Mutagenetix > Incidental Mutation

Incidental Mutation 'R8013:Ext1'

617028

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostosin glycosyltransferase 1

Synonyms

MMRRC Submission

067453-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52931657-53209579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52939283 bp (GRCm39)

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]

AlphaFold

P97464

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: 99.4%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	C	A	15: 12,824,615 (GRCm39)	D7Y	probably benign	Het
Ahnak	A	G	19: 8,986,699 (GRCm39)	D2661G	unknown	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Apob	T	A	12: 8,060,798 (GRCm39)	N3093K	possibly damaging	Het
Baz2a	C	T	10: 127,961,157 (GRCm39)	R1627C	probably benign	Het
Baz2a	T	G	10: 127,961,161 (GRCm39)	V1628G	possibly damaging	Het
Bbs7	A	T	3: 36,648,536 (GRCm39)	I404K	probably damaging	Het
Cacna1g	T	C	11: 94,347,796 (GRCm39)	Y764C	probably damaging	Het
Casr	G	A	16: 36,330,006 (GRCm39)	L443F	probably benign	Het
Cfap43	T	A	19: 47,761,548 (GRCm39)	I849F	probably damaging	Het
Cntn3	A	T	6: 102,176,278 (GRCm39)	H812Q	probably benign	Het
Cog1	A	G	11: 113,546,990 (GRCm39)	D528G	probably damaging	Het
Depdc5	C	T	5: 33,131,186 (GRCm39)	T1229M	probably benign	Het
Dis3	T	A	14: 99,314,835 (GRCm39)	R954W	possibly damaging	Het
Disp2	T	A	2: 118,620,163 (GRCm39)	Y298*	probably null	Het
Dnai3	T	C	3: 145,787,040 (GRCm39)	T332A	probably damaging	Het
Dock2	A	C	11: 34,596,677 (GRCm39)	I393S	probably damaging	Het
Dtd1	A	G	2: 144,459,252 (GRCm39)	D92G	probably damaging	Het
Eef2	T	A	10: 81,014,030 (GRCm39)	V121D	probably damaging	Het
Eml1	T	A	12: 108,487,938 (GRCm39)	I550N	probably benign	Het
Entpd7	A	G	19: 43,716,494 (GRCm39)	D496G	probably benign	Het
Ets2	T	A	16: 95,517,144 (GRCm39)	L292Q	probably damaging	Het
Fam20a	T	A	11: 109,576,332 (GRCm39)	E142D	possibly damaging	Het
Farp1	T	A	14: 121,479,813 (GRCm39)	I368N	probably damaging	Het
Fars2	C	T	13: 36,389,068 (GRCm39)	Q186*	probably null	Het
Fbn2	T	C	18: 58,237,153 (GRCm39)	T617A	possibly damaging	Het
Fbxo38	T	C	18: 62,663,882 (GRCm39)	E203G	possibly damaging	Het
Fcgbpl1	G	A	7: 27,836,966 (GRCm39)	R295H	probably benign	Het
Fhdc1	A	T	3: 84,381,946 (GRCm39)	M1K	probably null	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm28363	A	G	1: 117,654,534 (GRCm39)	R58G	probably benign	Het
Gm8356	A	T	14: 17,692,450 (GRCm39)	N58K	probably damaging	Het
Grsf1	A	G	5: 88,823,615 (GRCm39)		probably null	Het
Hephl1	T	A	9: 14,965,905 (GRCm39)	D1016V	possibly damaging	Het
Hrob	A	G	11: 102,148,725 (GRCm39)	N379D	probably benign	Het
Kcnma1	T	A	14: 23,423,211 (GRCm39)	I831F	probably benign	Het
Krt78	T	C	15: 101,856,977 (GRCm39)	R377G	probably damaging	Het
Lama2	T	C	10: 27,220,494 (GRCm39)	H457R	probably benign	Het
Lmnb1	T	A	18: 56,841,431 (GRCm39)	Y83N	probably damaging	Het
Loxl4	A	G	19: 42,596,115 (GRCm39)	C113R	probably damaging	Het
Lrba	A	T	3: 86,325,278 (GRCm39)	D1912V	probably damaging	Het
Macf1	T	A	4: 123,420,619 (GRCm39)	T212S	probably benign	Het
Map3k4	A	T	17: 12,489,918 (GRCm39)	C504*	probably null	Het
Map4k4	T	C	1: 40,001,372 (GRCm39)	I53T	unknown	Het
Mtcl2	A	G	2: 156,872,706 (GRCm39)		probably null	Het
Myo5b	C	T	18: 74,893,970 (GRCm39)	Q1700*	probably null	Het
Npas2	T	C	1: 39,377,146 (GRCm39)	F503L	probably benign	Het
Nrg1	A	T	8: 32,439,951 (GRCm39)	S149T	probably benign	Het
Or13c7	T	A	4: 43,854,958 (GRCm39)	F216L	probably benign	Het
Or2ag15	C	T	7: 106,340,824 (GRCm39)	V106I	probably benign	Het
Or4a71	A	G	2: 89,358,280 (GRCm39)	V158A	probably benign	Het
Or9r7	T	A	10: 129,962,647 (GRCm39)	K93M	probably damaging	Het
Pdia6	T	C	12: 17,323,966 (GRCm39)	L66S	probably damaging	Het
Prss35	T	C	9: 86,637,478 (GRCm39)	S83P	probably damaging	Het
Psme4	G	A	11: 30,754,320 (GRCm39)	M192I	probably benign	Het
Ptprs	A	C	17: 56,742,994 (GRCm39)	S383A	probably damaging	Het
Resf1	T	G	6: 149,230,368 (GRCm39)	V1138G	probably damaging	Het
Sar1b	C	T	11: 51,670,621 (GRCm39)	P55L	possibly damaging	Het
Sgsh	A	G	11: 119,243,521 (GRCm39)	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,218,794 (GRCm39)	Y465C	probably damaging	Het
Stard9	T	C	2: 120,518,582 (GRCm39)	I502T	probably damaging	Het
Sugp2	T	A	8: 70,704,292 (GRCm39)	Y610N	probably damaging	Het
Tbc1d24	G	A	17: 24,401,795 (GRCm39)	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,200,319 (GRCm39)	I99V	probably benign	Het
Tpr	G	T	1: 150,274,359 (GRCm39)	V163L	probably benign	Het
Usp31	T	C	7: 121,248,480 (GRCm39)	S988G	probably damaging	Het
Zbtb26	T	A	2: 37,327,013 (GRCm39)		probably null	Het
Zfp536	T	C	7: 37,269,035 (GRCm39)	N127S	probably damaging	Het
Zfp750	T	A	11: 121,403,843 (GRCm39)	D344V	possibly damaging	Het
Zmym5	T	A	14: 57,031,883 (GRCm39)	K408N	possibly damaging	Het

Other mutations in Ext1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00710:Ext1	APN	15	53,208,269 (GRCm39)	missense	probably damaging	1.00
IGL02081:Ext1	APN	15	52,936,842 (GRCm39)	nonsense	probably null
IGL03147:Ext1	UTSW	15	52,951,468 (GRCm39)	missense	probably damaging	0.98
R0047:Ext1	UTSW	15	53,208,542 (GRCm39)	missense	probably benign
R0047:Ext1	UTSW	15	53,208,542 (GRCm39)	missense	probably benign
R0437:Ext1	UTSW	15	52,969,502 (GRCm39)	missense	probably damaging	1.00
R0881:Ext1	UTSW	15	53,207,879 (GRCm39)	missense	probably benign	0.23
R1882:Ext1	UTSW	15	52,939,188 (GRCm39)	missense	probably damaging	1.00
R2135:Ext1	UTSW	15	52,965,140 (GRCm39)	missense	possibly damaging	0.88
R2175:Ext1	UTSW	15	52,932,124 (GRCm39)	missense	probably damaging	1.00
R2762:Ext1	UTSW	15	53,208,323 (GRCm39)	missense	probably benign	0.29
R3162:Ext1	UTSW	15	53,208,000 (GRCm39)	missense	possibly damaging	0.82
R3162:Ext1	UTSW	15	53,208,000 (GRCm39)	missense	possibly damaging	0.82
R3752:Ext1	UTSW	15	52,939,306 (GRCm39)	missense	probably damaging	1.00
R3815:Ext1	UTSW	15	53,208,485 (GRCm39)	missense	probably benign	0.05
R4096:Ext1	UTSW	15	52,936,753 (GRCm39)	missense	probably damaging	1.00
R4298:Ext1	UTSW	15	53,208,521 (GRCm39)	missense	probably benign	0.02
R4362:Ext1	UTSW	15	52,970,987 (GRCm39)	intron	probably benign
R4550:Ext1	UTSW	15	52,965,182 (GRCm39)	missense	probably damaging	0.99
R4647:Ext1	UTSW	15	52,953,383 (GRCm39)	missense	possibly damaging	0.95
R4648:Ext1	UTSW	15	52,953,383 (GRCm39)	missense	possibly damaging	0.95
R4871:Ext1	UTSW	15	52,955,773 (GRCm39)	missense	probably benign	0.37
R4954:Ext1	UTSW	15	53,207,888 (GRCm39)	missense	probably damaging	1.00
R5010:Ext1	UTSW	15	52,955,808 (GRCm39)	missense	probably damaging	1.00
R5153:Ext1	UTSW	15	52,939,213 (GRCm39)	missense	probably damaging	1.00
R5155:Ext1	UTSW	15	52,939,213 (GRCm39)	missense	probably damaging	1.00
R5328:Ext1	UTSW	15	52,939,213 (GRCm39)	missense	probably damaging	1.00
R5385:Ext1	UTSW	15	52,939,213 (GRCm39)	missense	probably damaging	1.00
R5542:Ext1	UTSW	15	52,939,213 (GRCm39)	missense	probably damaging	1.00
R5555:Ext1	UTSW	15	52,951,539 (GRCm39)	missense	probably damaging	1.00
R5779:Ext1	UTSW	15	53,207,949 (GRCm39)	missense	probably damaging	0.99
R5874:Ext1	UTSW	15	52,965,148 (GRCm39)	missense	possibly damaging	0.61
R6401:Ext1	UTSW	15	52,969,493 (GRCm39)	missense	possibly damaging	0.94
R6604:Ext1	UTSW	15	52,946,555 (GRCm39)	missense	probably damaging	0.99
R6847:Ext1	UTSW	15	53,208,550 (GRCm39)	missense	probably benign
R6885:Ext1	UTSW	15	52,965,088 (GRCm39)	missense	probably damaging	1.00
R7212:Ext1	UTSW	15	53,208,558 (GRCm39)	missense	probably benign	0.00
R7315:Ext1	UTSW	15	52,936,783 (GRCm39)	missense	probably damaging	1.00
R7361:Ext1	UTSW	15	53,208,119 (GRCm39)	missense	probably damaging	1.00
R7474:Ext1	UTSW	15	53,207,885 (GRCm39)	missense	probably damaging	0.98
R7853:Ext1	UTSW	15	52,970,881 (GRCm39)	missense	probably damaging	0.96
R7860:Ext1	UTSW	15	52,953,335 (GRCm39)	missense	possibly damaging	0.84
R8014:Ext1	UTSW	15	52,939,283 (GRCm39)	missense	possibly damaging	0.78
R8725:Ext1	UTSW	15	53,208,065 (GRCm39)	missense	possibly damaging	0.91
R8888:Ext1	UTSW	15	52,955,723 (GRCm39)	missense	probably damaging	1.00
R9162:Ext1	UTSW	15	53,208,504 (GRCm39)	nonsense	probably null
R9342:Ext1	UTSW	15	53,208,524 (GRCm39)	missense	probably benign
R9587:Ext1	UTSW	15	52,955,808 (GRCm39)	missense	possibly damaging	0.53
R9663:Ext1	UTSW	15	53,208,456 (GRCm39)	missense	probably damaging	0.96
R9753:Ext1	UTSW	15	53,208,067 (GRCm39)	missense	probably damaging	1.00
X0021:Ext1	UTSW	15	53,208,669 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAGTTGTTAGAAATCTCAGCTC -3'
(R):5'- TGCAGGGCAAAATGTCAAGC -3'

Sequencing Primer
(F):5'- TGTTAGAAATCTCAGCTCCGGGC -3'
(R):5'- GTCAAGCAGTCAGTTTAATTTGCTG -3'

Posted On

2020-01-23