Mutagenetix > Incidental Mutations

Incidental Mutation 'R5580:Golm1'

438427

Institutional Source

Beutler Lab

Gene Symbol

Golm1

Ensembl Gene

ENSMUSG00000021556

Gene Name

golgi membrane protein 1

Synonyms

2310001L02Rik, GP73, PSEC0257, D030064E01Rik, Golph2

MMRRC Submission

043134-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5580 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59634626-59675811 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59642365 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 207 (L207P)

Ref Sequence

ENSEMBL: ENSMUSP00000093410 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022039
AA Change: L207P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022039
Gene: ENSMUSG00000021556
AA Change: L207P

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
AA Change: L207P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000093410
Gene: ENSMUSG00000021556
AA Change: L207P

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	T	13: 59,742,256	D583E	probably benign	Het
2410002F23Rik	A	G	7: 44,251,240	T73A	possibly damaging	Het
A1bg	A	T	15: 60,919,032	V365E	probably benign	Het
Abcg5	A	C	17: 84,660,154	V406G	probably damaging	Het
Adamts12	A	G	15: 11,152,000	Y192C	probably benign	Het
Add3	C	T	19: 53,245,211	S649L	probably damaging	Het
Adgrg6	A	T	10: 14,410,484	C1129*	probably null	Het
Arsb	T	A	13: 93,807,545	V248D	probably damaging	Het
AW554918	A	T	18: 25,339,865	N39I	probably damaging	Het
Cacna1b	A	T	2: 24,650,554	I1383N	probably damaging	Het
Caprin2	A	T	6: 148,858,734	V625D	possibly damaging	Het
Cd9	A	G	6: 125,464,457	L67P	probably damaging	Het
Cdh5	T	A	8: 104,125,494	Y80*	probably null	Het
Csf2ra	A	G	19: 61,226,217	L223P	probably damaging	Het
Cyp2c67	T	C	19: 39,615,650	K421E	probably damaging	Het
Dzank1	T	C	2: 144,506,178	R223G	probably damaging	Het
Emilin2	A	G	17: 71,275,230	V167A	probably benign	Het
Eps8l3	A	G	3: 107,881,603	T81A	probably damaging	Het
Esrra	T	C	19: 6,920,387	M1V	probably null	Het
Evpl	C	A	11: 116,234,232	A135S	probably benign	Het
Fam193a	A	G	5: 34,420,788	I209V	probably benign	Het
Fbxl19	C	A	7: 127,750,996	C253*	probably null	Het
Fer1l5	T	A	1: 36,385,458	Y305*	probably null	Het
Fzd2	A	C	11: 102,605,839	I370L	probably damaging	Het
Gm8882	T	C	6: 132,361,469	N262S	unknown	Het
Gnl3	T	C	14: 31,015,285	K212R	probably benign	Het
Gphn	T	A	12: 78,492,044	F155I	probably damaging	Het
Grhl1	G	A	12: 24,609,740	G500S	probably benign	Het
Gucd1	C	A	10: 75,511,134	G55V	possibly damaging	Het
Haus6	A	T	4: 86,599,266	I287K	possibly damaging	Het
Hmcn1	G	A	1: 150,577,539	P5342S	probably benign	Het
Hspa12a	A	G	19: 58,799,660	S577P	probably benign	Het
Ido2	T	A	8: 24,550,866	I113F	possibly damaging	Het
Ifrd2	C	T	9: 107,592,312	P396S	probably damaging	Het
Igkv4-86	T	A	6: 68,911,006		probably benign	Het
Ipo11	A	G	13: 106,900,747	V196A	probably benign	Het
Itih2	T	C	2: 10,123,476	E138G	probably damaging	Het
Kidins220	T	G	12: 25,047,897	C1179G	probably benign	Het
Kif20b	T	A	19: 34,949,728		probably null	Het
Klk1	T	A	7: 44,228,814	Y63N	probably benign	Het
L3mbtl3	T	G	10: 26,303,706	D517A	unknown	Het
Lars	G	T	18: 42,214,851	P969H	probably damaging	Het
Lrp1	C	T	10: 127,588,520	V766I	probably benign	Het
Lrrc8c	A	G	5: 105,607,687	I443V	probably benign	Het
Lsg1	T	C	16: 30,569,167	M439V	probably null	Het
Magi2	T	A	5: 20,215,424	M286K	probably benign	Het
Med11	T	C	11: 70,452,065		probably null	Het
Med13l	A	G	5: 118,751,630	K1819E	possibly damaging	Het
Ms4a14	T	A	19: 11,303,226	Q656L	probably benign	Het
Muc5b	A	G	7: 141,861,347	T2677A	possibly damaging	Het
Myo7a	A	T	7: 98,073,160	L1186H	probably damaging	Het
Naca	C	A	10: 128,040,593		probably benign	Het
Nbeal1	T	C	1: 60,242,602	I828T	probably benign	Het
Ncor1	A	T	11: 62,389,778	C75*	probably null	Het
Nepn	A	C	10: 52,404,302	S497R	probably damaging	Het
Nf2	A	G	11: 4,803,689	F222L	probably damaging	Het
Nlrp9b	A	C	7: 20,023,164	T109P	probably damaging	Het
Nr1h4	A	T	10: 89,516,440	F22I	probably benign	Het
Ogg1	A	G	6: 113,329,376	Y178C	probably damaging	Het
Olfr1162	A	T	2: 88,050,324	M100K	possibly damaging	Het
Olfr1271	C	A	2: 90,266,350	V27L	probably benign	Het
Olfr1444	G	A	19: 12,861,804	V10M	possibly damaging	Het
Olfr1475	T	A	19: 13,479,427	Y257F	probably damaging	Het
Olfr381	G	T	11: 73,486,210	P205T	probably benign	Het
Osr1	G	A	12: 9,579,325	R66Q	probably damaging	Het
Pi4ka	A	G	16: 17,281,087	S1978P	probably damaging	Het
Pik3c2g	A	T	6: 139,626,533	Q239L	probably damaging	Het
Pin1rt1	A	G	2: 104,714,325	I154T	probably damaging	Het
Pkdcc	A	G	17: 83,220,082	T230A	probably damaging	Het
Por	A	T	5: 135,733,821	I430F	probably damaging	Het
Prkcsh	T	A	9: 22,011,255		probably null	Het
Pros1	A	G	16: 62,926,326		probably null	Het
Pus10	T	A	11: 23,672,556	L59I	probably benign	Het
Pxmp2	A	G	5: 110,283,676	V67A	possibly damaging	Het
Rab3gap1	C	A	1: 127,930,990	A612E	probably benign	Het
Rpap2	A	G	5: 107,620,145	E206G	probably benign	Het
Rpl31	C	T	1: 39,370,027	R41C	probably benign	Het
Ryr3	C	T	2: 112,841,948	G1393R	probably damaging	Het
Scara5	T	C	14: 65,731,079	M267T	probably benign	Het
Sema5a	A	T	15: 32,574,885	I380F	probably benign	Het
Slc36a3	A	G	11: 55,135,453	S180P	probably benign	Het
Slc44a5	A	G	3: 154,261,285	K536R	probably benign	Het
Smg1	T	C	7: 118,148,902		probably benign	Het
Strc	T	C	2: 121,375,012	K879R	probably damaging	Het
Swt1	T	C	1: 151,384,455	E731G	probably benign	Het
Syngap1	G	A	17: 26,962,331	A9T	probably damaging	Het
Tex15	C	T	8: 33,572,429	T903I	probably damaging	Het
Tg	A	G	15: 66,685,300	I937V	possibly damaging	Het
Tm9sf4	T	C	2: 153,182,430	Y58H	probably damaging	Het
Tsen2	A	T	6: 115,577,980	D458V	probably damaging	Het
Ttn	T	A	2: 76,917,802	D4301V	probably benign	Het
Txk	C	A	5: 72,707,589	L314F	probably damaging	Het
Ube3b	A	G	5: 114,415,323	T919A	probably benign	Het
Ubn2	A	G	6: 38,483,252	M641V	probably damaging	Het
Usp4	C	T	9: 108,365,859	T242I	probably benign	Het
Usp53	A	G	3: 122,934,234	S900P	probably benign	Het
Vmn1r225	T	C	17: 20,502,839	Y181H	probably damaging	Het
Vmn1r83	T	A	7: 12,321,873	I86L	probably benign	Het
Vmn2r65	T	C	7: 84,947,594	I84M	probably damaging	Het
Vstm2b	A	G	7: 40,902,626	H126R	probably damaging	Het
Zfp524	A	T	7: 5,018,417	I315F	probably benign	Het
Zfp975	A	T	7: 42,665,089	L20*	probably null	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
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
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
X0026:Golm1	UTSW	13	59638313	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCACAATCAATTCTCAGTGTC -3'
(R):5'- TGAATGCTGTAGATACCTGGC -3'

Sequencing Primer
(F):5'- TCAGTGTCTGTACAGCCCAAG -3'
(R):5'- GCCTTACTTTCTGTAGGACCTGGAC -3'

Posted On

2016-10-26