Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02160:Ext2'

282403

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ext2

Ensembl Gene

ENSMUSG00000027198

Gene Name

exostosin glycosyltransferase 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02160

Quality Score

Status

Chromosome

Chromosomal Location

93525978-93652913 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93643929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 117 (D117E)

Ref Sequence

ENSEMBL: ENSMUSP00000138956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028623] [ENSMUST00000111248] [ENSMUST00000125407] [ENSMUST00000145838] [ENSMUST00000184931]

AlphaFold

P70428

Predicted Effect

probably benign
Transcript: ENSMUST00000028623
AA Change: D117E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028623
Gene: ENSMUSG00000027198
AA Change: D117E

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: ENSMUST00000111248
AA Change: D117E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106879
Gene: ENSMUSG00000027198
AA Change: D117E

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125027

Predicted Effect

probably benign
Transcript: ENSMUST00000125407
AA Change: D117E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120291
Gene: ENSMUSG00000027198
AA Change: D117E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145838
AA Change: D117E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122144
Gene: ENSMUSG00000027198
AA Change: D117E

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC
Pfam:Exostosin	100	213	2.5e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157046

Predicted Effect

probably benign
Transcript: ENSMUST00000184931
AA Change: D117E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138956
Gene: ENSMUSG00000027198
AA Change: D117E

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	G	9: 53,503,287 (GRCm39)	V184A	probably benign	Het
Adam19	G	A	11: 46,030,522 (GRCm39)	C750Y	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cabp2	T	A	19: 4,134,868 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,731,015 (GRCm39)	M94T	possibly damaging	Het
Ccdc107	A	G	4: 43,495,736 (GRCm39)	D213G	probably damaging	Het
Cdh23	T	C	10: 60,433,544 (GRCm39)		probably benign	Het
Cfap251	A	T	5: 123,394,081 (GRCm39)	E323D	unknown	Het
Cfhr2	T	A	1: 139,738,664 (GRCm39)	D299V	probably benign	Het
Clcn7	T	C	17: 25,368,004 (GRCm39)		probably benign	Het
Clspn	G	A	4: 126,475,303 (GRCm39)	E1019K	probably benign	Het
Ctnna3	A	G	10: 64,086,477 (GRCm39)	T350A	probably benign	Het
Dmbt1	G	A	7: 130,684,418 (GRCm39)	G638E	probably damaging	Het
Fem1al	A	T	11: 29,773,593 (GRCm39)	Y621*	probably null	Het
Ffar4	T	A	19: 38,085,903 (GRCm39)	V110D	possibly damaging	Het
Foxred2	G	T	15: 77,839,850 (GRCm39)	Q147K	probably benign	Het
Heatr9	T	C	11: 83,409,651 (GRCm39)	D107G	probably benign	Het
Hmgxb3	G	A	18: 61,304,308 (GRCm39)	A94V	probably damaging	Het
Htr5b	A	T	1: 121,455,774 (GRCm39)	S49T	possibly damaging	Het
Il1rl1	A	T	1: 40,500,997 (GRCm39)	M458L	probably benign	Het
Il23r	A	T	6: 67,400,562 (GRCm39)	N589K	probably benign	Het
Kbtbd11	G	A	8: 15,078,801 (GRCm39)	V467M	probably damaging	Het
Kidins220	T	A	12: 25,054,110 (GRCm39)	Y537N	probably damaging	Het
Kif27	T	A	13: 58,473,812 (GRCm39)	E728D	probably damaging	Het
Lum	T	C	10: 97,404,443 (GRCm39)	S113P	probably damaging	Het
Mkln1	A	G	6: 31,469,726 (GRCm39)		probably benign	Het
Mmp17	A	G	5: 129,672,633 (GRCm39)	D195G	possibly damaging	Het
Naa38	T	A	11: 69,287,194 (GRCm39)		probably benign	Het
Naalad2	G	A	9: 18,291,233 (GRCm39)	A191V	probably damaging	Het
Naip6	A	T	13: 100,435,933 (GRCm39)	H863Q	probably benign	Het
Ncoa6	A	G	2: 155,263,003 (GRCm39)	V477A	possibly damaging	Het
Nipal3	G	T	4: 135,201,728 (GRCm39)	Y153*	probably null	Het
Or10s1	A	T	9: 39,986,482 (GRCm39)	N297I	probably damaging	Het
Or13d1	A	G	4: 52,971,194 (GRCm39)	D191G	probably damaging	Het
Or4c12	G	T	2: 89,774,149 (GRCm39)	H103Q	probably damaging	Het
Or4g16	G	A	2: 111,137,143 (GRCm39)	V198I	probably benign	Het
Or9s23	T	A	1: 92,501,079 (GRCm39)	L62Q	probably damaging	Het
Pik3c2a	G	A	7: 115,987,299 (GRCm39)	P541S	probably damaging	Het
Ppargc1b	A	T	18: 61,443,506 (GRCm39)	D552E	probably damaging	Het
Ppfia3	C	A	7: 45,009,475 (GRCm39)		probably benign	Het
Prcp	G	A	7: 92,566,969 (GRCm39)	S227N	probably benign	Het
Ptprq	T	A	10: 107,489,426 (GRCm39)	T900S	probably benign	Het
Ralgapa2	G	A	2: 146,190,360 (GRCm39)		probably benign	Het
Rcsd1	A	G	1: 165,485,148 (GRCm39)	S102P	probably damaging	Het
Rfwd3	T	A	8: 111,999,707 (GRCm39)	N757I	possibly damaging	Het
Rnf217	A	T	10: 31,381,767 (GRCm39)		probably null	Het
Scn2a	A	G	2: 65,560,460 (GRCm39)	D1230G	probably damaging	Het
Sdc3	T	C	4: 130,545,886 (GRCm39)		probably benign	Het
Slc27a4	G	T	2: 29,695,974 (GRCm39)	D170Y	probably benign	Het
Tcof1	A	G	18: 60,981,815 (GRCm39)		probably benign	Het
Ticam1	T	A	17: 56,577,560 (GRCm39)	I512F	possibly damaging	Het
Ticrr	T	C	7: 79,343,767 (GRCm39)	C1211R	probably benign	Het
Tlr2	A	T	3: 83,744,678 (GRCm39)	N468K	possibly damaging	Het
Tmod4	T	C	3: 95,036,424 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,933,719 (GRCm39)	S2380P	probably benign	Het
Top6bl	T	C	19: 4,713,612 (GRCm39)	D276G	probably damaging	Het
Tox	A	G	4: 6,711,537 (GRCm39)	V309A	probably damaging	Het
Tpgs2	A	G	18: 25,273,637 (GRCm39)	F175L	possibly damaging	Het
Trim43b	A	G	9: 88,973,683 (GRCm39)	S17P	probably benign	Het
Ttc21a	G	T	9: 119,785,989 (GRCm39)	L662F	probably damaging	Het
Ubqln1	A	T	13: 58,339,951 (GRCm39)	N261K	probably damaging	Het
Umodl1	T	C	17: 31,205,091 (GRCm39)	V562A	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vars1	T	A	17: 35,220,478 (GRCm39)	I20N	probably damaging	Het
Vcan	T	C	13: 89,832,612 (GRCm39)	N3092D	probably damaging	Het
Zc3h6	G	T	2: 128,839,605 (GRCm39)	E139D	probably benign	Het

Other mutations in Ext2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01132:Ext2	APN	2	93,621,418 (GRCm39)	missense	probably benign
IGL01554:Ext2	APN	2	93,642,294 (GRCm39)	missense	probably damaging	1.00
IGL01768:Ext2	APN	2	93,621,455 (GRCm39)	splice site	probably benign
IGL02677:Ext2	APN	2	93,537,590 (GRCm39)	missense	probably damaging	1.00
IGL02939:Ext2	APN	2	93,534,964 (GRCm39)	splice site	probably null
IGL03013:Ext2	APN	2	93,537,571 (GRCm39)	intron	probably benign
IGL03286:Ext2	APN	2	93,537,617 (GRCm39)	missense	probably damaging	1.00
R0018:Ext2	UTSW	2	93,626,037 (GRCm39)	missense	probably damaging	1.00
R0526:Ext2	UTSW	2	93,636,430 (GRCm39)	missense	probably damaging	0.99
R0580:Ext2	UTSW	2	93,626,070 (GRCm39)	missense	probably benign	0.31
R1383:Ext2	UTSW	2	93,636,458 (GRCm39)	missense	possibly damaging	0.92
R1538:Ext2	UTSW	2	93,537,632 (GRCm39)	missense	probably damaging	1.00
R1743:Ext2	UTSW	2	93,560,570 (GRCm39)	missense	probably damaging	1.00
R1792:Ext2	UTSW	2	93,534,890 (GRCm39)	missense	probably damaging	1.00
R2874:Ext2	UTSW	2	93,570,031 (GRCm39)	missense	possibly damaging	0.95
R3122:Ext2	UTSW	2	93,644,170 (GRCm39)	missense	probably damaging	1.00
R4624:Ext2	UTSW	2	93,533,545 (GRCm39)	missense	probably benign	0.26
R4653:Ext2	UTSW	2	93,526,504 (GRCm39)	missense	probably benign	0.22
R4826:Ext2	UTSW	2	93,592,975 (GRCm39)	missense	probably benign	0.15
R4828:Ext2	UTSW	2	93,626,112 (GRCm39)	missense	probably benign	0.08
R4936:Ext2	UTSW	2	93,644,024 (GRCm39)	nonsense	probably null
R5311:Ext2	UTSW	2	93,526,606 (GRCm39)	missense	probably benign	0.04
R5799:Ext2	UTSW	2	93,642,317 (GRCm39)	missense	probably benign	0.01
R5850:Ext2	UTSW	2	93,644,004 (GRCm39)	missense	possibly damaging	0.94
R6230:Ext2	UTSW	2	93,592,965 (GRCm39)	missense	probably damaging	1.00
R6488:Ext2	UTSW	2	93,636,430 (GRCm39)	missense	probably damaging	0.99
R7047:Ext2	UTSW	2	93,570,002 (GRCm39)	missense	probably damaging	0.99
R7173:Ext2	UTSW	2	93,643,957 (GRCm39)	missense	probably damaging	1.00
R7391:Ext2	UTSW	2	93,560,612 (GRCm39)	missense	probably damaging	1.00
R7530:Ext2	UTSW	2	93,491,998 (GRCm39)	missense	probably benign	0.00
R7545:Ext2	UTSW	2	93,644,108 (GRCm39)	missense	probably benign
R7939:Ext2	UTSW	2	93,560,601 (GRCm39)	missense	probably damaging	1.00
R8160:Ext2	UTSW	2	93,644,107 (GRCm39)	missense	probably benign	0.05
R9072:Ext2	UTSW	2	93,644,144 (GRCm39)	missense	probably benign	0.28
R9245:Ext2	UTSW	2	93,534,836 (GRCm39)	missense	probably benign	0.23
R9338:Ext2	UTSW	2	93,526,603 (GRCm39)	missense	probably damaging	1.00
R9430:Ext2	UTSW	2	93,592,999 (GRCm39)	missense	possibly damaging	0.84
R9487:Ext2	UTSW	2	93,592,956 (GRCm39)	missense	probably damaging	1.00
Z1177:Ext2	UTSW	2	93,533,620 (GRCm39)	critical splice acceptor site	probably benign

Posted On

2015-04-16