Mutagenetix > Incidental Mutation

Incidental Mutation 'R5232:Golga4'

398617

Institutional Source

Beutler Lab

Gene Symbol

Golga4

Ensembl Gene

ENSMUSG00000038708

Gene Name

golgin A4

Synonyms

golgin-245, Olp-1

MMRRC Submission

042804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5232 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

118335335-118411587 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 118335626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084820] [ENSMUST00000212097]

AlphaFold

Q91VW5

Predicted Effect

probably null
Transcript: ENSMUST00000084820

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708

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

probably null
Transcript: ENSMUST00000212097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212593

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,157,672 (GRCm39)	E1295G	probably damaging	Het
Adarb2	C	A	13: 8,763,676 (GRCm39)	H524Q	possibly damaging	Het
Arhgap26	A	G	18: 39,126,529 (GRCm39)	M1V	probably null	Het
Atp10b	G	A	11: 43,093,006 (GRCm39)	R447H	probably damaging	Het
B4galnt3	T	A	6: 120,209,949 (GRCm39)	Y58F	probably damaging	Het
Cdca7l	A	G	12: 117,833,820 (GRCm39)	E79G	probably damaging	Het
Chd4	C	G	6: 125,098,273 (GRCm39)	P350A	probably damaging	Het
Coq2	G	A	5: 100,805,698 (GRCm39)	H313Y	possibly damaging	Het
Cubn	A	T	2: 13,483,013 (GRCm39)	C244*	probably null	Het
Cyfip2	A	G	11: 46,133,205 (GRCm39)	S832P	probably damaging	Het
Dnaaf1	A	C	8: 120,317,329 (GRCm39)	E286A	probably benign	Het
Emilin1	A	G	5: 31,074,323 (GRCm39)	K188R	probably benign	Het
Fstl5	T	C	3: 76,052,284 (GRCm39)	W5R	possibly damaging	Het
Gm5565	T	A	5: 146,096,947 (GRCm39)	Y64F	possibly damaging	Het
Hmcn2	T	C	2: 31,347,760 (GRCm39)	L4802P	probably damaging	Het
Hnrnpll	C	T	17: 80,346,107 (GRCm39)	V385I	probably damaging	Het
Kctd9	A	T	14: 67,962,110 (GRCm39)	D51V	probably damaging	Het
Lcn9	T	C	2: 25,714,067 (GRCm39)		probably null	Het
Map1a	C	A	2: 121,132,466 (GRCm39)	P856H	probably damaging	Het
Myo5b	G	C	18: 74,848,003 (GRCm39)	E1080D	probably damaging	Het
Naglu	T	C	11: 100,960,976 (GRCm39)	I9T	probably benign	Het
Ndst3	A	T	3: 123,465,888 (GRCm39)	I28N	probably damaging	Het
Olfm4	A	G	14: 80,259,122 (GRCm39)	N424D	probably damaging	Het
Or11g26	T	A	14: 50,753,495 (GRCm39)	V278E	probably damaging	Het
Or4n5	A	G	14: 50,133,155 (GRCm39)	Y35H	probably damaging	Het
Phf13	T	C	4: 152,076,680 (GRCm39)	T171A	probably damaging	Het
Plk3	A	G	4: 116,986,317 (GRCm39)	V605A	probably benign	Het
Polr3a	A	T	14: 24,503,279 (GRCm39)	M1185K	probably benign	Het
Pramel7	A	T	2: 87,320,320 (GRCm39)	H324Q	probably damaging	Het
Prpf4b	T	A	13: 35,067,573 (GRCm39)		probably benign	Het
Pxdn	C	T	12: 30,040,987 (GRCm39)	T421I	probably benign	Het
Sertad2	C	T	11: 20,598,344 (GRCm39)	T180I	possibly damaging	Het
Sgo2b	C	A	8: 64,381,636 (GRCm39)	A399S	possibly damaging	Het
Skint5	T	C	4: 113,434,841 (GRCm39)	K1043E	unknown	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Spock3	T	C	8: 63,798,843 (GRCm39)	F288S	probably damaging	Het
Srgap1	T	C	10: 121,676,816 (GRCm39)	I393V	probably benign	Het
Taf6	T	C	5: 138,178,214 (GRCm39)	K429R	possibly damaging	Het
Vav1	T	C	17: 57,610,846 (GRCm39)	F447L	possibly damaging	Het
Vmn2r19	T	C	6: 123,312,916 (GRCm39)	M662T	probably benign	Het
Zfp541	A	G	7: 15,829,104 (GRCm39)	Y1152C	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
R5045:Golga4	UTSW	9	118,394,724 (GRCm39)	missense	probably benign
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

PCR Primer
(F):5'- TTGACAGCACAGCTCCAAG -3'
(R):5'- AAGTCAAATGTCCCGACCGG -3'

Sequencing Primer
(F):5'- ACTCCCGCTAGAGTCAGC -3'
(R):5'- TCAAAGGTCATGGGGAAC -3'

Posted On

2016-07-06