Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01768:Ext2'

154023

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 #

IGL01768

Quality Score

Status

Chromosome

Chromosomal Location

93661028-93822568 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 93791110 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138956 (fasta)

Gene Model

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

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000119441

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123649

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

noncoding transcript
Transcript: ENSMUST00000152344

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931417E11Rik	A	T	6: 73,468,916	L217M	possibly damaging	Het
Aifm3	T	C	16: 17,506,277	V567A	possibly damaging	Het
Arnt	T	C	3: 95,491,016		probably benign	Het
C8b	G	A	4: 104,786,954	E273K	probably benign	Het
Capn5	C	T	7: 98,125,273	R570H	probably damaging	Het
Ccdc173	A	T	2: 69,782,127		probably benign	Het
Cdh9	A	T	15: 16,778,225	D42V	possibly damaging	Het
Cdk17	T	C	10: 93,208,261	S21P	probably damaging	Het
Cdkl3	T	A	11: 52,025,917	F291I	probably damaging	Het
Clmn	T	C	12: 104,781,719	E523G	probably damaging	Het
Cyp4f14	A	T	17: 32,908,002	I318N	probably damaging	Het
Daam1	T	A	12: 71,989,885	F1068L	probably benign	Het
F5	T	A	1: 164,176,345	F236L	probably benign	Het
Fat2	A	G	11: 55,262,568	V3606A	probably damaging	Het
Gpam	G	A	19: 55,087,520	T220M	probably benign	Het
Hyal1	C	A	9: 107,579,139	L342I	probably damaging	Het
Ilvbl	C	A	10: 78,583,293	P459T	possibly damaging	Het
Itga5	A	G	15: 103,351,570	Y632H	probably benign	Het
Krt73	T	C	15: 101,798,856	D299G	probably benign	Het
Lcp1	T	C	14: 75,224,133	V522A	probably benign	Het
Lmo3	A	G	6: 138,416,497	C53R	probably damaging	Het
Nsun7	T	C	5: 66,278,700	V305A	probably benign	Het
Olfr1391	G	A	11: 49,328,131	C240Y	probably damaging	Het
Olfr1427	A	T	19: 12,099,039	I200N	probably damaging	Het
Olfr859	G	A	9: 19,809,160	V281M	possibly damaging	Het
Oprm1	T	C	10: 6,829,186	S196P	probably damaging	Het
Ovgp1	T	C	3: 105,981,351		probably null	Het
Pcdhb20	T	C	18: 37,506,715	F765L	possibly damaging	Het
Ppp4r4	T	C	12: 103,581,405	V3A	probably benign	Het
Ruvbl1	A	G	6: 88,497,271	I419V	probably benign	Het
Scara5	T	A	14: 65,689,775	C40*	probably null	Het
Siglec1	T	C	2: 131,074,394	Q1212R	probably benign	Het
Slc31a1	G	A	4: 62,388,036		probably null	Het
Sparc	G	T	11: 55,405,243	N87K	probably damaging	Het
Tcf12	T	C	9: 71,868,996		probably null	Het
Timm44	A	T	8: 4,266,860	F258I	probably benign	Het
Tm2d2	G	T	8: 25,018,079	V80L	possibly damaging	Het
Tpr	A	G	1: 150,444,448	D2249G	possibly damaging	Het
Trim50	G	T	5: 135,363,882	G217V	possibly damaging	Het
Ugcg	T	C	4: 59,217,216		probably null	Het
Vmn2r107	A	T	17: 20,345,606	H61L	probably benign	Het
Zfp84	A	G	7: 29,776,666	H261R	probably benign	Het
Zswim2	A	T	2: 83,917,957	M293K	probably benign	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
IGL02160:Ext2	APN	2	93813584	missense	probably benign
IGL02677:Ext2	APN	2	93707245	missense	probably damaging	1.00
IGL02939:Ext2	APN	2	93704619	splice site	probably null
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
R7939:Ext2	UTSW	2	93730256	missense	probably damaging	1.00
R8160:Ext2	UTSW	2	93813762	missense	probably benign	0.05
Z1177:Ext2	UTSW	2	93703275	critical splice acceptor site	probably benign

Posted On

2014-02-04