Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02939:Ext2'

365965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ext2

Ensembl Gene

ENSMUSG00000027198

Gene Name

exostoses (multiple) 2

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

Chromosomal Location

93661028-93822568 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 93704619 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028623] [ENSMUST00000125407] [ENSMUST00000144780] [ENSMUST00000184931]

Predicted Effect

probably null
Transcript: ENSMUST00000028623

SMART Domains

Protein: ENSMUSP00000028623
Gene: ENSMUSG00000027198

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Pfam:Exostosin	100	380	2.4e-59	PFAM
Pfam:Glyco_transf_64	456	701	1.1e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125407

SMART Domains

Protein: ENSMUSP00000120291
Gene: ENSMUSG00000027198

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Pfam:Exostosin	100	380	8.8e-59	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000132429

SMART Domains

Protein: ENSMUSP00000123492
Gene: ENSMUSG00000027198

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_64	1	100	5.7e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139321

Predicted Effect

probably benign
Transcript: ENSMUST00000144780

Predicted Effect

probably benign
Transcript: ENSMUST00000184931

SMART Domains

Protein: ENSMUSP00000138956
Gene: ENSMUSG00000027198

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Pfam:Exostosin	100	380	1.4e-57	PFAM
Pfam:Glyco_transf_64	456	559	9.5e-31	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos lack heparan sulfate, initiate primitive streak formation but fail to form mesoderm, become growth arrested and die around gastrulation. Heterozygotes show various abnormalities in cartilage differentiation; about one-third form one or more exostoses on the ribs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	T	C	5: 9,461,478	Y947H	probably damaging	Het
Atp6ap1	A	G	X: 74,297,318	D47G	probably benign	Het
Atr	T	C	9: 95,865,261	F199L	probably benign	Het
Bivm	C	A	1: 44,142,960	H443N	probably benign	Het
Btnl2	A	T	17: 34,361,069	H192L	probably benign	Het
Ccdc178	A	T	18: 22,120,718	C155S	probably benign	Het
Celsr1	C	A	15: 85,901,472	V2934L	probably benign	Het
Celsr3	T	C	9: 108,849,453	S3294P	probably damaging	Het
Ddx10	T	A	9: 53,204,279	E585V	possibly damaging	Het
Eps15l1	A	T	8: 72,384,762		probably benign	Het
Erlin1	G	T	19: 44,063,052	T70K	probably damaging	Het
Fam124a	G	A	14: 62,555,919		probably null	Het
Fam53a	T	C	5: 33,607,759	D201G	probably damaging	Het
Fgf14	C	T	14: 124,132,479	G136D	possibly damaging	Het
Gdi2	A	T	13: 3,564,623	T323S	probably benign	Het
Gemin5	A	T	11: 58,156,730	N339K	probably damaging	Het
Golga4	A	G	9: 118,535,454	E286G	probably benign	Het
Golga4	A	C	9: 118,534,632	K233T	probably damaging	Het
Gosr1	A	G	11: 76,750,906		probably benign	Het
Haus8	A	G	8: 71,255,717		probably benign	Het
Itgb3bp	T	C	4: 99,802,136	T49A	probably null	Het
Ldlrad4	A	G	18: 68,254,514	D299G	probably damaging	Het
Lpo	A	G	11: 87,815,178	M273T	possibly damaging	Het
Map3k4	T	A	17: 12,272,149	S132C	probably damaging	Het
Mycbp2	T	G	14: 103,177,279	T2566P	probably benign	Het
Nalcn	T	C	14: 123,298,872	E1255G	probably null	Het
Nop56	A	T	2: 130,278,197	K157N	probably damaging	Het
Olfr802	A	T	10: 129,681,988	Y250*	probably null	Het
Olfr979	C	T	9: 40,000,898	E110K	probably benign	Het
Pcdh15	A	G	10: 74,504,816		probably benign	Het
Pi4ka	T	C	16: 17,354,210	H557R	probably damaging	Het
Plekha4	C	T	7: 45,532,363	Q64*	probably null	Het
Ppp2r3c	G	A	12: 55,298,407		probably benign	Het
Rgmb	C	T	17: 15,807,493	M321I	probably benign	Het
Rnf31	T	C	14: 55,595,674	S363P	probably benign	Het
Sap18b	T	A	8: 95,825,701	M113K	probably benign	Het
Scara3	T	A	14: 65,931,656	M171L	probably benign	Het
Slc9a2	T	G	1: 40,742,703	M364R	probably damaging	Het
Sorcs1	C	T	19: 50,677,930	W180*	probably null	Het
Stat6	T	A	10: 127,646,940	M10K	probably benign	Het
Sun1	T	C	5: 139,235,488		probably benign	Het
Tead2	T	C	7: 45,220,434		probably benign	Het
Tjp1	T	G	7: 65,314,890	E844D	probably damaging	Het
Tmtc2	A	G	10: 105,370,550	S295P	probably damaging	Het
Ttn	G	A	2: 76,782,412	R17108C	probably damaging	Het
Ubr1	T	C	2: 120,881,183		probably null	Het
Vmn2r108	T	A	17: 20,471,283	H326L	probably benign	Het
Xdh	A	G	17: 73,943,845		probably null	Het
Zfp385b	A	G	2: 77,412,059	S439P	probably benign	Het
Zfp597	G	A	16: 3,865,941	S317L	probably benign	Het
Zfp638	A	G	6: 83,969,232	D1081G	probably damaging	Het
Zfp93	C	T	7: 24,275,084	H165Y	possibly damaging	Het

Other mutations in Ext2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01132:Ext2	APN	2	93791073	missense	probably benign
IGL01554:Ext2	APN	2	93811949	missense	probably damaging	1.00
IGL01768:Ext2	APN	2	93791110	splice site	probably benign
IGL02160:Ext2	APN	2	93813584	missense	probably benign
IGL02677:Ext2	APN	2	93707245	missense	probably damaging	1.00
IGL03013:Ext2	APN	2	93707226	intron	probably benign
IGL03286:Ext2	APN	2	93707272	missense	probably damaging	1.00
R0018:Ext2	UTSW	2	93795692	missense	probably damaging	1.00
R0526:Ext2	UTSW	2	93806085	missense	probably damaging	0.99
R0580:Ext2	UTSW	2	93795725	missense	probably benign	0.31
R1383:Ext2	UTSW	2	93806113	missense	possibly damaging	0.92
R1538:Ext2	UTSW	2	93707287	missense	probably damaging	1.00
R1743:Ext2	UTSW	2	93730225	missense	probably damaging	1.00
R1792:Ext2	UTSW	2	93704545	missense	probably damaging	1.00
R2874:Ext2	UTSW	2	93739686	missense	possibly damaging	0.95
R3122:Ext2	UTSW	2	93813825	missense	probably damaging	1.00
R4624:Ext2	UTSW	2	93703200	missense	probably benign	0.26
R4653:Ext2	UTSW	2	93696159	missense	probably benign	0.22
R4826:Ext2	UTSW	2	93762630	missense	probably benign	0.15
R4828:Ext2	UTSW	2	93795767	missense	probably benign	0.08
R4936:Ext2	UTSW	2	93813679	nonsense	probably null
R5311:Ext2	UTSW	2	93696261	missense	probably benign	0.04
R5799:Ext2	UTSW	2	93811972	missense	probably benign	0.01
R5850:Ext2	UTSW	2	93813659	missense	possibly damaging	0.94
R6230:Ext2	UTSW	2	93762620	missense	probably damaging	1.00
R6488:Ext2	UTSW	2	93806085	missense	probably damaging	0.99
R7047:Ext2	UTSW	2	93739657	missense	probably damaging	0.99
R7173:Ext2	UTSW	2	93813612	missense	probably damaging	1.00
R7391:Ext2	UTSW	2	93730267	missense	probably damaging	1.00
R7530:Ext2	UTSW	2	93661653	missense	probably benign	0.00
R7545:Ext2	UTSW	2	93813763	missense	probably benign
Z1177:Ext2	UTSW	2	93703275	critical splice acceptor site	unknown

Posted On

2015-12-18