Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02063:Golga5'

185521

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Golga5

Ensembl Gene

ENSMUSG00000021192

Gene Name

golgin A5

Synonyms

Ret-II

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02063

Quality Score

Status

Chromosome

Chromosomal Location

102435394-102464166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102438418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 44 (E44D)

Ref Sequence

ENSEMBL: ENSMUSP00000137305 (fasta)

Gene Model

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

AlphaFold

Q9QYE6

Predicted Effect

probably benign
Transcript: ENSMUST00000021609
AA Change: E44D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021609
Gene: ENSMUSG00000021192
AA Change: E44D

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

probably benign
Transcript: ENSMUST00000179218
AA Change: E44D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000137305
Gene: ENSMUSG00000021192
AA Change: E44D

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

noncoding transcript
Transcript: ENSMUST00000222873

Coding Region Coverage

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 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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	A	G	12: 105,614,581 (GRCm39)	Y1117H	possibly damaging	Het
B020004C17Rik	A	G	14: 57,253,480 (GRCm39)	R24G	probably damaging	Het
BC005624	A	G	2: 30,868,946 (GRCm39)	M76T	probably benign	Het
Blm	G	T	7: 80,159,167 (GRCm39)	S323*	probably null	Het
Card19	C	A	13: 49,356,607 (GRCm39)	G181*	probably null	Het
Cilp2	T	C	8: 70,335,515 (GRCm39)	I494M	probably damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,934,617 (GRCm39)	D1431G	probably benign	Het
Cped1	G	A	6: 22,138,701 (GRCm39)	C560Y	probably damaging	Het
Cyfip1	T	C	7: 55,576,096 (GRCm39)	S1091P	probably damaging	Het
Ddx24	A	G	12: 103,384,461 (GRCm39)	I466T	probably damaging	Het
Dlg2	T	A	7: 91,459,684 (GRCm39)		probably benign	Het
Esf1	C	A	2: 140,006,377 (GRCm39)	D257Y	possibly damaging	Het
Fgfr2	A	G	7: 129,769,485 (GRCm39)	F634S	probably damaging	Het
Flywch2	A	G	17: 23,996,081 (GRCm39)		probably benign	Het
Gbp10	A	T	5: 105,383,906 (GRCm39)	I32N	possibly damaging	Het
Gli3	A	G	13: 15,900,957 (GRCm39)	D1448G	possibly damaging	Het
Gm10335	T	C	10: 14,399,147 (GRCm39)		probably benign	Het
H2-M10.1	C	T	17: 36,634,901 (GRCm39)		probably benign	Het
Ino80b	A	T	6: 83,101,143 (GRCm39)	D141E	probably damaging	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Krt73	C	T	15: 101,704,204 (GRCm39)		probably benign	Het
Loxl4	G	T	19: 42,596,778 (GRCm39)	L78I	probably benign	Het
Mbd5	A	T	2: 49,164,779 (GRCm39)	N360I	probably damaging	Het
Nfat5	A	T	8: 108,088,450 (GRCm39)	M495L	probably benign	Het
Nrxn3	A	T	12: 88,762,565 (GRCm39)	E204V	possibly damaging	Het
Or8k21	G	T	2: 86,145,137 (GRCm39)	F164L	possibly damaging	Het
Paqr4	A	T	17: 23,958,886 (GRCm39)	C38*	probably null	Het
Pcdhb13	T	A	18: 37,577,282 (GRCm39)	N553K	probably damaging	Het
Pcdhb9	T	A	18: 37,534,810 (GRCm39)	M268K	probably benign	Het
Pdap1	A	T	5: 145,071,869 (GRCm39)		probably benign	Het
Phf2	A	T	13: 48,975,118 (GRCm39)	Y281N	unknown	Het
Phka2	T	A	X: 159,347,209 (GRCm39)	I664N	possibly damaging	Het
Plekha7	A	T	7: 115,739,936 (GRCm39)	D762E	possibly damaging	Het
Plekhg4	T	A	8: 106,105,884 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,740,706 (GRCm39)	Q1006L	probably null	Het
Pramel12	C	A	4: 143,144,421 (GRCm39)	Q256K	probably benign	Het
Prmt5	G	A	14: 54,748,477 (GRCm39)	Q197*	probably null	Het
Prodh	A	T	16: 17,897,049 (GRCm39)		probably null	Het
Ptgr3	T	A	18: 84,113,390 (GRCm39)	Y355*	probably null	Het
Rnft2	A	G	5: 118,380,587 (GRCm39)		probably benign	Het
Rp1l1	G	T	14: 64,266,985 (GRCm39)	S857I	probably damaging	Het
Samd9l	A	G	6: 3,372,992 (GRCm39)	F1423S	probably damaging	Het
Scn3a	A	G	2: 65,291,854 (GRCm39)	Y1631H	probably damaging	Het
Slc22a5	A	T	11: 53,765,899 (GRCm39)	I229K	probably damaging	Het
Slco1a7	T	C	6: 141,684,615 (GRCm39)	D280G	probably benign	Het
Snd1	T	A	6: 28,526,220 (GRCm39)		probably benign	Het
Srrm1	G	T	4: 135,074,518 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,874 (GRCm39)	V5252A	probably damaging	Het
Tek	A	G	4: 94,627,882 (GRCm39)	D2G	probably benign	Het
Uba1	T	C	X: 20,545,964 (GRCm39)	S803P	probably damaging	Het
Uggt2	A	G	14: 119,326,605 (GRCm39)	I202T	possibly damaging	Het
Umodl1	A	T	17: 31,206,888 (GRCm39)	I760F	probably benign	Het
Vgll1	A	G	X: 56,144,569 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,676,276 (GRCm39)	V347A	probably benign	Het
Zswim9	T	C	7: 12,994,608 (GRCm39)	E516G	probably damaging	Het

Other mutations in Golga5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:Golga5	APN	12	102,460,073 (GRCm39)	missense	probably damaging	0.99
IGL01487:Golga5	APN	12	102,461,955 (GRCm39)	intron	probably benign
IGL01585:Golga5	APN	12	102,445,954 (GRCm39)	missense	probably benign
IGL01901:Golga5	APN	12	102,446,061 (GRCm39)	critical splice donor site	probably null
IGL02118:Golga5	APN	12	102,462,011 (GRCm39)	missense	possibly damaging	0.67
IGL02568:Golga5	APN	12	102,438,338 (GRCm39)	missense	probably benign	0.33
golgotha	UTSW	12	102,450,835 (GRCm39)	critical splice donor site	probably null
BB007:Golga5	UTSW	12	102,450,681 (GRCm39)	missense	probably benign	0.31
BB017:Golga5	UTSW	12	102,450,681 (GRCm39)	missense	probably benign	0.31
FR4976:Golga5	UTSW	12	102,441,919 (GRCm39)	splice site	probably null
R0244:Golga5	UTSW	12	102,442,447 (GRCm39)	missense	probably benign
R0432:Golga5	UTSW	12	102,442,467 (GRCm39)	missense	possibly damaging	0.50
R0552:Golga5	UTSW	12	102,450,752 (GRCm39)	missense	possibly damaging	0.75
R0659:Golga5	UTSW	12	102,442,467 (GRCm39)	missense	possibly damaging	0.50
R1244:Golga5	UTSW	12	102,438,554 (GRCm39)	missense	probably benign	0.01
R1542:Golga5	UTSW	12	102,440,979 (GRCm39)	missense	probably damaging	1.00
R1791:Golga5	UTSW	12	102,458,390 (GRCm39)	missense	possibly damaging	0.48
R2310:Golga5	UTSW	12	102,458,420 (GRCm39)	missense	probably damaging	0.99
R5110:Golga5	UTSW	12	102,438,336 (GRCm39)	missense	probably benign	0.02
R5704:Golga5	UTSW	12	102,455,707 (GRCm39)	missense	probably benign	0.00
R6228:Golga5	UTSW	12	102,450,740 (GRCm39)	missense	probably benign	0.00
R6229:Golga5	UTSW	12	102,450,740 (GRCm39)	missense	probably benign	0.00
R6241:Golga5	UTSW	12	102,438,732 (GRCm39)	missense	probably damaging	0.96
R7236:Golga5	UTSW	12	102,441,034 (GRCm39)	critical splice donor site	probably null
R7355:Golga5	UTSW	12	102,438,494 (GRCm39)	missense	possibly damaging	0.83
R7404:Golga5	UTSW	12	102,450,778 (GRCm39)	missense	probably damaging	0.97
R7493:Golga5	UTSW	12	102,450,835 (GRCm39)	critical splice donor site	probably null
R7930:Golga5	UTSW	12	102,450,681 (GRCm39)	missense	probably benign	0.31
R8062:Golga5	UTSW	12	102,450,739 (GRCm39)	missense	probably benign
R8231:Golga5	UTSW	12	102,438,558 (GRCm39)	missense	probably benign
R8765:Golga5	UTSW	12	102,445,963 (GRCm39)	missense	probably benign	0.01
R9083:Golga5	UTSW	12	102,458,476 (GRCm39)	missense	probably benign	0.01
R9085:Golga5	UTSW	12	102,458,476 (GRCm39)	missense	probably benign	0.01
R9086:Golga5	UTSW	12	102,458,476 (GRCm39)	missense	probably benign	0.01
R9301:Golga5	UTSW	12	102,443,057 (GRCm39)	missense	probably benign	0.00
R9655:Golga5	UTSW	12	102,446,008 (GRCm39)	missense	possibly damaging	0.55
Z1177:Golga5	UTSW	12	102,438,264 (GRCm39)	start gained	probably benign
Z1187:Golga5	UTSW	12	102,440,853 (GRCm39)	missense	probably benign	0.13

Posted On

2014-05-07