Mutagenetix > Incidental Mutation

Incidental Mutation 'R7067:Golga1'

548605

Institutional Source

Beutler Lab

Gene Symbol

Golga1

Ensembl Gene

ENSMUSG00000026754

Gene Name

golgin A1

Synonyms

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

MMRRC Submission

045163-MU

Accession Numbers

Essential gene?

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

Stock #

R7067 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38906167-38955553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38937731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 104 (D104E)

Ref Sequence

ENSEMBL: ENSMUSP00000145206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039165] [ENSMUST00000112850] [ENSMUST00000149810] [ENSMUST00000184996]

AlphaFold

Q9CW79

Predicted Effect

probably benign
Transcript: ENSMUST00000039165
AA Change: D203E

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

SMART Domains

Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
AA Change: D203E

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: D178E

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

SMART Domains

Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
AA Change: D178E

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

probably benign
Transcript: ENSMUST00000149810
AA Change: D104E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000145206
Gene: ENSMUSG00000026754
AA Change: D104E

Domain	Start	End	E-Value	Type
coiled coil region	1	48	N/A	INTRINSIC
coiled coil region	70	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184996
AA Change: D203E

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

SMART Domains

Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
AA Change: D203E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 90,852,921 (GRCm39)	S72C	probably damaging	Het
Abca13	A	G	11: 9,241,845 (GRCm39)	D1236G	probably benign	Het
Abcc6	T	C	7: 45,668,114 (GRCm39)	N165D	probably benign	Het
Aebp1	A	G	11: 5,816,431 (GRCm39)		probably null	Het
Afg2a	C	T	3: 37,485,847 (GRCm39)	Q190*	probably null	Het
Anapc4	A	G	5: 53,019,577 (GRCm39)	T580A	probably benign	Het
Apob	T	C	12: 8,059,423 (GRCm39)	I2602T	probably damaging	Het
Arap2	A	G	5: 62,811,387 (GRCm39)		probably null	Het
Asap3	T	A	4: 135,968,673 (GRCm39)		probably null	Het
Bend4	A	G	5: 67,557,611 (GRCm39)	Y402H	probably damaging	Het
Ccn2	A	G	10: 24,472,873 (GRCm39)	Y261C	probably benign	Het
Crtc2	A	G	3: 90,167,489 (GRCm39)	N271S	probably benign	Het
Csf2rb2	A	T	15: 78,176,694 (GRCm39)	W233R	probably damaging	Het
Cyp2u1	G	A	3: 131,087,202 (GRCm39)	L460F	probably damaging	Het
Dnm3	A	G	1: 162,148,540 (GRCm39)	L277P	probably damaging	Het
Efemp1	A	T	11: 28,817,926 (GRCm39)	N135I	probably damaging	Het
Elapor2	G	T	5: 9,316,295 (GRCm39)	A9S	possibly damaging	Het
Fsip2	T	A	2: 82,811,078 (GRCm39)	S2466T	possibly damaging	Het
Gal3st2	C	T	1: 93,802,447 (GRCm39)	A276V	possibly damaging	Het
Gm47985	A	T	1: 151,059,241 (GRCm39)	D294V	unknown	Het
Hnrnpr	C	T	4: 136,054,704 (GRCm39)	A219V	probably damaging	Het
Hsd3b7	T	C	7: 127,399,888 (GRCm39)		probably null	Het
Hspa8	T	C	9: 40,715,921 (GRCm39)	I562T	probably damaging	Het
Htra4	C	T	8: 25,523,717 (GRCm39)	V283M	probably damaging	Het
Il36rn	C	T	2: 24,167,541 (GRCm39)	R11*	probably null	Het
Iqcd	A	G	5: 120,743,212 (GRCm39)	T325A	probably damaging	Het
Kif23	A	T	9: 61,832,271 (GRCm39)	M624K	probably benign	Het
Krt25	G	T	11: 99,208,209 (GRCm39)	Q340K	probably benign	Het
Lamp3	T	A	16: 19,518,413 (GRCm39)	N275Y	probably damaging	Het
Lpin2	A	C	17: 71,551,853 (GRCm39)	K789T	possibly damaging	Het
Mroh2b	T	C	15: 4,929,986 (GRCm39)	I24T	probably benign	Het
Muc16	T	A	9: 18,569,547 (GRCm39)	I991F	unknown	Het
Ntf5	T	A	7: 45,065,048 (GRCm39)	L60Q	probably damaging	Het
Nuak1	A	G	10: 84,276,158 (GRCm39)	S22P	possibly damaging	Het
Obox8	T	C	7: 14,066,979 (GRCm39)	T22A	possibly damaging	Het
Or8k21	T	A	2: 86,144,911 (GRCm39)	T240S	probably damaging	Het
Pde8a	T	C	7: 80,967,074 (GRCm39)	V405A	probably benign	Het
Phc2	T	C	4: 128,640,934 (GRCm39)	S147P	probably benign	Het
Pole	G	T	5: 110,482,084 (GRCm39)	G142V	probably damaging	Het
Poli	G	A	18: 70,642,488 (GRCm39)	Q508*	probably null	Het
Repin1	T	A	6: 48,574,850 (GRCm39)	L537*	probably null	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Samd7	G	C	3: 30,805,272 (GRCm39)	K18N	probably benign	Het
Slc30a2	T	A	4: 134,071,529 (GRCm39)		probably null	Het
Slit3	A	G	11: 35,399,057 (GRCm39)	S141G	probably benign	Het
Spon2	A	G	5: 33,371,958 (GRCm39)	S283P	probably damaging	Het
Srgap3	A	T	6: 112,734,266 (GRCm39)		probably benign	Het
Syde2	A	G	3: 145,694,019 (GRCm39)	D89G	probably benign	Het
Syne1	A	G	10: 5,184,586 (GRCm39)	I4099T	probably damaging	Het
Syt5	T	C	7: 4,546,075 (GRCm39)	D105G	probably benign	Het
Tlx3	C	T	11: 33,153,204 (GRCm39)	G86S	probably damaging	Het
Trim24	A	T	6: 37,934,775 (GRCm39)		probably null	Het
Umodl1	G	A	17: 31,201,246 (GRCm39)	V392I	probably damaging	Het
Unc80	C	A	1: 66,685,731 (GRCm39)	T2285K	possibly damaging	Het
Vars1	G	A	17: 35,230,455 (GRCm39)	V513I	probably damaging	Het
Vmn1r87	T	A	7: 12,865,849 (GRCm39)	Q146L	probably benign	Het
Vmn2r62	T	C	7: 42,414,302 (GRCm39)	I714V	probably benign	Het
Xbp1	T	A	11: 5,474,275 (GRCm39)	S159T	probably damaging	Het
Xrn1	T	A	9: 95,851,565 (GRCm39)	H194Q	probably damaging	Het
Zc3h4	A	T	7: 16,162,976 (GRCm39)	K459*	probably null	Het
Zdhhc6	G	A	19: 55,292,871 (GRCm39)	R292*	probably null	Het
Zfp383	T	A	7: 29,608,071 (GRCm39)	M1K	probably null	Het
Zfp703	A	G	8: 27,469,044 (GRCm39)	D236G	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
R6374:Golga1	UTSW	2	38,924,080 (GRCm39)	missense	probably benign
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
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'- GGGCTTTAGCAATGCTACACC -3'
(R):5'- GCCTAATTCTCATCCCACAAATATGTC -3'

Sequencing Primer
(F):5'- GCTTTAGCAATGCTACACCAACAC -3'
(R):5'- TCCTTACAGCATGGAATCCAGGG -3'

Posted On

2019-05-13