Mutagenetix > Incidental Mutation

Incidental Mutation 'R5007:Golga4'

390223

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

042598-MU

Accession Numbers

Genbank: NM_018748; MGI: 1859646

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118506267-118582519 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 118558300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 1497 (C1497G)

Ref Sequence

ENSEMBL: ENSMUSP00000081880 (fasta)

Gene Model

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

AlphaFold

Q91VW5

Predicted Effect

probably benign
Transcript: ENSMUST00000084820
AA Change: C1497G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: C1497G

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: C507G

Predicted Effect

probably benign
Transcript: ENSMUST00000212097

Predicted Effect

probably benign
Transcript: ENSMUST00000212183

Predicted Effect

probably benign
Transcript: ENSMUST00000212274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212913

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.6%

Validation Efficiency

99% (89/90)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,578,767	T242R	probably damaging	Het
Abca8b	T	C	11: 109,936,764	T1473A	probably damaging	Het
Adam22	T	C	5: 8,167,393	Y134C	probably damaging	Het
Alg9	T	A	9: 50,788,224	M183K	probably damaging	Het
Ambra1	T	C	2: 91,772,310	I213T	possibly damaging	Het
Ankrd55	T	A	13: 112,367,932	V376D	probably benign	Het
Ano4	A	C	10: 89,112,945	V166G	probably benign	Het
Aox3	T	A	1: 58,163,424	C730S	probably benign	Het
Apc	T	A	18: 34,312,963	Y953N	probably damaging	Het
Ass1	T	C	2: 31,501,532	F273S	possibly damaging	Het
Atg2b	T	C	12: 105,643,876		probably null	Het
B3gnt9	A	G	8: 105,254,490	Y89H	probably damaging	Het
Cd38	T	G	5: 43,906,164	F200V	probably damaging	Het
Cep170	G	T	1: 176,769,814	R388S	probably benign	Het
Col22a1	A	T	15: 71,944,422	D614E	probably damaging	Het
Crybg3	C	A	16: 59,558,100		probably benign	Het
Ctdp1	A	T	18: 80,420,480	S114T	probably damaging	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Dmtf1	T	C	5: 9,122,439		probably benign	Het
Dnhd1	G	A	7: 105,713,076	V3715M	probably damaging	Het
Dok1	A	T	6: 83,032,316	L185H	probably damaging	Het
Dpep1	T	C	8: 123,199,378	V152A	probably damaging	Het
Eif2ak1	G	T	5: 143,873,880	R136L	probably benign	Het
Eml5	A	T	12: 98,830,965	S1063T	probably damaging	Het
Fam171b	T	A	2: 83,855,509	L179*	probably null	Het
Fam213b	A	G	4: 154,897,074		probably null	Het
Flot1	G	T	17: 35,824,375		probably benign	Het
Fmn2	A	T	1: 174,744,300	H1491L	probably damaging	Het
Frem1	C	T	4: 82,940,812		probably benign	Het
Gdf2	A	G	14: 33,944,906	D195G	probably benign	Het
Gpaa1	T	A	15: 76,331,668	C33*	probably null	Het
Hectd1	A	T	12: 51,802,660	C254S	possibly damaging	Het
Hspa1b	C	T	17: 34,958,110	A300T	probably benign	Het
Igf2bp2	A	G	16: 22,079,496	I233T	probably damaging	Het
Iqce	C	A	5: 140,675,248	A491S	possibly damaging	Het
Irak3	A	G	10: 120,146,429		probably null	Het
Kcnip1	T	A	11: 33,642,495	H124L	probably benign	Het
Klhdc10	G	A	6: 30,450,641	R393Q	probably benign	Het
Klhl28	C	T	12: 64,957,227	E171K	probably damaging	Het
Map2	T	C	1: 66,413,289	V288A	possibly damaging	Het
Mdp1	C	T	14: 55,659,226	R126Q	probably damaging	Het
Meltf	A	G	16: 31,887,562	D288G	possibly damaging	Het
Mgat4e	T	A	1: 134,541,152	I385F	probably benign	Het
Mical3	A	C	6: 121,038,069	V211G	probably damaging	Het
Mlh1	A	G	9: 111,271,410	*39R	probably null	Het
Mre11a	A	G	9: 14,809,820	D345G	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Nat1	T	G	8: 67,491,425	L154R	probably benign	Het
Nlrp4a	A	G	7: 26,462,480	D851G	probably damaging	Het
Npas4	A	C	19: 4,989,656	V54G	possibly damaging	Het
Olfr702	T	C	7: 106,824,157	Y123C	probably damaging	Het
Pcbp4	G	A	9: 106,462,093	G100R	probably damaging	Het
Pcdh17	A	G	14: 84,533,297	T1072A	probably benign	Het
Pcdh18	T	C	3: 49,754,457	N803S	probably benign	Het
Ppat	C	T	5: 76,928,678		probably benign	Het
Ppm1l	T	A	3: 69,317,598	L11Q	probably damaging	Het
Pram1	T	A	17: 33,645,437	V658E	probably damaging	Het
Prr12	C	T	7: 45,049,801		probably benign	Het
Ptprq	A	G	10: 107,608,276	V1489A	probably benign	Het
Ryr1	T	A	7: 29,069,115	I2817F	probably damaging	Het
Sall2	A	G	14: 52,314,493	L413P	probably damaging	Het
Slc7a9	T	A	7: 35,454,129	M185K	probably benign	Het
Stag2	C	T	X: 42,266,253	H1149Y	possibly damaging	Het
Timm10b	T	A	7: 105,641,091	Y64N	probably damaging	Het
Tmem30c	T	C	16: 57,266,505	T312A	probably benign	Het
Tmem9b	G	T	7: 109,745,343	C17*	probably null	Het
Vmn2r68	C	A	7: 85,232,414	R486L	probably benign	Het
Xkr9	T	A	1: 13,701,163	I301N	probably damaging	Het
Xpo7	T	C	14: 70,688,264	Q446R	probably damaging	Het
Ythdf3	T	C	3: 16,205,198	V503A	possibly damaging	Het
Zfp280b	T	A	10: 76,039,214	V309D	probably damaging	Het
Zfp53	T	A	17: 21,509,510	C602S	probably benign	Het
Zfp616	A	T	11: 74,083,817	N395I	possibly damaging	Het
Zfp644	T	C	5: 106,636,001	I862M	probably benign	Het
Zfp715	T	C	7: 43,299,595	T314A	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
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
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'- CTGAGTAAAGAGAAAATGTCTGCCC -3'
(R):5'- TGAAGTCTCTGAACCAGCCC -3'

Sequencing Primer
(F):5'- AAATGTCTGCCCTTGAGCAG -3'
(R):5'- TCTGAACCAGCCCACTGTG -3'

Posted On

2016-06-06