Mutagenetix > Incidental Mutation

Incidental Mutation 'R7849:Golga4'

606822

Institutional Source

Beutler Lab

Gene Symbol

Golga4

Ensembl Gene

ENSMUSG00000038708

Gene Name

golgi autoantigen, golgin subfamily a, 4

Synonyms

golgin-245, Olp-1

Accession Numbers

Genbank: NM_018748; MGI: 1859646

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7849 (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 T at 118559311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1834 (N1834Y)

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: N1834Y

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: N1834Y

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: ENSMUST00000212097

Predicted Effect

probably benign
Transcript: ENSMUST00000212183

Predicted Effect

probably benign
Transcript: ENSMUST00000212274

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,026,328	I325N		Het
Agap1	T	C	1: 89,630,419	V143A	probably damaging	Het
Agmo	A	G	12: 37,242,045	R2G	probably benign	Het
Alms1	A	T	6: 85,621,497	I1102L	possibly damaging	Het
Ankrd13a	T	C	5: 114,791,282	I140T	possibly damaging	Het
Arhgef10l	T	A	4: 140,583,934		probably null	Het
Atxn2l	A	T	7: 126,493,173	H967Q	possibly damaging	Het
B3galnt2	A	T	13: 13,994,492	N370I	probably benign	Het
BC053393	T	A	11: 46,577,231	I44K	not run	Het
Cacna1e	C	T	1: 154,633,718	D264N	probably damaging	Het
Ccdc112	A	T	18: 46,296,323	Y103N	probably benign	Het
Ccdc68	A	C	18: 69,947,175	E197A	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 61,184,524		probably benign	Het
Cntn3	T	C	6: 102,265,431	M418V	probably benign	Het
Cpne4	T	A	9: 104,686,519	C32S	probably damaging	Het
Csf2rb2	A	T	15: 78,284,421	S845T	probably benign	Het
Ctnnd2	T	G	15: 31,027,587	V1219G	probably damaging	Het
Cyp4f14	G	A	17: 32,909,351	A230V	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,183,923		probably null	Het
Dmxl1	T	A	18: 49,961,147	C2897S	probably benign	Het
Elavl2	T	A	4: 91,372,043		probably benign	Het
Fam135a	T	C	1: 24,044,250	E298G	probably damaging	Het
Fbn1	A	T	2: 125,309,485	I2534N	probably damaging	Het
Fibin	A	G	2: 110,362,480	S106P	probably damaging	Het
Fndc3a	C	T	14: 72,564,660	V568M	probably benign	Het
Frem2	A	G	3: 53,572,374	F1966S	probably damaging	Het
Gata4	T	G	14: 63,204,725	E216A	possibly damaging	Het
Gmps	T	A	3: 64,015,563	V649E	probably benign	Het
Gpr89	A	T	3: 96,871,490	Y422*	probably null	Het
Gzmc	A	T	14: 56,232,372	F157Y	probably benign	Het
Hdhd2	A	G	18: 76,965,266	D204G	probably damaging	Het
Hspa4	T	G	11: 53,280,703	T225P	possibly damaging	Het
Ikbkap	A	T	4: 56,758,968	S1191T	possibly damaging	Het
Klhl30	T	A	1: 91,359,337	D448E	probably benign	Het
Kptn	A	G	7: 16,120,041	Y28C	probably damaging	Het
Krt10	A	T	11: 99,387,606	N242K	probably damaging	Het
Krt6b	A	T	15: 101,678,574	N254K	probably damaging	Het
Lama5	G	T	2: 180,201,812	D447E	probably damaging	Het
Lgr6	T	C	1: 134,987,681	Y720C	probably damaging	Het
Macf1	G	C	4: 123,407,599	P1037A	probably benign	Het
Map3k19	C	T	1: 127,823,646	G656D	probably benign	Het
Mroh7	A	C	4: 106,721,090	N130K	probably benign	Het
Muc16	T	C	9: 18,640,505	T4831A	probably benign	Het
Nfkb1	A	T	3: 135,585,412	L533H		Het
Oaf	G	A	9: 43,222,780	R215C	probably damaging	Het
Olfr1033	G	A	2: 86,041,605	V97I	probably benign	Het
Olfr1265	A	G	2: 90,037,282	Y121C	probably damaging	Het
Olfr151	A	G	9: 37,730,707	I92T	probably damaging	Het
Olfr639	C	A	7: 104,012,303	R133L	possibly damaging	Het
Olfr971	A	G	9: 39,840,322	D296G	possibly damaging	Het
Otub1	T	C	19: 7,200,060	D74G	probably damaging	Het
Oxct2b	A	G	4: 123,116,887	E200G	probably damaging	Het
Pcdh1	T	C	18: 38,189,609	D1057G	probably benign	Het
Pkd1	T	A	17: 24,586,200	V3242E	probably damaging	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 109,623,788		probably benign	Het
Pla2g4e	T	A	2: 120,185,322	D247V	probably benign	Het
Pole	T	A	5: 110,332,548	M1995K	probably benign	Het
Ppargc1a	T	C	5: 51,548,513	E76G	probably benign	Het
Pten	G	T	19: 32,799,996	R130L	probably damaging	Het
Ptprj	A	T	2: 90,444,460	V1186D	probably damaging	Het
Rab4a	T	A	8: 123,806,137	M1K	probably null	Het
Rapgef3	C	A	15: 97,758,390		probably null	Het
Rarb	C	A	14: 16,548,473	V83F	probably damaging	Het
Rgs22	A	T	15: 36,099,712	F410I	probably damaging	Het
Rhpn2	A	C	7: 35,381,487	E459A	probably benign	Het
Rims4	A	T	2: 163,864,054	L220Q	probably damaging	Het
Robo2	T	C	16: 73,973,244	T531A	possibly damaging	Het
Sbf2	T	C	7: 110,372,510	H839R	probably damaging	Het
Setbp1	T	C	18: 78,856,853	R1200G	probably benign	Het
Slc12a8	C	A	16: 33,624,560	P275T	probably damaging	Het
Slc23a1	G	T	18: 35,624,501	T239N	probably benign	Het
Slc37a3	T	A	6: 39,364,583	T40S	possibly damaging	Het
Speer4c	T	C	5: 15,710,927		probably null	Het
Tet1	A	T	10: 62,819,473	H1556Q	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,595	D454E	probably damaging	Het
Tmem123	A	T	9: 7,790,889	M64L	probably benign	Het
Tmem62	A	T	2: 120,984,372	H172L	probably benign	Het
Trim15	T	G	17: 36,866,872	Y77S	probably benign	Het
Trim37	T	A	11: 87,201,444	V693E	possibly damaging	Het
Trim65	A	G	11: 116,126,256	L460S	probably damaging	Het
Ttc39a	T	C	4: 109,422,490	V109A	probably benign	Het
Ttc7	A	G	17: 87,292,946	M163V	probably null	Het
Vps13b	T	C	15: 35,423,232	S233P	probably damaging	Het
Vwf	T	C	6: 125,656,803	L2084P		Het
Wasl	A	G	6: 24,633,923	V114A	possibly damaging	Het
Wdr5	A	G	2: 27,519,451	S62G	probably damaging	Het
Wfdc11	G	T	2: 164,665,525	S4*	probably null	Het
Wfikkn2	C	A	11: 94,238,984	M110I	probably benign	Het
Wiz	T	G	17: 32,357,786	E588A	probably benign	Het
Xylt1	A	G	7: 117,656,668	H821R	probably benign	Het
Zbtb7c	A	T	18: 76,145,701	H410L	probably benign	Het
Zc3h18	T	A	8: 122,383,971	D186E	probably damaging	Het
Zfp687	G	T	3: 95,010,362	L700I	possibly damaging	Het
Zmym2	T	A	14: 56,946,563	M994K	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
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
R8856:Golga4	UTSW	9	118556711	missense	probably damaging	0.98
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'- AGAAAGACTCTGCATGCTGC -3'
(R):5'- CATTTCTTGCTGGGAAGATTGC -3'

Sequencing Primer
(F):5'- CATGCTGCAAAGACGTTTAAGTG -3'
(R):5'- CTTGCTGGGAAGATTGCGATTTTTC -3'

Posted On

2019-12-20