Mutagenetix > Incidental Mutation

Incidental Mutation 'R8856:Golga4'

675347

Institutional Source

Beutler Lab

Gene Symbol

Golga4

Ensembl Gene

ENSMUSG00000038708

Gene Name

golgi autoantigen, golgin subfamily a, 4

Synonyms

golgin-245, Olp-1

MMRRC Submission

Accession Numbers

Genbank: NM_018748; MGI: 1859646

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118506267-118582519 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118556711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 967 (N967S)

Ref Sequence

ENSEMBL: ENSMUSP00000081880 (fasta)

Gene Model

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

AlphaFold

Q91VW5

Predicted Effect

probably damaging
Transcript: ENSMUST00000084820
AA Change: N967S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: N967S

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

possibly damaging
Transcript: ENSMUST00000212097
AA Change: N939S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000212183

Predicted Effect

probably benign
Transcript: ENSMUST00000212274

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,641,390	R214H	probably benign	Het
Abca4	A	G	3: 122,112,447	S822G	probably benign	Het
Adgrv1	T	A	13: 81,559,502	I1262F	probably benign	Het
Agbl2	A	G	2: 90,801,744	D482G	probably damaging	Het
Asph	T	A	4: 9,630,947	T134S	possibly damaging	Het
Cacna1a	C	T	8: 84,559,441	A905V	probably benign	Het
Cacna1b	C	T	2: 24,679,518	R798H	probably benign	Het
Cpne8	G	T	15: 90,601,841	Q140K	probably benign	Het
Crocc2	A	T	1: 93,193,125	N538I	probably benign	Het
Cyp2j9	T	A	4: 96,573,947	I366F	probably damaging	Het
Dchs1	A	T	7: 105,760,857	D1769E	probably damaging	Het
Def6	A	T	17: 28,216,998	I44F	probably damaging	Het
Dnah7a	G	A	1: 53,423,263	T3723M	probably damaging	Het
Ecd	T	A	14: 20,337,072	Y198F	probably damaging	Het
Ecel1	A	C	1: 87,152,038	M451R	probably damaging	Het
Eea1	A	G	10: 95,995,644	D199G	probably benign	Het
Efna5	A	T	17: 62,607,379	I217N	unknown	Het
F13a1	A	T	13: 36,916,885	D428E	probably damaging	Het
Fads1	T	G	19: 10,192,912	I272S	probably benign	Het
Fam149a	C	T	8: 45,381,574	A63T		Het
Fam83a	A	T	15: 58,009,581	N269Y	probably damaging	Het
Fasn	G	A	11: 120,818,153	T568I	possibly damaging	Het
Fbn1	A	G	2: 125,314,717	S2363P	probably damaging	Het
Fbxl4	T	A	4: 22,390,803	W329R	probably damaging	Het
Fgf12	A	T	16: 28,189,481	V189E	probably damaging	Het
Frmd4b	A	T	6: 97,292,398	Y984*	probably null	Het
Galm	A	G	17: 80,183,232	T273A	possibly damaging	Het
Gm13078	A	T	4: 143,726,733	N137I	probably benign	Het
Gm43302	A	G	5: 105,290,873	S50P	probably damaging	Het
Gm45861	C	T	8: 27,520,760	S561L	unknown	Het
Gm9573	T	C	17: 35,620,973	T774A	unknown	Het
Gnao1	A	G	8: 93,811,417	I28V	probably benign	Het
Gpr155	A	T	2: 73,373,649	F274I	probably benign	Het
Grm1	A	C	10: 10,719,348	N845K	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,466,140		probably null	Het
Hsf4	G	T	8: 105,269,996	D18Y	probably null	Het
Htt	T	A	5: 34,903,331	D2774E	probably benign	Het
Iars2	A	G	1: 185,296,424	I679T	probably benign	Het
Irf4	T	C	13: 30,761,431	F387L	probably damaging	Het
Itgb5	A	G	16: 33,900,592	Y342C	probably damaging	Het
Kcnmb4	A	G	10: 116,446,394	W133R	possibly damaging	Het
Ldhc	A	T	7: 46,876,575	H271L	probably benign	Het
Lmtk2	C	A	5: 144,176,261	D1266E	probably damaging	Het
Lrrtm1	C	A	6: 77,244,824	N421K	possibly damaging	Het
Ly9	G	A	1: 171,605,019	T142I	probably benign	Het
Manba	A	G	3: 135,518,003	Y217C	probably damaging	Het
Mapkbp1	T	C	2: 120,014,628	L330P	probably damaging	Het
March2	A	T	17: 33,696,191	V143E	probably benign	Het
Mmel1	A	T	4: 154,885,021	D191V	possibly damaging	Het
Mrgpra1	A	T	7: 47,335,835	I32N	probably benign	Het
Mroh2b	C	T	15: 4,931,028	Q748*	probably null	Het
Mrpl34	T	G	8: 71,465,380	W66G	probably damaging	Het
Nde1	T	A	16: 14,183,582	S165T		Het
Nek10	T	G	14: 14,937,610	I776M	probably damaging	Het
Nell2	A	G	15: 95,383,671	S385P	probably damaging	Het
Nsf	A	T	11: 103,930,742	F29Y	possibly damaging	Het
Nsmaf	A	T	4: 6,433,320	Y133*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr761	A	T	17: 37,952,200	S275T	possibly damaging	Het
Pcdhb8	A	G	18: 37,356,723	I485V	probably benign	Het
Poteg	T	A	8: 27,448,005	M1K	probably null	Het
Prdm5	G	A	6: 65,883,585	V418I	possibly damaging	Het
Psmc6	T	A	14: 45,340,863	C228S	probably damaging	Het
Ptgfrn	C	T	3: 101,056,611	A562T	possibly damaging	Het
Ralgapa2	G	T	2: 146,342,219	Q1576K	probably benign	Het
Ranbp9	C	T	13: 43,414,030	G400D	probably damaging	Het
Rgs11	A	T	17: 26,204,510	I134F	probably damaging	Het
Rnf150	T	A	8: 83,036,086	C317S	probably damaging	Het
Rrm2b	G	A	15: 37,960,614		probably benign	Het
Scai	T	C	2: 39,106,966	Q272R	probably benign	Het
Sec62	C	T	3: 30,793,357	R4C	possibly damaging	Het
Sgo2b	C	A	8: 63,940,057	L115F	probably null	Het
Slc44a3	G	A	3: 121,513,807	P177S	probably damaging	Het
Slc45a4	G	A	15: 73,586,117	L528F	probably damaging	Het
Slco1a1	G	T	6: 141,911,898	A569D	probably damaging	Het
Stam2	G	T	2: 52,714,972	Q184K	probably damaging	Het
Tada2b	A	T	5: 36,483,822	L79Q	probably damaging	Het
Tecpr1	T	C	5: 144,216,299	E204G	possibly damaging	Het
Tecta	A	T	9: 42,373,301	D829E	probably benign	Het
Tepsin	A	G	11: 120,091,828	V472A	probably benign	Het
Tnfrsf1a	G	A	6: 125,357,725	M109I	possibly damaging	Het
Trim42	A	T	9: 97,363,222	Y508*	probably null	Het
Trmo	T	G	4: 46,387,625	N65T	probably benign	Het
Tspear	G	T	10: 77,829,637	E86*	probably null	Het
Ubr1	A	T	2: 120,904,042	S1126T	probably damaging	Het
Usp50	C	A	2: 126,780,557	D28Y	probably damaging	Het
Utp6	T	A	11: 79,951,629	I225F	probably benign	Het
Utrn	T	C	10: 12,667,607	T1766A	probably benign	Het
Vcl	T	A	14: 20,995,092	N288K	probably benign	Het
Vmn2r69	T	C	7: 85,412,455	N104D	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zfhx4	T	A	3: 5,390,424	S1159R	probably benign	Het

Other mutations in Golga4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00711:Golga4	APN	9	118514271	critical splice donor site	probably null
IGL00801:Golga4	APN	9	118538926	missense	probably damaging	0.98
IGL01395:Golga4	APN	9	118535373	missense	probably damaging	1.00
IGL01472:Golga4	APN	9	118532574	missense	probably damaging	1.00
IGL01519:Golga4	APN	9	118527092	missense	probably damaging	1.00
IGL01563:Golga4	APN	9	118527006	splice site	probably benign
IGL02593:Golga4	APN	9	118555566	unclassified	probably benign
IGL02803:Golga4	APN	9	118535460	missense	probably benign
IGL02939:Golga4	APN	9	118535454	missense	probably benign	0.01
IGL02939:Golga4	APN	9	118534632	missense	probably damaging	1.00
IGL03123:Golga4	APN	9	118536885	missense	probably damaging	1.00
IGL03334:Golga4	APN	9	118537233	splice site	probably benign
F5770:Golga4	UTSW	9	118556075	missense	possibly damaging	0.62
F6893:Golga4	UTSW	9	118553457	missense	probably damaging	1.00
PIT4382001:Golga4	UTSW	9	118553453	missense	possibly damaging	0.88
R0179:Golga4	UTSW	9	118560740	critical splice acceptor site	probably null
R0279:Golga4	UTSW	9	118568993	missense	probably benign	0.00
R0362:Golga4	UTSW	9	118555785	missense	probably benign	0.13
R0973:Golga4	UTSW	9	118537273	missense	probably damaging	1.00
R0973:Golga4	UTSW	9	118537273	missense	probably damaging	1.00
R0974:Golga4	UTSW	9	118537273	missense	probably damaging	1.00
R1128:Golga4	UTSW	9	118548784	missense	probably benign	0.40
R1384:Golga4	UTSW	9	118565651	missense	probably damaging	0.99
R1435:Golga4	UTSW	9	118535440	missense	probably benign	0.00
R1513:Golga4	UTSW	9	118555732	missense	probably benign	0.02
R1818:Golga4	UTSW	9	118572987	missense	probably damaging	1.00
R2083:Golga4	UTSW	9	118532590	missense	probably damaging	1.00
R2243:Golga4	UTSW	9	118556904	missense	probably benign	0.06
R2355:Golga4	UTSW	9	118560742	missense	probably benign	0.00
R2518:Golga4	UTSW	9	118556612	missense	probably damaging	1.00
R2921:Golga4	UTSW	9	118559343	missense	possibly damaging	0.49
R2922:Golga4	UTSW	9	118559343	missense	possibly damaging	0.49
R2923:Golga4	UTSW	9	118559343	missense	possibly damaging	0.49
R3121:Golga4	UTSW	9	118557380	missense	possibly damaging	0.68
R3424:Golga4	UTSW	9	118534647	missense	probably benign	0.16
R3909:Golga4	UTSW	9	118558736	missense	possibly damaging	0.82
R3913:Golga4	UTSW	9	118538971	missense	probably damaging	0.99
R4321:Golga4	UTSW	9	118556435	missense	probably damaging	1.00
R4358:Golga4	UTSW	9	118551878	missense	probably benign	0.16
R4483:Golga4	UTSW	9	118514186	missense	probably damaging	1.00
R4515:Golga4	UTSW	9	118559008	missense	probably benign	0.28
R4518:Golga4	UTSW	9	118559008	missense	probably benign	0.28
R4519:Golga4	UTSW	9	118559008	missense	probably benign	0.28
R4545:Golga4	UTSW	9	118556845	missense	probably damaging	1.00
R4546:Golga4	UTSW	9	118556845	missense	probably damaging	1.00
R4580:Golga4	UTSW	9	118557259	missense	probably benign	0.00
R4918:Golga4	UTSW	9	118558145	missense	probably damaging	1.00
R5007:Golga4	UTSW	9	118558300	missense	probably benign
R5045:Golga4	UTSW	9	118565656	missense	probably benign
R5232:Golga4	UTSW	9	118506558	critical splice donor site	probably null
R5256:Golga4	UTSW	9	118556501	missense	possibly damaging	0.93
R5502:Golga4	UTSW	9	118559057	nonsense	probably null
R5567:Golga4	UTSW	9	118558183	missense	probably damaging	1.00
R5576:Golga4	UTSW	9	118553534	missense	probably benign	0.13
R5771:Golga4	UTSW	9	118558283	missense	probably damaging	0.96
R5807:Golga4	UTSW	9	118527130	missense	probably damaging	0.99
R5860:Golga4	UTSW	9	118558106	missense	probably damaging	1.00
R6012:Golga4	UTSW	9	118559696	missense	possibly damaging	0.90
R6285:Golga4	UTSW	9	118558627	nonsense	probably null
R6299:Golga4	UTSW	9	118557370	missense	probably benign	0.03
R6467:Golga4	UTSW	9	118536792	missense	probably damaging	1.00
R6552:Golga4	UTSW	9	118514231	missense	probably damaging	1.00
R6688:Golga4	UTSW	9	118514210	missense	possibly damaging	0.66
R6965:Golga4	UTSW	9	118548779	missense	probably damaging	1.00
R6987:Golga4	UTSW	9	118558532	missense	probably benign
R7212:Golga4	UTSW	9	118536840	missense	possibly damaging	0.80
R7426:Golga4	UTSW	9	118559495	missense	probably benign
R7431:Golga4	UTSW	9	118559731	missense	probably damaging	1.00
R7641:Golga4	UTSW	9	118557575	missense	probably benign	0.05
R7727:Golga4	UTSW	9	118548702	missense	probably damaging	1.00
R7729:Golga4	UTSW	9	118556063	missense	possibly damaging	0.51
R7811:Golga4	UTSW	9	118532575	missense	probably damaging	1.00
R7849:Golga4	UTSW	9	118559311	missense	possibly damaging	0.93
R7891:Golga4	UTSW	9	118556366	missense	probably damaging	1.00
R7976:Golga4	UTSW	9	118536768	missense	possibly damaging	0.49
R8275:Golga4	UTSW	9	118532559	missense	probably damaging	1.00
R8378:Golga4	UTSW	9	118558322	missense	probably benign	0.03
R8514:Golga4	UTSW	9	118555796	missense	possibly damaging	0.47
R8698:Golga4	UTSW	9	118555961	missense	probably damaging	0.97
R9227:Golga4	UTSW	9	118556873	missense	possibly damaging	0.94
R9282:Golga4	UTSW	9	118556825	missense	probably damaging	1.00
RF022:Golga4	UTSW	9	118557989	missense	probably damaging	1.00
V7583:Golga4	UTSW	9	118556075	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TCAGAGAGCTCAAGTGCAGC -3'
(R):5'- GTGCCATTTCCAGGATCTGC -3'

Sequencing Primer
(F):5'- TCACAGCTCAAGAACAGTACTGTGG -3'
(R):5'- CAGGATCTGCGCATTGAACTG -3'

Posted On

2021-07-15