Mutagenetix > Incidental Mutation

Incidental Mutation 'R6993:Golm1'

543990

Institutional Source

Beutler Lab

Gene Symbol

Golm1

Ensembl Gene

ENSMUSG00000021556

Gene Name

golgi membrane protein 1

Synonyms

2310001L02Rik, GP73, PSEC0257, D030064E01Rik, Golph2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6993 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

59634626-59675811 bp(-) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

ACTTCTTCT to ACTTCT at 59649576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000093410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022039] [ENSMUST00000095739]

AlphaFold

Q91XA2

Predicted Effect

probably benign
Transcript: ENSMUST00000022039

SMART Domains

Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	40	144	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000095739

SMART Domains

Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	40	144	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (66/67)

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 type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased premature lethality with kidney abnormalities and liver steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,248,424	E10G	possibly damaging	Het
Akap9	A	G	5: 4,065,866	I3429V	possibly damaging	Het
Braf	T	A	6: 39,643,163	I441F	probably damaging	Het
C5ar1	A	T	7: 16,248,912	V61E	probably damaging	Het
Camk2a	C	A	18: 60,943,175		probably benign	Het
Cd163	A	G	6: 124,317,714	Y579C	probably damaging	Het
Celf1	T	C	2: 91,010,476	Y363H	probably damaging	Het
Cntn3	T	C	6: 102,278,404	T178A	probably damaging	Het
Cryab	C	T	9: 50,753,448	P58S	probably benign	Het
Ctsf	G	T	19: 4,858,483	R290L	probably benign	Het
Ctsw	T	A	19: 5,465,837	I258F	probably damaging	Het
Dnah7b	T	C	1: 46,195,139		probably null	Het
Drg1	TCATCTTCCA	TCA	11: 3,250,294		probably null	Het
Etfb	A	G	7: 43,456,554	T172A	possibly damaging	Het
Etfdh	A	G	3: 79,612,031	Y272H	probably benign	Het
Ewsr1	C	T	11: 5,071,573	R454Q	probably benign	Het
F2rl2	T	A	13: 95,701,134	I229N	probably damaging	Het
Fam162a	A	T	16: 36,049,845	I88N	probably damaging	Het
Fastkd5	A	G	2: 130,616,539	S44P	probably benign	Het
Fat3	T	G	9: 15,919,221	S4326R	probably damaging	Het
Fbf1	T	C	11: 116,152,784	K400E	probably benign	Het
Fndc7	A	G	3: 108,876,591	V234A	probably benign	Het
Gfi1	T	A	5: 107,717,768	H481L	probably damaging	Het
Gm5591	T	A	7: 38,519,223	H742L	probably benign	Het
Gm5724	G	A	6: 141,765,742	T81I	possibly damaging	Het
Gm853	A	G	4: 130,218,313	L192P	probably damaging	Het
H2-DMb1	A	C	17: 34,157,350	T148P	possibly damaging	Het
H2-T3	A	G	17: 36,187,070	L317P	probably damaging	Het
Hes3	T	C	4: 152,286,923	T190A	probably benign	Het
Hivep1	C	T	13: 42,158,714	L1477F	possibly damaging	Het
Insr	C	T	8: 3,258,752	G95S	probably damaging	Het
Irf9	A	G	14: 55,608,957	I394V	probably benign	Het
Kat2b	T	C	17: 53,638,522	L323P	probably damaging	Het
Kdr	T	C	5: 75,972,411	D69G	probably benign	Het
Krt2	C	T	15: 101,815,960	E290K	probably damaging	Het
Krtap4-6	G	T	11: 99,665,719	R61S	unknown	Het
Lrrc27	A	T	7: 139,242,624	K477M	probably damaging	Het
Lvrn	T	C	18: 46,882,298	V579A	probably benign	Het
Malrd1	A	T	2: 16,150,791	I2004L	unknown	Het
Mast4	A	T	13: 102,735,974	N2103K	probably benign	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Myo18a	T	A	11: 77,859,074		probably benign	Het
Olfr597	G	T	7: 103,320,791		probably benign	Het
Olfr975	T	A	9: 39,950,637	M45L	probably benign	Het
Pcdhga10	A	G	18: 37,749,256	Y690C	probably damaging	Het
Pdcd2	A	G	17: 15,527,081	Y65H	probably damaging	Het
Ppp1r12a	A	G	10: 108,240,837	E309G	probably benign	Het
Psmb8	A	G	17: 34,199,643	D123G	probably damaging	Het
Ptcd3	A	T	6: 71,885,315	W513R	probably damaging	Het
Ptx4	G	A	17: 25,124,924	V383I	possibly damaging	Het
Ric1	T	C	19: 29,586,613	L589S	probably damaging	Het
Rmnd5b	A	G	11: 51,624,600		probably benign	Het
Sec16a	A	T	2: 26,423,574	S1925T	probably damaging	Het
Slc16a11	T	A	11: 70,216,016	M360K	possibly damaging	Het
Slc19a2	T	A	1: 164,260,822	F79I	probably benign	Het
Slc2a6	G	T	2: 27,027,243	S45R	probably damaging	Het
Sppl3	T	A	5: 115,082,290	M87K	probably damaging	Het
Tbcel	A	T	9: 42,416,117	L330*	probably null	Het
Tbx5	A	T	5: 119,871,389	Y321F	possibly damaging	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tesk1	A	G	4: 43,447,006	T465A	probably benign	Het
Unc45a	A	T	7: 80,325,655	Y934N	probably damaging	Het
Unc80	A	T	1: 66,549,793	Q1039L	possibly damaging	Het
Vmn2r112	T	C	17: 22,603,214	L291P	probably benign	Het
Wwc2	A	T	8: 47,847,465	F988I	unknown	Het
Zfp947	G	A	17: 22,145,980	P238S	probably benign	Het

Other mutations in Golm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Golm1	APN	13	59649656	missense	probably damaging	0.99
IGL01327:Golm1	APN	13	59645144	missense	possibly damaging	0.95
IGL02348:Golm1	APN	13	59638377	missense	probably benign	0.00
R0047:Golm1	UTSW	13	59645100	missense	probably benign	0.03
R0047:Golm1	UTSW	13	59645100	missense	probably benign	0.03
R0458:Golm1	UTSW	13	59664364	missense	probably damaging	0.98
R0989:Golm1	UTSW	13	59640183	missense	probably benign	0.01
R1301:Golm1	UTSW	13	59638373	missense	probably damaging	0.99
R1804:Golm1	UTSW	13	59642389	critical splice acceptor site	probably null
R1905:Golm1	UTSW	13	59642251	missense	probably benign	0.04
R1940:Golm1	UTSW	13	59642237	splice site	probably benign
R2086:Golm1	UTSW	13	59645185	nonsense	probably null
R2513:Golm1	UTSW	13	59642258	missense	probably benign	0.01
R2887:Golm1	UTSW	13	59640230	missense	probably benign	0.00
R3903:Golm1	UTSW	13	59638340	missense	probably damaging	1.00
R4154:Golm1	UTSW	13	59642353	missense	probably benign	0.01
R5580:Golm1	UTSW	13	59642365	missense	probably benign	0.03
R6193:Golm1	UTSW	13	59645158	missense	probably benign	0.00
R6418:Golm1	UTSW	13	59665561	missense	probably damaging	1.00
R6594:Golm1	UTSW	13	59664227	missense	possibly damaging	0.79
R6604:Golm1	UTSW	13	59638383	missense	probably damaging	1.00
R6967:Golm1	UTSW	13	59649576	small deletion	probably benign
R6968:Golm1	UTSW	13	59649576	small deletion	probably benign
R6991:Golm1	UTSW	13	59649576	small deletion	probably benign
R6992:Golm1	UTSW	13	59649576	small deletion	probably benign
R6996:Golm1	UTSW	13	59642244	missense	probably benign	0.00
R7576:Golm1	UTSW	13	59645106	missense	probably benign	0.00
R7692:Golm1	UTSW	13	59640257	missense	probably benign	0.08
R7863:Golm1	UTSW	13	59649569	missense	probably damaging	1.00
R7948:Golm1	UTSW	13	59664197	critical splice donor site	probably null
R9519:Golm1	UTSW	13	59645100	missense	probably benign
R9703:Golm1	UTSW	13	59649619	missense	probably benign	0.39
X0026:Golm1	UTSW	13	59638313	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCATGTGAACATATGCATGC -3'
(R):5'- TCAAGGTGCAGGCTTCTGTG -3'

Sequencing Primer
(F):5'- CCATGTGAACATATGCATGCATGTAC -3'
(R):5'- TCTGTAGACCGGACTAGGTTCAAC -3'

Posted On

2019-05-13