Mutagenetix > Incidental Mutation

Incidental Mutation 'R5045:Golga4'

394339

Institutional Source

Beutler Lab

Gene Symbol

Golga4

Ensembl Gene

ENSMUSG00000038708

Gene Name

golgin A4

Synonyms

golgin-245, Olp-1

MMRRC Submission

042635-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5045 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

118335335-118411587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118394724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 9 (T9A)

Ref Sequence

ENSEMBL: ENSMUSP00000148276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084820] [ENSMUST00000211846]

AlphaFold

Q91VW5

Predicted Effect

probably benign
Transcript: ENSMUST00000084820
AA Change: T2109A

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

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: T2109A

Domain	Start	End	E-Value	Type
low complexity region	10	41	N/A	INTRINSIC
coiled coil region	157	241	N/A	INTRINSIC
internal_repeat_1	271	299	2.93e-5	PROSPERO
low complexity region	339	351	N/A	INTRINSIC
low complexity region	513	532	N/A	INTRINSIC
low complexity region	547	566	N/A	INTRINSIC
low complexity region	705	715	N/A	INTRINSIC
low complexity region	739	755	N/A	INTRINSIC
low complexity region	882	895	N/A	INTRINSIC
SCOP:d1epua_	940	1076	2e-3	SMART
low complexity region	1138	1152	N/A	INTRINSIC
low complexity region	1161	1182	N/A	INTRINSIC
low complexity region	1204	1228	N/A	INTRINSIC
coiled coil region	1283	1496	N/A	INTRINSIC
internal_repeat_2	1500	1525	5.98e-5	PROSPERO
coiled coil region	1541	1715	N/A	INTRINSIC
low complexity region	1756	1778	N/A	INTRINSIC
internal_repeat_1	1811	1839	2.93e-5	PROSPERO
coiled coil region	1844	1883	N/A	INTRINSIC
internal_repeat_2	1899	1924	5.98e-5	PROSPERO
coiled coil region	1933	2160	N/A	INTRINSIC
Grip	2181	2225	1.38e-16	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000211840
AA Change: T1119A

Predicted Effect

probably benign
Transcript: ENSMUST00000211846
AA Change: T9A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212151

Predicted Effect

unknown
Transcript: ENSMUST00000212274
AA Change: T98A

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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 protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]

Allele List at MGI

All alleles(32) : Gene trapped(32)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,530,327 (GRCm39)		probably benign	Het
2210408I21Rik	A	G	13: 77,415,927 (GRCm39)		probably null	Het
4930519P11Rik	A	T	2: 154,454,950 (GRCm39)	C136*	probably null	Het
4930519P11Rik	G	T	2: 154,454,982 (GRCm39)		probably benign	Het
Adgrb3	T	A	1: 25,113,860 (GRCm39)	H1189L	probably damaging	Het
Arhgap24	A	G	5: 103,039,743 (GRCm39)	I227V	possibly damaging	Het
Arhgap29	C	A	3: 121,796,244 (GRCm39)	N445K	probably benign	Het
Atp13a3	T	C	16: 30,158,694 (GRCm39)	H811R	probably benign	Het
Cd2ap	T	C	17: 43,118,851 (GRCm39)	N529S	probably benign	Het
Cdh20	T	A	1: 110,026,080 (GRCm39)	S439T	probably benign	Het
Ces3a	G	T	8: 105,777,248 (GRCm39)		probably null	Het
Cftr	T	A	6: 18,230,080 (GRCm39)	N408K	probably benign	Het
Chil5	T	C	3: 105,931,456 (GRCm39)	N136S	possibly damaging	Het
Col20a1	A	G	2: 180,648,638 (GRCm39)	D933G	probably damaging	Het
Crh	A	T	3: 19,748,153 (GRCm39)	L163*	probably null	Het
Ctps1	A	C	4: 120,410,075 (GRCm39)		probably null	Het
Cyb5d2	A	G	11: 72,686,401 (GRCm39)	V63A	probably damaging	Het
Cyp2d11	T	A	15: 82,275,272 (GRCm39)		probably null	Het
Dclk3	A	T	9: 111,296,856 (GRCm39)	E133D	probably damaging	Het
Dhrs9	A	G	2: 69,223,339 (GRCm39)	D29G	probably benign	Het
Disp2	G	A	2: 118,622,543 (GRCm39)	E1092K	probably benign	Het
Enpp3	A	G	10: 24,652,665 (GRCm39)	I764T	probably damaging	Het
Epm2aip1	C	A	9: 111,102,427 (GRCm39)	R467S	possibly damaging	Het
Fam20a	T	C	11: 109,568,711 (GRCm39)	I272V	probably benign	Het
Fgb	T	C	3: 82,950,680 (GRCm39)	Y358C	probably damaging	Het
Gm11596	A	T	11: 99,683,695 (GRCm39)	S142T	unknown	Het
Hmcn2	C	T	2: 31,299,093 (GRCm39)	P2813L	probably damaging	Het
Ighv1-9	C	T	12: 114,547,440 (GRCm39)	G34R	probably damaging	Het
Kalrn	A	C	16: 34,134,722 (GRCm39)	Y353*	probably null	Het
Klrk1	T	C	6: 129,594,466 (GRCm39)	Y42C	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Mbtd1	T	C	11: 93,822,641 (GRCm39)	Y484H	probably benign	Het
Mki67	T	C	7: 135,309,633 (GRCm39)	R273G	possibly damaging	Het
Myh11	A	T	16: 14,057,391 (GRCm39)	L308*	probably null	Het
Nacc2	G	A	2: 25,980,150 (GRCm39)		probably null	Het
Nadsyn1	A	G	7: 143,360,706 (GRCm39)	L354P	probably damaging	Het
Ntrk3	T	A	7: 78,110,172 (GRCm39)	Q354L	probably benign	Het
Or10ag58	A	T	2: 87,265,490 (GRCm39)	I220L	probably damaging	Het
Or52r1c	G	A	7: 102,735,664 (GRCm39)	G308E	probably benign	Het
Phactr3	T	C	2: 177,973,412 (GRCm39)	I470T	probably damaging	Het
Pkd1l3	C	T	8: 110,349,787 (GRCm39)	P211S	unknown	Het
Potefam1	T	A	2: 111,023,804 (GRCm39)	Q110L	unknown	Het
Prickle2	T	C	6: 92,353,375 (GRCm39)	D753G	probably damaging	Het
Prr12	A	G	7: 44,699,318 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,166,477 (GRCm39)	E917G	probably damaging	Het
Rgsl1	T	A	1: 153,697,268 (GRCm39)	K551*	probably null	Het
Stag3	T	C	5: 138,302,740 (GRCm39)	L1033P	probably damaging	Het
Tcaf3	T	A	6: 42,570,618 (GRCm39)	Q378L	possibly damaging	Het
Tdpoz8	G	T	3: 92,981,524 (GRCm39)	D181Y	probably damaging	Het
Tespa1	A	T	10: 130,197,904 (GRCm39)	K309*	probably null	Het
Trim69	A	G	2: 122,004,727 (GRCm39)	T275A	probably benign	Het
Txndc17	T	C	11: 72,098,537 (GRCm39)	Y30H	probably damaging	Het
Ugt2a2	A	T	5: 87,622,751 (GRCm39)	F72L	probably damaging	Het
Vmn2r59	A	T	7: 41,695,496 (GRCm39)	D305E	possibly damaging	Het
Vmn2r71	A	G	7: 85,273,597 (GRCm39)	I804V	probably benign	Het
Zfy2	T	C	Y: 2,107,159 (GRCm39)	K492E	possibly damaging	Het
Zkscan1	A	G	5: 138,099,182 (GRCm39)	H375R	probably damaging	Het

Other mutations in Golga4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00711:Golga4	APN	9	118,343,339 (GRCm39)	critical splice donor site	probably null
IGL00801:Golga4	APN	9	118,367,994 (GRCm39)	missense	probably damaging	0.98
IGL01395:Golga4	APN	9	118,364,441 (GRCm39)	missense	probably damaging	1.00
IGL01472:Golga4	APN	9	118,361,642 (GRCm39)	missense	probably damaging	1.00
IGL01519:Golga4	APN	9	118,356,160 (GRCm39)	missense	probably damaging	1.00
IGL01563:Golga4	APN	9	118,356,074 (GRCm39)	splice site	probably benign
IGL02593:Golga4	APN	9	118,384,634 (GRCm39)	unclassified	probably benign
IGL02803:Golga4	APN	9	118,364,528 (GRCm39)	missense	probably benign
IGL02939:Golga4	APN	9	118,363,700 (GRCm39)	missense	probably damaging	1.00
IGL02939:Golga4	APN	9	118,364,522 (GRCm39)	missense	probably benign	0.01
IGL03123:Golga4	APN	9	118,365,953 (GRCm39)	missense	probably damaging	1.00
IGL03334:Golga4	APN	9	118,366,301 (GRCm39)	splice site	probably benign
F5770:Golga4	UTSW	9	118,385,143 (GRCm39)	missense	possibly damaging	0.62
F6893:Golga4	UTSW	9	118,382,525 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Golga4	UTSW	9	118,382,521 (GRCm39)	missense	possibly damaging	0.88
R0179:Golga4	UTSW	9	118,389,808 (GRCm39)	critical splice acceptor site	probably null
R0279:Golga4	UTSW	9	118,398,061 (GRCm39)	missense	probably benign	0.00
R0362:Golga4	UTSW	9	118,384,853 (GRCm39)	missense	probably benign	0.13
R0973:Golga4	UTSW	9	118,366,341 (GRCm39)	missense	probably damaging	1.00
R0973:Golga4	UTSW	9	118,366,341 (GRCm39)	missense	probably damaging	1.00
R0974:Golga4	UTSW	9	118,366,341 (GRCm39)	missense	probably damaging	1.00
R1128:Golga4	UTSW	9	118,377,852 (GRCm39)	missense	probably benign	0.40
R1384:Golga4	UTSW	9	118,394,719 (GRCm39)	missense	probably damaging	0.99
R1435:Golga4	UTSW	9	118,364,508 (GRCm39)	missense	probably benign	0.00
R1513:Golga4	UTSW	9	118,384,800 (GRCm39)	missense	probably benign	0.02
R1818:Golga4	UTSW	9	118,402,055 (GRCm39)	missense	probably damaging	1.00
R2083:Golga4	UTSW	9	118,361,658 (GRCm39)	missense	probably damaging	1.00
R2243:Golga4	UTSW	9	118,385,972 (GRCm39)	missense	probably benign	0.06
R2355:Golga4	UTSW	9	118,389,810 (GRCm39)	missense	probably benign	0.00
R2518:Golga4	UTSW	9	118,385,680 (GRCm39)	missense	probably damaging	1.00
R2921:Golga4	UTSW	9	118,388,411 (GRCm39)	missense	possibly damaging	0.49
R2922:Golga4	UTSW	9	118,388,411 (GRCm39)	missense	possibly damaging	0.49
R2923:Golga4	UTSW	9	118,388,411 (GRCm39)	missense	possibly damaging	0.49
R3121:Golga4	UTSW	9	118,386,448 (GRCm39)	missense	possibly damaging	0.68
R3424:Golga4	UTSW	9	118,363,715 (GRCm39)	missense	probably benign	0.16
R3909:Golga4	UTSW	9	118,387,804 (GRCm39)	missense	possibly damaging	0.82
R3913:Golga4	UTSW	9	118,368,039 (GRCm39)	missense	probably damaging	0.99
R4321:Golga4	UTSW	9	118,385,503 (GRCm39)	missense	probably damaging	1.00
R4358:Golga4	UTSW	9	118,380,946 (GRCm39)	missense	probably benign	0.16
R4483:Golga4	UTSW	9	118,343,254 (GRCm39)	missense	probably damaging	1.00
R4515:Golga4	UTSW	9	118,388,076 (GRCm39)	missense	probably benign	0.28
R4518:Golga4	UTSW	9	118,388,076 (GRCm39)	missense	probably benign	0.28
R4519:Golga4	UTSW	9	118,388,076 (GRCm39)	missense	probably benign	0.28
R4545:Golga4	UTSW	9	118,385,913 (GRCm39)	missense	probably damaging	1.00
R4546:Golga4	UTSW	9	118,385,913 (GRCm39)	missense	probably damaging	1.00
R4580:Golga4	UTSW	9	118,386,327 (GRCm39)	missense	probably benign	0.00
R4918:Golga4	UTSW	9	118,387,213 (GRCm39)	missense	probably damaging	1.00
R5007:Golga4	UTSW	9	118,387,368 (GRCm39)	missense	probably benign
R5232:Golga4	UTSW	9	118,335,626 (GRCm39)	critical splice donor site	probably null
R5256:Golga4	UTSW	9	118,385,569 (GRCm39)	missense	possibly damaging	0.93
R5502:Golga4	UTSW	9	118,388,125 (GRCm39)	nonsense	probably null
R5567:Golga4	UTSW	9	118,387,251 (GRCm39)	missense	probably damaging	1.00
R5576:Golga4	UTSW	9	118,382,602 (GRCm39)	missense	probably benign	0.13
R5771:Golga4	UTSW	9	118,387,351 (GRCm39)	missense	probably damaging	0.96
R5807:Golga4	UTSW	9	118,356,198 (GRCm39)	missense	probably damaging	0.99
R5860:Golga4	UTSW	9	118,387,174 (GRCm39)	missense	probably damaging	1.00
R6012:Golga4	UTSW	9	118,388,764 (GRCm39)	missense	possibly damaging	0.90
R6285:Golga4	UTSW	9	118,387,695 (GRCm39)	nonsense	probably null
R6299:Golga4	UTSW	9	118,386,438 (GRCm39)	missense	probably benign	0.03
R6467:Golga4	UTSW	9	118,365,860 (GRCm39)	missense	probably damaging	1.00
R6552:Golga4	UTSW	9	118,343,299 (GRCm39)	missense	probably damaging	1.00
R6688:Golga4	UTSW	9	118,343,278 (GRCm39)	missense	possibly damaging	0.66
R6965:Golga4	UTSW	9	118,377,847 (GRCm39)	missense	probably damaging	1.00
R6987:Golga4	UTSW	9	118,387,600 (GRCm39)	missense	probably benign
R7212:Golga4	UTSW	9	118,365,908 (GRCm39)	missense	possibly damaging	0.80
R7426:Golga4	UTSW	9	118,388,563 (GRCm39)	missense	probably benign
R7431:Golga4	UTSW	9	118,388,799 (GRCm39)	missense	probably damaging	1.00
R7641:Golga4	UTSW	9	118,386,643 (GRCm39)	missense	probably benign	0.05
R7727:Golga4	UTSW	9	118,377,770 (GRCm39)	missense	probably damaging	1.00
R7729:Golga4	UTSW	9	118,385,131 (GRCm39)	missense	possibly damaging	0.51
R7811:Golga4	UTSW	9	118,361,643 (GRCm39)	missense	probably damaging	1.00
R7849:Golga4	UTSW	9	118,388,379 (GRCm39)	missense	possibly damaging	0.93
R7891:Golga4	UTSW	9	118,385,434 (GRCm39)	missense	probably damaging	1.00
R7976:Golga4	UTSW	9	118,365,836 (GRCm39)	missense	possibly damaging	0.49
R8275:Golga4	UTSW	9	118,361,627 (GRCm39)	missense	probably damaging	1.00
R8378:Golga4	UTSW	9	118,387,390 (GRCm39)	missense	probably benign	0.03
R8514:Golga4	UTSW	9	118,384,864 (GRCm39)	missense	possibly damaging	0.47
R8698:Golga4	UTSW	9	118,385,029 (GRCm39)	missense	probably damaging	0.97
R8856:Golga4	UTSW	9	118,385,779 (GRCm39)	missense	probably damaging	0.98
R9227:Golga4	UTSW	9	118,385,941 (GRCm39)	missense	possibly damaging	0.94
R9282:Golga4	UTSW	9	118,385,893 (GRCm39)	missense	probably damaging	1.00
RF022:Golga4	UTSW	9	118,387,057 (GRCm39)	missense	probably damaging	1.00
V7583:Golga4	UTSW	9	118,385,143 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

Posted On

2016-06-15