Mutagenetix > Incidental Mutation

Incidental Mutation 'R7288:Tbc1d32'

566170

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d32

Ensembl Gene

ENSMUSG00000038122

Gene Name

TBC1 domain family, member 32

Synonyms

D630037F22Rik, C6orf170, Bromi, b2b2284Clo

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R7288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56014293-56228689 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 56051387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097328 (fasta)

Gene Model

predicted gene model for transcript(s): [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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,880,305	D204E	probably benign	Het
Adh1	T	G	3: 138,282,732	D155E	probably benign	Het
Akt1s1	T	C	7: 44,849,147	L2P	unknown	Het
Ash1l	T	A	3: 88,965,892		probably benign	Het
Bend7	C	T	2: 4,752,830	P228S	probably damaging	Het
Bpifc	T	C	10: 85,988,721	E218G	possibly damaging	Het
Cdk6	T	A	5: 3,429,001	F127Y	probably benign	Het
Cgnl1	A	T	9: 71,725,564	H168Q	possibly damaging	Het
Chd7	C	T	4: 8,847,093	T1612I	possibly damaging	Het
Col4a4	A	T	1: 82,492,463	C782S	unknown	Het
Copg2	T	A	6: 30,824,406	I364L	probably damaging	Het
Crygb	A	G	1: 65,081,925	L81P	probably benign	Het
Cyp4f18	A	T	8: 71,993,173	M326K	probably damaging	Het
Dhx34	A	G	7: 16,215,436	S356P	probably benign	Het
Dmbt1	C	T	7: 131,083,789	Q855*	probably null	Het
Dnph1	A	G	17: 46,499,012	N160S	probably benign	Het
Esrra	A	T	19: 6,912,771	C228*	probably null	Het
Evpl	T	C	11: 116,223,949	N972D	probably benign	Het
Fat3	T	C	9: 15,998,592	D2038G	probably damaging	Het
Fhit	T	A	14: 9,763,784	R102W	probably damaging	Het
Gal3st1	A	T	11: 3,998,609	D272V	probably damaging	Het
Gal3st1	T	A	11: 3,998,651	V286D	probably damaging	Het
Gemin4	A	T	11: 76,213,380	M185K	possibly damaging	Het
Hecw1	T	C	13: 14,316,236	I311V	probably benign	Het
Ift172	T	C	5: 31,285,286	Y179C	probably damaging	Het
Ighv7-3	C	T	12: 114,153,343	W66*	probably null	Het
Iqgap3	T	A	3: 88,108,835	I975N	probably damaging	Het
Khdrbs3	A	G	15: 69,049,413	E281G	possibly damaging	Het
Lamb2	A	T	9: 108,488,324	T1369S	probably benign	Het
Mettl8	A	T	2: 70,982,038	D84E	probably benign	Het
Mrgprb3	C	A	7: 48,643,311	C164F	probably damaging	Het
Mtg2	A	G	2: 180,083,387	Y131C	probably damaging	Het
Nacc1	C	T	8: 84,676,545	A234T	probably benign	Het
Nsmaf	C	T	4: 6,416,641	V551I	probably benign	Het
Olfr541	T	A	7: 140,705,029	C259*	probably null	Het
Olfr869	T	A	9: 20,137,441	Y108*	probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Pcdhb12	T	A	18: 37,436,015	D71E	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Pkm	A	G	9: 59,668,913	S127G	probably benign	Het
Plxna2	T	A	1: 194,796,919	L1296H	probably damaging	Het
Ppil6	C	G	10: 41,498,528	T135R	probably benign	Het
Ppp2r3a	T	C	9: 101,127,004	Y378C	probably damaging	Het
Rabep2	C	T	7: 126,444,205	R426C	probably damaging	Het
Rad21	A	T	15: 51,982,580	H31Q	possibly damaging	Het
Rad50	G	T	11: 53,654,949	Y1182*	probably null	Het
Serpinb9c	C	T	13: 33,151,900	A218T	possibly damaging	Het
Slc17a2	C	A	13: 23,819,112	H248Q	probably benign	Het
Slc45a4	C	A	15: 73,586,936	E255*	probably null	Het
Slc8a3	T	A	12: 81,216,824	K596N	possibly damaging	Het
Tbl2	T	A	5: 135,154,399	I112N	possibly damaging	Het
Tchp	A	C	5: 114,715,569	K238T	probably damaging	Het
Tfap2d	G	A	1: 19,118,983	G251D	probably damaging	Het
Thrb	T	A	14: 18,030,186	M324K	probably damaging	Het
Tmem259	A	T	10: 79,978,466	L328Q	probably damaging	Het
Tmtc2	T	C	10: 105,413,608	H88R	probably damaging	Het
Tnfrsf21	A	G	17: 43,037,818	H107R	possibly damaging	Het
Trib1	T	C	15: 59,654,622	V347A	probably benign	Het
Ung	T	A	5: 114,131,254	L9*	probably null	Het
Vmn1r195	G	T	13: 22,279,004	V215F	probably damaging	Het
Wdr63	T	C	3: 146,081,252	T343A	probably damaging	Het
Wdr90	A	G	17: 25,846,312	S1657P	probably benign	Het
Wdsub1	A	T	2: 59,878,143	Y129N	possibly damaging	Het
Zfp369	T	G	13: 65,285,018		probably null	Het
Zfp770	G	T	2: 114,195,661	C642*	probably null	Het
Zfp981	C	T	4: 146,537,643	R342C	probably benign	Het
Zhx3	A	C	2: 160,781,122	V375G	probably damaging	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
R4879:Tbc1d32	UTSW	10	56049029	splice site	probably null
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
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'- GCTATAACTAAATTACAGCCAGAGG -3'
(R):5'- CGATTTCGATATAAGTGTTAGGAAGCC -3'

Sequencing Primer
(F):5'- GTGAGTGATAAATGCTGCATT -3'
(R):5'- AGGCTGGCCTTGAACTTAC -3'

Posted On

2019-06-26