Mutagenetix > Incidental Mutation

Incidental Mutation 'R8888:Ext1'

677517

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostoses (multiple) 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8888 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53064038-53346159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53092327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 458 (Y458C)

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: Y458C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: Y458C

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	T	C	5: 24,550,630	D298G	probably benign	Het
5830411N06Rik	C	T	7: 140,261,619	P279S	possibly damaging	Het
Akr1a1	A	G	4: 116,641,063	L95P	probably damaging	Het
Amigo2	G	T	15: 97,245,508	N344K	probably damaging	Het
Ankrd11	T	C	8: 122,894,275	D946G	possibly damaging	Het
Ankrd12	T	C	17: 66,031,573		probably null	Het
Atp8b5	A	G	4: 43,304,687	N66S		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Birc6	G	A	17: 74,528,538	S24N	probably null	Het
Bzw2	A	T	12: 36,123,983	C97*	probably null	Het
C530008M17Rik	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 76,856,954		probably benign	Het
Capn12	T	A	7: 28,886,524		probably benign	Het
Cdh1	T	A	8: 106,604,339	F34Y	probably damaging	Het
Cdh5	T	C	8: 104,125,460	I69T	possibly damaging	Het
Celsr2	G	A	3: 108,413,564	T644I	possibly damaging	Het
Cep85l	A	T	10: 53,348,815	L226Q	possibly damaging	Het
Clasp2	T	A	9: 113,903,868	M924K	possibly damaging	Het
Col3a1	G	A	1: 45,339,979	A850T	unknown	Het
Cped1	C	T	6: 22,016,963	P104S	possibly damaging	Het
Cyp2c69	T	C	19: 39,881,466	D104G	possibly damaging	Het
Daw1	T	A	1: 83,209,290	C274S	probably damaging	Het
Dmtn	T	C	14: 70,612,704	T267A	probably benign	Het
Dock5	A	G	14: 67,817,663	Y585H	possibly damaging	Het
Dopey1	A	G	9: 86,521,534	I132V	probably benign	Het
Dpysl5	C	T	5: 30,745,343	R40C	probably benign	Het
Dsg2	T	G	18: 20,590,069	V384G	probably damaging	Het
Elmo1	C	T	13: 20,564,460	L492F	probably damaging	Het
Epg5	C	A	18: 78,012,871	D1753E	possibly damaging	Het
Folr2	C	T	7: 101,840,201	V244M	unknown	Het
Frmd6	C	A	12: 70,893,872	H430Q	possibly damaging	Het
Galnt18	T	C	7: 111,779,502	I16V	possibly damaging	Het
Gm10036	C	A	18: 15,833,150	Y119*	probably null	Het
Gm853	T	C	4: 130,211,430	K316E	probably benign	Het
Gm884	T	A	11: 103,618,830	T771S	unknown	Het
Gria4	A	G	9: 4,664,951	S102P	probably damaging	Het
Hc	A	T	2: 35,000,849	N1318K	probably benign	Het
Htr2a	C	T	14: 74,645,177	T201I	possibly damaging	Het
Ifitm1	T	C	7: 140,969,586	L94P	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kank4	C	T	4: 98,765,510	V894I	possibly damaging	Het
Kcnip2	T	A	19: 45,796,661		probably benign	Het
Klhl29	A	T	12: 5,137,542	L274H	possibly damaging	Het
Lamb1	A	G	12: 31,302,954	T885A	possibly damaging	Het
Lipi	A	T	16: 75,555,822	L376I	probably benign	Het
Malrd1	A	T	2: 15,845,227	N1219I	unknown	Het
Mrc1	A	C	2: 14,307,949	N894T	probably damaging	Het
Mrpl35	C	T	6: 71,816,287	A127T	possibly damaging	Het
Naip2	T	C	13: 100,189,136	H88R	probably benign	Het
Nek5	C	T	8: 22,090,479		probably null	Het
Nlrc5	G	A	8: 94,525,490	V1880I	probably benign	Het
Noc3l	T	A	19: 38,810,307	K282N	probably damaging	Het
Nwd2	T	C	5: 63,805,898	Y942H	probably damaging	Het
Olfr1123	T	C	2: 87,418,315	V87A	probably benign	Het
Olfr1318	G	A	2: 112,156,629	R226H	probably benign	Het
Olfr646	T	A	7: 104,107,095	I272N	probably damaging	Het
Osbpl9	C	A	4: 109,073,136	A221S	probably benign	Het
Paip1	T	C	13: 119,430,265	L45S	probably benign	Het
Pccb	A	T	9: 101,023,252		probably benign	Het
Pgap3	A	G	11: 98,390,776	F199L	possibly damaging	Het
Pik3c2g	A	T	6: 139,730,366	K79*	probably null	Het
Pou3f1	C	G	4: 124,658,359	A218G	possibly damaging	Het
Ptk2b	T	A	14: 66,174,793	N383I	probably benign	Het
Rad52	C	T	6: 119,913,080	R56C	probably damaging	Het
Rdh7	A	T	10: 127,888,561	F18Y	probably benign	Het
Sept5	A	G	16: 18,623,111	M315T	possibly damaging	Het
Slc27a6	A	G	18: 58,582,234	Y303C	probably damaging	Het
Slc7a7	T	A	14: 54,369,836	M495L	probably benign	Het
Sntg1	T	A	1: 8,677,850		probably null	Het
Spdye4a	T	G	5: 143,225,663	S49R	probably benign	Het
Spred2	T	A	11: 20,001,019	I72N	probably benign	Het
Stox1	A	T	10: 62,659,607	H962Q	probably benign	Het
Susd2	G	T	10: 75,639,618	A484D	possibly damaging	Het
Syt14	A	G	1: 192,897,558	S473P	probably damaging	Het
Tpx2	T	C	2: 152,882,335	Y344H	probably damaging	Het
Ttc17	T	C	2: 94,326,704	N411S	probably benign	Het
Ttf2	A	T	3: 100,962,712	F348L	probably benign	Het
Ttn	A	T	2: 76,833,306	V11675E	unknown	Het
Usp2	G	T	9: 44,075,597	R64L	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
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
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'- ACAGGATAGCTGCTCAGATGAG -3'
(R):5'- TGTGCGATGTCTTTTCAACATC -3'

Sequencing Primer
(F):5'- TGAGAAAGAAGGCTTCCTGTC -3'
(R):5'- GCGATGTCTTTTCAACATCATCATTC -3'

Posted On

2021-08-02