Mutagenetix > Incidental Mutation

Incidental Mutation 'R1384:Golga4'

163171

Institutional Source

Beutler Lab

Gene Symbol

Golga4

Ensembl Gene

ENSMUSG00000038708

Gene Name

golgin A4

Synonyms

golgin-245, Olp-1

MMRRC Submission

039446-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1384 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

118335335-118411587 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118394719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 96 (E96G)

Gene Model

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

AlphaFold

Q91VW5

Predicted Effect

probably benign
Transcript: ENSMUST00000084820
AA Change: E2107G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: E2107G

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 damaging
Transcript: ENSMUST00000211840
AA Change: E1117G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211846
AA Change: E7G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212151

Predicted Effect

probably damaging
Transcript: ENSMUST00000212274
AA Change: E96G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.0678

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

96% (54/56)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930408O17Rik	G	A	12: 104,837,451 (GRCm39)		noncoding transcript	Het
A930033H14Rik	A	G	10: 69,048,191 (GRCm39)		probably benign	Het
Abcf3	G	A	16: 20,378,053 (GRCm39)	G522R	probably damaging	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Alg10b	A	G	15: 90,111,785 (GRCm39)	K210E	possibly damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
C9	G	A	15: 6,488,415 (GRCm39)	V90I	probably benign	Het
Cacna1s	A	G	1: 136,022,709 (GRCm39)	I634V	probably benign	Het
Catip	A	G	1: 74,403,522 (GRCm39)	D153G	probably benign	Het
Cpt1c	G	A	7: 44,610,348 (GRCm39)		probably benign	Het
Cyp2c23	A	G	19: 44,002,102 (GRCm39)	S296P	probably damaging	Het
Cyp2d41-ps	G	A	15: 82,663,718 (GRCm39)		noncoding transcript	Het
Edc4	T	A	8: 106,619,014 (GRCm39)	I1327N	probably damaging	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Filip1l	A	G	16: 57,391,652 (GRCm39)	K509E	possibly damaging	Het
Grid2ip	T	G	5: 143,371,851 (GRCm39)		probably null	Het
Gucy1a2	A	C	9: 3,759,620 (GRCm39)	E475D	probably damaging	Het
Hipk1	A	G	3: 103,666,090 (GRCm39)		probably benign	Het
Ica1	G	A	6: 8,742,262 (GRCm39)	Q124*	probably null	Het
Igsf3	T	C	3: 101,358,612 (GRCm39)		probably null	Het
Matn2	A	G	15: 34,409,956 (GRCm39)	E462G	probably benign	Het
Men1	T	C	19: 6,389,921 (GRCm39)	S464P	probably benign	Het
Mrgpra2b	T	A	7: 47,113,742 (GRCm39)	E330V	probably damaging	Het
Myoz2	A	T	3: 122,819,765 (GRCm39)	S65T	probably damaging	Het
Nckap1	A	G	2: 80,364,014 (GRCm39)	M492T	possibly damaging	Het
Nhsl1	A	T	10: 18,284,261 (GRCm39)	K67N	probably null	Het
Nostrin	A	G	2: 69,019,406 (GRCm39)	R484G	probably benign	Het
Or8g22	T	A	9: 38,958,200 (GRCm39)	I172F	possibly damaging	Het
Otog	T	A	7: 45,923,119 (GRCm39)		probably benign	Het
P2rx5	A	G	11: 73,058,716 (GRCm39)	Y300C	probably damaging	Het
Pars2	T	C	4: 106,510,913 (GRCm39)	F232L	possibly damaging	Het
Pi4ka	A	G	16: 17,115,401 (GRCm39)		probably benign	Het
Pld3	A	G	7: 27,237,082 (GRCm39)	S266P	probably benign	Het
Pole	G	A	5: 110,471,530 (GRCm39)	V1425M	possibly damaging	Het
Prss43	A	G	9: 110,656,510 (GRCm39)	I66V	probably benign	Het
Rtn4	A	T	11: 29,686,437 (GRCm39)	N264I	probably damaging	Het
Slc45a2	A	G	15: 11,025,832 (GRCm39)	Y394C	probably benign	Het
Speer4f2	A	T	5: 17,579,447 (GRCm39)	N82I	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Strip1	T	C	3: 107,534,155 (GRCm39)	S160G	probably benign	Het
Tbx2	A	G	11: 85,724,318 (GRCm39)	K129R	probably benign	Het
Tfr2	T	C	5: 137,585,082 (GRCm39)		probably benign	Het
Thap12	T	C	7: 98,352,645 (GRCm39)	S17P	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tspear	T	C	10: 77,702,166 (GRCm39)	F200L	probably benign	Het
Tspyl5	T	A	15: 33,687,526 (GRCm39)	R140W	possibly damaging	Het
Ttn	T	C	2: 76,606,002 (GRCm39)	D18236G	probably damaging	Het
Upf2	G	A	2: 5,965,800 (GRCm39)	R140Q	unknown	Het
Vps4a	T	A	8: 107,763,276 (GRCm39)	I10N	possibly 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
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
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'- AAGGAGTGACGAGTTCTGTGTCCC -3'
(R):5'- TGCAGCCCTCAGTGACTGATAACC -3'

Sequencing Primer
(F):5'- CTGTTTTCATGCTGAAGGCC -3'
(R):5'- CCTCAGTGACTGATAACCTGTAAG -3'

Posted On

2014-03-17