Mutagenetix > Incidental Mutation

Incidental Mutation 'R4321:Golga4'

323835

Institutional Source

Beutler Lab

Gene Symbol

Golga4

Ensembl Gene

ENSMUSG00000038708

Gene Name

golgin A4

Synonyms

golgin-245, Olp-1

MMRRC Submission

041662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4321 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118335335-118411587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118385503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 847 (E847G)

Ref Sequence

ENSEMBL: ENSMUSP00000148748 (fasta)

Gene Model

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

AlphaFold

Q91VW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000084820
AA Change: E875G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: E875G

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 benign
Transcript: ENSMUST00000211840

Predicted Effect

probably damaging
Transcript: ENSMUST00000212097
AA Change: E847G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000212183

Predicted Effect

probably benign
Transcript: ENSMUST00000212274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212913

Meta Mutation Damage Score

0.1182

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (56/59)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,100,887 (GRCm39)	D420V	probably damaging	Het
Als2	A	C	1: 59,206,613 (GRCm39)		probably benign	Het
Ankrd9	A	G	12: 110,943,074 (GRCm39)	L287P	probably damaging	Het
Aoc1l1	T	A	6: 48,953,456 (GRCm39)	D460E	probably damaging	Het
Bbof1	A	T	12: 84,473,902 (GRCm39)	R411*	probably null	Het
Camta2	A	T	11: 70,569,151 (GRCm39)	L598Q	probably damaging	Het
Ccdc178	T	A	18: 22,166,600 (GRCm39)	K530*	probably null	Het
Cep85	G	A	4: 133,859,596 (GRCm39)	T689I	probably damaging	Het
Clvs1	T	C	4: 9,282,029 (GRCm39)		probably benign	Het
Cpped1	T	C	16: 11,705,610 (GRCm39)	T65A	probably benign	Het
Daxx	T	C	17: 34,130,380 (GRCm39)	Y132H	possibly damaging	Het
Dock7	T	C	4: 98,960,691 (GRCm39)	E279G	probably damaging	Het
Dok7	A	T	5: 35,237,141 (GRCm39)		probably benign	Het
Dthd1	A	T	5: 62,976,033 (GRCm39)	I236F	probably damaging	Het
Egf	A	G	3: 129,499,783 (GRCm39)	C285R	probably damaging	Het
Epha4	T	A	1: 77,483,850 (GRCm39)		probably null	Het
Fbxw13	A	C	9: 109,010,503 (GRCm39)	I378M	probably benign	Het
Gaa	A	T	11: 119,160,963 (GRCm39)	N2I	probably benign	Het
Gad1	G	A	2: 70,420,174 (GRCm39)	D353N	probably damaging	Het
Ggcx	A	G	6: 72,405,803 (GRCm39)	S545G	probably benign	Het
Gm2663	G	T	6: 40,974,530 (GRCm39)	Q87K	probably damaging	Het
Hipk3	C	A	2: 104,276,916 (GRCm39)	V388L	probably damaging	Het
Ibtk	T	C	9: 85,617,125 (GRCm39)	D149G	possibly damaging	Het
Ice1	A	T	13: 70,751,229 (GRCm39)	V1619E	possibly damaging	Het
Itpr3	A	G	17: 27,330,948 (GRCm39)	E1752G	probably benign	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kprp	G	A	3: 92,732,163 (GRCm39)	R296W	probably damaging	Het
Lama1	G	A	17: 68,078,078 (GRCm39)	G1171D	probably benign	Het
Lonp2	A	G	8: 87,392,356 (GRCm39)	H474R	probably damaging	Het
Mark1	G	T	1: 184,630,871 (GRCm39)	D746E	possibly damaging	Het
Mlxipl	C	T	5: 135,164,304 (GRCm39)	Q167*	probably null	Het
Myo3a	A	T	2: 22,271,966 (GRCm39)	N162Y	probably damaging	Het
Myo5a	T	G	9: 75,124,812 (GRCm39)	V1787G	probably damaging	Het
Myorg	C	T	4: 41,498,767 (GRCm39)	V288I	probably benign	Het
Nrxn3	A	T	12: 90,166,005 (GRCm39)	E227V	probably damaging	Het
Orc1	G	A	4: 108,445,973 (GRCm39)	M30I	probably benign	Het
Pira13	A	G	7: 3,825,754 (GRCm39)	S372P	possibly damaging	Het
Rufy2	A	G	10: 62,818,459 (GRCm39)	D5G	probably damaging	Het
Rufy4	A	T	1: 74,171,943 (GRCm39)	D222V	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Septin1	G	A	7: 126,816,200 (GRCm39)	P77S	probably damaging	Het
Slamf1	T	C	1: 171,602,694 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,179,798 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,679,429 (GRCm39)	I636K	possibly damaging	Het
Tshz2	T	A	2: 169,727,465 (GRCm39)	I218N	possibly damaging	Het
Txnl1	T	C	18: 63,812,561 (GRCm39)	T78A	possibly damaging	Het
Ulk4	T	G	9: 120,903,062 (GRCm39)	R1138S	probably benign	Het
Vamp8	A	C	6: 72,362,536 (GRCm39)	V88G	possibly damaging	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Zfp850	A	C	7: 27,688,825 (GRCm39)	F461C	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
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
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

PCR Primer
(F):5'- AGGCCTTGGCCAAACTAGATC -3'
(R):5'- AGACAATGTCTGTTTGAGGATCTCG -3'

Sequencing Primer
(F):5'- AACTAGATCTCTTGCACTCTGAGCAG -3'
(R):5'- GAGGATCTCGATTTCCTTGGCC -3'

Posted On

2015-06-24