Mutagenetix > Incidental Mutation

Incidental Mutation 'R1860:Tbc1d32'

203817

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d32

Ensembl Gene

ENSMUSG00000038122

Gene Name

TBC1 domain family, member 32

Synonyms

D630037F22Rik, C6orf170, Bromi, b2b2284Clo

MMRRC Submission

039883-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R1860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56014293-56228689 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 56123537 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 846 (Y846*)

Ref Sequence

ENSEMBL: ENSMUSP00000097328 (fasta)

Gene Model

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

AlphaFold

Q3URV1

Predicted Effect

probably null
Transcript: ENSMUST00000099739
AA Change: Y846*

SMART Domains

Protein: ENSMUSP00000097328
Gene: ENSMUSG00000038122
AA Change: Y846*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219385

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,736,232	C587R	probably damaging	Het
Abca16	T	A	7: 120,534,763	S1320T	probably benign	Het
Abra	C	A	15: 41,869,034	R212L	probably damaging	Het
Acadsb	T	A	7: 131,444,229		probably null	Het
Adam26a	A	G	8: 43,569,541	V304A	possibly damaging	Het
Adgre1	T	C	17: 57,441,363	V521A	probably benign	Het
Adh5	G	A	3: 138,453,778	V288I	probably benign	Het
Astn1	A	C	1: 158,601,945	N753T	probably damaging	Het
Atad2	A	T	15: 58,096,718		probably null	Het
Best3	A	G	10: 116,993,273	T153A	probably damaging	Het
Ccdc122	G	A	14: 77,111,407	V226I	probably damaging	Het
Ccdc175	T	C	12: 72,105,926	Q735R	probably benign	Het
Cd19	T	A	7: 126,409,641	I499F	probably damaging	Het
Cftr	T	A	6: 18,268,289	L749H	probably benign	Het
Clec2h	G	T	6: 128,675,827	G186W	probably damaging	Het
Cpsf3	T	A	12: 21,296,732	I202N	probably damaging	Het
Crebbp	G	T	16: 4,087,736	T1669N	possibly damaging	Het
Csmd3	A	T	15: 47,659,192	C2694S	probably damaging	Het
Cul4a	G	A	8: 13,123,565	R204Q	probably damaging	Het
D230025D16Rik	A	G	8: 105,240,071	E150G	probably null	Het
Derl2	A	G	11: 71,018,343	F43S	probably damaging	Het
Dnah14	T	A	1: 181,763,960	N3348K	probably damaging	Het
Dnhd1	T	C	7: 105,704,205	V2855A	probably benign	Het
Dpysl4	G	T	7: 139,090,299	C27F	probably benign	Het
Fam228b	G	A	12: 4,748,314	A163V	probably damaging	Het
Fscn1	T	C	5: 142,970,063		probably null	Het
Fzd5	C	A	1: 64,734,994	R536L	probably damaging	Het
Gm8180	T	A	14: 43,783,739	H4L	probably benign	Het
Gpr176	T	A	2: 118,373,178	N4Y	probably damaging	Het
Grin3a	T	C	4: 49,665,309	I1109V	possibly damaging	Het
H2afy	A	G	13: 56,083,204	L287P	probably damaging	Het
Hcar1	T	A	5: 123,879,029	I200F	probably damaging	Het
Heatr4	G	A	12: 83,979,728	Q252*	probably null	Het
Hps1	G	A	19: 42,762,449	H371Y	probably damaging	Het
Ikzf2	T	C	1: 69,570,502	T195A	probably damaging	Het
Kdm1b	G	A	13: 47,049,190	A34T	probably benign	Het
Lef1	A	G	3: 131,111,641	N57S	probably damaging	Het
Ltn1	A	T	16: 87,416,343	D443E	probably benign	Het
Mamdc2	T	C	19: 23,359,153	T331A	probably damaging	Het
March10	A	T	11: 105,397,078	S133T	probably damaging	Het
Mb	A	G	15: 77,017,584	Y104H	probably damaging	Het
Mrc1	C	A	2: 14,328,579	P1357Q	probably benign	Het
Nfib	C	T	4: 82,323,680	V425M	probably damaging	Het
Olfr1197	T	G	2: 88,729,330	I90L	probably damaging	Het
Olfr1262	G	A	2: 90,003,146	V247I	probably benign	Het
Olfr1272	C	A	2: 90,282,158	C139F	probably damaging	Het
Olfr1467	T	A	19: 13,365,341	S238T	possibly damaging	Het
Olfr473	A	G	7: 107,934,390	Y290C	probably damaging	Het
Olfr527	G	A	7: 140,336,219	R119H	possibly damaging	Het
Olfr654	T	C	7: 104,587,905	S34P	probably damaging	Het
Olfr732	A	T	14: 50,281,391	Y287*	probably null	Het
Olfr784	T	C	10: 129,388,086	F151S	probably damaging	Het
Olfr916	A	T	9: 38,658,365	V9E	probably damaging	Het
Piezo1	T	C	8: 122,495,750	N919S	possibly damaging	Het
Prkaca	T	C	8: 83,981,223	S46P	probably benign	Het
Prkcb	T	G	7: 122,568,201	V378G	probably damaging	Het
Ptprf	A	T	4: 118,223,932	L576Q	probably damaging	Het
Rapgef4	T	C	2: 72,234,720	V687A	probably benign	Het
Rsad2	C	T	12: 26,450,617	V224I	probably damaging	Het
Ryr1	A	T	7: 29,009,552	D4796E	unknown	Het
Scn1a	C	T	2: 66,317,982	S1073N	probably damaging	Het
Slc26a3	A	G	12: 31,465,846	M582V	probably benign	Het
Tbk1	A	T	10: 121,547,171	M719K	probably benign	Het
Timeless	A	G	10: 128,246,114	K536R	probably benign	Het
Tle6	G	T	10: 81,594,329	Q330K	probably damaging	Het
Tmem208	A	G	8: 105,334,806	K155E	possibly damaging	Het
Toe1	T	C	4: 116,805,229	Y273C	probably damaging	Het
Tppp2	A	C	14: 51,920,605	N169T	probably benign	Het
Ttll6	T	A	11: 96,138,874	Y204*	probably null	Het
Ubxn11	G	A	4: 134,124,838	S32N	probably damaging	Het
Usp8	G	A	2: 126,756,040	C961Y	probably damaging	Het
Vdac3	A	T	8: 22,580,499	I132K	possibly damaging	Het
Vmn2r124	G	T	17: 18,049,497	W5L	probably benign	Het
Vmn2r71	A	T	7: 85,615,574	D38V	probably damaging	Het
Vmn2r87	C	T	10: 130,479,886	V104I	probably benign	Het
Vmn2r97	C	T	17: 18,947,386	T634I	probably benign	Het
Vps50	T	C	6: 3,520,279		probably null	Het
Wwc2	T	C	8: 47,990,102	N32S	possibly damaging	Het
Ythdc2	T	A	18: 44,872,956	I1172K	possibly damaging	Het
Zfp14	C	T	7: 30,038,691	V290M	probably damaging	Het
Zfp317	G	A	9: 19,641,984	A18T	possibly damaging	Het
Zfp354b	A	T	11: 50,923,542	N185K	probably benign	Het
Zscan21	T	A	5: 138,126,630	D269E	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
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
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'- TAACCCACCTTAGCACTTTCTAGG -3'
(R):5'- CCAGGGTGAATCCACGTTTTG -3'

Sequencing Primer
(F):5'- ATGAGGACTTGAGCCTCATCC -3'
(R):5'- CACGTTTTGGAGTCAGAAATTTAAG -3'

Posted On

2014-06-23