Mutagenetix > Incidental Mutations

Incidental Mutation 'R0659:Golga5'

61797

Institutional Source

Beutler Lab

Gene Symbol

Golga5

Ensembl Gene

ENSMUSG00000021192

Gene Name

golgi autoantigen, golgin subfamily a, 5

Synonyms

Ret-II

MMRRC Submission

038844-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0659 (G1)

Quality Score

106

Status

Validated

Chromosome

Chromosomal Location

102469135-102497907 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102476208 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 269 (V269F)

Ref Sequence

ENSEMBL: ENSMUSP00000137305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021609] [ENSMUST00000179218]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021609
AA Change: V269F

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021609
Gene: ENSMUSG00000021192
AA Change: V269F

Domain	Start	End	E-Value	Type
low complexity region	148	167	N/A	INTRINSIC
low complexity region	193	213	N/A	INTRINSIC
Pfam:Golgin_A5	233	709	1.1e-172	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179218
AA Change: V269F

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137305
Gene: ENSMUSG00000021192
AA Change: V269F

Domain	Start	End	E-Value	Type
low complexity region	148	167	N/A	INTRINSIC
low complexity region	193	213	N/A	INTRINSIC
Pfam:Golgin_A5	233	709	1.1e-172	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.6%

Validation Efficiency

99% (72/73)

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 is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous knockout does not result in an obvious phenotype and does not affect Golgi apparatus morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,007,493		probably benign	Het
Ahnak	A	G	19: 9,015,002	H4550R	possibly damaging	Het
Anxa6	A	G	11: 54,983,347	V591A	probably damaging	Het
Apol7c	A	G	15: 77,526,273	S158P	probably damaging	Het
Asxl1	T	A	2: 153,400,724	S1065T	possibly damaging	Het
Cacna2d4	A	G	6: 119,345,106		probably benign	Het
Cd109	T	C	9: 78,680,170		probably benign	Het
Cep78	C	T	19: 15,956,190	V675M	probably damaging	Het
Ces4a	T	C	8: 105,144,922		probably benign	Het
Chpf	A	G	1: 75,477,723	V137A	probably damaging	Het
Comp	T	C	8: 70,379,101	S457P	possibly damaging	Het
Cth	A	G	3: 157,920,115		probably benign	Het
Cyp2a12	T	C	7: 27,034,138	L314P	probably damaging	Het
Ets1	C	T	9: 32,738,293	R309C	probably damaging	Het
Fam208b	T	C	13: 3,574,448	D1834G	probably damaging	Het
Foxp2	T	C	6: 15,254,279		probably benign	Het
Gm9875	T	G	2: 13,558,184	F108V	unknown	Het
Greb1	T	C	12: 16,680,212	Y1738C	probably damaging	Het
Grin2a	G	T	16: 9,992,472	P21Q	probably damaging	Het
Hdac5	A	T	11: 102,196,024	V70E	probably damaging	Het
Hdac9	T	C	12: 34,437,222	Q60R	probably damaging	Het
Hsd17b3	T	C	13: 64,073,936	T92A	possibly damaging	Het
Itpk1	C	T	12: 102,606,078		probably benign	Het
Lin28a	T	C	4: 134,008,099		probably benign	Het
Mapk6	T	C	9: 75,397,962	S58G	probably damaging	Het
Mmp21	G	A	7: 133,677,667		probably benign	Het
Mroh2a	G	A	1: 88,250,342	D1053N	probably damaging	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Msh3	T	C	13: 92,345,096	N303D	possibly damaging	Het
Mto1	T	A	9: 78,457,508	I343N	probably damaging	Het
Mto1	C	T	9: 78,470,790	T638M	probably damaging	Het
Myo18b	T	C	5: 112,760,327	K2027E	possibly damaging	Het
Myo7a	T	C	7: 98,054,338		probably benign	Het
Nlrp9a	T	C	7: 26,557,278	I107T	probably damaging	Het
Olfr181	C	A	16: 58,926,409	R54L	possibly damaging	Het
Olfr970	T	G	9: 39,819,816	M59R	possibly damaging	Het
Osbpl5	A	G	7: 143,705,030	S268P	probably damaging	Het
Pih1d1	T	A	7: 45,159,975	S289T	probably benign	Het
Pik3c2b	A	G	1: 133,071,200	D353G	probably damaging	Het
Ppef2	A	G	5: 92,230,509	L609P	probably damaging	Het
Prune2	A	T	19: 17,122,835	D1901V	probably damaging	Het
Rdh9	T	C	10: 127,776,575	Y31H	possibly damaging	Het
Slc5a9	T	A	4: 111,883,871	Y526F	possibly damaging	Het
Slitrk5	A	G	14: 111,680,689	K582E	probably benign	Het
Sult1c2	A	T	17: 53,831,778	M257K	probably damaging	Het
Tmem132d	A	G	5: 127,984,287	I417T	possibly damaging	Het
Tmem229b	T	C	12: 78,965,134	T8A	probably benign	Het
Tmem237	T	C	1: 59,114,094	I89M	possibly damaging	Het
Tnfrsf17	A	T	16: 11,319,819	D140V	probably damaging	Het
Tnrc6b	T	A	15: 80,923,446		probably benign	Het
Trio	A	G	15: 27,831,399	L194P	probably damaging	Het
Vmn2r74	T	C	7: 85,955,914		probably benign	Het
Vps13c	T	A	9: 67,920,935	M1457K	probably benign	Het
Zfhx2	A	G	14: 55,073,801	C479R	possibly damaging	Het
Zfp420	T	A	7: 29,875,539	C395S	probably damaging	Het
Zfp740	A	G	15: 102,212,659	T136A	possibly damaging	Het
Zfp82	C	T	7: 30,056,329	E443K	probably damaging	Het
Zranb2	A	G	3: 157,541,763	S193G	probably benign	Het

Other mutations in Golga5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Golga5	APN	12	102493814	missense	probably damaging	0.99
IGL01487:Golga5	APN	12	102495696	intron	probably benign
IGL01585:Golga5	APN	12	102479695	missense	probably benign
IGL01901:Golga5	APN	12	102479802	critical splice donor site	probably null
IGL02063:Golga5	APN	12	102472159	missense	probably benign	0.00
IGL02118:Golga5	APN	12	102495752	missense	possibly damaging	0.67
IGL02568:Golga5	APN	12	102472079	missense	probably benign	0.33
BB007:Golga5	UTSW	12	102484422	missense	probably benign	0.31
BB017:Golga5	UTSW	12	102484422	missense	probably benign	0.31
FR4976:Golga5	UTSW	12	102475660	splice site	probably null
R0244:Golga5	UTSW	12	102476188	missense	probably benign
R0432:Golga5	UTSW	12	102476208	missense	possibly damaging	0.50
R0552:Golga5	UTSW	12	102484493	missense	possibly damaging	0.75
R1244:Golga5	UTSW	12	102472295	missense	probably benign	0.01
R1542:Golga5	UTSW	12	102474720	missense	probably damaging	1.00
R1791:Golga5	UTSW	12	102492131	missense	possibly damaging	0.48
R2310:Golga5	UTSW	12	102492161	missense	probably damaging	0.99
R5110:Golga5	UTSW	12	102472077	missense	probably benign	0.02
R5704:Golga5	UTSW	12	102489448	missense	probably benign	0.00
R6228:Golga5	UTSW	12	102484481	missense	probably benign	0.00
R6229:Golga5	UTSW	12	102484481	missense	probably benign	0.00
R6241:Golga5	UTSW	12	102472473	missense	probably damaging	0.96
R7236:Golga5	UTSW	12	102474775	critical splice donor site	probably null
R7355:Golga5	UTSW	12	102472235	missense	possibly damaging	0.83
R7404:Golga5	UTSW	12	102484519	missense	probably damaging	0.97
R7493:Golga5	UTSW	12	102484576	critical splice donor site	probably null
R7930:Golga5	UTSW	12	102484422	missense	probably benign	0.31
R8062:Golga5	UTSW	12	102484480	missense	probably benign
R8231:Golga5	UTSW	12	102472299	missense	probably benign
R8765:Golga5	UTSW	12	102479704	missense	probably benign	0.01
Z1177:Golga5	UTSW	12	102472005	start gained	probably benign
Z1187:Golga5	UTSW	12	102474594	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GGTTCCGTTGGGACAGTGAGAATAG -3'
(R):5'- TCGTCTTTCTGTATTAGCAGAGTTGCC -3'

Sequencing Primer
(F):5'- AGAGTATTTCCTGAAACCCTGTG -3'
(R):5'- ATTAGCAGAGTTGCCTACCG -3'

Posted On

2013-07-30