Mutagenetix > Incidental Mutation

Incidental Mutation 'R4184:Tbc1d32'

319875

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d32

Ensembl Gene

ENSMUSG00000038122

Gene Name

TBC1 domain family, member 32

Synonyms

D630037F22Rik, C6orf170, Bromi, b2b2284Clo

MMRRC Submission

041020-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R4184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56014293-56228689 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56224580 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 101 (T101S)

Ref Sequence

ENSEMBL: ENSMUSP00000097328 (fasta)

Gene Model

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

AlphaFold

Q3URV1

Predicted Effect

probably benign
Transcript: ENSMUST00000099739
AA Change: T101S

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: T101S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219385

Meta Mutation Damage Score

0.0770

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (55/58)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc178	A	G	18: 22,024,784	L539P	probably damaging	Het
Cd5	T	A	19: 10,721,274	N423I	probably damaging	Het
Ceacam20	C	T	7: 19,976,116	T355I	probably damaging	Het
Chil4	G	A	3: 106,203,727	P284S	possibly damaging	Het
Cln8	T	C	8: 14,895,030	F115L	probably benign	Het
Cpne9	T	A	6: 113,282,457		probably benign	Het
Cyp4a32	C	T	4: 115,621,523	T484I	possibly damaging	Het
Des	C	G	1: 75,362,584	A251G	probably benign	Het
Dnah3	T	C	7: 120,083,293	D270G	probably damaging	Het
Epc1	T	C	18: 6,453,578	E249G	possibly damaging	Het
Fsbp	T	A	4: 11,584,058	N252K	probably benign	Het
Gm498	A	T	7: 143,894,121	K234*	probably null	Het
Gramd1a	C	A	7: 31,132,515		probably benign	Het
Grsf1	G	A	5: 88,664,156	P271S	probably benign	Het
Igsf10	C	T	3: 59,319,731	V2174M	probably damaging	Het
Kcnu1	T	C	8: 25,862,417	L204P	probably damaging	Het
Kdm7a	T	C	6: 39,148,977	E628G	probably benign	Het
Klhl36	T	C	8: 119,874,385	M381T	probably damaging	Het
Kpna3	A	T	14: 61,368,175	Y474N	probably damaging	Het
Lsm8	G	T	6: 18,849,605		probably benign	Het
Mapk8	T	C	14: 33,382,220	D413G	probably damaging	Het
Mbd2	T	A	18: 70,617,979	C362S	probably damaging	Het
Mex3b	A	G	7: 82,870,030	R518G	probably benign	Het
Mical1	T	C	10: 41,481,870		probably benign	Het
Myo18a	T	C	11: 77,857,787	S1996P	probably damaging	Het
Olfr740	A	G	14: 50,453,370	Y106C	probably damaging	Het
Olfr747	C	G	14: 50,681,050	E195Q	probably benign	Het
Olfr97	T	G	17: 37,231,848	H174P	possibly damaging	Het
Otop2	T	A	11: 115,329,845	C504S	probably benign	Het
Pkhd1	T	A	1: 20,209,277	H2939L	probably benign	Het
Pkhd1	C	T	1: 20,563,686	V542M	probably benign	Het
Pkhd1l1	C	T	15: 44,591,906	T4021I	probably benign	Het
Prr36	T	C	8: 4,213,409		probably benign	Het
Ptchd4	A	T	17: 42,502,759	Y517F	probably damaging	Het
Pth1r	A	G	9: 110,742,232	M1T	probably null	Het
Rdx	C	A	9: 52,067,380	L163M	probably damaging	Het
Reep6	A	G	10: 80,333,814	Y112C	probably damaging	Het
Rpp21	A	G	17: 36,257,719		probably benign	Het
Sacs	T	A	14: 61,213,944	C4480S	probably damaging	Het
Slc15a1	G	A	14: 121,466,162	T512I	probably benign	Het
Slc22a22	A	T	15: 57,256,566	C170*	probably null	Het
Slc26a2	C	T	18: 61,198,832	R509K	probably benign	Het
Slc4a10	A	G	2: 62,317,442		probably benign	Het
Stc1	A	T	14: 69,029,385		probably benign	Het
Tsc2	T	C	17: 24,632,016	T23A	probably benign	Het
Vmn1r52	T	G	6: 90,179,237	F174L	probably benign	Het
Zfp972	G	A	2: 177,921,457	Q56*	probably null	Het
Zfp982	A	G	4: 147,512,693	K169R	probably benign	Het
Zfpl1	A	G	19: 6,081,140	L274P	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
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
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'- GTCTGTCTCTACCTGCCAAG -3'
(R):5'- AATATGTTACAGGCCTTTGTGTGC -3'

Sequencing Primer
(F):5'- TCTACCTGCCAAGTGCCAC -3'
(R):5'- GATCTGATTAATAACTGAGAGTGCG -3'

Posted On

2015-06-10