Mutagenetix > Incidental Mutation

Incidental Mutation 'R0245:Golga1'

36140

Institutional Source

Beutler Lab

Gene Symbol

Golga1

Ensembl Gene

ENSMUSG00000026754

Gene Name

golgi autoantigen, golgin subfamily a, 1

Synonyms

0710001G09Rik, Golgi97, golgin-97, 2210418B03Rik

MMRRC Submission

038483-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R0245 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

39016155-39065541 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39035259 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 351 (V351A)

Ref Sequence

ENSEMBL: ENSMUSP00000108471 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039165] [ENSMUST00000112850] [ENSMUST00000184996]

AlphaFold

Q9CW79

Predicted Effect

probably benign
Transcript: ENSMUST00000039165
AA Change: V376A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
AA Change: V376A

Domain	Start	End	E-Value	Type
coiled coil region	51	104	N/A	INTRINSIC
coiled coil region	126	169	N/A	INTRINSIC
coiled coil region	190	555	N/A	INTRINSIC
coiled coil region	599	647	N/A	INTRINSIC
Grip	682	728	5.68e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112850
AA Change: V351A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
AA Change: V351A

Domain	Start	End	E-Value	Type
coiled coil region	53	144	N/A	INTRINSIC
coiled coil region	165	530	N/A	INTRINSIC
coiled coil region	574	622	N/A	INTRINSIC
Grip	657	703	5.68e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126520

Predicted Effect

probably benign
Transcript: ENSMUST00000153914

Predicted Effect

probably benign
Transcript: ENSMUST00000184996
AA Change: V376A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
AA Change: V376A

Domain	Start	End	E-Value	Type
coiled coil region	51	104	N/A	INTRINSIC
coiled coil region	126	169	N/A	INTRINSIC
coiled coil region	190	555	N/A	INTRINSIC
coiled coil region	599	647	N/A	INTRINSIC
Grip	682	728	5.68e-18	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.9%

Validation Efficiency

99% (73/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein is associated with Sjogren's syndrome. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mice exhibit tremors and limb grasping behavior at two months of age. A variable severity of hearing loss was also seen. [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
2310022B05Rik	A	G	8: 124,651,429		probably benign	Het
Adgrg6	T	A	10: 14,458,066		probably benign	Het
Adra2a	G	C	19: 54,047,409	V399L	probably damaging	Het
Arpc1b	A	G	5: 145,126,860	D306G	probably damaging	Het
Asic3	C	A	5: 24,413,838	R43S	probably damaging	Het
Astn2	T	C	4: 65,794,558	D615G	probably damaging	Het
BC024978	T	A	7: 27,200,603	C98S	possibly damaging	Het
Btbd2	A	T	10: 80,647,806	Y178N	probably damaging	Het
Cacna1c	T	C	6: 118,604,454	N1647D	probably benign	Het
Cacna2d4	A	T	6: 119,308,721	D803V	probably damaging	Het
Ccdc129	A	G	6: 55,898,007	E314G	probably damaging	Het
Cdh26	C	T	2: 178,481,632	R675C	possibly damaging	Het
Cdx2	C	A	5: 147,306,473	K170N	possibly damaging	Het
Cmpk2	A	T	12: 26,469,518	D56V	probably benign	Het
Dnah7a	T	C	1: 53,501,526	Y2563C	probably damaging	Het
Dock7	T	C	4: 99,055,349	D552G	possibly damaging	Het
E2f7	C	A	10: 110,774,795	S427*	probably null	Het
Eps8	T	C	6: 137,479,128	D785G	probably benign	Het
Ereg	G	A	5: 91,074,800	C14Y	possibly damaging	Het
Fah	A	C	7: 84,595,498	H222Q	probably benign	Het
Fbxw16	T	A	9: 109,436,168	S432C	possibly damaging	Het
Fdps	A	G	3: 89,093,771	S334P	possibly damaging	Het
Fgf7	A	G	2: 126,035,955	K81E	probably benign	Het
Gfra1	T	C	19: 58,300,554	N153S	possibly damaging	Het
Gm12355	T	A	11: 98,625,241		probably benign	Het
Got1	A	T	19: 43,504,507		probably benign	Het
Greb1	T	C	12: 16,696,456	Y1271C	probably damaging	Het
Gtf3c4	A	G	2: 28,834,964	I252T	possibly damaging	Het
Gucy1a1	A	G	3: 82,108,787	I298T	possibly damaging	Het
Hivep1	A	G	13: 42,164,290	I2081V	possibly damaging	Het
Hps3	A	T	3: 20,012,796	C535*	probably null	Het
Hspg2	T	C	4: 137,514,722	F589S	probably damaging	Het
Itgb8	T	A	12: 119,190,555	N249I	probably damaging	Het
Kdm4a	T	C	4: 118,175,689	D60G	probably benign	Het
Kng2	A	T	16: 23,012,181		probably benign	Het
March4	A	T	1: 72,534,781	D119E	probably benign	Het
Mrpl34	T	C	8: 71,465,075		probably benign	Het
Ncoa6	C	T	2: 155,391,211	G2059D	probably benign	Het
Nhsl1	A	G	10: 18,525,108	K660R	probably damaging	Het
Nr2c2ap	T	C	8: 70,131,578	V6A	possibly damaging	Het
Olfr1209	C	A	2: 88,909,875	D173Y	possibly damaging	Het
Olfr1302	A	G	2: 111,780,335	N5S	probably damaging	Het
Olfr1404	T	A	1: 173,215,957	I102N	possibly damaging	Het
Olfr177	A	T	16: 58,872,866	Y95N	probably benign	Het
Olfr853	C	A	9: 19,537,112	V273L	probably benign	Het
Oscar	C	T	7: 3,611,574		probably benign	Het
Pkhd1	T	C	1: 20,540,400	S1046G	probably benign	Het
Ptk6	T	C	2: 181,202,491	D5G	probably benign	Het
Rgs12	A	G	5: 35,030,080	H486R	probably benign	Het
Rnf111	C	T	9: 70,453,831		probably benign	Het
Rnf17	A	G	14: 56,438,609	Y309C	probably damaging	Het
Rnf19a	A	T	15: 36,253,032	I387N	probably damaging	Het
Safb	C	T	17: 56,606,025	R914C	probably damaging	Het
Sdk1	A	G	5: 141,954,958	T494A	probably benign	Het
Serac1	G	T	17: 6,051,756	D384E	probably damaging	Het
Sez6l	T	C	5: 112,475,566	M40V	probably benign	Het
Slc17a5	A	G	9: 78,540,924	I416T	probably benign	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Spata32	C	T	11: 103,209,095	A195T	probably damaging	Het
Srrd	A	G	5: 112,337,528		probably benign	Het
Supt3	T	C	17: 45,036,775	V208A	probably benign	Het
Taok3	G	A	5: 117,252,679		probably benign	Het
Tbxas1	G	T	6: 39,027,768	R316S	probably benign	Het
Tgfbrap1	A	T	1: 43,075,592	I116N	possibly damaging	Het
Tm7sf3	T	C	6: 146,618,609	T260A	possibly damaging	Het
Top2a	T	C	11: 99,010,096	I556V	probably benign	Het
Uroc1	A	G	6: 90,344,197	M252V	probably damaging	Het
Xpo4	G	T	14: 57,630,240	H183Q	probably damaging	Het
Zcchc17	T	A	4: 130,337,154	I81L	probably benign	Het
Zfp455	A	T	13: 67,207,835	Y389F	probably damaging	Het

Other mutations in Golga1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Golga1	APN	2	39052973	nonsense	probably null
IGL00949:Golga1	APN	2	39041255	missense	probably damaging	0.98
IGL01133:Golga1	APN	2	39023472	missense	probably benign
IGL01592:Golga1	APN	2	39063282	missense	probably damaging	1.00
IGL01613:Golga1	APN	2	39020126	missense	probably benign	0.14
IGL01819:Golga1	APN	2	39034149	missense	probably benign	0.00
IGL01871:Golga1	APN	2	39050198	splice site	probably benign
IGL02744:Golga1	APN	2	39018474	missense	probably damaging	1.00
IGL02819:Golga1	APN	2	39039078	missense	probably null	0.97
IGL02874:Golga1	APN	2	39039092	missense	probably damaging	1.00
R0167:Golga1	UTSW	2	39047648	missense	probably benign	0.00
R0389:Golga1	UTSW	2	39018441	missense	probably damaging	1.00
R0443:Golga1	UTSW	2	39018441	missense	probably damaging	1.00
R0906:Golga1	UTSW	2	39047643	missense	probably damaging	0.99
R1508:Golga1	UTSW	2	39023249	missense	probably benign
R1901:Golga1	UTSW	2	39047780	splice site	probably null
R1964:Golga1	UTSW	2	39047087	missense	probably benign	0.00
R2228:Golga1	UTSW	2	39023171	missense	probably benign	0.02
R3734:Golga1	UTSW	2	39050170	missense	possibly damaging	0.88
R4407:Golga1	UTSW	2	39019641	splice site	probably null
R4504:Golga1	UTSW	2	39023454	missense	probably benign	0.00
R4973:Golga1	UTSW	2	39039106	missense	probably damaging	0.99
R5049:Golga1	UTSW	2	39047735	missense	probably damaging	1.00
R5600:Golga1	UTSW	2	39020099	missense	probably damaging	1.00
R6008:Golga1	UTSW	2	39047087	missense	probably benign	0.00
R6374:Golga1	UTSW	2	39034068	missense	probably benign
R6388:Golga1	UTSW	2	39023171	missense	probably benign	0.02
R6601:Golga1	UTSW	2	39020106	missense	probably damaging	1.00
R7067:Golga1	UTSW	2	39047719	missense	probably benign	0.00
R7816:Golga1	UTSW	2	39052098	missense	probably damaging	1.00
R9277:Golga1	UTSW	2	39024243	missense	probably benign	0.19
R9581:Golga1	UTSW	2	39019561	missense	probably damaging	1.00
X0025:Golga1	UTSW	2	39052062	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCTATGCTCACCTCGTCTACTGAA -3'
(R):5'- ccccTGTCATCCCCTCCCCT -3'

Sequencing Primer
(F):5'- tgggattaatggatattgccataag -3'
(R):5'- GTCATCCCCTCCCCTTTTTGAG -3'

Posted On

2013-05-09