Mutagenetix > Incidental Mutations

Incidental Mutation 'R8014:Ext1'

617098

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostoses (multiple) 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53064038-53346159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53075887 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 589 (I589V)

Ref Sequence

ENSEMBL: ENSMUSP00000076505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077273] [ENSMUST00000133362]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077273
AA Change: I589V

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: I589V

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	29	41	N/A	INTRINSIC
Pfam:Exostosin	110	396	6e-64	PFAM
Pfam:Glyco_transf_64	480	729	1.1e-106	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133362

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a lethal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	C	A	15: 12,824,529	D7Y	probably benign	Het
9530053A07Rik	G	A	7: 28,137,541	R295H	probably benign	Het
Aff1	A	G	5: 103,833,869	T625A	possibly damaging	Het
Aldh8a1	T	C	10: 21,389,302	V276A	probably benign	Het
Alkbh3	T	C	2: 94,001,513	D124G	probably benign	Het
Apob	T	A	12: 8,010,798	N3093K	possibly damaging	Het
Atp13a1	C	T	8: 69,799,779	R608*	probably null	Het
Bbs7	A	T	3: 36,594,387	I404K	probably damaging	Het
BC030867	A	G	11: 102,257,899	N379D	probably benign	Het
Cacna2d1	A	T	5: 16,342,691	T647S	possibly damaging	Het
Carmil1	T	C	13: 24,036,321	E1140G	possibly damaging	Het
Ccdc158	C	A	5: 92,649,030	E482D	probably damaging	Het
Ccdc92	A	T	5: 124,836,026	H146Q	probably damaging	Het
Cntnap4	T	A	8: 112,753,945	N341K	probably damaging	Het
Cog1	A	G	11: 113,656,164	D528G	probably damaging	Het
Cttnbp2	G	C	6: 18,426,093	A762G	possibly damaging	Het
D130043K22Rik	A	T	13: 24,856,702	I36F	probably damaging	Het
Dis3	T	A	14: 99,077,399	R954W	possibly damaging	Het
Fam20a	T	A	11: 109,685,506	E142D	possibly damaging	Het
Fars2	C	T	13: 36,205,085	Q186*	probably null	Het
Fhdc1	A	T	3: 84,474,639	M1K	probably null	Het
Gars	T	A	6: 55,073,407	F551Y	probably benign	Het
Gm28363	A	G	1: 117,726,804	R58G	probably benign	Het
Gm49333	A	T	16: 20,642,317	T618S	probably benign	Het
Gm8356	A	T	14: 6,536,303	N58K	probably damaging	Het
Gm9758	A	G	5: 14,911,440	V175A	possibly damaging	Het
Gpr182	T	C	10: 127,751,005	T26A	possibly damaging	Het
Gpr19	A	G	6: 134,869,473	Y416H	probably damaging	Het
Itgb7	T	A	15: 102,222,652	S322C	probably damaging	Het
Kcnma1	T	A	14: 23,373,143	I831F	probably benign	Het
Lrba	A	T	3: 86,417,971	D1912V	probably damaging	Het
Macf1	T	A	4: 123,526,826	T212S	probably benign	Het
Map3k4	A	T	17: 12,271,031	C504*	probably null	Het
Morc2a	T	C	11: 3,677,419	S281P	probably damaging	Het
Muc16	T	C	9: 18,654,875	H2116R	unknown	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Olfr1228	T	A	2: 89,248,999	I220F	probably damaging	Het
Olfr1264	C	A	2: 90,021,743	V108F	possibly damaging	Het
Olfr1469	A	T	19: 13,410,811	T81S	not run	Het
Olfr153	A	T	2: 87,532,164	M44L	probably benign	Het
Olfr155	T	A	4: 43,854,958	F216L	probably benign	Het
Olfr697	C	T	7: 106,741,617	V106I	probably benign	Het
Omg	T	C	11: 79,502,903	D43G	possibly damaging	Het
Pdia6	T	C	12: 17,273,965	L66S	probably damaging	Het
Pds5a	A	G	5: 65,627,739	I930T	possibly damaging	Het
Piezo2	C	T	18: 63,083,200	G1169S	probably benign	Het
Pkhd1	A	G	1: 20,508,891		probably null	Het
Plekhg1	A	T	10: 3,957,758	R947W		Het
Ptprs	A	C	17: 56,435,994	S383A	probably damaging	Het
Rin3	T	A	12: 102,361,371	L193*	probably null	Het
Sgsh	A	G	11: 119,352,695	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,311,478	Y465C	probably damaging	Het
Stab2	C	A	10: 86,850,903	S2259I	possibly damaging	Het
Tbc1d24	G	A	17: 24,182,821	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,292,898	I99V	probably benign	Het
Tmem108	A	T	9: 103,499,407	I281N	probably benign	Het
Usp31	T	C	7: 121,649,257	S988G	probably damaging	Het
Usp44	G	T	10: 93,852,709		probably null	Het
Zbtb26	T	A	2: 37,437,001		probably null	Het
Zfp599	A	G	9: 22,249,481	Y463H	probably benign	Het
Zfp750	T	A	11: 121,513,017	D344V	possibly damaging	Het
Zmym5	T	A	14: 56,794,426	K408N	possibly damaging	Het

Other mutations in Ext1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00710:Ext1	APN	15	53344873	missense	probably damaging	1.00
IGL02081:Ext1	APN	15	53073446	nonsense	probably null
IGL03147:Ext1	UTSW	15	53088072	missense	probably damaging	0.98
R0047:Ext1	UTSW	15	53345146	missense	probably benign
R0047:Ext1	UTSW	15	53345146	missense	probably benign
R0437:Ext1	UTSW	15	53106106	missense	probably damaging	1.00
R0881:Ext1	UTSW	15	53344483	missense	probably benign	0.23
R1882:Ext1	UTSW	15	53075792	missense	probably damaging	1.00
R2135:Ext1	UTSW	15	53101744	missense	possibly damaging	0.88
R2175:Ext1	UTSW	15	53068728	missense	probably damaging	1.00
R2762:Ext1	UTSW	15	53344927	missense	probably benign	0.29
R3162:Ext1	UTSW	15	53344604	missense	possibly damaging	0.82
R3162:Ext1	UTSW	15	53344604	missense	possibly damaging	0.82
R3752:Ext1	UTSW	15	53075910	missense	probably damaging	1.00
R3815:Ext1	UTSW	15	53345089	missense	probably benign	0.05
R4096:Ext1	UTSW	15	53073357	missense	probably damaging	1.00
R4298:Ext1	UTSW	15	53345125	missense	probably benign	0.02
R4362:Ext1	UTSW	15	53107591	intron	probably benign
R4550:Ext1	UTSW	15	53101786	missense	probably damaging	0.99
R4647:Ext1	UTSW	15	53089987	missense	possibly damaging	0.95
R4648:Ext1	UTSW	15	53089987	missense	possibly damaging	0.95
R4871:Ext1	UTSW	15	53092377	missense	probably benign	0.37
R4954:Ext1	UTSW	15	53344492	missense	probably damaging	1.00
R5010:Ext1	UTSW	15	53092412	missense	probably damaging	1.00
R5153:Ext1	UTSW	15	53075817	missense	probably damaging	1.00
R5155:Ext1	UTSW	15	53075817	missense	probably damaging	1.00
R5328:Ext1	UTSW	15	53075817	missense	probably damaging	1.00
R5385:Ext1	UTSW	15	53075817	missense	probably damaging	1.00
R5542:Ext1	UTSW	15	53075817	missense	probably damaging	1.00
R5555:Ext1	UTSW	15	53088143	missense	probably damaging	1.00
R5779:Ext1	UTSW	15	53344553	missense	probably damaging	0.99
R5874:Ext1	UTSW	15	53101752	missense	possibly damaging	0.61
R6401:Ext1	UTSW	15	53106097	missense	possibly damaging	0.94
R6604:Ext1	UTSW	15	53083159	missense	probably damaging	0.99
R6847:Ext1	UTSW	15	53345154	missense	probably benign
R6885:Ext1	UTSW	15	53101692	missense	probably damaging	1.00
R7212:Ext1	UTSW	15	53345162	missense	probably benign	0.00
R7315:Ext1	UTSW	15	53073387	missense	probably damaging	1.00
R7361:Ext1	UTSW	15	53344723	missense	probably damaging	1.00
R7474:Ext1	UTSW	15	53344489	missense	probably damaging	0.98
R7853:Ext1	UTSW	15	53107485	missense	probably damaging	0.96
R7860:Ext1	UTSW	15	53089939	missense	possibly damaging	0.84
R8013:Ext1	UTSW	15	53075887	missense	possibly damaging	0.78
R8725:Ext1	UTSW	15	53344669	missense	possibly damaging	0.91
R8888:Ext1	UTSW	15	53092327	missense	probably damaging	1.00
X0021:Ext1	UTSW	15	53345273	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAGTTGTTAGAAATCTCAGCTCC -3'
(R):5'- GTCAAGCAGTCAGTTTAATTTGCTG -3'

Sequencing Primer
(F):5'- TCAGTGTGTAAGAGCACCCGAC -3'
(R):5'- CAGTTTAATTTGCTGATGAATATGGG -3'

Posted On

2020-01-23