Mutagenetix > Incidental Mutation

Incidental Mutation 'R4647:Ext1'

350427

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostosin glycosyltransferase 1

Synonyms

MMRRC Submission

041908-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4647 (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 52953383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 494 (S494P)

Ref Sequence

ENSEMBL: ENSMUSP00000076505 (fasta)

Gene Model

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

AlphaFold

P97464

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077273
AA Change: S494P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: S494P

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
Aatf	T	C	11: 84,362,023 (GRCm39)	D313G	possibly damaging	Het
Abcb11	T	G	2: 69,115,615 (GRCm39)	D583A	probably damaging	Het
Adgrv1	A	T	13: 81,676,914 (GRCm39)	Y1252*	probably null	Het
Aim2	T	C	1: 173,283,090 (GRCm39)		silent	Het
Angpt1	T	A	15: 42,539,580 (GRCm39)	Y93F	probably benign	Het
Ankrd27	C	T	7: 35,337,659 (GRCm39)	P991L	probably benign	Het
Ap1s3	C	T	1: 79,591,920 (GRCm39)		probably null	Het
Apbb1	A	C	7: 105,214,745 (GRCm39)	S500A	probably benign	Het
Arc	G	A	15: 74,543,374 (GRCm39)	A283V	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
C1qtnf4	T	A	2: 90,719,996 (GRCm39)	S90T	probably damaging	Het
Cachd1	A	T	4: 100,810,327 (GRCm39)	K310*	probably null	Het
Calhm1	A	G	19: 47,132,240 (GRCm39)	L125P	probably damaging	Het
Carmil1	G	A	13: 24,321,162 (GRCm39)	L278F	probably damaging	Het
Ccar1	A	T	10: 62,583,196 (GRCm39)	Y972*	probably null	Het
Cd163	C	T	6: 124,297,580 (GRCm39)	P909S	probably damaging	Het
Cd44	T	A	2: 102,668,274 (GRCm39)	H268L	possibly damaging	Het
Cdkl2	A	T	5: 92,165,072 (GRCm39)	L517Q	probably damaging	Het
Cep68	G	T	11: 20,189,349 (GRCm39)	N554K	probably benign	Het
Ces1d	A	G	8: 93,893,038 (GRCm39)	W515R	probably damaging	Het
Clca4b	A	C	3: 144,634,286 (GRCm39)	H102Q	probably benign	Het
Cldn15	T	A	5: 137,003,337 (GRCm39)	I142N	probably damaging	Het
Cmklr1	T	A	5: 113,752,701 (GRCm39)	D100V	probably damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
D430041D05Rik	G	A	2: 104,088,788 (GRCm39)	P63S	probably damaging	Het
Ddx39a	A	T	8: 84,448,902 (GRCm39)	H259L	probably benign	Het
Dhx16	C	G	17: 36,196,527 (GRCm39)	A565G	probably benign	Het
Dimt1	A	T	13: 107,084,163 (GRCm39)	D50V	probably benign	Het
Dock9	A	T	14: 121,823,658 (GRCm39)	L1428H	probably damaging	Het
Dpp4	G	T	2: 62,164,949 (GRCm39)	T700K	probably damaging	Het
E030030I06Rik	T	A	10: 22,024,744 (GRCm39)	R56S	unknown	Het
Eea1	A	G	10: 95,864,255 (GRCm39)	T925A	probably benign	Het
Fam171a1	G	A	2: 3,221,328 (GRCm39)	E140K	probably damaging	Het
Fgfr3	C	T	5: 33,892,330 (GRCm39)		probably benign	Het
Gabra6	A	G	11: 42,198,199 (GRCm39)	I407T	probably damaging	Het
Gm16223	C	A	5: 42,371,954 (GRCm39)	L115M	unknown	Het
Gm4781	G	T	10: 100,232,862 (GRCm39)		noncoding transcript	Het
Gm9772	T	A	17: 22,226,013 (GRCm39)	I70F	possibly damaging	Het
Gpr107	T	A	2: 31,100,513 (GRCm39)	F497Y	probably damaging	Het
Grm7	T	A	6: 110,891,344 (GRCm39)	Y192*	probably null	Het
Gtf2ird2	G	A	5: 134,245,034 (GRCm39)	A431T	probably damaging	Het
H2-K2	T	A	17: 34,194,989 (GRCm39)		noncoding transcript	Het
H2-M11	T	A	17: 36,858,883 (GRCm39)	V141D	probably benign	Het
Hmcn1	A	G	1: 150,551,262 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,289,031 (GRCm39)	Q2280L	possibly damaging	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Igfbp7	T	A	5: 77,499,143 (GRCm39)	Q285L	possibly damaging	Het
Igkv13-85	T	A	6: 68,907,720 (GRCm39)		probably benign	Het
Inpp5e	A	T	2: 26,297,926 (GRCm39)	L225H	probably benign	Het
Inpp5f	T	A	7: 128,260,833 (GRCm39)	V91E	possibly damaging	Het
Khdc3	A	G	9: 73,009,868 (GRCm39)	E26G	possibly damaging	Het
Klra5	T	A	6: 129,876,339 (GRCm39)	D156V	probably damaging	Het
Kmo	C	A	1: 175,487,340 (GRCm39)	Y430*	probably null	Het
Lbx2	A	G	6: 83,065,027 (GRCm39)	D188G	probably damaging	Het
Lcorl	A	T	5: 45,890,931 (GRCm39)	L474*	probably null	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Lrrc45	T	A	11: 120,609,947 (GRCm39)	S464T	probably benign	Het
Ltc4s	T	A	11: 50,128,052 (GRCm39)	T61S	probably benign	Het
Luc7l3	A	C	11: 94,200,467 (GRCm39)	N50K	probably damaging	Het
Ly75	G	A	2: 60,138,622 (GRCm39)	T1415M	probably damaging	Het
Macf1	T	C	4: 123,367,420 (GRCm39)	E2447G	probably benign	Het
Map3k21	A	G	8: 126,668,850 (GRCm39)	D812G	probably benign	Het
Mbtd1	C	T	11: 93,815,437 (GRCm39)	H342Y	probably damaging	Het
Mest	C	T	6: 30,745,109 (GRCm39)	R226*	probably null	Het
Mindy1	A	T	3: 95,190,054 (GRCm39)		probably benign	Het
Mmp13	A	T	9: 7,274,233 (GRCm39)	D180V	probably damaging	Het
Mn1	A	G	5: 111,567,949 (GRCm39)	T640A	probably benign	Het
Msi2	T	C	11: 88,608,864 (GRCm39)	H18R	possibly damaging	Het
Myo18a	T	A	11: 77,708,776 (GRCm39)	V61E	probably damaging	Het
Myo19	T	G	11: 84,785,468 (GRCm39)	I237S	probably damaging	Het
Ncaph2	T	A	15: 89,254,635 (GRCm39)	L416Q	probably damaging	Het
Nlrp1a	T	A	11: 70,987,952 (GRCm39)		probably null	Het
Or1n1b	A	G	2: 36,780,663 (GRCm39)	F66L	probably benign	Het
Or2d4	A	T	7: 106,543,547 (GRCm39)	N220K	probably benign	Het
Or51a25	A	G	7: 102,373,299 (GRCm39)	S133P	probably damaging	Het
Or5b98	A	G	19: 12,931,441 (GRCm39)	I163V	probably benign	Het
Or8s10	G	T	15: 98,335,457 (GRCm39)	V36F	probably benign	Het
Padi2	T	C	4: 140,671,757 (GRCm39)	F495S	probably damaging	Het
Pan3	G	T	5: 147,464,013 (GRCm39)	D535Y	probably damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Patl1	T	A	19: 11,891,798 (GRCm39)	D34E	probably damaging	Het
Pcdha6	A	T	18: 37,102,189 (GRCm39)	T461S	probably damaging	Het
Pcnt	T	C	10: 76,190,047 (GRCm39)	S2830G	probably benign	Het
Pdgfa	G	A	5: 138,964,939 (GRCm39)	T181I	probably benign	Het
Pds5a	C	A	5: 65,813,661 (GRCm39)	D275Y	probably damaging	Het
Plod2	T	A	9: 92,487,503 (GRCm39)	Y607*	probably null	Het
Pomt2	G	T	12: 87,164,857 (GRCm39)	T517K	possibly damaging	Het
Pramel23	T	C	4: 143,425,914 (GRCm39)	M10V	probably benign	Het
Prdm1	T	C	10: 44,315,686 (GRCm39)	T817A	probably damaging	Het
Prdm2	T	C	4: 142,859,525 (GRCm39)	D1255G	possibly damaging	Het
Prex2	T	A	1: 11,232,509 (GRCm39)	C859S	probably damaging	Het
Ralgapa2	A	T	2: 146,229,549 (GRCm39)	M1077K	possibly damaging	Het
Ralgds	T	C	2: 28,435,532 (GRCm39)		probably null	Het
Rasa3	T	C	8: 13,638,865 (GRCm39)	E314G	probably null	Het
Rasa4	T	A	5: 136,130,217 (GRCm39)	D324E	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rnf139	A	T	15: 58,771,836 (GRCm39)	L620F	probably benign	Het
Rptor	T	A	11: 119,781,989 (GRCm39)	N1105K	probably benign	Het
Scaf11	A	T	15: 96,317,981 (GRCm39)		probably null	Het
Sectm1b	A	T	11: 120,946,760 (GRCm39)	V45E	probably damaging	Het
Selenon	A	G	4: 134,272,968 (GRCm39)	W157R	probably damaging	Het
Sema3b	C	A	9: 107,476,250 (GRCm39)	R657L	possibly damaging	Het
Setd1b	C	T	5: 123,286,175 (GRCm39)	A407V	unknown	Het
Sh3tc1	C	T	5: 35,863,662 (GRCm39)	A842T	probably damaging	Het
Shank2	A	G	7: 143,965,566 (GRCm39)	E1268G	probably damaging	Het
Shmt1	G	A	11: 60,692,291 (GRCm39)	S155F	probably damaging	Het
Sim2	A	G	16: 93,924,385 (GRCm39)	E510G	possibly damaging	Het
Slc25a46	A	T	18: 31,733,245 (GRCm39)	I168N	probably damaging	Het
Slc26a4	T	G	12: 31,590,525 (GRCm39)	D376A	possibly damaging	Het
Slfn14	G	T	11: 83,167,484 (GRCm39)	A677E	probably benign	Het
Slk	G	T	19: 47,608,713 (GRCm39)	Q555H	possibly damaging	Het
Synj1	A	T	16: 90,770,877 (GRCm39)	D517E	probably damaging	Het
Syvn1	G	A	19: 6,101,504 (GRCm39)	R440Q	probably benign	Het
Tafa5	T	G	15: 87,604,783 (GRCm39)	S115A	probably damaging	Het
Tas2r118	A	T	6: 23,969,467 (GRCm39)	I198N	probably damaging	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Timeless	A	G	10: 128,075,825 (GRCm39)	Y19C	possibly damaging	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trmt1l	G	T	1: 151,333,632 (GRCm39)	V712F	possibly damaging	Het
Tti1	T	C	2: 157,848,940 (GRCm39)		probably benign	Het
Ulk4	T	C	9: 120,970,918 (GRCm39)	H1018R	probably benign	Het
Vim	A	T	2: 13,587,306 (GRCm39)	H461L	probably benign	Het
Vmn2r118	T	A	17: 55,917,665 (GRCm39)	E282D	probably damaging	Het
Vmn2r31	T	A	7: 7,387,367 (GRCm39)	I735F	probably damaging	Het
Vmn2r88	A	G	14: 51,656,250 (GRCm39)	M829V	probably benign	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Wbp2	T	A	11: 115,973,207 (GRCm39)	M67L	probably benign	Het
Wdr81	T	A	11: 75,336,814 (GRCm39)	E1525V	probably damaging	Het
Xbp1	A	G	11: 5,472,006 (GRCm39)	D44G	probably damaging	Het
Zfhx4	T	G	3: 5,464,341 (GRCm39)	F1500V	probably damaging	Het
Zfp286	A	C	11: 62,674,559 (GRCm39)	Y95*	probably null	Het
Zfp872	A	G	9: 22,111,057 (GRCm39)	T178A	possibly damaging	Het
Zkscan5	A	G	5: 145,155,640 (GRCm39)	H364R	possibly damaging	Het
Zp3r	A	T	1: 130,505,697 (GRCm39)	Y422N	probably damaging	Het
Zscan10	C	T	17: 23,829,314 (GRCm39)	R542C	probably benign	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
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'- TCTGAAATCTGACTTGTGCCAGG -3'
(R):5'- TTGAGGGACAGCAACTCCAG -3'

Sequencing Primer
(F):5'- AAATCTGACTTGTGCCAGGTTTCAC -3'
(R):5'- TCCAGGGTAAACCACTGGGAC -3'

Posted On

2015-10-08