Mutagenetix > Incidental Mutation

Incidental Mutation 'R9663:Ext1'

727715

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostoses (multiple) 1

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9663 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53064038-53346159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53345060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 102 (S102P)

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: S102P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: S102P

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: 98.6%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310050C09Rik	A	T	3: 92,868,976	N133K	probably benign	Het
Alkbh6	T	C	7: 30,313,946	S161P	probably damaging	Het
Alppl2	T	A	1: 87,088,031	H297L	probably benign	Het
Angptl2	A	G	2: 33,228,219	R2G	probably benign	Het
Arhgef15	T	A	11: 68,954,429	N199I	probably damaging	Het
Asns	A	T	6: 7,680,132	I328K	probably damaging	Het
Atad2	G	T	15: 58,108,144	T734K	probably benign	Het
Capn3	A	C	2: 120,486,378	M283L	probably benign	Het
Catsperd	T	A	17: 56,653,751	C384S	possibly damaging	Het
Cd101	A	G	3: 101,003,906	V816A	probably benign	Het
Cd5	T	G	19: 10,726,494	D68A	probably benign	Het
Ceacam18	G	A	7: 43,639,340	V172M	probably damaging	Het
Cfap100	G	A	6: 90,409,346	R276C		Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Creb3l2	A	G	6: 37,379,991	V47A	probably damaging	Het
Crebbp	T	A	16: 4,115,790	E1017D	probably damaging	Het
Cttn	T	C	7: 144,457,724	D116G	probably damaging	Het
Cyp2c65	A	G	19: 39,090,626		probably null	Het
Dcaf13	C	T	15: 39,118,783	T48I	possibly damaging	Het
Dsc2	T	A	18: 20,038,148	D598V	probably damaging	Het
Dtx3	G	A	10: 127,192,649	T237I	probably damaging	Het
E130308A19Rik	A	G	4: 59,719,764	E432G	possibly damaging	Het
Eps15	G	A	4: 109,322,073	V219I	probably benign	Het
Fam151a	A	T	4: 106,747,697	I419L	possibly damaging	Het
Fam89a	C	T	8: 124,751,697	G38D	probably damaging	Het
Fdx1l	G	T	9: 21,073,421	A29E	probably benign	Het
Gm597	G	T	1: 28,777,455	H499N	probably benign	Het
Hhla1	G	A	15: 65,941,781	T234I	probably damaging	Het
Hspb6	G	A	7: 30,554,289	V76M	probably damaging	Het
Ighmbp2	C	A	19: 3,265,325	K698N	probably benign	Het
Invs	A	G	4: 48,426,218	I1002V	probably damaging	Het
Itga8	A	C	2: 12,191,769	F612L	probably benign	Het
Kcnma1	G	T	14: 24,003,829	F99L	probably benign	Het
Klf11	A	G	12: 24,655,732	Y395C	probably damaging	Het
Lama4	G	A	10: 39,047,948	E451K	probably damaging	Het
Lrr1	A	G	12: 69,175,110	Y342C	probably damaging	Het
Lrrc18	A	T	14: 33,009,064	M187L	probably benign	Het
Luc7l3	A	G	11: 94,296,930	S311P	unknown	Het
Lypd3	T	A	7: 24,638,924	S133R	probably damaging	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mug1	A	T	6: 121,880,504	E1062D	probably benign	Het
Mug1	T	A	6: 121,882,740	S1233T	probably benign	Het
Myh7	T	C	14: 54,983,641	K942E	probably damaging	Het
Nedd9	T	C	13: 41,316,465	D404G	probably damaging	Het
Nisch	C	A	14: 31,173,668	A1022S	probably damaging	Het
Nkx3-1	A	G	14: 69,191,872	D113G	probably benign	Het
Olfr1378	T	C	11: 50,969,338	F107L	probably benign	Het
Olfr786	A	T	10: 129,437,060	I83F	probably damaging	Het
Olfr811	A	G	10: 129,801,628	F299S	probably benign	Het
Otub1	C	T	19: 7,199,448	G181D	probably damaging	Het
Palb2	T	C	7: 122,127,081	H522R	probably benign	Het
Pfpl	A	T	19: 12,430,095	D570V	probably damaging	Het
Phyhd1	A	G	2: 30,281,058	N271S	probably damaging	Het
Ptprm	T	C	17: 67,191,296	Q50R	probably benign	Het
Rfx2	C	A	17: 56,780,895	V499L	possibly damaging	Het
Sema5a	C	T	15: 32,673,400	Q795*	probably null	Het
Sf3a2	A	G	10: 80,801,475	N49S	probably damaging	Het
Sft2d1	T	G	17: 8,326,980	S156A	probably benign	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc25a33	T	A	4: 149,752,456	T144S	probably benign	Het
Slc7a13	A	T	4: 19,818,818	K6M	possibly damaging	Het
Tfap2c	G	A	2: 172,557,293	D487N	probably damaging	Het
Thbs1	G	A	2: 118,119,416	R624Q	probably damaging	Het
Thsd4	A	G	9: 59,982,743	F857S	probably damaging	Het
Tnfrsf4	A	G	4: 156,016,427	I272V	probably benign	Het
Trak1	C	T	9: 121,391,858	R45C	probably benign	Het
Trpm2	A	G	10: 77,920,486	S1167P	probably benign	Het
Ttc14	A	T	3: 33,801,388	T161S	probably benign	Het
Ttll1	A	G	15: 83,496,378	V262A	possibly damaging	Het
Ttn	C	T	2: 76,885,013	E7912K	unknown	Het
Ufsp1	C	A	5: 137,295,283	P165Q	possibly damaging	Het
Usp19	T	G	9: 108,494,695	L390R	probably damaging	Het
Vegfc	G	T	8: 54,181,303	C339F	probably damaging	Het
Vmn2r6	A	T	3: 64,556,128	N428K	possibly damaging	Het
Wdr11	T	G	7: 129,608,923	V517G	probably damaging	Het
Xkr4	T	A	1: 3,216,296	D557V	probably benign	Het
Zan	C	A	5: 137,380,857	C5327F	unknown	Het
Zfp770	A	T	2: 114,196,468	N373K	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
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
R9753:Ext1	UTSW	15	53344671	missense	probably damaging	1.00
X0021:Ext1	UTSW	15	53345273	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTATCCAGACTCAAGACAAAGAGGC -3'
(R):5'- TGCAGTTTAGGGCATCGAGG -3'

Sequencing Primer
(F):5'- TCAAGACAAAGAGGCACGCC -3'
(R):5'- TTTAGGGCATCGAGGAGCCAC -3'

Posted On

2022-10-06