Mutagenetix > Incidental Mutation

Incidental Mutation 'R2086:Golm1'

230017

Institutional Source

Beutler Lab

Gene Symbol

Golm1

Ensembl Gene

ENSMUSG00000021556

Gene Name

golgi membrane protein 1

Synonyms

2310001L02Rik, GP73, PSEC0257, D030064E01Rik, Golph2

MMRRC Submission

040091-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R2086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59634626-59675811 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 59645185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 169 (Q169*)

Ref Sequence

ENSEMBL: ENSMUSP00000093410 (fasta)

Gene Model

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

AlphaFold

Q91XA2

Predicted Effect

probably null
Transcript: ENSMUST00000022039
AA Change: Q169*

SMART Domains

Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: Q169*

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
AA Change: Q169*

SMART Domains

Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: Q169*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 125,318,595 (GRCm38)	M53T	unknown	Het
Abcb11	T	A	2: 69,259,476 (GRCm38)		probably benign	Het
Acap2	C	G	16: 31,110,945 (GRCm38)	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,228,012 (GRCm38)	R302G	probably damaging	Het
Ap2b1	T	G	11: 83,351,118 (GRCm38)	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,352,298 (GRCm38)	T310S	possibly damaging	Het
Atp6v1b1	T	C	6: 83,757,852 (GRCm38)	V382A	probably benign	Het
Atp6v1g1	T	A	4: 63,550,067 (GRCm38)	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,316,782 (GRCm38)	V37D	probably damaging	Het
Cacna1d	T	C	14: 30,047,357 (GRCm38)	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,109,411 (GRCm38)	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,203 (GRCm38)	E256G	probably damaging	Het
Cd5	A	G	19: 10,723,256 (GRCm38)	S295P	probably benign	Het
Cenpb	T	C	2: 131,178,597 (GRCm38)		probably benign	Het
Cntnap3	A	G	13: 64,794,262 (GRCm38)	M218T	possibly damaging	Het
Colec11	C	T	12: 28,594,787 (GRCm38)	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098 (GRCm38)		probably benign	Het
Csnk2a1	A	G	2: 152,254,281 (GRCm38)	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,312,308 (GRCm38)	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,743,659 (GRCm38)	Q98L	probably null	Het
Dnah11	G	T	12: 118,113,871 (GRCm38)	Q1296K	possibly damaging	Het
Doxl2	A	G	6: 48,977,602 (GRCm38)	E558G	probably damaging	Het
Edc4	T	A	8: 105,888,002 (GRCm38)	D105E	probably damaging	Het
Eid2b	C	T	7: 28,277,773 (GRCm38)		probably benign	Het
Exoc1	A	T	5: 76,532,846 (GRCm38)	K28*	probably null	Het
Fam114a1	A	G	5: 64,980,059 (GRCm38)	D115G	probably benign	Het
Fam151a	A	T	4: 106,735,563 (GRCm38)		probably null	Het
Gc	T	C	5: 89,438,342 (GRCm38)	Y313C	probably damaging	Het
Gdpd1	A	G	11: 87,035,268 (GRCm38)	Y284H	probably benign	Het
Gm21957	T	A	7: 125,219,706 (GRCm38)		noncoding transcript	Het
Greb1l	T	C	18: 10,523,281 (GRCm38)	V813A	probably damaging	Het
Itih1	C	T	14: 30,937,843 (GRCm38)	A279T	probably damaging	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Lama1	T	C	17: 67,817,623 (GRCm38)	C2893R	probably damaging	Het
Lama3	T	A	18: 12,524,830 (GRCm38)	N334K	probably benign	Het
Loxhd1	A	G	18: 77,384,946 (GRCm38)	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,398,385 (GRCm38)	K316R	probably benign	Het
Mapre3	A	C	5: 30,863,202 (GRCm38)		probably null	Het
Mfsd7a	C	T	5: 108,445,621 (GRCm38)	R117H	probably damaging	Het
Mgam	T	A	6: 40,761,028 (GRCm38)		probably null	Het
Mical2	A	C	7: 112,318,603 (GRCm38)	H389P	probably benign	Het
Mtmr2	A	G	9: 13,799,952 (GRCm38)	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,634,071 (GRCm38)	L1309F	probably benign	Het
Nid2	G	A	14: 19,778,043 (GRCm38)	G516S	probably benign	Het
Nodal	A	T	10: 61,423,298 (GRCm38)	E171D	possibly damaging	Het
Notch2	T	C	3: 98,102,367 (GRCm38)	S537P	probably damaging	Het
Obox6	A	G	7: 15,833,607 (GRCm38)	L305S	probably damaging	Het
Obscn	T	C	11: 59,078,256 (GRCm38)	D2715G	probably damaging	Het
Olfr154	A	C	2: 85,663,746 (GRCm38)	S229R	probably benign	Het
Olfr728	T	A	14: 50,140,123 (GRCm38)	N172I	probably damaging	Het
Pcca	T	C	14: 122,686,115 (GRCm38)	S404P	probably damaging	Het
Pcdh10	T	C	3: 45,380,471 (GRCm38)	S407P	probably damaging	Het
Plekha5	C	A	6: 140,570,318 (GRCm38)		probably null	Het
Ptdss1	A	G	13: 66,953,555 (GRCm38)	N72S	probably benign	Het
Ptprs	T	C	17: 56,454,984 (GRCm38)	I43V	probably null	Het
Pygm	G	A	19: 6,391,481 (GRCm38)		probably null	Het
Rab7	C	T	6: 88,012,318 (GRCm38)	V57I	probably benign	Het
Rasl10a	A	G	11: 5,059,431 (GRCm38)		probably null	Het
Rergl	T	C	6: 139,494,834 (GRCm38)	T106A	probably benign	Het
Rnf17	T	G	14: 56,483,380 (GRCm38)	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,593,967 (GRCm38)	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,872,969 (GRCm38)	M1V	probably null	Het
Rps6ka5	T	C	12: 100,619,615 (GRCm38)	T140A	possibly damaging	Het
Sbno2	T	A	10: 80,057,856 (GRCm38)	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,675,262 (GRCm38)	I68N	probably damaging	Het
Slc35a5	A	G	16: 45,144,265 (GRCm38)	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,760,946 (GRCm38)	S93W	probably damaging	Het
Smc1b	A	G	15: 85,121,851 (GRCm38)		probably benign	Het
Spag1	T	C	15: 36,227,141 (GRCm38)	L648P	probably damaging	Het
Tagap1	T	C	17: 6,956,703 (GRCm38)	D198G	probably benign	Het
Tedc2	T	C	17: 24,217,900 (GRCm38)	E287G	probably damaging	Het
Tjp1	C	A	7: 65,312,921 (GRCm38)	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446 (GRCm38)		probably benign	Het
Ttc38	T	A	15: 85,838,727 (GRCm38)	D125E	probably benign	Het
Uggt1	C	T	1: 36,192,414 (GRCm38)	R490Q	probably null	Het
Uroc1	T	G	6: 90,344,114 (GRCm38)	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,777,193 (GRCm38)	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,676,687 (GRCm38)	L99V	probably damaging	Het
Vps13c	C	T	9: 67,950,289 (GRCm38)	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830 (GRCm38)	L932P	probably damaging	Het

Other mutations in Golm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Golm1	APN	13	59,649,656 (GRCm38)	missense	probably damaging	0.99
IGL01327:Golm1	APN	13	59,645,144 (GRCm38)	missense	possibly damaging	0.95
IGL02348:Golm1	APN	13	59,638,377 (GRCm38)	missense	probably benign	0.00
R0047:Golm1	UTSW	13	59,645,100 (GRCm38)	missense	probably benign	0.03
R0047:Golm1	UTSW	13	59,645,100 (GRCm38)	missense	probably benign	0.03
R0458:Golm1	UTSW	13	59,664,364 (GRCm38)	missense	probably damaging	0.98
R0989:Golm1	UTSW	13	59,640,183 (GRCm38)	missense	probably benign	0.01
R1301:Golm1	UTSW	13	59,638,373 (GRCm38)	missense	probably damaging	0.99
R1804:Golm1	UTSW	13	59,642,389 (GRCm38)	critical splice acceptor site	probably null
R1905:Golm1	UTSW	13	59,642,251 (GRCm38)	missense	probably benign	0.04
R1940:Golm1	UTSW	13	59,642,237 (GRCm38)	splice site	probably benign
R2513:Golm1	UTSW	13	59,642,258 (GRCm38)	missense	probably benign	0.01
R2887:Golm1	UTSW	13	59,640,230 (GRCm38)	missense	probably benign	0.00
R3903:Golm1	UTSW	13	59,638,340 (GRCm38)	missense	probably damaging	1.00
R4154:Golm1	UTSW	13	59,642,353 (GRCm38)	missense	probably benign	0.01
R5580:Golm1	UTSW	13	59,642,365 (GRCm38)	missense	probably benign	0.03
R6193:Golm1	UTSW	13	59,645,158 (GRCm38)	missense	probably benign	0.00
R6418:Golm1	UTSW	13	59,665,561 (GRCm38)	missense	probably damaging	1.00
R6594:Golm1	UTSW	13	59,664,227 (GRCm38)	missense	possibly damaging	0.79
R6604:Golm1	UTSW	13	59,638,383 (GRCm38)	missense	probably damaging	1.00
R6967:Golm1	UTSW	13	59,649,576 (GRCm38)	small deletion	probably benign
R6968:Golm1	UTSW	13	59,649,576 (GRCm38)	small deletion	probably benign
R6991:Golm1	UTSW	13	59,649,576 (GRCm38)	small deletion	probably benign
R6992:Golm1	UTSW	13	59,649,576 (GRCm38)	small deletion	probably benign
R6993:Golm1	UTSW	13	59,649,576 (GRCm38)	small deletion	probably benign
R6996:Golm1	UTSW	13	59,642,244 (GRCm38)	missense	probably benign	0.00
R7576:Golm1	UTSW	13	59,645,106 (GRCm38)	missense	probably benign	0.00
R7692:Golm1	UTSW	13	59,640,257 (GRCm38)	missense	probably benign	0.08
R7863:Golm1	UTSW	13	59,649,569 (GRCm38)	missense	probably damaging	1.00
R7948:Golm1	UTSW	13	59,664,197 (GRCm38)	critical splice donor site	probably null
R9519:Golm1	UTSW	13	59,645,100 (GRCm38)	missense	probably benign
R9703:Golm1	UTSW	13	59,649,619 (GRCm38)	missense	probably benign	0.39
X0026:Golm1	UTSW	13	59,638,313 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTTGCTCTGTTGTACCACAG -3'
(R):5'- TTGAATGGTTGCAGATGGACAC -3'

Sequencing Primer
(F):5'- TGCTCTGTTGTACCACAGAGAAC -3'
(R):5'- TTGCAGATGGACACTTGCC -3'

Posted On

2014-09-18