Mutagenetix > Incidental Mutation

Incidental Mutation 'R6967:Golm1'

542073

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 #

R6967 (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: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (56/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	A	G	7: 104,059,005	I199T	probably benign	Het
6430628N08Rik	A	G	4: 115,898,294	T97A	unknown	Het
Adam23	T	G	1: 63,563,336		probably null	Het
Adamts8	C	T	9: 30,954,491	T445I	probably benign	Het
Ahi1	T	C	10: 20,988,625	V752A	probably damaging	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Bicra	T	C	7: 15,972,205	E1437G	probably damaging	Het
Cdc42ep4	C	T	11: 113,729,172	S131N	possibly damaging	Het
Ces1f	G	A	8: 93,267,997	P262L	probably benign	Het
Chrna2	A	T	14: 66,150,949		probably null	Het
Cspg4	G	A	9: 56,890,136	V1295M	possibly damaging	Het
D5Ertd579e	T	C	5: 36,615,756	T432A	probably benign	Het
Dach1	A	T	14: 97,903,197	S456R	probably damaging	Het
Dhx37	T	C	5: 125,422,167	D659G	probably benign	Het
Dscaml1	T	C	9: 45,674,523	V586A	probably damaging	Het
Efhb	G	T	17: 53,463,168	L38I	probably benign	Het
Fam208b	A	T	13: 3,574,819	D1710E	probably benign	Het
Fbxw10	T	C	11: 62,847,603	S108P	possibly damaging	Het
Fmnl2	A	G	2: 53,097,332	N313S	possibly damaging	Het
Gga3	T	C	11: 115,591,276	E172G	probably damaging	Het
Ggta1	A	G	2: 35,402,722	V191A	possibly damaging	Het
Hcn4	C	T	9: 58,823,945	T145M	unknown	Het
Kirrel3	T	C	9: 35,034,906	S654P	probably damaging	Het
Klrb1	A	T	6: 128,710,523		probably null	Het
Krt15	T	A	11: 100,134,513	D166V	probably damaging	Het
Lipk	T	A	19: 34,040,394	Y277*	probably null	Het
Ly6g	A	C	15: 75,158,549	N49T	possibly damaging	Het
Ms4a4c	A	T	19: 11,414,827	Q4L	probably benign	Het
Nfya	A	C	17: 48,392,904		probably benign	Het
Nub1	T	C	5: 24,708,711	V530A	probably benign	Het
Ocln	A	T	13: 100,539,288	Y232*	probably null	Het
Olfr1129	A	G	2: 87,575,513	N143S	possibly damaging	Het
Olfr1468-ps1	A	G	19: 13,375,451	H163R	unknown	Het
Olfr456	A	G	6: 42,487,013	F60S	probably damaging	Het
Olfr462	C	T	11: 87,889,498	V133I	probably benign	Het
Otogl	G	A	10: 107,814,050	A1148V	probably benign	Het
Paqr5	C	T	9: 61,972,831	W46*	probably null	Het
Psd2	C	A	18: 35,980,332	L286M	probably damaging	Het
Ptpn4	A	T	1: 119,684,581	Y27*	probably null	Het
Ripk2	A	G	4: 16,158,275		probably null	Het
Rsf1	G	GACGGCGGCA	7: 97,579,909		probably benign	Het
Sbk2	C	T	7: 4,964,147		probably null	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Sspo	A	C	6: 48,489,794	D4072A	probably benign	Het
St6galnac3	T	C	3: 153,206,708	Y214C	probably damaging	Het
Sugp1	T	A	8: 70,060,552	D256E	possibly damaging	Het
Sugt1	A	G	14: 79,597,407	Y90C	probably benign	Het
Taok2	A	G	7: 126,870,392	I1088T	probably damaging	Het
Tmc7	T	A	7: 118,547,678	T459S	probably benign	Het
Tmed11	T	C	5: 108,778,914	Y164C	probably damaging	Het
Tmem63b	T	C	17: 45,666,632	E356G	probably benign	Het
Ttc13	T	C	8: 124,688,618	I261V	probably benign	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Vmn1r73	A	T	7: 11,756,617	K121*	probably null	Het
Zc3h12d	A	T	10: 7,839,880	S16C	probably damaging	Het
Zfp292	A	T	4: 34,807,812	M1744K	probably damaging	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
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
R6993: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'- GTGAACATATGCATGCATGTACAC -3'
(R):5'- TCAAGGTGCAGGCTTCTGTG -3'

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

Posted On

2018-11-28