Mutagenetix > Incidental Mutation

Incidental Mutation 'R6374:Golga1'

513663

Institutional Source

Beutler Lab

Gene Symbol

Golga1

Ensembl Gene

ENSMUSG00000026754

Gene Name

golgin A1

Synonyms

Golgi97, golgin-97, 0710001G09Rik, awag, 2210418B03Rik

MMRRC Submission

044524-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R6374 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38906167-38955553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38924080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 435 (Q435R)

Ref Sequence

ENSEMBL: ENSMUSP00000139001 (fasta)

Gene Model

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

AlphaFold

Q9CW79

Predicted Effect

probably benign
Transcript: ENSMUST00000039165
AA Change: Q435R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
AA Change: Q435R

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: Q410R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
AA Change: Q410R

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: Q435R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
AA Change: Q435R

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

99% (75/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,800 (GRCm39)	S293A	possibly damaging	Het
5430401F13Rik	A	T	6: 131,529,892 (GRCm39)	Q162L	unknown	Het
Abca8a	A	T	11: 109,974,216 (GRCm39)	Y239*	probably null	Het
Aox3	T	C	1: 58,211,320 (GRCm39)	I959T	probably benign	Het
Atad2b	T	C	12: 5,068,002 (GRCm39)	V1000A	probably damaging	Het
Atic	C	T	1: 71,604,100 (GRCm39)	T221M	probably damaging	Het
Atp1a2	C	T	1: 172,116,942 (GRCm39)	R225H	probably damaging	Het
BC024139	A	G	15: 76,004,657 (GRCm39)		probably null	Het
Bpi	A	T	2: 158,113,974 (GRCm39)	T291S	probably damaging	Het
Ccdc170	C	T	10: 4,499,746 (GRCm39)	Q556*	probably null	Het
Cd3e	G	A	9: 44,920,661 (GRCm39)	L12F	probably benign	Het
Cdc42ep1	A	T	15: 78,731,649 (GRCm39)	R31S	probably damaging	Het
Cyp21a1	G	T	17: 35,023,110 (GRCm39)		probably null	Het
Dnase1l3	A	G	14: 7,974,115 (GRCm38)	M192T	probably damaging	Het
Dnmt1	A	T	9: 20,835,341 (GRCm39)	H330Q	possibly damaging	Het
Enah	T	C	1: 181,751,145 (GRCm39)	E232G	unknown	Het
Etnppl	C	T	3: 130,414,342 (GRCm39)	T73I	probably damaging	Het
Fam83b	T	A	9: 76,400,189 (GRCm39)	I305F	probably benign	Het
Galnt15	T	A	14: 31,780,116 (GRCm39)	I471N	probably damaging	Het
Gm19965	T	A	1: 116,750,021 (GRCm39)	N567K	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hao1	T	G	2: 134,365,024 (GRCm39)	D201A	probably benign	Het
Heg1	T	C	16: 33,547,499 (GRCm39)	L786P	possibly damaging	Het
Hnrnpll	A	T	17: 80,357,303 (GRCm39)	C238S	possibly damaging	Het
Hrg	A	G	16: 22,779,742 (GRCm39)	Y340C	probably damaging	Het
Kyat3	A	T	3: 142,443,998 (GRCm39)	I411F	probably damaging	Het
Myo1a	T	C	10: 127,543,549 (GRCm39)	Y202H	probably damaging	Het
Nags	T	C	11: 102,037,337 (GRCm39)	C143R	possibly damaging	Het
Ncoa6	T	C	2: 155,263,076 (GRCm39)	N453D	probably damaging	Het
Nup35	G	T	2: 80,488,730 (GRCm39)	M322I	probably benign	Het
Oprl1	T	C	2: 181,357,721 (GRCm39)	V69A	probably damaging	Het
Or51v14	A	G	7: 103,261,128 (GRCm39)	L144P	probably benign	Het
Pappa2	T	A	1: 158,784,215 (GRCm39)	Y265F	probably damaging	Het
Pcsk6	C	T	7: 65,629,903 (GRCm39)	P343L	possibly damaging	Het
Peak1	C	A	9: 56,164,950 (GRCm39)	D993Y	probably damaging	Het
Polr2a	T	C	11: 69,627,758 (GRCm39)	Y1383C	probably damaging	Het
Ppme1	A	G	7: 99,990,272 (GRCm39)	S226P	probably damaging	Het
Prom1	C	T	5: 44,213,325 (GRCm39)	C127Y	probably damaging	Het
Ptpn6	A	T	6: 124,709,532 (GRCm39)		probably null	Het
Reln	T	C	5: 22,285,712 (GRCm39)	E419G	probably benign	Het
Rnf32	C	T	5: 29,430,266 (GRCm39)	Q362*	probably null	Het
Sbspon	T	C	1: 15,953,887 (GRCm39)	D131G	probably benign	Het
Scyl3	T	C	1: 163,776,783 (GRCm39)	S392P	probably benign	Het
Shtn1	T	A	19: 59,026,728 (GRCm39)	D121V	possibly damaging	Het
Sin3a	A	G	9: 57,024,765 (GRCm39)	T1042A	probably benign	Het
Sipa1l2	A	T	8: 126,171,369 (GRCm39)	V1371D	probably damaging	Het
Slc20a2	T	C	8: 23,055,668 (GRCm39)	V584A	possibly damaging	Het
Smc6	T	A	12: 11,355,874 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,124,731 (GRCm39)		probably benign	Het
Specc1	C	T	11: 62,047,418 (GRCm39)	T849I	possibly damaging	Het
Spta1	T	A	1: 174,041,734 (GRCm39)	L1368H	probably damaging	Het
Sqle	A	G	15: 59,187,959 (GRCm39)	E89G	possibly damaging	Het
Strbp	A	G	2: 37,493,020 (GRCm39)	V422A	probably damaging	Het
Sult6b1	G	T	17: 79,214,360 (GRCm39)	T21K	probably benign	Het
Tex15	A	G	8: 34,065,940 (GRCm39)	E1790G	probably damaging	Het
Tmem88b	T	A	4: 155,870,221 (GRCm39)		probably benign	Het
Traf3ip3	T	C	1: 192,864,318 (GRCm39)	D355G	possibly damaging	Het
Trim24	T	A	6: 37,930,484 (GRCm39)	V576E	probably benign	Het
Trim30c	C	T	7: 104,039,609 (GRCm39)	G62D	probably benign	Het
Trim66	T	G	7: 109,085,269 (GRCm39)	K100N	probably benign	Het
Tsnaxip1	A	T	8: 106,568,172 (GRCm39)	T313S	possibly damaging	Het
Ugt2b37	A	T	5: 87,390,279 (GRCm39)	I389N	probably damaging	Het
Unc13a	C	T	8: 72,094,097 (GRCm39)	V1335M	possibly damaging	Het
Urah	A	G	7: 140,415,124 (GRCm39)	T5A	probably benign	Het
Usp34	T	C	11: 23,388,914 (GRCm39)	Y2185H	probably damaging	Het
Usp44	T	C	10: 93,692,172 (GRCm39)	S643P	probably benign	Het
Vars2	A	G	17: 35,970,937 (GRCm39)	V631A	probably damaging	Het
Vmn2r11	G	A	5: 109,201,679 (GRCm39)	T275I	possibly damaging	Het
Vmn2r54	C	A	7: 12,349,420 (GRCm39)	V721F	probably damaging	Het
Vmn2r79	T	C	7: 86,651,498 (GRCm39)	I299T	probably benign	Het
Vps13d	T	C	4: 144,849,251 (GRCm39)	T2387A	probably damaging	Het
Washc5	A	T	15: 59,209,044 (GRCm39)	L610Q	probably benign	Het
Zbtb21	T	C	16: 97,751,568 (GRCm39)	E905G	probably damaging	Het
Zfhx4	A	G	3: 5,309,095 (GRCm39)	T774A	probably damaging	Het
Zfp534	T	C	4: 147,759,299 (GRCm39)	I457V	probably benign	Het
Zfp964	T	C	8: 70,111,994 (GRCm39)	Y29H	possibly damaging	Het
Znrf4	A	G	17: 56,818,702 (GRCm39)	F202L	probably damaging	Het

Other mutations in Golga1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Golga1	APN	2	38,942,985 (GRCm39)	nonsense	probably null
IGL00949:Golga1	APN	2	38,931,267 (GRCm39)	missense	probably damaging	0.98
IGL01133:Golga1	APN	2	38,913,484 (GRCm39)	missense	probably benign
IGL01592:Golga1	APN	2	38,953,294 (GRCm39)	missense	probably damaging	1.00
IGL01613:Golga1	APN	2	38,910,138 (GRCm39)	missense	probably benign	0.14
IGL01819:Golga1	APN	2	38,924,161 (GRCm39)	missense	probably benign	0.00
IGL01871:Golga1	APN	2	38,940,210 (GRCm39)	splice site	probably benign
IGL02744:Golga1	APN	2	38,908,486 (GRCm39)	missense	probably damaging	1.00
IGL02819:Golga1	APN	2	38,929,090 (GRCm39)	missense	probably null	0.97
IGL02874:Golga1	APN	2	38,929,104 (GRCm39)	missense	probably damaging	1.00
R0167:Golga1	UTSW	2	38,937,660 (GRCm39)	missense	probably benign	0.00
R0245:Golga1	UTSW	2	38,925,271 (GRCm39)	missense	probably benign	0.00
R0389:Golga1	UTSW	2	38,908,453 (GRCm39)	missense	probably damaging	1.00
R0443:Golga1	UTSW	2	38,908,453 (GRCm39)	missense	probably damaging	1.00
R0906:Golga1	UTSW	2	38,937,655 (GRCm39)	missense	probably damaging	0.99
R1508:Golga1	UTSW	2	38,913,261 (GRCm39)	missense	probably benign
R1901:Golga1	UTSW	2	38,937,792 (GRCm39)	splice site	probably null
R1964:Golga1	UTSW	2	38,937,099 (GRCm39)	missense	probably benign	0.00
R2228:Golga1	UTSW	2	38,913,183 (GRCm39)	missense	probably benign	0.02
R3734:Golga1	UTSW	2	38,940,182 (GRCm39)	missense	possibly damaging	0.88
R4407:Golga1	UTSW	2	38,909,653 (GRCm39)	splice site	probably null
R4504:Golga1	UTSW	2	38,913,466 (GRCm39)	missense	probably benign	0.00
R4973:Golga1	UTSW	2	38,929,118 (GRCm39)	missense	probably damaging	0.99
R5049:Golga1	UTSW	2	38,937,747 (GRCm39)	missense	probably damaging	1.00
R5600:Golga1	UTSW	2	38,910,111 (GRCm39)	missense	probably damaging	1.00
R6008:Golga1	UTSW	2	38,937,099 (GRCm39)	missense	probably benign	0.00
R6388:Golga1	UTSW	2	38,913,183 (GRCm39)	missense	probably benign	0.02
R6601:Golga1	UTSW	2	38,910,118 (GRCm39)	missense	probably damaging	1.00
R7067:Golga1	UTSW	2	38,937,731 (GRCm39)	missense	probably benign	0.00
R7816:Golga1	UTSW	2	38,942,110 (GRCm39)	missense	probably damaging	1.00
R9277:Golga1	UTSW	2	38,914,255 (GRCm39)	missense	probably benign	0.19
R9581:Golga1	UTSW	2	38,909,573 (GRCm39)	missense	probably damaging	1.00
X0025:Golga1	UTSW	2	38,942,074 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTGTCCCTGTGGTGAAC -3'
(R):5'- CAGCTTGCCTCTGAAATCTTTG -3'

Sequencing Primer
(F):5'- CTGCTGTGCATCTCTGTAAAGAGAAG -3'
(R):5'- CTGAAATCTTTGTGTCTTCCATTAAC -3'

Posted On

2018-04-27