Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03325:Gosr1'

416622

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: 0.955) question?

Stock #

IGL03325

Quality Score

Status

Chromosome

Chromosomal Location

76617428-76654404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76645229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 105 (M105T)

Ref Sequence

ENSEMBL: ENSMUSP00000010536 (fasta)

Gene Model

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

AlphaFold

O88630

Predicted Effect

probably benign
Transcript: ENSMUST00000010536
AA Change: M105T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000010536
Gene: ENSMUSG00000010392
AA Change: M105T

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,844,422 (GRCm39)	R870C	possibly damaging	Het
Abcf2	A	T	5: 24,779,210 (GRCm39)	L113I	probably damaging	Het
Abi1	C	T	2: 22,861,240 (GRCm39)	R106Q	probably damaging	Het
Arhgef28	A	G	13: 98,036,324 (GRCm39)	V1645A	probably benign	Het
Ccdc198	A	T	14: 49,481,277 (GRCm39)		probably benign	Het
Ceacam1	G	A	7: 25,175,912 (GRCm39)	A94V	possibly damaging	Het
Fat2	G	A	11: 55,173,168 (GRCm39)	T2515I	probably damaging	Het
Gm5800	T	C	14: 51,951,983 (GRCm39)	Y93C	probably benign	Het
Gnl1	A	G	17: 36,299,548 (GRCm39)	D573G	probably damaging	Het
Gramd1c	A	T	16: 43,825,868 (GRCm39)	Y303N	probably benign	Het
Heatr9	A	G	11: 83,404,085 (GRCm39)		probably null	Het
Iigp1c	T	A	18: 60,378,883 (GRCm39)	Y139*	probably null	Het
Itih2	T	C	2: 10,111,546 (GRCm39)	D464G	probably damaging	Het
Jcad	T	C	18: 4,673,902 (GRCm39)	Y555H	probably benign	Het
Krtap19-3	A	T	16: 88,674,609 (GRCm39)	*88R	probably null	Het
Mrps11	T	C	7: 78,440,453 (GRCm39)	F114S	probably damaging	Het
Nat8	A	T	6: 85,807,875 (GRCm39)	V86E	possibly damaging	Het
Nek5	T	C	8: 22,569,158 (GRCm39)	T555A	probably benign	Het
Or6c3	A	T	10: 129,309,474 (GRCm39)	K304N	probably benign	Het
Pprc1	C	T	19: 46,049,948 (GRCm39)	T10I	possibly damaging	Het
Prss16	A	G	13: 22,187,417 (GRCm39)	V409A	possibly damaging	Het
Sema3d	T	A	5: 12,513,189 (GRCm39)	L53Q	probably damaging	Het
Sfmbt2	T	C	2: 10,582,628 (GRCm39)	Y696H	probably damaging	Het
Sh2d3c	C	T	2: 32,615,270 (GRCm39)	A120V	probably benign	Het
Smn1	A	G	13: 100,264,365 (GRCm39)	Y32C	probably damaging	Het
Sun2	C	T	15: 79,622,849 (GRCm39)	R110Q	probably benign	Het
Tcp11l2	T	G	10: 84,440,764 (GRCm39)	D323E	possibly damaging	Het
Tex55	A	T	16: 38,648,355 (GRCm39)	S251R	probably damaging	Het
Tnni3k	A	T	3: 154,667,451 (GRCm39)	S296R	probably damaging	Het
Uck1	G	A	2: 32,148,334 (GRCm39)	R161C	probably benign	Het
Unc79	T	A	12: 103,135,869 (GRCm39)	S2435T	probably damaging	Het
Vmn2r114	C	A	17: 23,510,652 (GRCm39)	K609N	probably damaging	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
IGL02640:Gosr1	APN	11	76,645,603 (GRCm39)	missense	probably benign	0.01
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
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

2016-08-02