Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02567:Golph3'

298873

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Golph3

Ensembl Gene

ENSMUSG00000022200

Gene Name

golgi phosphoprotein 3

Synonyms

5730410D03Rik, 4733401N08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02567

Quality Score

Status

Chromosome

Chromosomal Location

12321536-12351677 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 12349507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 176 (R176*)

Ref Sequence

ENSEMBL: ENSMUSP00000057375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059680] [ENSMUST00000226517] [ENSMUST00000228671]

AlphaFold

Q9CRA5

Predicted Effect

probably null
Transcript: ENSMUST00000059680
AA Change: R176*

SMART Domains

Protein: ENSMUSP00000057375
Gene: ENSMUSG00000022200
AA Change: R176*

Domain	Start	End	E-Value	Type
Pfam:GPP34	62	288	8.7e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226517

Predicted Effect

probably benign
Transcript: ENSMUST00000228671

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 complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	C	A	11: 53,263,578 (GRCm39)	S199R	possibly damaging	Het
Ano1	A	G	7: 144,165,362 (GRCm39)	L621P	probably damaging	Het
Calcr	C	T	6: 3,691,564 (GRCm39)	V404M	probably damaging	Het
Carmil3	A	G	14: 55,736,339 (GRCm39)	S635G	possibly damaging	Het
Ccl12	C	A	11: 81,993,447 (GRCm39)	S28R	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr3	T	C	12: 33,088,900 (GRCm39)	N761D	probably benign	Het
Col14a1	T	C	15: 55,208,357 (GRCm39)		probably null	Het
Col28a1	T	C	6: 8,014,819 (GRCm39)	K862R	possibly damaging	Het
Cyp2c66	C	T	19: 39,175,084 (GRCm39)		probably benign	Het
D5Ertd615e	T	C	5: 45,320,758 (GRCm39)		noncoding transcript	Het
Deup1	T	C	9: 15,486,579 (GRCm39)	E367G	probably damaging	Het
Dpp8	T	G	9: 64,986,058 (GRCm39)	Y849*	probably null	Het
Efhc1	T	A	1: 21,043,188 (GRCm39)	V369E	probably damaging	Het
Entrep2	T	A	7: 64,436,479 (GRCm39)	M101L	possibly damaging	Het
Epg5	A	G	18: 78,076,288 (GRCm39)	Y2562C	probably damaging	Het
Fbln5	A	G	12: 101,728,059 (GRCm39)		probably null	Het
Frem1	A	T	4: 82,918,292 (GRCm39)	M551K	probably damaging	Het
Gba2	T	C	4: 43,567,281 (GRCm39)	S889G	probably benign	Het
Got2	A	T	8: 96,598,829 (GRCm39)	F191Y	probably benign	Het
Gtf2ird2	G	T	5: 134,241,890 (GRCm39)		probably benign	Het
H4c16	G	A	6: 136,781,272 (GRCm39)	R36W	probably damaging	Het
Hivep3	A	G	4: 119,991,153 (GRCm39)	T2218A	probably damaging	Het
Htr1f	C	T	16: 64,746,611 (GRCm39)	G227D	probably benign	Het
Ifi202b	C	T	1: 173,791,370 (GRCm39)	S436N	possibly damaging	Het
Nf1	T	A	11: 79,437,969 (GRCm39)	V2109D	probably damaging	Het
Opa1	C	A	16: 29,407,104 (GRCm39)	D29E	probably benign	Het
Papln	C	T	12: 83,825,611 (GRCm39)	P631S	probably benign	Het
Pde4c	T	A	8: 71,200,570 (GRCm39)	M352K	probably benign	Het
Pigu	T	C	2: 155,173,112 (GRCm39)	T129A	possibly damaging	Het
Pla2g4c	T	A	7: 13,079,965 (GRCm39)	H424Q	probably damaging	Het
Ptpn13	T	G	5: 103,710,157 (GRCm39)	L1564R	probably damaging	Het
Rbm5	T	C	9: 107,621,473 (GRCm39)	D642G	probably damaging	Het
Rnf111	T	C	9: 70,366,287 (GRCm39)	T384A	probably damaging	Het
Scn11a	T	C	9: 119,633,555 (GRCm39)	T393A	probably damaging	Het
Sned1	A	T	1: 93,202,069 (GRCm39)	K619M	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Syt9	A	G	7: 107,035,868 (GRCm39)	Y295C	probably damaging	Het
Taar7f	T	A	10: 23,926,323 (GRCm39)	Y306N	probably damaging	Het
Tmem107	T	G	11: 68,961,845 (GRCm39)	L25V	possibly damaging	Het
Wdr24	T	G	17: 26,043,322 (GRCm39)	I48S	probably damaging	Het
Zc3hc1	T	C	6: 30,374,848 (GRCm39)	D231G	probably benign	Het
Zfp142	T	C	1: 74,617,309 (GRCm39)	K341E	possibly damaging	Het
Zfp142	T	A	1: 74,617,306 (GRCm39)	S342C	possibly damaging	Het
Zfp142	T	G	1: 74,617,308 (GRCm39)	K341T	possibly damaging	Het
Zfp804b	T	A	5: 6,819,989 (GRCm39)	I989L	probably benign	Het
Zfyve9	A	C	4: 108,531,720 (GRCm39)	V1095G	probably damaging	Het

Other mutations in Golph3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Golph3	APN	15	12,339,757 (GRCm39)	missense	probably damaging	1.00
IGL01672:Golph3	APN	15	12,349,643 (GRCm39)	missense	probably benign	0.35
IGL02232:Golph3	APN	15	12,349,578 (GRCm39)	missense	probably benign	0.03
IGL02746:Golph3	APN	15	12,349,501 (GRCm39)	missense	probably damaging	1.00
IGL02981:Golph3	APN	15	12,349,550 (GRCm39)	missense	probably benign	0.23
ephemeral	UTSW	15	12,339,756 (GRCm39)	missense	probably damaging	1.00
R0035:Golph3	UTSW	15	12,339,776 (GRCm39)	missense	probably damaging	1.00
R2363:Golph3	UTSW	15	12,349,649 (GRCm39)	missense	probably benign
R5551:Golph3	UTSW	15	12,321,922 (GRCm39)	missense	probably benign	0.23
R5895:Golph3	UTSW	15	12,339,756 (GRCm39)	missense	probably damaging	1.00
R7527:Golph3	UTSW	15	12,343,404 (GRCm39)	splice site	probably null

Posted On

2015-04-16