Mutagenetix > Incidental Mutation

Incidental Mutation 'R6229:Golga5'

504572

Institutional Source

Beutler Lab

Gene Symbol

Golga5

Ensembl Gene

ENSMUSG00000021192

Gene Name

golgin A5

Synonyms

Ret-II

MMRRC Submission

044358-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102435394-102464166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 102450740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 464 (M464I)

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: M464I

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

SMART Domains

Protein: ENSMUSP00000021609
Gene: ENSMUSG00000021192
AA Change: M464I

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: M464I

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

SMART Domains

Protein: ENSMUSP00000137305
Gene: ENSMUSG00000021192
AA Change: M464I

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

unknown
Transcript: ENSMUST00000222744
AA Change: M8I

Meta Mutation Damage Score

0.0713

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	A	1: 120,099,213 (GRCm39)		probably null	Het
Adamts6	G	A	13: 104,483,900 (GRCm39)		probably null	Het
Add3	C	A	19: 53,223,277 (GRCm39)	A343D	probably benign	Het
Ankub1	T	C	3: 57,572,528 (GRCm39)	D398G	probably benign	Het
Apbb1	C	T	7: 105,222,937 (GRCm39)	A225T	probably damaging	Het
Apbb1	C	A	7: 105,222,938 (GRCm39)	W224C	probably damaging	Het
Arhgef40	A	T	14: 52,227,547 (GRCm39)	Q431L	probably benign	Het
Calm4	A	G	13: 3,888,038 (GRCm39)	D48G	possibly damaging	Het
Ccdc18	A	T	5: 108,319,484 (GRCm39)	I502L	probably benign	Het
Cftr	T	C	6: 18,220,683 (GRCm39)	S185P	probably damaging	Het
Chd2	C	A	7: 73,101,471 (GRCm39)	K1418N	possibly damaging	Het
Cmya5	A	C	13: 93,229,814 (GRCm39)	V1758G	probably benign	Het
Cpsf4l	T	C	11: 113,599,680 (GRCm39)	K35R	possibly damaging	Het
Cyp2c68	A	T	19: 39,727,622 (GRCm39)	V119E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah3	G	T	7: 119,564,711 (GRCm39)	Q2651K	probably benign	Het
Eif4g2	T	C	7: 110,676,920 (GRCm39)		probably null	Het
Enc1	A	G	13: 97,381,999 (GRCm39)	R170G	probably benign	Het
Enpp2	T	C	15: 54,741,228 (GRCm39)	R357G	probably damaging	Het
Epb41l2	A	G	10: 25,375,734 (GRCm39)	K58E	possibly damaging	Het
Fis1	A	G	5: 136,994,528 (GRCm39)		probably null	Het
Fmo9	A	C	1: 166,505,126 (GRCm39)	M89R	possibly damaging	Het
Gm6096	A	C	7: 33,950,676 (GRCm39)	I72L	possibly damaging	Het
Got1l1	T	C	8: 27,688,464 (GRCm39)		probably null	Het
Ift56	T	A	6: 38,371,975 (GRCm39)	N188K	probably benign	Het
Igfbpl1	A	G	4: 45,813,517 (GRCm39)	Y233H	probably damaging	Het
Il18r1	T	C	1: 40,513,923 (GRCm39)	I43T	probably benign	Het
Ints8	T	C	4: 11,252,891 (GRCm39)	N64D	probably damaging	Het
Kalrn	A	G	16: 33,875,441 (GRCm39)	S44P	probably damaging	Het
Kif13b	G	T	14: 64,976,016 (GRCm39)	G444W	probably damaging	Het
Lmo1	A	G	7: 108,742,832 (GRCm39)	C13R	probably damaging	Het
Lrfn2	T	A	17: 49,404,160 (GRCm39)	M761K	possibly damaging	Het
Lrrd1	T	C	5: 3,913,887 (GRCm39)	I719T	probably damaging	Het
Madd	A	T	2: 90,974,015 (GRCm39)	V1423E	probably damaging	Het
Mbnl1	T	A	3: 60,528,749 (GRCm39)		probably null	Het
Mrps28	T	C	3: 8,965,097 (GRCm39)	D114G	probably damaging	Het
Muc6	T	A	7: 141,226,792 (GRCm39)	M1412L	probably benign	Het
Myf6	T	C	10: 107,330,280 (GRCm39)	K96E	possibly damaging	Het
Myrf	A	G	19: 10,197,162 (GRCm39)	V462A	probably benign	Het
Nbeal1	T	C	1: 60,287,524 (GRCm39)	S923P	possibly damaging	Het
Nckap1l	T	C	15: 103,381,549 (GRCm39)	L430P	possibly damaging	Het
Nfatc2ip	C	T	7: 125,995,113 (GRCm39)		probably null	Het
Or11g24	A	G	14: 50,662,662 (GRCm39)	R229G	probably benign	Het
Or12e10	G	T	2: 87,640,431 (GRCm39)	C89F	probably damaging	Het
Or2w4	T	C	13: 21,795,819 (GRCm39)	I107V	probably benign	Het
Or7g33	T	A	9: 19,449,014 (GRCm39)	I71F	possibly damaging	Het
Plin2	A	G	4: 86,586,903 (GRCm39)	V5A	probably benign	Het
Pramel31	T	C	4: 144,090,199 (GRCm39)	M413T	probably benign	Het
Ptprm	T	A	17: 66,995,295 (GRCm39)	D1311V	probably damaging	Het
Recql5	A	T	11: 115,821,540 (GRCm39)	I72N	probably damaging	Het
Sall2	A	T	14: 52,550,648 (GRCm39)	M847K	probably benign	Het
Slc23a1	T	C	18: 35,752,577 (GRCm39)	R567G	probably benign	Het
Slc28a1	G	A	7: 80,774,753 (GRCm39)	R200H	probably benign	Het
Smc4	T	A	3: 68,937,580 (GRCm39)	Y843*	probably null	Het
Syne2	C	A	12: 75,967,994 (GRCm39)	Q915K	probably benign	Het
Tas2r131	T	A	6: 132,933,985 (GRCm39)	I275F	probably damaging	Het
Tcf20	T	C	15: 82,739,081 (GRCm39)	H790R	probably damaging	Het
Tm7sf3	A	G	6: 146,514,887 (GRCm39)	F310S	possibly damaging	Het
Tmem9b	T	A	7: 109,344,627 (GRCm39)		probably null	Het
Tnfaip8	A	G	18: 50,184,742 (GRCm39)		probably benign	Het
Top2b	T	G	14: 16,409,838 (GRCm38)	L835R	probably damaging	Het
Trappc8	A	T	18: 21,003,802 (GRCm39)	S209T	probably benign	Het
Uap1	C	T	1: 169,994,302 (GRCm39)	R58Q	probably benign	Het
Upk3bl	A	G	5: 136,092,915 (GRCm39)		probably null	Het
Usp34	A	G	11: 23,396,778 (GRCm39)	H596R	probably damaging	Het
Vmn1r181	C	T	7: 23,683,580 (GRCm39)	A15V	probably damaging	Het
Vmn2r54	T	A	7: 12,365,883 (GRCm39)	K350N	probably benign	Het
Vmn2r89	A	G	14: 51,693,178 (GRCm39)	H176R	probably benign	Het
Vwa7	A	G	17: 35,243,241 (GRCm39)	R640G	probably benign	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
IGL02063:Golga5	APN	12	102,438,418 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGCTCAGTCTCTGGCATC -3'
(R):5'- TTGGAGTTAGTCAACAGACAAACC -3'

Sequencing Primer
(F):5'- CTGTGGTAACCAGACCTTCATATGG -3'
(R):5'- CAAACCTACTCCTGTAGACATATTTC -3'

Posted On

2018-02-28