Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02640:Gosr1'

301683

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gosr1

Ensembl Gene

ENSMUSG00000010392

Gene Name

golgi SNAP receptor complex member 1

Synonyms

GOS-28, Cis-Golgi SNARE, GS28

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL02640

Quality Score

Status

Chromosome

Chromosomal Location

76617428-76654404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76645603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 59 (N59S)

Ref Sequence

ENSEMBL: ENSMUSP00000010536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010536]

AlphaFold

O88630

Predicted Effect

probably benign
Transcript: ENSMUST00000010536
AA Change: N59S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000010536
Gene: ENSMUSG00000010392
AA Change: N59S

Domain	Start	End	E-Value	Type
Pfam:V-SNARE_C	161	226	1.9e-25	PFAM
transmembrane domain	230	249	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137767

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 trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh3	C	A	2: 93,826,706 (GRCm39)	R165L	possibly damaging	Het
Arap3	A	G	18: 38,120,855 (GRCm39)	V730A	possibly damaging	Het
Arcn1	A	C	9: 44,662,614 (GRCm39)	I344S	probably damaging	Het
Ascc3	A	C	10: 50,643,470 (GRCm39)	D1807A	possibly damaging	Het
Atp2b3	A	G	X: 72,585,811 (GRCm39)	S615G	probably benign	Het
Ccdc40	A	G	11: 119,128,904 (GRCm39)	N450S	probably benign	Het
Cep41	T	C	6: 30,658,867 (GRCm39)	E160G	probably benign	Het
Cxxc1	T	C	18: 74,354,254 (GRCm39)	L654P	probably damaging	Het
Dusp29	T	A	14: 21,753,123 (GRCm39)	T8S	probably damaging	Het
Gnb4	C	T	3: 32,645,374 (GRCm39)	A106T	probably benign	Het
Itgav	A	G	2: 83,622,283 (GRCm39)	T622A	probably benign	Het
Lamc2	A	G	1: 153,027,803 (GRCm39)	I207T	probably damaging	Het
Lce1c	C	A	3: 92,587,845 (GRCm39)		probably benign	Het
Mcm3ap	G	T	10: 76,342,255 (GRCm39)	D1583Y	probably damaging	Het
Mphosph9	A	T	5: 124,453,563 (GRCm39)	F220I	possibly damaging	Het
Or14j2	A	G	17: 37,885,912 (GRCm39)	V134A	possibly damaging	Het
Or2ag16	A	T	7: 106,352,559 (GRCm39)	F12Y	probably damaging	Het
Plcb1	T	G	2: 135,062,779 (GRCm39)		probably benign	Het
Polr3c	G	A	3: 96,624,002 (GRCm39)	T312M	probably damaging	Het
Ppp4r3c2	T	C	X: 88,796,210 (GRCm39)	V14A	probably benign	Het
Ptpn12	G	T	5: 21,224,244 (GRCm39)	D116E	probably damaging	Het
Ptprb	A	G	10: 116,174,569 (GRCm39)	D747G	probably damaging	Het
Scn9a	A	G	2: 66,366,440 (GRCm39)		probably null	Het
Slit3	T	C	11: 35,591,172 (GRCm39)	V1328A	probably benign	Het
Sucla2	C	A	14: 73,819,246 (GRCm39)	S264Y	probably benign	Het
Tagln3	T	C	16: 45,544,596 (GRCm39)	D25G	probably benign	Het
Tbck	A	G	3: 132,480,247 (GRCm39)	T709A	probably benign	Het
Tead1	C	T	7: 112,460,663 (GRCm39)	A189V	probably benign	Het
Tmem234	A	G	4: 129,494,896 (GRCm39)	Q46R	probably damaging	Het
Trpm1	T	A	7: 63,868,881 (GRCm39)	L395Q	probably damaging	Het
Tti2	T	A	8: 31,645,942 (GRCm39)	W419R	probably damaging	Het
Vmn2r3	A	T	3: 64,194,816 (GRCm39)	M34K	probably benign	Het
Vps13c	G	T	9: 67,793,530 (GRCm39)		probably benign	Het
Zfp521	A	T	18: 13,977,987 (GRCm39)	Y809N	probably benign	Het

Other mutations in Gosr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01713:Gosr1	APN	11	76,645,582 (GRCm39)	missense	probably benign	0.34
IGL02686:Gosr1	APN	11	76,641,688 (GRCm39)	missense	probably benign	0.00
IGL02939:Gosr1	APN	11	76,641,732 (GRCm39)	splice site	probably benign
IGL03325:Gosr1	APN	11	76,645,229 (GRCm39)	missense	probably benign	0.04
R0743:Gosr1	UTSW	11	76,620,972 (GRCm39)	missense	probably benign
R0884:Gosr1	UTSW	11	76,620,972 (GRCm39)	missense	probably benign
R1712:Gosr1	UTSW	11	76,641,704 (GRCm39)	missense	possibly damaging	0.58
R2064:Gosr1	UTSW	11	76,628,224 (GRCm39)	missense	probably benign	0.00
R4403:Gosr1	UTSW	11	76,645,561 (GRCm39)	missense	possibly damaging	0.77
R4919:Gosr1	UTSW	11	76,625,392 (GRCm39)	splice site	probably null
R7342:Gosr1	UTSW	11	76,621,033 (GRCm39)	missense	probably benign	0.00
R7507:Gosr1	UTSW	11	76,645,240 (GRCm39)	missense	probably benign	0.14
R8385:Gosr1	UTSW	11	76,620,967 (GRCm39)	missense	possibly damaging	0.89

Posted On

2015-04-16