Mutagenetix > Incidental Mutation

Incidental Mutation 'R5542:Ext1'

436061

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostoses (multiple) 1

Synonyms

MMRRC Submission

043100-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53064038-53346159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53075817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 612 (W612L)

Ref Sequence

ENSEMBL: ENSMUSP00000076505 (fasta)

Gene Model

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

AlphaFold

P97464

Predicted Effect

probably damaging
Transcript: ENSMUST00000077273
AA Change: W612L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: W612L

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	T	19: 5,503,435	V106D	probably damaging	Het
9530053A07Rik	A	T	7: 28,155,489	I1847F	probably damaging	Het
Aadacl2	C	T	3: 60,025,063	T333I	probably damaging	Het
Acacb	C	T	5: 114,195,737	R574C	probably damaging	Het
Actr10	T	C	12: 70,954,656		probably benign	Het
Ankdd1a	T	A	9: 65,504,190		probably null	Het
Anks4b	C	T	7: 120,182,423	Q226*	probably null	Het
AW146154	C	A	7: 41,481,377	G105V	probably benign	Het
Ccdc129	C	A	6: 55,978,395	P996Q	probably damaging	Het
Cdh4	T	A	2: 179,860,226	N326K	probably damaging	Het
Cnbd1	T	C	4: 18,860,517	T410A	possibly damaging	Het
Cndp2	A	T	18: 84,672,076	M247K	probably damaging	Het
Crx	G	A	7: 15,868,337	R139C	probably damaging	Het
Ctrc	A	G	4: 141,843,726	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,621,245	D326G	probably damaging	Het
Edem1	C	T	6: 108,854,329	R584C	possibly damaging	Het
Emcn	A	G	3: 137,379,877	T79A	probably benign	Het
Fbrsl1	C	T	5: 110,378,441	G437R	probably damaging	Het
Fbxo7	A	C	10: 86,033,285	Q201P	probably benign	Het
Fbxo9	T	C	9: 78,101,656	M12V	possibly damaging	Het
Flii	A	G	11: 60,718,862	S640P	probably benign	Het
Fsip2	A	T	2: 82,981,863	N2842I	possibly damaging	Het
Fst	G	T	13: 114,455,705	Q159K	probably damaging	Het
Fuom	A	T	7: 140,100,112	*109R	probably null	Het
Gm9573	T	C	17: 35,622,503		probably benign	Het
Gm9992	A	T	17: 7,369,788	C334S	probably benign	Het
Hhipl2	A	G	1: 183,433,146	D377G	probably damaging	Het
Hspa14	A	G	2: 3,502,523	V116A	possibly damaging	Het
Ighm	A	G	12: 113,418,981		probably benign	Het
Ighv1-85	T	A	12: 116,000,227	Y51F	probably benign	Het
Ighv2-3	A	T	12: 113,611,213	D107E	probably benign	Het
Ighv2-6-8	T	A	12: 113,796,567	M1L	probably benign	Het
Ipo5	T	C	14: 120,926,271	V247A	probably benign	Het
Itga9	T	C	9: 118,843,661	F154L	possibly damaging	Het
Knl1	T	A	2: 119,068,348	C177S	possibly damaging	Het
Lrrc17	G	A	5: 21,575,158	G377S	probably damaging	Het
Marveld3	A	T	8: 109,948,617	I189K	probably benign	Het
Msantd2	G	A	9: 37,517,259	G185R	probably damaging	Het
Mtcl1	G	A	17: 66,384,359		probably benign	Het
Mycbpap	A	T	11: 94,507,746		probably null	Het
Nbeal1	A	G	1: 60,277,194	D1852G	probably benign	Het
Ndc80	A	T	17: 71,500,281	V560D	probably benign	Het
Olfr1505	T	C	19: 13,919,047	V9A	probably benign	Het
Olfr2	A	T	7: 107,001,079	S260R	probably damaging	Het
Olfr330	A	C	11: 58,529,884	V34G	probably benign	Het
Olfr384	T	A	11: 73,603,204	V208E	possibly damaging	Het
Olfr679	A	T	7: 105,086,358	D214V	probably damaging	Het
Pcdhga4	A	T	18: 37,686,598	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,486,649		silent	Het
Plxna4	T	A	6: 32,206,230	I913F	probably damaging	Het
Psmc1	T	C	12: 100,120,140		probably null	Het
Robo2	G	A	16: 73,898,965	T1430I	probably benign	Het
Safb2	G	A	17: 56,575,647	R329C	probably damaging	Het
Sept14	T	C	5: 129,697,862	H83R	probably damaging	Het
Slc16a10	A	G	10: 40,076,788	F237L	probably benign	Het
Slc37a1	A	T	17: 31,340,262	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,735,189	F233S	probably damaging	Het
Smyd3	A	T	1: 179,410,459	D114E	probably benign	Het
Sned1	T	C	1: 93,271,602	I468T	probably benign	Het
Speer4a	T	A	5: 26,036,738	N130I	probably damaging	Het
Tdrd7	T	C	4: 46,029,757	V1030A	probably benign	Het
Trip12	A	T	1: 84,749,344	D1135E	probably damaging	Het
Tsga10	T	A	1: 37,761,517	D542V	probably damaging	Het
Ubqlnl	G	A	7: 104,149,697	Q198*	probably null	Het
Usp46	A	T	5: 74,029,241	M43K	probably benign	Het
Vmn1r175	A	T	7: 23,809,106	I32N	possibly damaging	Het
Vmn1r29	C	T	6: 58,308,123	T276I	probably benign	Het
Vmn1r81	A	T	7: 12,260,107	D191E	probably damaging	Het
Zbtb5	C	A	4: 44,995,052	V111F	probably damaging	Het
Zfp12	C	T	5: 143,244,485	P189L	possibly damaging	Het
Zfp729b	A	G	13: 67,591,021	F1042L	probably benign	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
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
R8014: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
R9162:Ext1	UTSW	15	53345108	nonsense	probably null
R9342:Ext1	UTSW	15	53345128	missense	probably benign
R9587:Ext1	UTSW	15	53092412	missense	possibly damaging	0.53
R9663:Ext1	UTSW	15	53345060	missense	probably damaging	0.96
R9753:Ext1	UTSW	15	53344671	missense	probably damaging	1.00
X0021:Ext1	UTSW	15	53345273	missense	probably benign

Predicted Primers

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

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

Posted On

2016-10-24