Mutagenetix > Incidental Mutation

Incidental Mutation 'R1804:Golm1'

203404

Institutional Source

Beutler Lab

Gene Symbol

Golm1

Ensembl Gene

ENSMUSG00000021556

Gene Name

golgi membrane protein 1

Synonyms

Golph2, 2310001L02Rik, D030064E01Rik, PSEC0257, GP73

MMRRC Submission

039834-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59782810-59823598 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 59790203 bp (GRCm39)

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 null
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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225333

Meta Mutation Damage Score

0.1237

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.5%
20x: 89.8%

Validation Efficiency

96% (77/80)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,400 (GRCm39)	Y220H	probably benign	Het
4930579C12Rik	T	C	9: 89,034,113 (GRCm39)		noncoding transcript	Het
Abcc8	T	C	7: 45,769,903 (GRCm39)	S871G	probably benign	Het
Acly	T	C	11: 100,406,731 (GRCm39)	Y288C	probably damaging	Het
Adgrb1	T	A	15: 74,401,389 (GRCm39)	D128E	probably damaging	Het
Alms1	C	T	6: 85,598,257 (GRCm39)	Q1497*	probably null	Het
Bltp2	A	G	11: 78,164,295 (GRCm39)	H1165R	probably damaging	Het
Cacna1c	G	A	6: 118,664,007 (GRCm39)	T688M	probably damaging	Het
Ccdc7a	A	T	8: 129,715,247 (GRCm39)	L279*	probably null	Het
Cep135	A	G	5: 76,784,779 (GRCm39)	E958G	probably benign	Het
Clec4n	G	T	6: 123,206,981 (GRCm39)	V2L	possibly damaging	Het
Col28a1	C	T	6: 8,164,612 (GRCm39)		probably null	Het
Dcaf5	A	G	12: 80,386,603 (GRCm39)	S508P	probably benign	Het
Dlgap2	C	A	8: 14,777,809 (GRCm39)	N351K	possibly damaging	Het
Dnah8	T	A	17: 30,927,381 (GRCm39)	Y1346N	probably benign	Het
Dqx1	T	C	6: 83,037,303 (GRCm39)	V322A	probably damaging	Het
Ebf3	A	C	7: 136,802,250 (GRCm39)	L412V	possibly damaging	Het
Epha5	T	C	5: 84,479,674 (GRCm39)	N110S	probably benign	Het
Fcgbp	T	C	7: 27,785,564 (GRCm39)	C334R	probably benign	Het
Glp1r	T	A	17: 31,149,687 (GRCm39)		probably null	Het
Gm4952	G	T	19: 12,595,784 (GRCm39)	R58L	probably damaging	Het
Gm7579	G	A	7: 141,765,675 (GRCm39)	C27Y	unknown	Het
Gucy2g	T	A	19: 55,198,741 (GRCm39)	I801F	probably benign	Het
H2-D1	T	C	17: 35,482,528 (GRCm39)	Y83H	probably damaging	Het
Homez	A	T	14: 55,094,598 (GRCm39)	I19N	probably damaging	Het
Hoxa5	T	C	6: 52,179,628 (GRCm39)	K249R	probably damaging	Het
Hsd17b4	A	T	18: 50,311,051 (GRCm39)	N550Y	probably damaging	Het
Ipo4	A	T	14: 55,866,913 (GRCm39)	N668K	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klb	A	G	5: 65,537,196 (GRCm39)	D842G	probably damaging	Het
Minar1	T	A	9: 89,485,152 (GRCm39)	M82L	possibly damaging	Het
Mmp21	G	T	7: 133,280,611 (GRCm39)	P120T	probably benign	Het
Mroh7	T	A	4: 106,551,589 (GRCm39)	I918F	possibly damaging	Het
Muc5b	A	G	7: 141,417,517 (GRCm39)	T3488A	possibly damaging	Het
Npc1	C	T	18: 12,356,145 (GRCm39)	C42Y	probably damaging	Het
Ogdh	A	G	11: 6,288,565 (GRCm39)	Y214C	probably damaging	Het
Or2q1	G	A	6: 42,795,155 (GRCm39)	C250Y	possibly damaging	Het
Or4k15c	A	T	14: 50,321,359 (GRCm39)	W260R	probably damaging	Het
Or4k35	T	C	2: 111,100,275 (GRCm39)	M146V	probably benign	Het
Or5al1	G	T	2: 85,990,417 (GRCm39)	T99N	probably benign	Het
Or8d23	A	G	9: 38,841,946 (GRCm39)	T160A	possibly damaging	Het
Phtf1	A	G	3: 103,894,883 (GRCm39)		probably benign	Het
Plb1	A	G	5: 32,511,041 (GRCm39)	N1302S	possibly damaging	Het
Prex2	A	G	1: 11,202,566 (GRCm39)	K492E	probably damaging	Het
Prkaa1	A	G	15: 5,208,259 (GRCm39)	D509G	probably benign	Het
Rims2	C	T	15: 39,300,439 (GRCm39)	Q57*	probably null	Het
Rnf40	T	C	7: 127,195,120 (GRCm39)	V411A	possibly damaging	Het
Rraga	A	G	4: 86,494,681 (GRCm39)	I176V	probably damaging	Het
Rrm2	T	C	12: 24,758,611 (GRCm39)	I51T	probably benign	Het
Serpina3a	T	A	12: 104,084,675 (GRCm39)		probably benign	Het
Skint7	T	C	4: 111,839,209 (GRCm39)	W168R	probably damaging	Het
Slc27a4	A	G	2: 29,701,279 (GRCm39)	M357V	probably benign	Het
Slc4a3	A	G	1: 75,528,361 (GRCm39)	H452R	probably damaging	Het
Smc1b	A	T	15: 85,011,991 (GRCm39)	I127K	possibly damaging	Het
Snap91	T	A	9: 86,665,470 (GRCm39)	M383L	probably benign	Het
Taf6l	A	T	19: 8,750,998 (GRCm39)	L52Q	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tas2r124	A	G	6: 132,732,488 (GRCm39)	I266V	probably benign	Het
Tesk2	T	C	4: 116,657,818 (GRCm39)		probably benign	Het
Tmem131l	T	G	3: 83,817,786 (GRCm39)	Q1237P	possibly damaging	Het
Tmem67	A	G	4: 12,045,789 (GRCm39)		probably null	Het
Tnfaip8	T	A	18: 50,223,728 (GRCm39)	C179S	probably damaging	Het
Ush2a	G	A	1: 188,365,926 (GRCm39)		probably null	Het
Vps13b	A	T	15: 35,917,283 (GRCm39)	E3709V	probably damaging	Het
Wdr7	A	T	18: 63,998,511 (GRCm39)	S1153C	probably damaging	Het
Zc2hc1b	A	C	10: 13,047,012 (GRCm39)		probably benign	Het
Zfp438	A	G	18: 5,213,689 (GRCm39)	I423T	probably damaging	Het
Zfp592	C	A	7: 80,673,443 (GRCm39)	P136T	probably damaging	Het
Zfp783	T	A	6: 47,922,819 (GRCm39)		noncoding transcript	Het
Zfp804b	A	T	5: 6,821,756 (GRCm39)	S400T	possibly damaging	Het

Other mutations in Golm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Golm1	APN	13	59,797,470 (GRCm39)	missense	probably damaging	0.99
IGL01327:Golm1	APN	13	59,792,958 (GRCm39)	missense	possibly damaging	0.95
IGL02348:Golm1	APN	13	59,786,191 (GRCm39)	missense	probably benign	0.00
R0047:Golm1	UTSW	13	59,792,914 (GRCm39)	missense	probably benign	0.03
R0047:Golm1	UTSW	13	59,792,914 (GRCm39)	missense	probably benign	0.03
R0458:Golm1	UTSW	13	59,812,178 (GRCm39)	missense	probably damaging	0.98
R0989:Golm1	UTSW	13	59,787,997 (GRCm39)	missense	probably benign	0.01
R1301:Golm1	UTSW	13	59,786,187 (GRCm39)	missense	probably damaging	0.99
R1905:Golm1	UTSW	13	59,790,065 (GRCm39)	missense	probably benign	0.04
R1940:Golm1	UTSW	13	59,790,051 (GRCm39)	splice site	probably benign
R2086:Golm1	UTSW	13	59,792,999 (GRCm39)	nonsense	probably null
R2513:Golm1	UTSW	13	59,790,072 (GRCm39)	missense	probably benign	0.01
R2887:Golm1	UTSW	13	59,788,044 (GRCm39)	missense	probably benign	0.00
R3903:Golm1	UTSW	13	59,786,154 (GRCm39)	missense	probably damaging	1.00
R4154:Golm1	UTSW	13	59,790,167 (GRCm39)	missense	probably benign	0.01
R5580:Golm1	UTSW	13	59,790,179 (GRCm39)	missense	probably benign	0.03
R6193:Golm1	UTSW	13	59,792,972 (GRCm39)	missense	probably benign	0.00
R6418:Golm1	UTSW	13	59,813,375 (GRCm39)	missense	probably damaging	1.00
R6594:Golm1	UTSW	13	59,812,041 (GRCm39)	missense	possibly damaging	0.79
R6604:Golm1	UTSW	13	59,786,197 (GRCm39)	missense	probably damaging	1.00
R6967:Golm1	UTSW	13	59,797,390 (GRCm39)	small deletion	probably benign
R6968:Golm1	UTSW	13	59,797,390 (GRCm39)	small deletion	probably benign
R6991:Golm1	UTSW	13	59,797,390 (GRCm39)	small deletion	probably benign
R6992:Golm1	UTSW	13	59,797,390 (GRCm39)	small deletion	probably benign
R6993:Golm1	UTSW	13	59,797,390 (GRCm39)	small deletion	probably benign
R6996:Golm1	UTSW	13	59,790,058 (GRCm39)	missense	probably benign	0.00
R7576:Golm1	UTSW	13	59,792,920 (GRCm39)	missense	probably benign	0.00
R7692:Golm1	UTSW	13	59,788,071 (GRCm39)	missense	probably benign	0.08
R7863:Golm1	UTSW	13	59,797,383 (GRCm39)	missense	probably damaging	1.00
R7948:Golm1	UTSW	13	59,812,011 (GRCm39)	critical splice donor site	probably null
R9519:Golm1	UTSW	13	59,792,914 (GRCm39)	missense	probably benign
R9703:Golm1	UTSW	13	59,797,433 (GRCm39)	missense	probably benign	0.39
X0026:Golm1	UTSW	13	59,786,127 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCTCAGTGTCTGTACAGCCC -3'
(R):5'- GCTGAATGCTGTAGATACCTGG -3'

Sequencing Primer
(F):5'- GTGTCTGTACAGCCCAAGAC -3'
(R):5'- GTTGGATGGTTACATTTTCCTCTGCC -3'

Posted On

2014-06-23