Mutagenetix > Incidental Mutation

Incidental Mutation 'R4550:Ext1'

333925

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostosin glycosyltransferase 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4550 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52931657-53209579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52965182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 395 (S395P)

Ref Sequence

ENSEMBL: ENSMUSP00000076505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077273] [ENSMUST00000110244] [ENSMUST00000133362]

AlphaFold

P97464

Predicted Effect

probably damaging
Transcript: ENSMUST00000077273
AA Change: S395P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: S395P

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

noncoding transcript
Transcript: ENSMUST00000110244

SMART Domains

Protein: ENSMUSP00000105873
Gene: ENSMUSG00000061731

Domain	Start	End	E-Value	Type
Pfam:Exostosin	4	82	1.1e-29	PFAM
Pfam:Glyco_transf_64	166	239	2.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140798

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd53	T	C	6: 83,742,242 (GRCm39)	V153A	probably damaging	Het
Fhdc1	T	C	3: 84,352,483 (GRCm39)	K914R	probably benign	Het
Gm128	T	C	3: 95,147,472 (GRCm39)	D274G	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kmt2c	G	C	5: 25,505,172 (GRCm39)	R3379G	probably damaging	Het
Myh14	T	C	7: 44,283,857 (GRCm39)	S675G	probably damaging	Het
Pop1	T	C	15: 34,529,082 (GRCm39)	F704S	probably damaging	Het
Ryr1	T	C	7: 28,798,160 (GRCm39)	T961A	probably benign	Het
Serpina11	A	G	12: 103,949,154 (GRCm39)	F341S	probably damaging	Het
Snapc1	C	A	12: 74,017,053 (GRCm39)	D9E	probably damaging	Het
Syt8	G	T	7: 141,993,199 (GRCm39)	V35L	probably benign	Het
Tchh	A	G	3: 93,352,617 (GRCm39)	R686G	unknown	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably 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
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
R8013:Ext1	UTSW	15	52,939,283 (GRCm39)	missense	possibly damaging	0.78
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'- GCTGTCACTAAACTATGCAAGGAC -3'
(R):5'- CATCATTTCAGCCTGGGTGATG -3'

Sequencing Primer
(F):5'- GACAGGAAATTTGGTTTTGTCCTAC -3'
(R):5'- GCAACCCACTGAGTTGT -3'

Posted On

2015-08-18