Mutagenetix > Incidental Mutation

Incidental Mutation 'R9587:Ext1'

722853

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostoses (multiple) 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9587 (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 53092412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 430 (I430V)

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: I430V

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: I430V

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,069,149	L3552Q	probably damaging	Het
Atat1	T	C	17: 35,898,290	E353G	probably benign	Het
Banf2	A	G	2: 144,065,532	K42R	probably damaging	Het
Cabp7	T	A	11: 4,738,865	M202L	probably damaging	Het
Cage1	T	C	13: 38,023,257	E204G	probably damaging	Het
Caprin2	A	G	6: 148,869,002	V498A	probably benign	Het
Cfap161	A	G	7: 83,791,670	F150L	probably damaging	Het
Cyb5r1	G	A	1: 134,407,649	G141R	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,760,867		probably null	Het
Dnah9	T	C	11: 66,108,391	Q974R	probably null	Het
Eps8l3	G	A	3: 107,891,367	R523Q	probably benign	Het
Gga3	T	C	11: 115,590,891	K202R	probably damaging	Het
Gm11567	T	C	11: 99,879,310	W25R	unknown	Het
Gpr3	G	A	4: 133,210,677	A228V	probably damaging	Het
Krt10	T	C	11: 99,386,594	D426G	possibly damaging	Het
Krt24	T	A	11: 99,283,627	I205F	probably damaging	Het
Krt33a	T	C	11: 100,015,907	N81D	probably damaging	Het
Mapkbp1	T	C	2: 120,016,796	S505P	possibly damaging	Het
Matr3	A	G	18: 35,584,823	D696G	probably null	Het
Mov10	C	T	3: 104,804,583	G158S	probably benign	Het
Myh1	T	A	11: 67,211,370	M829K	probably benign	Het
Ncam2	T	C	16: 81,465,613	V318A	probably benign	Het
Ndufv3	A	G	17: 31,528,132	E332G	probably benign	Het
Ngdn	C	T	14: 55,017,121	T43M	probably benign	Het
Nop2	T	A	6: 125,140,822	D445E	probably damaging	Het
Olfr1141	A	T	2: 87,753,840	M51K	possibly damaging	Het
Olfr139	G	A	11: 74,044,534	H247Y	probably damaging	Het
Olfr1390	C	T	11: 49,341,180	S216F	probably benign	Het
Olfr52	A	T	2: 86,181,220	V297E	probably damaging	Het
Prl2b1	G	A	13: 27,383,618	A181V	probably benign	Het
Ptprg	T	A	14: 12,215,992	L1147Q	probably damaging	Het
Rubcn	T	C	16: 32,843,309	D319G	probably damaging	Het
Sfswap	G	A	5: 129,541,363	D454N	probably benign	Het
Slc38a6	G	T	12: 73,341,739	K242N	probably benign	Het
Tmigd3	A	G	3: 105,916,772	D19G	probably damaging	Het
Trim36	T	C	18: 46,175,655	E380G	probably benign	Het
Ttn	T	A	2: 76,794,632	I15201F	probably damaging	Het
Vmn2r12	A	G	5: 109,091,456	S414P	probably damaging	Het
Vmn2r82	A	T	10: 79,379,102	K306N	possibly damaging	Het
Wdfy4	A	T	14: 33,047,273	Y2232*	probably null	Het
Wdr53	A	G	16: 32,257,012	D345G	probably damaging	Het
Zfp26	G	A	9: 20,436,917	R784C	probably damaging	Het
Zfp58	A	T	13: 67,491,704	C223S	probably damaging	Het
Zfp618	A	G	4: 63,133,679	H899R		Het
Zfp963	A	G	8: 69,743,042	Y254H	probably benign	Het
Zfp994	T	C	17: 22,202,783	D17G	probably 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
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
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'- TGAGAAAGAAGGCTTCCTGTC -3'
(R):5'- ACTGCTTTGTCTCGCACACG -3'

Sequencing Primer
(F):5'- CAATTCTTTAAAGGGGGCTCAGAC -3'
(R):5'- ACACGTTCCTATCAGTGGGGAC -3'

Posted On

2022-08-09