Mutagenetix > Incidental Mutation

Incidental Mutation 'R6992:Golm1'

543926

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 #

R6992 (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: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	T	C	9: 92,354,672	M128T	probably benign	Het
4921539E11Rik	C	T	4: 103,242,793	S171N	possibly damaging	Het
6030468B19Rik	T	G	11: 117,797,768	M1R	probably null	Het
9530053A07Rik	T	A	7: 28,140,183	F474I	probably benign	Het
A730049H05Rik	T	C	6: 92,827,994		probably benign	Het
AC125199.3	G	T	16: 88,812,027	H52Q	possibly damaging	Het
Adam34	A	T	8: 43,652,605	M1K	probably null	Het
Adgrf5	T	C	17: 43,452,323		probably null	Het
Antxr2	T	C	5: 97,960,705	T316A	probably benign	Het
Cc2d1a	A	T	8: 84,134,913	V714D	probably damaging	Het
Cd96	A	G	16: 46,049,724	S461P	possibly damaging	Het
Cdc16	C	A	8: 13,759,188	A51E	probably benign	Het
Chd4	T	A	6: 125,114,376	D1243E	probably benign	Het
Cntf	A	T	19: 12,765,333	I21N	probably damaging	Het
Col11a2	C	T	17: 34,047,144	A282V	probably benign	Het
Col14a1	T	A	15: 55,411,562		probably null	Het
Cyp2b9	T	C	7: 26,201,139	Y401H	probably benign	Het
Dlgap4	A	G	2: 156,748,940		probably null	Het
Fancd2	T	C	6: 113,571,018		probably null	Het
Frem1	A	G	4: 82,940,362	V1622A	possibly damaging	Het
Gstm4	A	G	3: 108,044,665	M3T	possibly damaging	Het
Hdac10	T	C	15: 89,125,331	D466G	probably benign	Het
Hook2	A	G	8: 85,002,556	E625G	probably damaging	Het
Hspbp1	G	C	7: 4,664,715	P260A	probably benign	Het
Igdcc3	C	A	9: 65,181,571	Q411K	probably damaging	Het
Il18rap	G	A	1: 40,542,035	E356K	probably benign	Het
Inpp4a	A	T	1: 37,389,691	M699L	probably damaging	Het
Klhdc1	A	G	12: 69,253,757	H157R	probably damaging	Het
Klhl6	G	T	16: 19,953,587	T336N	probably damaging	Het
March7	T	C	2: 60,229,084		probably null	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mlh3	T	A	12: 85,235,720	N1412Y	probably damaging	Het
Mrps27	A	G	13: 99,405,014	M209V	probably benign	Het
Mtor	A	T	4: 148,464,475	T572S	probably benign	Het
Neurog1	T	C	13: 56,251,550	K128R	probably damaging	Het
Olfr124	T	A	17: 37,805,863	N239K	probably damaging	Het
Olfr1484	A	G	19: 13,585,447	I48V	possibly damaging	Het
Olfr981	T	A	9: 40,022,600	L69*	probably null	Het
Pcdhgb1	A	G	18: 37,681,599	K381R	probably benign	Het
Pdzd2	T	C	15: 12,457,859	D306G	probably damaging	Het
Plekha5	C	T	6: 140,543,908	T237I	probably damaging	Het
Pole	A	T	5: 110,332,499	I103F	probably damaging	Het
Ppfia2	A	T	10: 106,474,854	Q74L	possibly damaging	Het
Ppm1d	T	C	11: 85,332,352	F261S	probably damaging	Het
Psg21	A	T	7: 18,654,743		probably null	Het
Ptprg	T	A	14: 11,962,602	F133L	probably damaging	Het
Rom1	G	A	19: 8,929,205		probably benign	Het
Rtn3	A	G	19: 7,435,124	F762L	probably damaging	Het
Sec23ip	T	C	7: 128,765,440	S600P	probably benign	Het
Sema4b	T	A	7: 80,220,152	I396N	probably damaging	Het
Serpina3k	T	A	12: 104,341,107	D199E	probably benign	Het
Slc19a1	A	G	10: 77,049,706	D480G	possibly damaging	Het
Slc8b1	G	A	5: 120,527,815	V404M	probably damaging	Het
Slco1a4	T	C	6: 141,819,604	D304G	probably benign	Het
Smpdl3b	G	T	4: 132,745,141	A107D	possibly damaging	Het
Tesk1	A	G	4: 43,447,006	T465A	probably benign	Het
Tmem245	A	G	4: 56,937,940	F203L	probably benign	Het
Tnip1	T	A	11: 54,918,716	I442F	probably benign	Het
Txnip	A	G	3: 96,559,123	K127R	possibly damaging	Het
Usp32	A	C	11: 85,032,088	L172R	probably damaging	Het
Vmn2r66	A	G	7: 85,005,228	S508P	possibly damaging	Het
Vwa5b2	T	A	16: 20,598,202	Y550N	probably damaging	Het
Wdr81	G	A	11: 75,451,786	A885V	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
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'- TCCATGTGAACATATGCATGCATG -3'
(R):5'- TCAAGGTGCAGGCTTCTGTG -3'

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

Posted On

2019-05-13