Mutagenetix > Incidental Mutation

Incidental Mutation 'R4020:Gorasp1'

312740

Institutional Source

Beutler Lab

Gene Symbol

Gorasp1

Ensembl Gene

ENSMUSG00000032513

Gene Name

golgi reassembly stacking protein 1

Synonyms

GOLPH5, P65, 5430411C10Rik, GRASP65

MMRRC Submission

040954-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R4020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119754739-119766624 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119757936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 290 (R290C)

Ref Sequence

ENSEMBL: ENSMUSP00000035099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035099] [ENSMUST00000036561] [ENSMUST00000177637] [ENSMUST00000215167] [ENSMUST00000215307]

AlphaFold

Q91X51

Predicted Effect

probably benign
Transcript: ENSMUST00000035099
AA Change: R290C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035099
Gene: ENSMUSG00000032513
AA Change: R290C

Domain	Start	End	E-Value	Type
Pfam:GRASP55_65	2	99	2.6e-22	PFAM
Pfam:GRASP55_65	68	204	4e-60	PFAM
low complexity region	212	224	N/A	INTRINSIC
low complexity region	329	361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000036561

SMART Domains

Protein: ENSMUSP00000042509
Gene: ENSMUSG00000032512

Domain	Start	End	E-Value	Type
WD40	14	58	2.88e-1	SMART
WD40	64	103	2.1e-7	SMART
WD40	106	145	1.37e-6	SMART
WD40	157	196	5.39e-5	SMART
WD40	199	238	1.62e-8	SMART
WD40	241	280	4.62e-4	SMART
WD40	350	388	8.84e1	SMART
low complexity region	460	471	N/A	INTRINSIC
Pfam:DUF3337	509	673	1.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177637

SMART Domains

Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336

Domain	Start	End	E-Value	Type
Pfam:7tm_1	49	294	3.5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214118

Predicted Effect

probably benign
Transcript: ENSMUST00000215167

Predicted Effect

probably benign
Transcript: ENSMUST00000215307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217429

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable, fertile and healthy with no detectable tissue defects. However, immortalized mutant embryonic fibroblasts show loss of cis Golgi integrity and glycosylation defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	C	8: 89,035,362 (GRCm39)	V89L	probably benign	Het
Aebp2	T	A	6: 140,588,021 (GRCm39)	S364T	probably damaging	Het
Akr1b10	C	T	6: 34,369,388 (GRCm39)	T206I	probably benign	Het
Ap4e1	C	T	2: 126,903,846 (GRCm39)	S916F	probably benign	Het
Apob	C	T	12: 8,044,914 (GRCm39)	Q845*	probably null	Het
Asb4	A	G	6: 5,390,803 (GRCm39)		probably benign	Het
Bltp1	A	G	3: 37,066,724 (GRCm39)		probably benign	Het
C1ra	A	T	6: 124,496,736 (GRCm39)	T391S	probably benign	Het
Catsperg2	C	A	7: 29,416,429 (GRCm39)	D328Y	probably damaging	Het
Ciapin1	G	T	8: 95,555,814 (GRCm39)	L119M	probably damaging	Het
Crhr2	A	G	6: 55,077,765 (GRCm39)		probably benign	Het
Cyp2j6	A	G	4: 96,406,407 (GRCm39)	S455P	probably benign	Het
Dctn4	G	A	18: 60,671,329 (GRCm39)		probably benign	Het
Defa25	C	T	8: 21,575,245 (GRCm39)	R75C	probably benign	Het
Dnajc10	T	C	2: 80,175,296 (GRCm39)	L561P	probably damaging	Het
Dnajc7	A	T	11: 100,482,292 (GRCm39)	F185L	probably damaging	Het
Dock9	T	C	14: 121,844,267 (GRCm39)	I1175V	probably benign	Het
Drosha	T	G	15: 12,837,422 (GRCm39)	L302R	possibly damaging	Het
Efcab5	C	T	11: 76,994,930 (GRCm39)	V1214I	probably benign	Het
Erich3	G	A	3: 154,419,686 (GRCm39)	R260H	probably damaging	Het
Fam168b	T	C	1: 34,867,860 (GRCm39)	T47A	possibly damaging	Het
Gtf2a1	A	G	12: 91,539,351 (GRCm39)	S94P	possibly damaging	Het
Ighv1-53	C	T	12: 115,122,442 (GRCm39)	C5Y	probably benign	Het
Impdh1	T	C	6: 29,202,693 (GRCm39)	I446V	probably benign	Het
Krtap5-1	T	C	7: 141,850,094 (GRCm39)		probably null	Het
Lipo3	T	A	19: 33,764,804 (GRCm39)	I17L	probably benign	Het
Lrrc37	A	G	11: 103,506,119 (GRCm39)	S1950P	probably benign	Het
Lss	T	C	10: 76,383,278 (GRCm39)	M526T	probably damaging	Het
Med12l	A	C	3: 59,155,363 (GRCm39)	Q1181P	probably damaging	Het
Mtrf1l	T	C	10: 5,767,454 (GRCm39)	T221A	probably benign	Het
Muc21	T	C	17: 35,930,953 (GRCm39)		probably benign	Het
Mxi1	C	A	19: 53,360,160 (GRCm39)	A294E	probably benign	Het
Naip5	T	C	13: 100,359,883 (GRCm39)	E451G	probably benign	Het
Naip5	T	C	13: 100,359,902 (GRCm39)	I445V	probably benign	Het
Nfrkb	T	A	9: 31,325,407 (GRCm39)	L950Q	possibly damaging	Het
Nherf4	A	T	9: 44,162,117 (GRCm39)		probably null	Het
Oplah	A	G	15: 76,181,476 (GRCm39)	Y1155H	probably damaging	Het
Or5b105	T	G	19: 13,079,790 (GRCm39)	K287Q	probably damaging	Het
Pcnx1	C	T	12: 81,965,018 (GRCm39)	T395I	probably damaging	Het
Pitrm1	A	G	13: 6,606,723 (GRCm39)	H259R	probably damaging	Het
Pllp	C	A	8: 95,406,072 (GRCm39)	M70I	possibly damaging	Het
Pop1	A	G	15: 34,508,926 (GRCm39)	T334A	probably benign	Het
Prep	T	C	10: 44,968,894 (GRCm39)		probably benign	Het
Ptprz1	C	A	6: 22,959,623 (GRCm39)		probably benign	Het
Sbsn	A	G	7: 30,455,390 (GRCm39)	S170G	probably damaging	Het
Sco1	T	G	11: 66,954,846 (GRCm39)	S284A	probably benign	Het
Slc25a10	T	A	11: 120,388,265 (GRCm39)	M227K	probably damaging	Het
Trav7-6	A	G	14: 53,954,638 (GRCm39)	K56R	probably benign	Het
Ubr4	T	G	4: 139,179,116 (GRCm39)	C3322G	probably damaging	Het
Unc5a	T	C	13: 55,151,182 (GRCm39)	Y608H	probably damaging	Het
Zfand1	A	C	3: 10,405,816 (GRCm39)	N262K	probably benign	Het
Zfp335	C	T	2: 164,743,380 (GRCm39)	R536H	probably damaging	Het

Other mutations in Gorasp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0008:Gorasp1	UTSW	9	119,757,312 (GRCm39)	missense	possibly damaging	0.91
R1782:Gorasp1	UTSW	9	119,761,888 (GRCm39)	missense	probably damaging	1.00
R1873:Gorasp1	UTSW	9	119,759,306 (GRCm39)	missense	probably benign	0.23
R2181:Gorasp1	UTSW	9	119,757,422 (GRCm39)	missense	probably damaging	1.00
R5356:Gorasp1	UTSW	9	119,757,024 (GRCm39)	missense	probably damaging	1.00
R6059:Gorasp1	UTSW	9	119,759,072 (GRCm39)	missense	probably damaging	0.99
R6525:Gorasp1	UTSW	9	119,757,061 (GRCm39)	missense	possibly damaging	0.78
R6798:Gorasp1	UTSW	9	119,758,663 (GRCm39)	missense	probably benign	0.02
R7341:Gorasp1	UTSW	9	119,766,600 (GRCm39)	intron	probably benign
R9113:Gorasp1	UTSW	9	119,757,442 (GRCm39)	missense	probably damaging	1.00
X0021:Gorasp1	UTSW	9	119,759,037 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTTGGCCCAAATCCTGCTTTAC -3'
(R):5'- TGAACATCTGTGCACCGGAG -3'

Sequencing Primer
(F):5'- TCTACTCTGGACTGGACTGACAGAG -3'
(R):5'- GAGGTTTCTAGGCACTGGC -3'

Posted On

2015-04-30