Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00089:Golm2'

306498

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 #

IGL00089

Quality Score

Status

Chromosome

Chromosomal Location

121697451-121766701 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 121741274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117883 (fasta)

Gene Model

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

AlphaFold

Q6P2L7

Predicted Effect

probably benign
Transcript: ENSMUST00000078752

SMART Domains

Protein: ENSMUSP00000077811
Gene: ENSMUSG00000060227

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

SMART Domains

Protein: ENSMUSP00000087357
Gene: ENSMUSG00000060227

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

noncoding transcript
Transcript: ENSMUST00000135416

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	C	5: 138,645,854 (GRCm39)	S580P	probably damaging	Het
Abca12	T	A	1: 71,342,700 (GRCm39)	I927F	possibly damaging	Het
Abca8a	A	G	11: 109,941,765 (GRCm39)	V1168A	possibly damaging	Het
Abcc1	T	A	16: 14,278,847 (GRCm39)	N1052K	probably benign	Het
Adamts13	C	A	2: 26,895,373 (GRCm39)	Q1155K	probably benign	Het
Adgre4	A	T	17: 56,098,915 (GRCm39)		probably benign	Het
Ahsa2	T	C	11: 23,446,837 (GRCm39)	E42G	probably damaging	Het
Ankk1	T	G	9: 49,333,200 (GRCm39)	I95L	probably benign	Het
Anpep	A	T	7: 79,491,734 (GRCm39)	L89Q	probably damaging	Het
Arl5a	T	C	2: 52,306,083 (GRCm39)	N83S	probably benign	Het
Atp11b	A	G	3: 35,863,525 (GRCm39)		probably null	Het
Atp6v0a2	T	C	5: 124,798,841 (GRCm39)	F849L	probably benign	Het
BC106179	A	G	16: 23,043,022 (GRCm39)		probably benign	Het
Bcl2a1c	T	C	9: 114,159,608 (GRCm39)	*129Q	probably null	Het
C2cd5	T	C	6: 142,963,671 (GRCm39)	I888V	probably null	Het
Calb2	A	T	8: 110,872,303 (GRCm39)	L227Q	probably damaging	Het
Ccp110	G	T	7: 118,321,647 (GRCm39)	C434F	possibly damaging	Het
Cd209c	A	T	8: 3,990,339 (GRCm39)	C160S	probably damaging	Het
Chmp1a	A	G	8: 123,935,758 (GRCm39)		probably null	Het
Col6a6	T	A	9: 105,635,390 (GRCm39)		probably null	Het
Cyld	T	A	8: 89,432,085 (GRCm39)	C28S	probably benign	Het
Dapk1	A	T	13: 60,908,854 (GRCm39)	I1156F	probably benign	Het
Dennd1a	A	T	2: 38,133,454 (GRCm39)	Y16*	probably null	Het
Dennd3	T	G	15: 73,438,982 (GRCm39)	S1117A	probably benign	Het
Dgka	A	T	10: 128,568,955 (GRCm39)	D203E	probably damaging	Het
Dhx15	G	T	5: 52,324,117 (GRCm39)	L392I	probably damaging	Het
Dnah10	A	G	5: 124,823,680 (GRCm39)	D567G	probably benign	Het
Eaf1	T	A	14: 31,226,483 (GRCm39)		probably null	Het
Efnb2	T	C	8: 8,710,589 (GRCm39)	D9G	probably benign	Het
Fcrla	A	T	1: 170,755,067 (GRCm39)	C15S	probably benign	Het
Flt3	T	C	5: 147,291,686 (GRCm39)	N588S	probably damaging	Het
Garre1	A	T	7: 33,945,412 (GRCm39)		probably benign	Het
Gm10146	A	T	10: 78,229,307 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,653 (GRCm39)		probably benign	Het
Gpr39	A	C	1: 125,800,468 (GRCm39)	R406S	probably benign	Het
H2-Aa	T	C	17: 34,503,504 (GRCm39)	H31R	probably damaging	Het
Helz2	G	T	2: 180,871,495 (GRCm39)	R2706S	probably damaging	Het
Hip1r	T	A	5: 124,127,798 (GRCm39)		probably null	Het
Hnf4g	A	G	3: 3,713,142 (GRCm39)	T239A	probably benign	Het
Hps5	A	T	7: 46,425,362 (GRCm39)	I413N	probably damaging	Het
Hspg2	G	A	4: 137,256,131 (GRCm39)	G1413R	probably damaging	Het
Itgax	T	G	7: 127,734,498 (GRCm39)	M352R	probably damaging	Het
Katna1	T	A	10: 7,638,568 (GRCm39)	M433K	probably damaging	Het
Kcna4	T	G	2: 107,126,207 (GRCm39)	S314A	probably damaging	Het
Kif13b	C	T	14: 64,907,142 (GRCm39)	T42I	possibly damaging	Het
Krt78	G	A	15: 101,855,945 (GRCm39)	T622I	probably benign	Het
Krt86	T	A	15: 101,374,396 (GRCm39)	M263K	possibly damaging	Het
Lap3	A	G	5: 45,663,511 (GRCm39)		probably benign	Het
Lepr	A	T	4: 101,672,232 (GRCm39)	R1085S	probably benign	Het
Lmcd1	A	G	6: 112,306,769 (GRCm39)	I314V	probably benign	Het
Luc7l2	T	C	6: 38,585,105 (GRCm39)		probably benign	Het
Mcm2	T	A	6: 88,870,383 (GRCm39)	M117L	probably benign	Het
Mdh2	T	C	5: 135,815,138 (GRCm39)	Y133H	probably damaging	Het
Minar1	C	T	9: 89,483,853 (GRCm39)	V515I	probably benign	Het
Mlkl	T	A	8: 112,046,060 (GRCm39)	R317*	probably null	Het
Mrps34	T	C	17: 25,114,344 (GRCm39)	L68P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Myo18a	A	G	11: 77,738,764 (GRCm39)	E1299G	probably damaging	Het
Nlrp14	T	C	7: 106,791,709 (GRCm39)	L139P	possibly damaging	Het
Nudcd2	A	G	11: 40,627,413 (GRCm39)	D86G	probably damaging	Het
Or10u4	T	A	10: 129,801,673 (GRCm39)	R293W	probably damaging	Het
Or4c107	T	A	2: 88,789,110 (GRCm39)	I100N	probably damaging	Het
Or4f62	A	T	2: 111,986,412 (GRCm39)	M39L	probably benign	Het
Patj	T	C	4: 98,353,343 (GRCm39)	F629L	probably damaging	Het
Rad23a	A	G	8: 85,562,524 (GRCm39)	F280L	probably damaging	Het
Ralgapa1	C	A	12: 55,769,558 (GRCm39)	G811V	probably damaging	Het
St18	A	G	1: 6,872,796 (GRCm39)	D177G	probably benign	Het
Sult1c2	A	C	17: 54,140,147 (GRCm39)	Y159*	probably null	Het
Surf6	T	A	2: 26,783,081 (GRCm39)		probably null	Het
Susd6	T	G	12: 80,916,841 (GRCm39)		probably benign	Het
Sypl2	G	A	3: 108,133,742 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 37,984,280 (GRCm39)	F2289Y	probably damaging	Het
Vcl	T	C	14: 21,037,071 (GRCm39)	I223T	probably benign	Het
Vmn1r234	C	T	17: 21,449,860 (GRCm39)	T258I	possibly damaging	Het
Vmn2r58	T	A	7: 41,513,854 (GRCm39)	K263M	possibly damaging	Het
Vmo1	A	T	11: 70,404,424 (GRCm39)	N192K	probably damaging	Het
Wrnip1	A	G	13: 33,000,312 (GRCm39)	N440D	probably damaging	Het
Zc3h4	T	C	7: 16,156,159 (GRCm39)	Y264H	unknown	Het
Zfp639	T	G	3: 32,573,902 (GRCm39)		probably null	Het
Zfp831	T	C	2: 174,488,078 (GRCm39)	Y918H	possibly damaging	Het

Other mutations in Golm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Golm2	APN	2	121,756,203 (GRCm39)	missense	probably benign	0.06
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

2015-04-16