Mutagenetix > Incidental Mutation

Incidental Mutation 'R3121:Golga4'

263232

Institutional Source

Beutler Lab

Gene Symbol

Golga4

Ensembl Gene

ENSMUSG00000038708

Gene Name

golgin A4

Synonyms

golgin-245, Olp-1

MMRRC Submission

040594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118335335-118411587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118386448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1190 (T1190K)

Ref Sequence

ENSEMBL: ENSMUSP00000081880 (fasta)

Gene Model

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

AlphaFold

Q91VW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084820
AA Change: T1190K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: T1190K

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: T200K

Predicted Effect

probably benign
Transcript: ENSMUST00000212097

Predicted Effect

probably benign
Transcript: ENSMUST00000212183

Predicted Effect

probably benign
Transcript: ENSMUST00000212274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212913

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,966,091 (GRCm39)	M423K	probably benign	Het
Adamtsl1	T	A	4: 86,255,246 (GRCm39)	W780R	probably damaging	Het
Ago3	A	G	4: 126,311,165 (GRCm39)	I16T	probably benign	Het
Amph	T	A	13: 19,297,316 (GRCm39)	L354*	probably null	Het
Ankk1	G	A	9: 49,338,267 (GRCm39)	L9F	probably benign	Het
Brdt	A	G	5: 107,525,011 (GRCm39)	T851A	probably damaging	Het
Bzw2	A	C	12: 36,170,788 (GRCm39)		probably null	Het
Capn7	A	T	14: 31,081,167 (GRCm39)	I395F	probably damaging	Het
Ccdc146	T	C	5: 21,499,591 (GRCm39)	R864G	possibly damaging	Het
Ccdc50	G	T	16: 27,228,139 (GRCm39)	R102L	possibly damaging	Het
Cep83	T	C	10: 94,622,700 (GRCm39)	V592A	probably damaging	Het
Cgn	G	A	3: 94,685,792 (GRCm39)		probably benign	Het
Cidec	C	A	6: 113,405,086 (GRCm39)	V195L	probably benign	Het
Cntln	A	G	4: 84,923,289 (GRCm39)		probably benign	Het
Cntrob	A	T	11: 69,213,526 (GRCm39)	L88*	probably null	Het
Dnah17	C	T	11: 117,931,912 (GRCm39)	V3687M	probably damaging	Het
Dst	T	C	1: 34,328,729 (GRCm39)	I4599T	probably damaging	Het
Dtl	A	T	1: 191,285,175 (GRCm39)	Y320*	probably null	Het
Fam98b	A	G	2: 117,098,408 (GRCm39)	T293A	probably damaging	Het
Farp1	G	A	14: 121,460,138 (GRCm39)		probably benign	Het
Fat2	G	T	11: 55,202,622 (GRCm39)	P151T	probably damaging	Het
Fbxl17	A	T	17: 63,778,419 (GRCm39)	M497K	probably damaging	Het
Foxn4	T	C	5: 114,396,776 (GRCm39)	T236A	probably damaging	Het
Gm525	C	T	11: 88,979,374 (GRCm39)		probably benign	Het
H2-T23	T	A	17: 36,341,855 (GRCm39)	M248L	probably benign	Het
Homez	T	C	14: 55,094,778 (GRCm39)	E310G	probably benign	Het
Hydin	A	G	8: 111,233,138 (GRCm39)	I1746V	probably benign	Het
Igkv1-35	T	A	6: 69,988,641 (GRCm39)	H6L	probably benign	Het
Kcnt2	T	C	1: 140,356,622 (GRCm39)	S354P	probably damaging	Het
Khdc4	A	G	3: 88,596,599 (GRCm39)	T127A	probably damaging	Het
Klra4	G	T	6: 130,040,141 (GRCm39)	Q44K	probably benign	Het
L3mbtl3	A	G	10: 26,220,119 (GRCm39)		probably benign	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Magea14	A	T	X: 51,057,968 (GRCm39)	Y239*	probably null	Het
Map3k9	A	G	12: 81,790,698 (GRCm39)	I285T	probably damaging	Het
Or4a47	T	A	2: 89,665,858 (GRCm39)	I144L	probably benign	Het
Or6c6	A	G	10: 129,186,552 (GRCm39)	N40S	possibly damaging	Het
Pcdhb16	A	T	18: 37,611,271 (GRCm39)	Q77L	possibly damaging	Het
Pramel20	T	A	4: 143,297,583 (GRCm39)	M1K	probably null	Het
Proser3	A	G	7: 30,239,796 (GRCm39)	V436A	probably benign	Het
Relch	A	G	1: 105,653,524 (GRCm39)	N834S	probably benign	Het
Resf1	T	A	6: 149,230,741 (GRCm39)	C1262*	probably null	Het
Sec24b	C	T	3: 129,795,953 (GRCm39)		probably null	Het
Slc2a2	A	G	3: 28,775,898 (GRCm39)	Q336R	probably benign	Het
Sowahb	T	C	5: 93,191,261 (GRCm39)	D486G	possibly damaging	Het
Spidr	T	C	16: 15,958,724 (GRCm39)	K13E	probably damaging	Het
Tiam2	T	A	17: 3,489,977 (GRCm39)	M786K	probably benign	Het
Tktl2	T	A	8: 66,964,808 (GRCm39)	V122E	probably damaging	Het
Wapl	A	G	14: 34,451,172 (GRCm39)	I729M	possibly damaging	Het
Zbbx	T	C	3: 74,989,153 (GRCm39)	T317A	possibly damaging	Het
Zfp976	A	G	7: 42,262,938 (GRCm39)	C300R	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
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
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'- GAAGTCTGCTGTCATCGTTTC -3'
(R):5'- ACAGCCTAGCGAGAATAGCG -3'

Sequencing Primer
(F):5'- CCCTTTCGGAGCGTGAATC -3'
(R):5'- ACGGCTGGTGCACACTAGTTC -3'

Posted On

2015-02-05