Mutagenetix > Incidental Mutation

Incidental Mutation 'BB017:Golga5'

642974

Institutional Source

Beutler Lab

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 #

BB017

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102435394-102464166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102450681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 445 (N445D)

Ref Sequence

ENSEMBL: ENSMUSP00000021609 (fasta)

Gene Model

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

AlphaFold

Q9QYE6

Predicted Effect

probably benign
Transcript: ENSMUST00000021609
AA Change: N445D

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021609
Gene: ENSMUSG00000021192
AA Change: N445D

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: N445D

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137305
Gene: ENSMUSG00000021192
AA Change: N445D

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: ENSMUST00000222744

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	C	T	8: 41,250,107 (GRCm39)	T739I	probably benign	Het
Adam23	G	T	1: 63,624,586 (GRCm39)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,499,547 (GRCm39)	R31S	probably damaging	Het
Ano4	T	A	10: 89,163,138 (GRCm39)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,796,625 (GRCm39)	V675A	probably damaging	Het
Brca2	A	G	5: 150,481,975 (GRCm39)	E2839G	probably damaging	Het
Capn5	C	T	7: 97,773,085 (GRCm39)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm39)	T23M	probably damaging	Het
Cerk	C	T	15: 86,028,920 (GRCm39)	E379K	possibly damaging	Het
Comp	G	A	8: 70,826,503 (GRCm39)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,236,982 (GRCm39)	A220V	possibly damaging	Het
Cyp2c69	G	T	19: 39,831,434 (GRCm39)	P460T	possibly damaging	Het
Ddx23	T	C	15: 98,546,504 (GRCm39)	D555G	probably damaging	Het
E2f6	T	A	12: 16,869,058 (GRCm39)	I127K	probably damaging	Het
Efr3a	T	A	15: 65,733,589 (GRCm39)	D716E	probably benign	Het
Esp16	T	G	17: 39,850,868 (GRCm39)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,700,061 (GRCm39)	S2199A	probably benign	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Gas7	A	G	11: 67,556,217 (GRCm39)	I185M	probably damaging	Het
Glg1	A	T	8: 111,887,367 (GRCm39)	L1047I	possibly damaging	Het
Grin2c	A	T	11: 115,147,063 (GRCm39)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 120,161,499 (GRCm39)	I97T	possibly damaging	Het
Ifi211	T	C	1: 173,733,769 (GRCm39)	T131A	possibly damaging	Het
Ifngr1	A	G	10: 19,484,931 (GRCm39)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,587,803 (GRCm39)	V467A	probably damaging	Het
Itgad	C	A	7: 127,782,280 (GRCm39)	Q239K	probably benign	Het
Jrkl	T	C	9: 13,245,506 (GRCm39)	I52V	possibly damaging	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Krt75	C	A	15: 101,473,318 (GRCm39)	*552L	probably null	Het
Mbd2	A	G	18: 70,701,948 (GRCm39)	D154G	probably damaging	Het
Mutyh	A	T	4: 116,674,153 (GRCm39)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,864,825 (GRCm39)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,089,619 (GRCm39)		probably null	Het
Nup205	T	G	6: 35,171,511 (GRCm39)	M458R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e32	A	C	11: 73,705,926 (GRCm39)		probably benign	Het
Or1j4	G	T	2: 36,740,285 (GRCm39)	V76F	probably damaging	Het
Or2at1	A	T	7: 99,416,803 (GRCm39)	T145S	probably benign	Het
Or5b119	G	A	19: 13,457,019 (GRCm39)	P181L	probably damaging	Het
Or6b2	T	A	1: 92,407,570 (GRCm39)	M258L	probably benign	Het
Or8b101	A	G	9: 38,020,264 (GRCm39)	N89S	possibly damaging	Het
Or8k25	T	A	2: 86,243,560 (GRCm39)	T279S	probably damaging	Het
Plcl2	T	G	17: 50,913,831 (GRCm39)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,630,264 (GRCm39)	Y618N	unknown	Het
Rab43	A	T	6: 87,788,348 (GRCm39)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,596,726 (GRCm39)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,164,787 (GRCm39)	E238D	probably damaging	Het
Scn9a	A	T	2: 66,335,193 (GRCm39)	D1265E	probably damaging	Het
Sntb2	T	A	8: 107,728,269 (GRCm39)	S406T	probably damaging	Het
Sos1	T	C	17: 80,714,267 (GRCm39)	I1068V	probably benign	Het
Spart	A	G	3: 55,035,697 (GRCm39)	K519E	probably damaging	Het
Tlx3	A	T	11: 33,153,058 (GRCm39)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,510,964 (GRCm39)	T10S		Het
Txk	A	C	5: 72,892,536 (GRCm39)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,682,258 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,900,556 (GRCm39)	S357P	probably benign	Het
Wac	T	A	18: 7,921,560 (GRCm39)	N565K	possibly damaging	Het
Zfp1007	A	T	5: 109,823,622 (GRCm39)	C609*	probably null	Het
Zfp709	G	T	8: 72,644,684 (GRCm39)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,299,049 (GRCm39)	Q562*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ATGTGTGCTCAGTCTCTGGC -3'
(R):5'- TGAACAATGGACGTTACCTGTAG -3'

Sequencing Primer
(F):5'- AGTTAAGAGCACTGGTCGCTC -3'
(R):5'- CAATGGACGTTACCTGTAGCTCAG -3'

Posted On

2020-08-01