Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01020:Golm2'

53457

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Golm2

Ensembl Gene

ENSMUSG00000060227

Gene Name

golgi membrane protein 2

Synonyms

D130060C09Rik, Casc4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01020

Quality Score

Status

Chromosome

Chromosomal Location

121697451-121766701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121756203 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 411 (V411I)

Ref Sequence

ENSEMBL: ENSMUSP00000077811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078752] [ENSMUST00000089912] [ENSMUST00000089915] [ENSMUST00000110586] [ENSMUST00000136023]

AlphaFold

Q6P2L7

Predicted Effect

probably benign
Transcript: ENSMUST00000078752
AA Change: V411I

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077811
Gene: ENSMUSG00000060227
AA Change: V411I

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	37	195	N/A	INTRINSIC
low complexity region	400	418	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089912
AA Change: V378I

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000087357
Gene: ENSMUSG00000060227
AA Change: V378I

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	37	195	N/A	INTRINSIC
low complexity region	367	385	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089915

SMART Domains

Protein: ENSMUSP00000087360
Gene: ENSMUSG00000060227

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	37	195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110586

SMART Domains

Protein: ENSMUSP00000106216
Gene: ENSMUSG00000060227

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	37	195	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126256

Predicted Effect

probably benign
Transcript: ENSMUST00000136023

SMART Domains

Protein: ENSMUSP00000117883
Gene: ENSMUSG00000060227

Domain	Start	End	E-Value	Type
coiled coil region	2	83	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt3	T	G	1: 176,958,533 (GRCm39)		probably benign	Het
Aldh18a1	C	T	19: 40,557,625 (GRCm39)		probably benign	Het
Arhgap32	A	G	9: 32,168,657 (GRCm39)	H880R	probably benign	Het
Arhgef7	G	A	8: 11,832,540 (GRCm39)	S5N	probably damaging	Het
Atp6v1e1	T	C	6: 120,785,372 (GRCm39)	M40V	possibly damaging	Het
Atr	T	C	9: 95,744,836 (GRCm39)	V51A	probably damaging	Het
Atxn10	A	G	15: 85,259,623 (GRCm39)		probably null	Het
Btbd16	T	A	7: 130,426,091 (GRCm39)	I502N	probably damaging	Het
Celsr2	G	T	3: 108,310,586 (GRCm39)	L1499M	probably damaging	Het
Cfl1	C	T	19: 5,543,709 (GRCm39)		probably benign	Het
Cul9	T	C	17: 46,849,949 (GRCm39)	E500G	probably damaging	Het
Dusp3	G	T	11: 101,875,470 (GRCm39)	N31K	probably benign	Het
Erbb4	A	T	1: 68,337,608 (GRCm39)		probably benign	Het
Fam234b	G	A	6: 135,188,904 (GRCm39)	V170M	probably benign	Het
Fign	A	G	2: 63,809,354 (GRCm39)	S639P	probably damaging	Het
Gbp7	A	G	3: 142,248,618 (GRCm39)	T294A	probably benign	Het
Ift80	C	T	3: 68,871,012 (GRCm39)	D195N	probably damaging	Het
Kif21b	G	T	1: 136,081,832 (GRCm39)		probably benign	Het
Kif2c	A	T	4: 117,024,101 (GRCm39)	F397I	probably damaging	Het
Lamc3	T	C	2: 31,804,668 (GRCm39)	V567A	probably benign	Het
Letmd1	T	C	15: 100,369,640 (GRCm39)	M36T	probably damaging	Het
Lrp1b	A	G	2: 40,888,259 (GRCm39)	W2220R	probably damaging	Het
Mical2	T	A	7: 111,914,283 (GRCm39)		probably benign	Het
Mtif2	A	G	11: 29,494,973 (GRCm39)	D691G	possibly damaging	Het
Myh8	G	A	11: 67,174,229 (GRCm39)	V189M	probably damaging	Het
Myo9b	G	A	8: 71,804,644 (GRCm39)	R1418K	probably benign	Het
Nkpd1	G	A	7: 19,252,674 (GRCm39)	V7M	possibly damaging	Het
Nrxn2	G	A	19: 6,543,473 (GRCm39)	V1116I	probably benign	Het
Nynrin	A	G	14: 56,105,905 (GRCm39)	M875V	probably benign	Het
Oat	T	C	7: 132,168,902 (GRCm39)		probably null	Het
Or7g35	G	A	9: 19,496,616 (GRCm39)	S261N	possibly damaging	Het
Or8g24	A	C	9: 38,989,747 (GRCm39)	I98R	probably damaging	Het
Prkaa2	C	T	4: 104,932,659 (GRCm39)	R63Q	probably damaging	Het
Psg29	T	A	7: 16,942,657 (GRCm39)	S219R	probably benign	Het
Ptprc	T	C	1: 138,047,911 (GRCm39)		probably null	Het
Pwwp2b	G	T	7: 138,834,771 (GRCm39)	E71*	probably null	Het
Robo2	T	C	16: 73,725,039 (GRCm39)	T1055A	probably benign	Het
Serpina9	T	A	12: 103,974,845 (GRCm39)	N103Y	probably damaging	Het
Sis	T	C	3: 72,874,171 (GRCm39)	E10G	probably damaging	Het
Tbck	C	T	3: 132,432,903 (GRCm39)	Q438*	probably null	Het
Thnsl1	T	C	2: 21,217,305 (GRCm39)	L353S	probably damaging	Het
Tmem237	C	A	1: 59,146,612 (GRCm39)		probably null	Het
Tuba3a	C	T	6: 125,258,303 (GRCm39)	R229H	probably damaging	Het
Zbtb2	A	G	10: 4,319,702 (GRCm39)	I108T	probably benign	Het
Zfp345	T	C	2: 150,314,967 (GRCm39)	N190S	possibly damaging	Het

Other mutations in Golm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Golm2	APN	2	121,741,274 (GRCm39)	splice site	probably benign
IGL01794:Golm2	APN	2	121,742,407 (GRCm39)	missense	probably benign	0.36
IGL02429:Golm2	APN	2	121,742,468 (GRCm39)	missense	probably benign	0.00
R0126:Golm2	UTSW	2	121,736,565 (GRCm39)	splice site	probably benign
R0709:Golm2	UTSW	2	121,697,906 (GRCm39)	missense	probably damaging	1.00
R2182:Golm2	UTSW	2	121,697,909 (GRCm39)	missense	probably damaging	1.00
R4771:Golm2	UTSW	2	121,756,126 (GRCm39)	missense	probably damaging	1.00
R5533:Golm2	UTSW	2	121,756,178 (GRCm39)	intron	probably benign
R5817:Golm2	UTSW	2	121,736,525 (GRCm39)	missense	probably benign	0.30
R6519:Golm2	UTSW	2	121,737,218 (GRCm39)	missense	probably benign	0.31
R6598:Golm2	UTSW	2	121,763,967 (GRCm39)	missense	probably damaging	1.00
R6598:Golm2	UTSW	2	121,763,966 (GRCm39)	missense	probably damaging	1.00
R7799:Golm2	UTSW	2	121,764,022 (GRCm39)	missense	probably benign	0.01
R8009:Golm2	UTSW	2	121,737,242 (GRCm39)	missense	probably benign	0.00
R8359:Golm2	UTSW	2	121,697,632 (GRCm39)	start gained	probably benign
R8360:Golm2	UTSW	2	121,697,632 (GRCm39)	start gained	probably benign
R8995:Golm2	UTSW	2	121,756,199 (GRCm39)	missense	probably damaging	1.00
R9095:Golm2	UTSW	2	121,756,096 (GRCm39)	missense	probably damaging	1.00
R9620:Golm2	UTSW	2	121,737,242 (GRCm39)	missense	probably benign	0.00

Posted On

2013-06-28