Mutagenetix > Incidental Mutation

Incidental Mutation 'R8385:Gosr1'

647129

Institutional Source

Beutler Lab

Gene Symbol

Gosr1

Ensembl Gene

ENSMUSG00000010392

Gene Name

golgi SNAP receptor complex member 1

Synonyms

GOS-28, Cis-Golgi SNARE, GS28

MMRRC Submission

067751-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R8385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76617428-76654404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76620967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 241 (T241S)

Ref Sequence

ENSEMBL: ENSMUSP00000010536 (fasta)

Gene Model

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

AlphaFold

O88630

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010536
AA Change: T241S

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000010536
Gene: ENSMUSG00000010392
AA Change: T241S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brap	C	T	5: 121,823,197 (GRCm39)	T473I	probably benign	Het
Cacna1e	T	A	1: 154,319,687 (GRCm39)	M1400L	probably damaging	Het
Catsper2	A	G	2: 121,240,621 (GRCm39)	I127T	possibly damaging	Het
Dbt	A	T	3: 116,317,039 (GRCm39)	I72F	probably damaging	Het
Ddhd2	T	C	8: 26,225,041 (GRCm39)	H592R	probably damaging	Het
Disp2	T	A	2: 118,620,891 (GRCm39)	M541K	probably damaging	Het
Dnai7	C	T	6: 145,120,918 (GRCm39)	E685K	probably damaging	Het
Dnmbp	T	C	19: 43,878,090 (GRCm39)	D327G	probably benign	Het
Dvl1	A	G	4: 155,940,037 (GRCm39)	S390G	possibly damaging	Het
Fbxo22	A	G	9: 55,121,233 (GRCm39)	D106G	probably damaging	Het
Gfm2	A	G	13: 97,301,519 (GRCm39)	T441A	probably benign	Het
Gm5431	T	C	11: 48,780,347 (GRCm39)	I192V	probably damaging	Het
Hk2	T	C	6: 82,706,527 (GRCm39)	S792G	probably benign	Het
Itsn1	A	C	16: 91,690,699 (GRCm39)	K1302Q	unknown	Het
Kif16b	T	C	2: 142,554,258 (GRCm39)	K847E	probably benign	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Mark3	A	G	12: 111,621,808 (GRCm39)	D650G	possibly damaging	Het
Mgat4f	A	G	1: 134,318,376 (GRCm39)	K383E	probably benign	Het
Mob3b	T	C	4: 34,985,980 (GRCm39)	Y186C	probably damaging	Het
Mphosph9	T	C	5: 124,450,785 (GRCm39)	K329E	probably benign	Het
Mta1	A	T	12: 113,095,085 (GRCm39)	M448L	probably benign	Het
Mterf1a	A	T	5: 3,941,384 (GRCm39)	N161K	probably damaging	Het
Myo10	T	A	15: 25,804,484 (GRCm39)	I1593N	probably damaging	Het
Naca	A	G	10: 127,878,307 (GRCm39)	N1113S	unknown	Het
Or2w4	T	C	13: 21,795,522 (GRCm39)	I206V	probably benign	Het
Or5e1	T	G	7: 108,354,511 (GRCm39)	Y149*	probably null	Het
Pcdhga1	A	T	18: 37,795,149 (GRCm39)	D51V	probably damaging	Het
Peg3	T	C	7: 6,711,082 (GRCm39)	E1380G	probably damaging	Het
Pkd1	G	A	17: 24,794,702 (GRCm39)	V2130M	possibly damaging	Het
Pla2g4c	C	T	7: 13,063,589 (GRCm39)	P19S	probably benign	Het
Popdc2	G	A	16: 38,183,262 (GRCm39)	V82I	probably benign	Het
Ppfibp2	A	G	7: 107,296,894 (GRCm39)	R203G	probably benign	Het
Rab19	T	A	6: 39,360,892 (GRCm39)	N13K	probably benign	Het
Raet1d	T	A	10: 22,246,817 (GRCm39)	D48E	probably benign	Het
Rell1	T	A	5: 64,087,861 (GRCm39)	K136*	probably null	Het
Slc38a4	A	G	15: 96,897,393 (GRCm39)	I474T	probably damaging	Het
Slf1	T	C	13: 77,254,109 (GRCm39)	M243V	probably benign	Het
Spata31f1a	C	T	4: 42,850,509 (GRCm39)	R549H	possibly damaging	Het
Speer4c2	A	T	5: 15,857,669 (GRCm39)	S203T	unknown	Het
Spg11	A	T	2: 121,927,802 (GRCm39)	S661T	probably benign	Het
Thra	C	G	11: 98,659,177 (GRCm39)	S435R	probably benign	Het
Tmem181a	T	C	17: 6,339,274 (GRCm39)	I61T	probably benign	Het
Ttpa	G	A	4: 20,028,483 (GRCm39)	G247S	probably damaging	Het
Usp17lb	C	T	7: 104,489,830 (GRCm39)	V366I	possibly damaging	Het
Vit	A	T	17: 78,927,066 (GRCm39)	Q337L	probably benign	Het
Vmn2r102	A	G	17: 19,914,088 (GRCm39)	Y551C	possibly damaging	Het
Vps52	T	C	17: 34,181,791 (GRCm39)	L539P	probably damaging	Het
Ythdc1	C	A	5: 86,975,961 (GRCm39)	P529T	possibly damaging	Het
Zdhhc13	T	C	7: 48,455,444 (GRCm39)		probably null	Het
Zfp282	A	T	6: 47,882,023 (GRCm39)	Y570F	possibly damaging	Het
Zfp872	A	T	9: 22,111,407 (GRCm39)	K295N	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
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

Predicted Primers

PCR Primer
(F):5'- AAACTTCGGCTTCAGCTCAG -3'
(R):5'- ACTGGTCTCGCATTCTTGG -3'

Sequencing Primer
(F):5'- TTCAGCTCAGCCCGACCAG -3'
(R):5'- CTGTTTGTGGACTGTACTAATGGC -3'

Posted On

2020-09-02