Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02829:Bet1'

361356

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bet1

Ensembl Gene

ENSMUSG00000032757

Gene Name

Bet1 golgi vesicular membrane trafficking protein

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02829

Quality Score

Status

Chromosome

Chromosomal Location

4076899-4086930 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 4086795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000044877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049166]

AlphaFold

O35623

Predicted Effect

probably benign
Transcript: ENSMUST00000049166
AA Change: M1L

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000044877
Gene: ENSMUSG00000032757
AA Change: M1L

Domain	Start	End	E-Value	Type
t_SNARE	21	88	1.77e-11	SMART
transmembrane domain	96	115	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205191

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs9	A	G	9: 22,490,780 (GRCm39)	T303A	probably damaging	Het
Bicc1	A	C	10: 70,794,710 (GRCm39)	V149G	probably damaging	Het
Braf	C	A	6: 39,604,662 (GRCm39)	L655F	possibly damaging	Het
Cd101	A	G	3: 100,925,881 (GRCm39)		probably benign	Het
Cobll1	T	C	2: 64,956,389 (GRCm39)	K290E	probably damaging	Het
Col6a5	A	T	9: 105,811,506 (GRCm39)	I671K	unknown	Het
D130052B06Rik	A	C	11: 33,573,864 (GRCm39)	T154P	probably benign	Het
Dglucy	A	C	12: 100,837,663 (GRCm39)	H602P	probably damaging	Het
Fbxo34	A	G	14: 47,767,146 (GRCm39)	I220V	probably benign	Het
Gm42878	A	G	5: 121,675,266 (GRCm39)	V101A	probably damaging	Het
Gsdmc4	A	G	15: 63,764,497 (GRCm39)	L381P	probably benign	Het
Ifi208	C	A	1: 173,510,406 (GRCm39)	P187H	probably damaging	Het
Lrrc37a	A	T	11: 103,382,000 (GRCm39)	C2473S	unknown	Het
Miip	T	A	4: 147,947,518 (GRCm39)	N214I	probably benign	Het
Mrc2	A	G	11: 105,227,533 (GRCm39)	T589A	possibly damaging	Het
Mtss1	A	G	15: 58,930,277 (GRCm39)		probably benign	Het
Mypn	T	C	10: 63,028,365 (GRCm39)	R233G	probably benign	Het
Naip6	A	T	13: 100,437,273 (GRCm39)	C417S	probably benign	Het
Or13f5	C	T	4: 52,826,027 (GRCm39)	P210L	probably damaging	Het
Or4c111	A	C	2: 88,844,021 (GRCm39)	L129W	probably damaging	Het
Or8k37	T	A	2: 86,469,599 (GRCm39)	Y151F	possibly damaging	Het
Pcsk1	T	C	13: 75,274,955 (GRCm39)	Y515H	probably damaging	Het
Pla2g2e	T	A	4: 138,607,747 (GRCm39)	Y42*	probably null	Het
Polh	A	T	17: 46,483,828 (GRCm39)	L479Q	possibly damaging	Het
Prr36	T	A	8: 4,265,278 (GRCm39)	R157S	possibly damaging	Het
Reck	T	A	4: 43,891,014 (GRCm39)	C51S	probably damaging	Het
Rev3l	A	G	10: 39,701,236 (GRCm39)	D1911G	probably damaging	Het
Scgb1b27	A	T	7: 33,721,173 (GRCm39)		probably null	Het
Sema4g	G	A	19: 44,981,188 (GRCm39)	R47Q	possibly damaging	Het
Serinc1	A	T	10: 57,400,061 (GRCm39)	Y158*	probably null	Het
Slc15a2	C	A	16: 36,577,555 (GRCm39)	G435C	possibly damaging	Het
Tbc1d17	C	A	7: 44,498,296 (GRCm39)		probably benign	Het
Tenm4	C	T	7: 96,544,205 (GRCm39)	Q2074*	probably null	Het
Tns3	A	G	11: 8,469,564 (GRCm39)	C244R	probably damaging	Het
Vmn2r2	A	T	3: 64,026,172 (GRCm39)		probably benign	Het
Vmn2r44	T	A	7: 8,380,879 (GRCm39)	Q338L	possibly damaging	Het
Wdr70	C	T	15: 8,006,463 (GRCm39)	D363N	possibly damaging	Het
Yipf7	A	T	5: 69,698,434 (GRCm39)	S24R	probably benign	Het

Other mutations in Bet1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02048:Bet1	APN	6	4,082,456 (GRCm39)	critical splice donor site	probably null
R5083:Bet1	UTSW	6	4,077,895 (GRCm39)	missense	possibly damaging	0.91
R7956:Bet1	UTSW	6	4,079,965 (GRCm39)	missense	probably benign	0.02
R9545:Bet1	UTSW	6	4,077,973 (GRCm39)	missense	probably damaging	0.99
R9612:Bet1	UTSW	6	4,077,918 (GRCm39)	missense	probably damaging	1.00
R9697:Bet1	UTSW	6	4,082,471 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18