tbc1d32	UTSW	10	56161147	missense	probably benign
R1432:Tbc1d32	UTSW	10	56017662	missense	probably damaging	0.99
R1454:Tbc1d32	UTSW	10	56177479	splice site	probably benign
R1708:Tbc1d32	UTSW	10	56151769	missense	possibly damaging	0.84
R1834:Tbc1d32	UTSW	10	56017604	missense	probably benign	0.00
R1860:Tbc1d32	UTSW	10	56123537	nonsense	probably null
R2208:Tbc1d32	UTSW	10	56150792	critical splice donor site	probably null
R3012:Tbc1d32	UTSW	10	56173915	missense	probably benign	0.08
R3736:Tbc1d32	UTSW	10	56129093	missense	probably damaging	0.99
R4184:Tbc1d32	UTSW	10	56224580	missense	probably benign	0.15
R4259:Tbc1d32	UTSW	10	56049771	missense	probably damaging	0.97
R4617:Tbc1d32	UTSW	10	56170904	missense	possibly damaging	0.92
R4700:Tbc1d32	UTSW	10	56224649	missense	probably damaging	0.98
R4794:Tbc1d32	UTSW	10	56196836	missense	possibly damaging	0.92
R5031:Tbc1d32	UTSW	10	56123531	missense	probably damaging	0.98
R5036:Tbc1d32	UTSW	10	56195404	nonsense	probably null
R5276:Tbc1d32	UTSW	10	56151818	missense	probably damaging	0.99
R5358:Tbc1d32	UTSW	10	56170937	missense	possibly damaging	0.93
R5429:Tbc1d32	UTSW	10	56027993	missense	probably damaging	0.99
R5435:Tbc1d32	UTSW	10	56040150	missense	probably damaging	0.98
R5451:Tbc1d32	UTSW	10	56195475	missense	possibly damaging	0.95
R5607:Tbc1d32	UTSW	10	56129150	missense	possibly damaging	0.92
R5642:Tbc1d32	UTSW	10	56150877	missense	possibly damaging	0.82
R5732:Tbc1d32	UTSW	10	56088393	missense	probably damaging	0.99
R5795:Tbc1d32	UTSW	10	56215062	missense	possibly damaging	0.71
R5988:Tbc1d32	UTSW	10	56088337	missense	probably damaging	0.98
R6054:Tbc1d32	UTSW	10	56162208	missense	possibly damaging	0.95
R6103:Tbc1d32	UTSW	10	56150883	missense	probably damaging	0.99
R6277:Tbc1d32	UTSW	10	56195429	missense	probably benign
R6422:Tbc1d32	UTSW	10	56028061	nonsense	probably null
R6508:Tbc1d32	UTSW	10	56224690	missense	probably damaging	0.98
R6859:Tbc1d32	UTSW	10	56180530	missense	probably damaging	0.98
R6887:Tbc1d32	UTSW	10	56151811	nonsense	probably null
R7012:Tbc1d32	UTSW	10	56224724	missense	probably damaging	0.99
R7253:Tbc1d32	UTSW	10	56198441	missense	probably benign
R7288:Tbc1d32	UTSW	10	56051387	critical splice donor site	probably null
R7599:Tbc1d32	UTSW	10	56151833	missense	possibly damaging	0.92
R8338:Tbc1d32	UTSW	10	56028077	missense	possibly damaging	0.85
R8814:Tbc1d32	UTSW	10	56196592	missense	possibly damaging	0.93
R8864:Tbc1d32	UTSW	10	56087559	missense	probably benign	0.01
R9018:Tbc1d32	UTSW	10	56072597	missense	probably benign	0.02
R9030:Tbc1d32	UTSW	10	56161145	missense	possibly damaging	0.92
R9530:Tbc1d32	UTSW	10	56196411	missense	probably damaging	0.98
R9616:Tbc1d32	UTSW	10	56161150	missense	possibly damaging	0.85
Z1188:Tbc1d32	UTSW	10	56170881	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGAATTATGCAGCCGTGGC -3'
(R):5'- TCTGACGGTAGTTAGCACTGG -3'

Sequencing Primer
(F):5'- CCGTGGCACCCAAAGGAAG -3'
(R):5'- TTAAAAGAAGGACCATGCCACTG -3'

Posted On

2016-03-17