Mutagenetix > Incidental Mutation

Incidental Mutation 'R9581:Golga1'

722521

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

Accession Numbers

Essential gene?

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

Stock #

R9581 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39016155-39065541 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39019561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 677 (D677E)

Ref Sequence

ENSEMBL: ENSMUSP00000037735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039165] [ENSMUST00000090993] [ENSMUST00000112850] [ENSMUST00000112862] [ENSMUST00000184996]

AlphaFold

Q9CW79

Predicted Effect

probably damaging
Transcript: ENSMUST00000039165
AA Change: D677E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
AA Change: D677E

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: ENSMUST00000090993

SMART Domains

Protein: ENSMUSP00000088516
Gene: ENSMUSG00000026755

Domain	Start	End	E-Value	Type
Pfam:P16-Arc	8	153	4.6e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112850
AA Change: D652E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
AA Change: D652E

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: ENSMUST00000112862

SMART Domains

Protein: ENSMUSP00000108483
Gene: ENSMUSG00000026755

Domain	Start	End	E-Value	Type
Pfam:P16-Arc	9	153	2.4e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153914

Predicted Effect

probably benign
Transcript: ENSMUST00000154210

Predicted Effect

probably damaging
Transcript: ENSMUST00000184996
AA Change: D677E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
AA Change: D677E

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: 99.0%

Validation Efficiency

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
Abcb1a	T	G	5: 8,740,428	I1097R	possibly damaging	Het
Abcd4	A	G	12: 84,603,988	S533P	probably damaging	Het
Adat1	C	T	8: 111,979,314	V387I	probably benign	Het
Aff3	T	A	1: 38,210,185	T614S	probably benign	Het
Aldh1a1	T	A	19: 20,620,053	C133S	probably benign	Het
Ankrd12	A	G	17: 65,983,420	S1673P	probably damaging	Het
Aox2	T	A	1: 58,330,896		probably null	Het
Arsi	A	G	18: 60,917,088	T348A	probably damaging	Het
Baz2b	T	C	2: 59,968,956	R275G	probably benign	Het
Cdh2	T	A	18: 16,670,055		probably benign	Het
Cela1	C	T	15: 100,675,380	A243T	probably benign	Het
Cep192	G	T	18: 67,847,394	V1409F	probably damaging	Het
Chia1	T	C	3: 106,128,563	Y240H	possibly damaging	Het
Dact1	A	T	12: 71,318,845	K763M	probably damaging	Het
Dip2b	C	A	15: 100,181,374	N822K	probably damaging	Het
Dnah12	C	T	14: 26,770,028	T1140I	probably damaging	Het
Drc7	T	C	8: 95,059,154	S213P	probably damaging	Het
Ell2	A	G	13: 75,764,029	D478G	probably benign	Het
Evpl	G	A	11: 116,229,834	T483M	probably benign	Het
Farp1	A	T	14: 121,243,429	E414V	probably benign	Het
Fbxl17	A	G	17: 63,499,530	V163A	probably benign	Het
Foxn3	C	T	12: 99,196,776	E289K	probably damaging	Het
Fscb	T	A	12: 64,474,348	I115F	probably benign	Het
Gm14496	A	T	2: 182,000,254	T573S	probably benign	Het
Herc6	A	T	6: 57,658,116	K772N	probably damaging	Het
Ikbkb	T	C	8: 22,665,559	D639G	probably damaging	Het
Lrrc61	G	A	6: 48,568,719	V159I	possibly damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mib1	A	G	18: 10,775,701	D551G	possibly damaging	Het
Muc5ac	G	T	7: 141,810,062	R2370L	unknown	Het
Mybpc3	A	G	2: 91,119,271	D53G	probably benign	Het
Myo9b	C	T	8: 71,359,899	P2105S	probably benign	Het
Naip5	G	T	13: 100,214,686	H1271Q	probably benign	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nmt2	T	C	2: 3,316,175	V340A	possibly damaging	Het
Nos1	A	G	5: 117,905,394	E578G	probably damaging	Het
Nox3	G	A	17: 3,650,053	R462W	possibly damaging	Het
Olfr243	A	G	7: 103,716,581		probably benign	Het
Olfr63	C	A	17: 33,269,021	A99D	probably damaging	Het
Pcdhgc4	A	G	18: 37,817,136	Q535R	probably benign	Het
Pcsk5	T	C	19: 17,454,832	D1473G	probably benign	Het
Pdilt	A	T	7: 119,500,410	F212I	probably damaging	Het
Ptk2b	A	T	14: 66,213,340	V59D	probably damaging	Het
Ptprf	T	C	4: 118,235,060	D571G	probably benign	Het
Ptprq	A	T	10: 107,711,910	V209E	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,918		probably benign	Het
Schip1	TCTGGCC	TC	3: 68,617,727		probably null	Het
Sec16a	C	T	2: 26,438,635	V142I		Het
Slamf6	A	G	1: 171,934,330	Y106C		Het
Strc	A	G	2: 121,377,447	V481A	probably damaging	Het
Sulf1	A	T	1: 12,805,254	I163F	possibly damaging	Het
Tjp1	A	G	7: 65,299,724	S1637P	probably damaging	Het
Tlr9	A	G	9: 106,224,311	E267G	probably damaging	Het
Tmem117	T	A	15: 95,094,387	F309L	probably benign	Het
Tmtc4	T	C	14: 122,950,586	N196S	probably benign	Het
Trim16	T	A	11: 62,836,731	I293K	probably damaging	Het
Trim7	T	C	11: 48,848,060	V95A	probably damaging	Het
Ttll6	A	T	11: 96,158,746	K763N	probably benign	Het
Tut1	T	C	19: 8,964,617	S483P	probably benign	Het
Zfp101	A	T	17: 33,386,756	L26*	probably null	Het
Zfp106	C	T	2: 120,535,326	R155K		Het
Zfp518a	T	A	19: 40,911,712	D28E	probably damaging	Het
Zfp90	T	A	8: 106,425,082	S476T	probably benign	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
R0245:Golga1	UTSW	2	39035259	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
X0025:Golga1	UTSW	2	39052062	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCACTTCCCATCATGATCTG -3'
(R):5'- CAATATATGATCTCTGCTGGGGC -3'

Sequencing Primer
(F):5'- TGCTCAGCAGGTCAGTACTG -3'
(R):5'- CTGGAGAATCCCTGTGATCCTAGAC -3'

Posted On

2022-08-09