Mutagenetix > Incidental Mutation

Incidental Mutation 'R8698:Golga4'

668857

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118506267-118582519 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 118555961 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 717 (L717R)

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: L717R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: L717R

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

probably damaging
Transcript: ENSMUST00000212097
AA Change: L689R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; 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: 99.5%
20x: 98.3%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	G	15: 102,338,815		probably benign	Het
Adamtsl1	A	G	4: 86,388,477	N1384S	probably benign	Het
Adgre1	T	C	17: 57,402,003	S65P	probably benign	Het
Adgrl4	G	T	3: 151,497,875	C124F	probably damaging	Het
Aldh1b1	G	A	4: 45,802,942	G160D	probably damaging	Het
Alpi	T	G	1: 87,100,486	D205A	probably damaging	Het
AW146154	C	A	7: 41,480,510	R394L	probably benign	Het
Bcl10	G	A	3: 145,933,267	M221I	probably benign	Het
Brpf3	G	A	17: 28,818,462	R768H	probably damaging	Het
Cad	G	T	5: 31,077,475	R2116L	probably benign	Het
Cand2	G	T	6: 115,786,891	R258L	probably damaging	Het
Car4	A	T	11: 84,964,183	N119I	probably benign	Het
Carmil1	C	T	13: 24,036,246	G1165D	probably damaging	Het
Ccdc66	T	C	14: 27,490,690	T403A	probably benign	Het
Cdon	T	G	9: 35,486,973		probably null	Het
Cemip	T	C	7: 83,958,582	I739V	probably damaging	Het
Cep85l	A	G	10: 53,358,105	I59T	probably damaging	Het
Clec4f	A	T	6: 83,653,285	V97D	probably benign	Het
Cnot6l	A	G	5: 96,077,290	C515R	probably damaging	Het
Cntnap2	G	A	6: 47,049,222	G935D	probably damaging	Het
Cntrl	A	G	2: 35,133,962	H553R	probably damaging	Het
Cops3	A	G	11: 59,818,060	S423P	probably damaging	Het
Cox15	C	T	19: 43,751,509	R39H	probably benign	Het
Ctnna2	A	G	6: 77,653,117	V131A	probably benign	Het
Dcst2	T	A	3: 89,368,737	F392I	probably benign	Het
Decr1	A	G	4: 15,922,483		probably null	Het
Dennd3	A	C	15: 73,522,305	T60P	possibly damaging	Het
Dmxl2	T	C	9: 54,374,669	N2859S	probably benign	Het
Dnah12	A	T	14: 26,707,263	I280F	probably benign	Het
Dnah8	A	C	17: 30,875,035	D4701A	probably damaging	Het
Dyrk1a	C	A	16: 94,686,555	H541Q	possibly damaging	Het
Eml4	T	C	17: 83,477,916	S906P	probably benign	Het
Fam129c	T	A	8: 71,607,515	I93N	unknown	Het
Fam169a	G	T	13: 97,107,070	V203F	probably damaging	Het
Fam69a	A	T	5: 107,909,910	F261I	probably damaging	Het
Fmn1	C	T	2: 113,429,807	L682F	unknown	Het
Gli2	T	C	1: 118,842,157	Y555C	probably damaging	Het
Gm3278	A	G	14: 4,894,467	Y130C	possibly damaging	Het
Gm8237	T	A	14: 5,863,554	Y37F	probably damaging	Het
Gtpbp4	C	T	13: 8,974,213	R568H	probably benign	Het
Il1f10	A	G	2: 24,293,185	N47S	probably damaging	Het
Itga6	A	G	2: 71,843,274	H884R	probably benign	Het
Kdm1a	T	C	4: 136,559,207	K482R	probably benign	Het
Klk12	T	C	7: 43,769,689	V26A	probably benign	Het
Lrp2	T	A	2: 69,448,239	R3923S	probably benign	Het
Lrp2	C	T	2: 69,458,423	V3700M	probably benign	Het
Lrrk2	A	G	15: 91,752,197	D1458G	probably benign	Het
Mapre2	T	A	18: 23,878,033	S233T	probably benign	Het
Mki67	T	C	7: 135,695,208	D2699G	possibly damaging	Het
Mthfr	T	A	4: 148,044,490	Y214*	probably null	Het
Ncoa6	A	T	2: 155,415,121	M834K	possibly damaging	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Olfr1535	G	A	13: 21,555,720	L101F	probably damaging	Het
Olfr344	T	C	2: 36,568,903	Y102H	possibly damaging	Het
Olfr698	A	T	7: 106,753,364	V8E	probably benign	Het
P2ry14	A	G	3: 59,115,175	V288A	possibly damaging	Het
Pde6b	G	T	5: 108,428,239	S730I	possibly damaging	Het
Pdpk1	A	T	17: 24,079,568	V496D	probably damaging	Het
Plekho2	A	T	9: 65,556,272	L432M	probably damaging	Het
Ppa2	T	C	3: 133,376,601	L151P	unknown	Het
Ppp2r3c	G	A	12: 55,281,714	T422I	probably benign	Het
Prelid3a	T	C	18: 67,477,052	S151P	probably damaging	Het
Rad21l	G	A	2: 151,645,453	P537L	probably damaging	Het
Sacs	T	A	14: 61,213,353	S4283T	probably benign	Het
Samd9l	A	T	6: 3,373,843	D1139E	probably benign	Het
Scn9a	G	T	2: 66,536,284	H718Q	probably benign	Het
Slc1a3	A	T	15: 8,639,152	I443N	probably damaging	Het
Slc22a6	A	G	19: 8,623,525	M361V	probably benign	Het
Slc8a2	A	G	7: 16,157,207	Y724C	probably damaging	Het
Slf1	A	T	13: 77,049,165	S777T	possibly damaging	Het
Sltm	T	C	9: 70,587,070	S901P	probably benign	Het
Smc1b	A	T	15: 85,112,846	H524Q	probably benign	Het
Spast	T	C	17: 74,359,346	S225P	probably benign	Het
Srsf12	C	T	4: 33,231,246	R252W	probably damaging	Het
Syne1	A	G	10: 5,229,229	L4415P	probably damaging	Het
Tmem117	A	T	15: 94,638,109	Y8F	probably benign	Het
Tmem241	T	C	18: 12,064,231	D180G	possibly damaging	Het
Tomm40	C	T	7: 19,710,965	V164I	probably benign	Het
Ttc41	T	C	10: 86,712,977	Y12H	probably benign	Het
Twnk	T	C	19: 45,007,860	V244A	probably benign	Het
Ugt1a8	T	C	1: 88,088,230	S122P	probably damaging	Het
Vmn1r78	A	G	7: 12,152,612	K50R	probably benign	Het
Vmn2r10	A	G	5: 109,003,524	F75L	probably benign	Het
Wbp4	G	T	14: 79,470,133	Y179*	probably null	Het
Zfp106	A	G	2: 120,524,119		probably null	Het
Zfp974	A	T	7: 27,910,936	C455S	possibly damaging	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
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'- CTGAGAGACTCCAAAGCCTCTCTC -3'
(R):5'- AGCCGACTGAGCTCATCTTTC -3'

Sequencing Primer
(F):5'- TCTCTCAGCAGCATCAGGC -3'
(R):5'- TGAGCTCATCTTTCAGTGCC -3'

Posted On

2021-04-30