Mutagenetix > Incidental Mutation

Incidental Mutation 'R4871:Ext1'

376616

Institutional Source

Beutler Lab

Gene Symbol

Ext1

Ensembl Gene

ENSMUSG00000061731

Gene Name

exostoses (multiple) 1

Synonyms

MMRRC Submission

042481-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4871 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53064038-53346159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 53092377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 441 (N441K)

Ref Sequence

ENSEMBL: ENSMUSP00000076505 (fasta)

Gene Model

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

AlphaFold

P97464

Predicted Effect

probably benign
Transcript: ENSMUST00000077273
AA Change: N441K

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: N441K

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

Meta Mutation Damage Score

0.0698

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

93% (99/107)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,480,093	T270A	probably null	Het
Adgrv1	A	T	13: 81,533,122		probably benign	Het
Aldh1b1	A	T	4: 45,803,383	D307V	probably benign	Het
Aldh3a2	A	T	11: 61,262,239	C220*	probably null	Het
Ank2	T	C	3: 126,959,795	Y279C	probably damaging	Het
Anks1	T	C	17: 27,991,377	Y444H	probably benign	Het
Asph	G	T	4: 9,531,968	T383K	probably benign	Het
Asphd1	G	T	7: 126,948,575	S185R	possibly damaging	Het
Bcl2a1d	T	A	9: 88,731,695	I9F	probably damaging	Het
Bcl2l11	T	C	2: 128,129,041		probably benign	Het
C2cd3	T	G	7: 100,413,374	S656A	possibly damaging	Het
Cd5l	T	C	3: 87,367,622	V156A	probably damaging	Het
Cdh8	G	C	8: 99,030,904	N687K	probably damaging	Het
Cdk19	A	G	10: 40,476,236	D338G	probably benign	Het
Cenpf	A	G	1: 189,658,531	C1035R	probably damaging	Het
Cep290	A	G	10: 100,548,914	R1845G	probably benign	Het
Cep295nl	G	T	11: 118,333,824	Q65K	probably damaging	Het
Ciz1	T	C	2: 32,372,288		probably benign	Het
Clasrp	T	C	7: 19,590,248	D234G	possibly damaging	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Ddr2	A	G	1: 170,004,771	V150A	probably benign	Het
Dnah7b	T	C	1: 46,081,444	S74P	probably benign	Het
Dnttip2	C	A	3: 122,285,101	A743E	probably damaging	Het
Dysf	A	T	6: 84,067,023	Q281L	possibly damaging	Het
Ece2	A	G	16: 20,644,155	E610G	probably damaging	Het
Edem3	T	G	1: 151,804,231		probably null	Het
Fam118a	A	G	15: 85,058,768	R333G	probably damaging	Het
Fam45a	A	G	19: 60,830,814	E120G	probably damaging	Het
Fat4	C	T	3: 38,891,605	T1549I	probably damaging	Het
Fbxo4	A	G	15: 3,975,912	V162A	probably damaging	Het
Fgd2	A	G	17: 29,373,249	H385R	possibly damaging	Het
Garnl3	A	T	2: 33,087,088	M1K	probably null	Het
Gm37267	T	G	1: 180,510,518		noncoding transcript	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gpbar1	C	T	1: 74,279,543	A315V	probably damaging	Het
Grm2	T	C	9: 106,647,645	I624V	probably benign	Het
Hmcn1	T	C	1: 150,593,085	I5042V	probably benign	Het
Hnf4g	T	C	3: 3,651,388	Y291H	possibly damaging	Het
Ighm	A	G	12: 113,421,621	S240P	unknown	Het
Igkv4-91	A	G	6: 68,768,620	I98T	probably damaging	Het
Krt72	T	C	15: 101,786,034	N142S	probably damaging	Het
Kynu	T	A	2: 43,679,818	Y371N	possibly damaging	Het
Ly9	G	T	1: 171,607,330		probably benign	Het
Man1a2	C	A	3: 100,617,056	V359F	probably damaging	Het
Mast1	T	C	8: 84,920,658	I623M	probably damaging	Het
Mb	A	G	15: 77,022,487		probably null	Het
Mcm4	A	C	16: 15,634,510	L113*	probably null	Het
Mcub	C	T	3: 129,917,036	W249*	probably null	Het
Mme	T	A	3: 63,340,032	V246E	probably benign	Het
Mrpl38	A	G	11: 116,134,272	Y232H	probably damaging	Het
Myh7b	T	A	2: 155,613,500	M89K	probably benign	Het
Notch4	A	G	17: 34,577,562	S892G	possibly damaging	Het
Nt5dc3	A	G	10: 86,817,077	Y245C	probably damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026		probably benign	Het
Olfr101	T	A	17: 37,300,204	T73S	probably benign	Het
Olfr1024	T	A	2: 85,904,371	I228F	probably benign	Het
Olfr104-ps	A	T	17: 37,362,446	I107L	probably benign	Het
Olfr1066	A	T	2: 86,455,809	I154N	possibly damaging	Het
Olfr305	A	T	7: 86,363,484	N284K	probably damaging	Het
Olfr883	G	T	9: 38,026,526	C240F	probably damaging	Het
Palld	A	T	8: 61,549,781		probably benign	Het
Pcdhga10	T	C	18: 37,748,200	V338A	probably damaging	Het
Pcdhga11	A	G	18: 37,757,406	Y489C	probably damaging	Het
Pgm1	T	C	5: 64,103,894	Y244H	probably benign	Het
Phactr4	A	T	4: 132,378,448	S102R	probably damaging	Het
Plekha5	A	G	6: 140,525,910	Y20C	probably damaging	Het
Rdh19	A	G	10: 127,860,144	D255G	probably benign	Het
Rgs3	T	C	4: 62,631,295	V438A	probably benign	Het
Rnf186	A	G	4: 138,967,943	T265A	probably benign	Het
Ror1	T	C	4: 100,425,998	F420S	probably benign	Het
Rtkn2	A	G	10: 68,005,633	K204E	probably damaging	Het
Rundc1	A	G	11: 101,434,048	T527A	probably benign	Het
Samd4	T	C	14: 47,066,463	S301P	probably damaging	Het
Scaf1	G	A	7: 45,005,879		probably benign	Het
Srgap2	A	G	1: 131,289,472	V1034A	probably benign	Het
Stab2	T	C	10: 86,942,235	D743G	probably damaging	Het
Stim1	A	T	7: 102,354,572	I71F	probably damaging	Het
Stk17b	T	C	1: 53,757,534	D358G	probably benign	Het
Sun2	A	G	15: 79,727,564	Y551H	probably damaging	Het
Tas2r110	A	T	6: 132,868,128	T41S	probably benign	Het
Tead3	T	A	17: 28,333,615	E268V	probably damaging	Het
Tead3	A	G	17: 28,334,988	S131P	probably benign	Het
Tepsin	A	T	11: 120,091,525	M505K	possibly damaging	Het
Trbv29	A	G	6: 41,271,734	Y66C	possibly damaging	Het
Ttc6	A	G	12: 57,702,356	Q1358R	probably damaging	Het
Ttll2	C	T	17: 7,351,599	V310I	probably benign	Het
Uaca	T	C	9: 60,846,001	V76A	probably damaging	Het
Vwf	A	T	6: 125,686,462	T2789S	probably benign	Het
Yipf4	T	C	17: 74,494,094	F136L	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfp804b	A	T	5: 6,876,479	D51E	probably damaging	Het
Zfyve9	C	T	4: 108,680,986	G969R	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
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
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'- ACGTTCCTATCAGTGGGGAC -3'

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

Posted On

2016-03-17