Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Golga1'

212181

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

039921-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R1901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39016155-39065541 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 39047780 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145206 (fasta)

Gene Model

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

AlphaFold

Q9CW79

Predicted Effect

probably null
Transcript: ENSMUST00000039165

SMART Domains

Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754

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 null
Transcript: ENSMUST00000112850

SMART Domains

Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754

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

noncoding transcript
Transcript: ENSMUST00000136261

Predicted Effect

probably null
Transcript: ENSMUST00000149810

SMART Domains

Protein: ENSMUSP00000145206
Gene: ENSMUSG00000026754

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 null
Transcript: ENSMUST00000149810

SMART Domains

Protein: ENSMUSP00000145206
Gene: ENSMUSG00000026754

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: ENSMUST00000153914

Predicted Effect

probably benign
Transcript: ENSMUST00000184996

SMART Domains

Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754

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: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,346,099	E466G	probably damaging	Het
Acacb	A	T	5: 114,165,734	R73*	probably null	Het
Acta1	A	T	8: 123,893,161	S147T	probably benign	Het
Adh1	G	A	3: 138,288,797	V293I	probably benign	Het
Aldh3b3	T	C	19: 3,965,130	Y170H	probably damaging	Het
Ank3	A	T	10: 69,822,337	T198S	probably damaging	Het
Ankrd12	A	T	17: 65,986,703	N578K	possibly damaging	Het
Ano2	A	T	6: 125,872,684	E126D	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arhgef7	C	A	8: 11,808,713		probably null	Het
Cfap44	A	C	16: 44,422,374	T714P	probably benign	Het
Cnot1	T	C	8: 95,743,121	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,536,997	I88K	unknown	Het
Col1a1	G	A	11: 94,946,632		probably null	Het
Col5a1	A	G	2: 27,960,444	T518A	unknown	Het
Cul7	T	C	17: 46,655,740	L365P	probably damaging	Het
Dlec1	T	C	9: 119,102,644	S44P	probably damaging	Het
Dock9	T	C	14: 121,625,153		probably null	Het
Flrt2	C	A	12: 95,779,130	P81T	probably damaging	Het
Flrt2	C	T	12: 95,779,131	P81L	probably damaging	Het
Ginm1	A	G	10: 7,775,216		probably null	Het
Glis3	T	C	19: 28,531,585	N333S	probably damaging	Het
Glo1	T	G	17: 30,596,408	E144D	probably benign	Het
H2-Aa	A	G	17: 34,283,233	I155T	possibly damaging	Het
Haus5	A	G	7: 30,657,245	S479P	probably damaging	Het
Il10ra	A	T	9: 45,256,356	V299D	probably benign	Het
Il17re	T	C	6: 113,469,704	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,750,908	Q430L	probably damaging	Het
Il23r	A	C	6: 67,423,734	D537E	probably benign	Het
Inppl1	T	C	7: 101,823,377	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,470,220	L304P	probably damaging	Het
Krt78	A	T	15: 101,946,963	C804*	probably null	Het
Lrrc29	T	C	8: 105,313,075	N556S	probably damaging	Het
Med15	G	T	16: 17,673,154		probably benign	Het
Mettl25	A	G	10: 105,826,087	S341P	probably damaging	Het
Mroh1	A	G	15: 76,436,049	T1008A	probably benign	Het
Mug1	A	G	6: 121,881,821	D1166G	probably benign	Het
Mug2	C	A	6: 122,071,842	H856N	probably benign	Het
Naca	T	A	10: 128,043,721		probably benign	Het
Nagk	G	T	6: 83,799,354	V184F	probably damaging	Het
Nav1	T	G	1: 135,472,410	N474T	probably benign	Het
Ncor2	T	A	5: 125,025,425	H2089L	probably benign	Het
Nek6	A	G	2: 38,582,446	I261V	probably damaging	Het
Neurod2	G	A	11: 98,327,732	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,825,900	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,423,910	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,313,671	V340D	probably damaging	Het
Ntn4	A	G	10: 93,707,372	D320G	possibly damaging	Het
Olfr119	T	A	17: 37,701,421	H250Q	probably damaging	Het
Olfr209	A	T	16: 59,362,163	D18E	probably benign	Het
Olfr417	A	T	1: 174,369,168	I84L	probably benign	Het
Olfr625-ps1	T	C	7: 103,683,543	I265T	probably damaging	Het
Olfr685	A	G	7: 105,180,872	I162T	possibly damaging	Het
Osbpl5	T	C	7: 143,703,181	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,437,630	W610R	possibly damaging	Het
Pias2	T	A	18: 77,097,443	C66*	probably null	Het
Plec	T	A	15: 76,175,551	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,937,781		probably benign	Het
Ppp1r12a	T	A	10: 108,198,891	I99N	probably damaging	Het
Prpf8	T	G	11: 75,504,744	V1899G	probably damaging	Het
Prr13	C	A	15: 102,460,698		probably benign	Het
Ptchd4	A	T	17: 42,503,616	I803L	probably benign	Het
R3hdm2	T	C	10: 127,498,468	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,371,451	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 180,283,313	R33Q	probably damaging	Het
Robo1	A	G	16: 72,960,204	Q351R	probably null	Het
Rptn	A	T	3: 93,396,710	H450L	possibly damaging	Het
Scn11a	T	A	9: 119,779,036	K1010*	probably null	Het
Slc16a10	G	A	10: 40,056,606	Q33*	probably null	Het
Slc31a1	C	T	4: 62,385,605		probably benign	Het
Slc34a1	A	T	13: 55,401,150	K138*	probably null	Het
Slc6a18	T	A	13: 73,670,043	E285V	probably benign	Het
Slco6c1	T	A	1: 97,072,982	T515S	probably damaging	Het
Snrnp40	T	A	4: 130,385,975	S295T	probably damaging	Het
Snx4	A	T	16: 33,284,438	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,671,139	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,377	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,910,176	F176L	probably benign	Het
Tcp10b	A	G	17: 13,081,626	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,317,724	H53R	probably damaging	Het
Tnrc6c	A	G	11: 117,723,005	K823R	probably damaging	Het
Trim31	A	G	17: 36,901,800	E221G	probably benign	Het
Trim47	T	A	11: 116,107,779	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,116,241	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371		probably null	Het
Utp20	G	T	10: 88,753,026	T2427K	probably benign	Het
Vldlr	T	C	19: 27,241,309	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,844,273	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,808,793	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,224,286	S19P	possibly damaging	Het
Vwa5b2	G	T	16: 20,604,832	S1165I	possibly damaging	Het
Zfp362	G	T	4: 128,790,276	P13T	probably damaging	Het
Zfp825	A	G	13: 74,480,945	C151R	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
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
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

Posted On

2014-06-30