Mutagenetix > Incidental Mutation

Incidental Mutation 'R6012:Golga4'

479820

Institutional Source

Beutler Lab

Gene Symbol

Golga4

Ensembl Gene

ENSMUSG00000038708

Gene Name

golgin A4

Synonyms

golgin-245, Olp-1

MMRRC Submission

044188-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6012 (G1)

Quality Score

153.008

Status

Validated

Chromosome

Chromosomal Location

118335335-118411587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118388764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1962 (K1962R)

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: K1962R

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: K1962R

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: K972R

Predicted Effect

probably benign
Transcript: ENSMUST00000212097

Predicted Effect

probably benign
Transcript: ENSMUST00000212183

Predicted Effect

probably benign
Transcript: ENSMUST00000212274

Meta Mutation Damage Score

0.0752

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

100% (55/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,400,691 (GRCm39)	Y97N	probably damaging	Het
Adrm1b	C	A	3: 92,336,791 (GRCm39)		probably null	Het
Akr1b10	A	T	6: 34,364,715 (GRCm39)	I59F	probably damaging	Het
Als2	A	T	1: 59,224,374 (GRCm39)	D1076E	probably damaging	Het
Bank1	T	C	3: 135,919,598 (GRCm39)	D266G	probably benign	Het
Bmp2k	T	A	5: 97,211,467 (GRCm39)		probably null	Het
Cdc42bpa	A	G	1: 179,892,655 (GRCm39)	Y273C	probably damaging	Het
Chfr	G	T	5: 110,292,517 (GRCm39)		probably null	Het
Dapk1	A	T	13: 60,909,476 (GRCm39)	Q1363L	probably benign	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Ect2	T	C	3: 27,152,474 (GRCm39)		probably benign	Het
Efcab10	A	C	12: 33,448,592 (GRCm39)	D107A	probably damaging	Het
Fcgr4	G	A	1: 170,853,233 (GRCm39)	G146D	possibly damaging	Het
Fgd5	A	G	6: 91,966,322 (GRCm39)	T694A	possibly damaging	Het
Ghr	T	C	15: 3,370,409 (GRCm39)	D152G	probably damaging	Het
Gli2	A	C	1: 118,765,445 (GRCm39)	L902R	probably damaging	Het
Glis2	G	A	16: 4,429,172 (GRCm39)	G125D	possibly damaging	Het
Gmcl1	A	G	6: 86,698,394 (GRCm39)	Y168H	probably damaging	Het
Hebp1	T	A	6: 135,145,055 (GRCm39)	E14V	probably damaging	Het
Hhla1	A	C	15: 65,820,339 (GRCm39)	I137S	probably damaging	Het
Hivep1	A	G	13: 42,337,934 (GRCm39)	H2671R	possibly damaging	Het
Hltf	A	G	3: 20,113,098 (GRCm39)	Y19C	probably damaging	Het
Hsd3b2	A	T	3: 98,619,333 (GRCm39)	M204K	probably benign	Het
Hspa4l	A	T	3: 40,736,031 (GRCm39)	I551F	probably benign	Het
Itpkc	A	T	7: 26,927,490 (GRCm39)	D141E	probably damaging	Het
Kcnc3	A	G	7: 44,248,296 (GRCm39)	D757G	probably benign	Het
Mettl16	A	T	11: 74,678,474 (GRCm39)	Y141F	probably damaging	Het
Mfng	G	A	15: 78,640,840 (GRCm39)	R302C	probably damaging	Het
Mogs	T	A	6: 83,094,363 (GRCm39)	S393R	probably damaging	Het
Mrps28	A	G	3: 8,965,044 (GRCm39)		probably null	Het
Nfat5	T	C	8: 108,093,765 (GRCm39)	S150P	probably benign	Het
Or2w1	T	C	13: 21,316,978 (GRCm39)	V11A	probably benign	Het
Or7d10	A	T	9: 19,832,237 (GRCm39)	H244L	probably damaging	Het
Pcdh12	A	G	18: 38,416,805 (GRCm39)	S107P	probably damaging	Het
Phf21a	G	A	2: 92,182,120 (GRCm39)	D463N	probably damaging	Het
Picalm	A	C	7: 89,844,908 (GRCm39)	I567L	probably benign	Het
Pla2g4a	T	A	1: 149,808,428 (GRCm39)	D5V	possibly damaging	Het
Sspo	C	T	6: 48,428,305 (GRCm39)	T222M	probably benign	Het
Stard9	T	C	2: 120,535,067 (GRCm39)	S3775P	probably damaging	Het
Stk31	A	T	6: 49,446,243 (GRCm39)	D982V	probably damaging	Het
Tas2r113	C	T	6: 132,870,644 (GRCm39)	T224I	probably damaging	Het
Tbc1d15	T	C	10: 115,055,112 (GRCm39)	D310G	probably damaging	Het
Tcf12	G	T	9: 71,766,229 (GRCm39)	T468K	possibly damaging	Het
Tenm4	A	G	7: 96,171,640 (GRCm39)		probably benign	Het
Tet2	A	G	3: 133,172,542 (GRCm39)	Y1907H	possibly damaging	Het
Thsd7a	T	C	6: 12,379,388 (GRCm39)		probably null	Het
Tln1	T	A	4: 43,539,508 (GRCm39)	T1605S	probably benign	Het
Trp53bp1	T	C	2: 121,087,083 (GRCm39)	Y191C	probably benign	Het
Ugcg	T	A	4: 59,220,272 (GRCm39)	I355N	probably damaging	Het
Vmn1r21	A	T	6: 57,820,891 (GRCm39)	D184E	probably damaging	Het
Vsig10l	T	A	7: 43,117,439 (GRCm39)	D575E	probably damaging	Het
Zan	G	A	5: 137,462,791 (GRCm39)	T796I	unknown	Het
Zfp639	A	G	3: 32,573,271 (GRCm39)	D61G	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
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
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'- TTCCCAGCAAGAAATGGATGG -3'
(R):5'- TCCAGGCCAAAATGATCATTTCTC -3'

Sequencing Primer
(F):5'- GGGAAAATAAATGTGTAGAAGTGTTG -3'
(R):5'- GGCCAAAATGATCATTTCTCCTCAG -3'

Posted On

2017-06-26