Mutagenetix > Incidental Mutation

Incidental Mutation 'R0743:Gosr1'

70795

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

038924-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R0743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76617428-76654404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76620972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 239 (I239T)

Ref Sequence

ENSEMBL: ENSMUSP00000010536 (fasta)

Gene Model

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

AlphaFold

O88630

Predicted Effect

probably benign
Transcript: ENSMUST00000010536
AA Change: I239T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000010536
Gene: ENSMUSG00000010392
AA Change: I239T

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: 99.2%
3x: 98.6%
10x: 96.7%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,700 (GRCm39)	I844N	possibly damaging	Het
Bend7	A	T	2: 4,749,055 (GRCm39)	K57N	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cfap91	A	G	16: 38,155,996 (GRCm39)	F76L	probably damaging	Het
Csmd2	A	T	4: 128,007,469 (GRCm39)	T149S	probably benign	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dennd2b	A	G	7: 109,156,552 (GRCm39)	L66P	probably damaging	Het
Dnase1l2	A	G	17: 24,660,854 (GRCm39)	V170A	possibly damaging	Het
Dnm2	T	A	9: 21,411,561 (GRCm39)	Y597N	probably damaging	Het
Epsti1	A	T	14: 78,168,715 (GRCm39)	R117S	probably damaging	Het
Gabarapl2	A	T	8: 112,669,137 (GRCm39)	I32F	probably damaging	Het
Glrb	T	A	3: 80,786,987 (GRCm39)	I59F	probably damaging	Het
Kif5b	G	T	18: 6,209,192 (GRCm39)	R857S	probably damaging	Het
Kmt5a	C	A	5: 124,585,282 (GRCm39)	N44K	probably damaging	Het
Ksr1	A	T	11: 78,912,329 (GRCm39)	H675Q	possibly damaging	Het
Mep1b	A	G	18: 21,213,515 (GRCm39)	D68G	possibly damaging	Het
Nebl	A	C	2: 17,415,929 (GRCm39)	S327A	probably benign	Het
Nfat5	G	A	8: 108,094,698 (GRCm39)	E962K	probably damaging	Het
Nfatc4	A	C	14: 56,064,101 (GRCm39)	D126A	probably damaging	Het
Nmt2	A	T	2: 3,315,822 (GRCm39)	R271*	probably null	Het
Nol7	G	A	13: 43,554,091 (GRCm39)	V133I	probably benign	Het
Npepps	A	G	11: 97,096,884 (GRCm39)		probably benign	Het
Nphp3	GCATCATCATCATCATC	GCATCATCATCATC	9: 103,899,967 (GRCm39)		probably benign	Het
Or1e1c	A	T	11: 73,265,715 (GRCm39)	I47F	probably benign	Het
Or51ag1	C	T	7: 103,156,069 (GRCm39)	W28*	probably null	Het
Or6c66	T	A	10: 129,461,712 (GRCm39)	T73S	probably benign	Het
Or8h10	G	A	2: 86,808,843 (GRCm39)	T99I	probably benign	Het
Ovgp1	T	A	3: 105,882,248 (GRCm39)	L37H	probably damaging	Het
Padi3	G	T	4: 140,513,740 (GRCm39)	A646D	probably benign	Het
Pamr1	A	G	2: 102,440,252 (GRCm39)	E142G	probably damaging	Het
Papolg	A	T	11: 23,820,818 (GRCm39)		probably null	Het
Pate8	T	C	9: 36,492,597 (GRCm39)	S103G	probably benign	Het
Pfkl	C	T	10: 77,831,077 (GRCm39)		probably null	Het
Plrg1	T	C	3: 82,967,224 (GRCm39)	S132P	probably benign	Het
Pramel23	A	T	4: 143,425,134 (GRCm39)	I103N	probably damaging	Het
Prr14l	C	A	5: 32,988,538 (GRCm39)	C319F	possibly damaging	Het
Prtn3	T	A	10: 79,715,511 (GRCm39)	M1K	probably null	Het
Ptpn22	T	C	3: 103,809,487 (GRCm39)	F700S	probably damaging	Het
Ptprz1	C	T	6: 23,044,366 (GRCm39)	Q1273*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,569,415 (GRCm39)	D4963G	probably damaging	Het
Sec16a	G	A	2: 26,309,734 (GRCm39)	L2091F	possibly damaging	Het
Senp6	C	T	9: 80,000,871 (GRCm39)	R27C	probably damaging	Het
Shcbp1	T	A	8: 4,814,906 (GRCm39)	M191L	probably benign	Het
Sirt4	T	C	5: 115,621,014 (GRCm39)	K53E	probably benign	Het
Slc10a2	A	G	8: 5,139,132 (GRCm39)	S271P	probably damaging	Het
Slc35b2	T	A	17: 45,877,751 (GRCm39)	F293I	probably damaging	Het
Slc38a10	C	T	11: 120,031,469 (GRCm39)	V103M	probably damaging	Het
Stab2	T	A	10: 86,723,759 (GRCm39)	I1479F	probably damaging	Het
Synpo2	A	G	3: 122,906,355 (GRCm39)	V987A	probably benign	Het
Syt9	A	G	7: 107,035,768 (GRCm39)	I262V	probably damaging	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tmem39a	A	T	16: 38,405,764 (GRCm39)	I200F	probably damaging	Het
Ttn	G	A	2: 76,579,613 (GRCm39)	T23760M	probably damaging	Het
Uqcrc1	C	T	9: 108,773,773 (GRCm39)	Q22*	probably null	Het
Wdtc1	A	G	4: 133,027,972 (GRCm39)	W377R	probably damaging	Het
Zfp454	A	G	11: 50,764,764 (GRCm39)	S223P	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCACAGGTGCAGTTTGGAATC -3'
(R):5'- GCGTTTATCCCAGATGGGAATGCAG -3'

Sequencing Primer
(F):5'- CAGTTTGGAATCCATCTGCTGG -3'
(R):5'- GAATGCAGGTTGCTCCTTTC -3'

Posted On

2013-09-30