Mutagenetix > Incidental Mutations

Incidental Mutation 'R4787:Extl1'

367162

Institutional Source

Beutler Lab

Gene Symbol

Extl1

Ensembl Gene

ENSMUSG00000028838

Gene Name

exostoses (multiple)-like 1

Synonyms

D430033M16Rik

MMRRC Submission

041975-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.516) question?

Stock #

R4787 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

134356372-134383850 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134364667 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 292 (L292F)

Ref Sequence

ENSEMBL: ENSMUSP00000030643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030643]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030643
AA Change: L292F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: L292F

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Exostosin	87	329	2.1e-38	PFAM
Pfam:Glyco_transf_64	412	652	1.7e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142730

Meta Mutation Damage Score

0.5051

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 72,445,164	Y138*	probably null	Het
4933440M02Rik	T	C	7: 125,331,542		noncoding transcript	Het
Amy2b	T	C	3: 113,151,318		noncoding transcript	Het
Anxa1	T	A	19: 20,373,754	D334V	probably damaging	Het
Atoh8	T	C	6: 72,223,777	T310A	possibly damaging	Het
BC002059	G	A	17: 16,973,548		noncoding transcript	Het
C87499	T	A	4: 88,629,213	K74*	probably null	Het
Ccdc40	A	G	11: 119,253,621	D924G	possibly damaging	Het
Ccm2l	A	T	2: 153,079,502	M433L	probably benign	Het
Cd209e	T	C	8: 3,851,181	S158G	probably null	Het
Cdkn2a	C	T	4: 89,276,718	R153H	unknown	Het
Cfap69	A	G	5: 5,646,934		probably null	Het
Col6a5	T	C	9: 105,931,081	T923A	unknown	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Ddrgk1	A	G	2: 130,658,328	F216S	probably damaging	Het
Dysf	T	A	6: 84,203,328	C1995*	probably null	Het
Epb41l5	G	A	1: 119,595,995	P467S	probably benign	Het
Fsd1	A	G	17: 55,996,257	N409D	possibly damaging	Het
Gm15455	A	T	1: 33,837,722		noncoding transcript	Het
Gm5514	C	A	19: 21,938,237		noncoding transcript	Het
Gm8894	A	G	14: 55,420,715		noncoding transcript	Het
Gm8979	T	C	7: 106,081,834		noncoding transcript	Het
Gtf3c2	C	T	5: 31,157,577	S942N	probably benign	Het
H2-Ab1	A	T	17: 34,267,467	T167S	possibly damaging	Het
Ighv8-9	C	T	12: 115,468,514	R59H	probably damaging	Het
Igsf9b	G	A	9: 27,317,456	V171I	probably benign	Het
Il31ra	C	T	13: 112,527,545	E533K	possibly damaging	Het
Iqgap1	A	C	7: 80,735,513	L1022R	probably damaging	Het
Kcna4	T	C	2: 107,296,468	F516L	probably damaging	Het
Kmt2e	A	G	5: 23,463,083	T47A	possibly damaging	Het
L3mbtl2	A	G	15: 81,663,974		probably benign	Het
Lipo1	T	A	19: 33,780,349	Q240L	probably benign	Het
Lpar5	A	G	6: 125,082,498		probably null	Het
Lrrk2	A	G	15: 91,712,828	D541G	probably benign	Het
Med9	T	A	11: 59,948,440	N58K	probably benign	Het
Meig1	A	G	2: 3,409,214	V83A	possibly damaging	Het
Natd1	A	C	11: 60,906,996	C34W	probably damaging	Het
Nup205	T	A	6: 35,202,061	C689S	probably damaging	Het
Olfr1161	T	C	2: 88,024,860	M46T	possibly damaging	Het
Olfr1199	T	A	2: 88,755,875	K267*	probably null	Het
Olfr2	G	A	7: 107,001,086	A258V	probably benign	Het
Olfr654	T	C	7: 104,587,960	M52T	probably benign	Het
Pdgfrb	A	C	18: 61,079,687	S888R	probably damaging	Het
Plppr4	T	C	3: 117,322,330	E626G	probably damaging	Het
Ppfia3	C	A	7: 45,340,626	A1159S	possibly damaging	Het
Prex1	A	G	2: 166,638,340	V160A	probably benign	Het
Psmb7	C	T	2: 38,588,271	C247Y	probably benign	Het
Rbm33	C	T	5: 28,342,437		probably null	Het
Rfc5	T	C	5: 117,382,420	T236A	probably benign	Het
Sdk1	G	T	5: 141,582,413	R122L	probably benign	Het
Sh3bp1	T	C	15: 78,907,995	S451P	possibly damaging	Het
Smap1	G	T	1: 23,849,266		probably benign	Het
Smc2	T	A	4: 52,462,927	V639E	probably damaging	Het
Synpo2l	T	A	14: 20,661,697	Q511L	possibly damaging	Het
Taok2	G	A	7: 126,868,132	S167L	possibly damaging	Het
Tbc1d17	G	A	7: 44,843,064	P392S	probably benign	Het
Tef	T	A	15: 81,823,557	I261N	probably damaging	Het
Tmbim1	T	C	1: 74,295,360	N14D	possibly damaging	Het
Tmprss11c	T	C	5: 86,256,453	K121R	probably benign	Het
Trim36	C	A	18: 46,172,532	M461I	probably benign	Het
Trpc1	T	A	9: 95,721,415	M355L	probably benign	Het
Tspyl4	A	C	10: 34,297,764	D84A	probably benign	Het
Twf1	G	T	15: 94,584,434	P144T	probably damaging	Het
Ugt1a7c	T	C	1: 88,095,670	C184R	probably damaging	Het
Unc79	C	T	12: 103,046,998	P283S	probably damaging	Het
Usp45	T	C	4: 21,796,860	C49R	probably benign	Het
Wdr11	T	A	7: 129,608,934		probably benign	Het
Wdr27	A	T	17: 14,932,554	M97K	possibly damaging	Het

Other mutations in Extl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Extl1	APN	4	134358019	missense	probably damaging	1.00
IGL01404:Extl1	APN	4	134359203	missense	probably benign	0.06
IGL03040:Extl1	APN	4	134360629	splice site	probably benign
R0165:Extl1	UTSW	4	134357703	missense	probably damaging	1.00
R0566:Extl1	UTSW	4	134357677	unclassified	probably benign
R0575:Extl1	UTSW	4	134357677	unclassified	probably benign
R0941:Extl1	UTSW	4	134357677	unclassified	probably benign
R0943:Extl1	UTSW	4	134357677	unclassified	probably benign
R0988:Extl1	UTSW	4	134357677	unclassified	probably benign
R0989:Extl1	UTSW	4	134357677	unclassified	probably benign
R0990:Extl1	UTSW	4	134357677	unclassified	probably benign
R1022:Extl1	UTSW	4	134357677	unclassified	probably benign
R1035:Extl1	UTSW	4	134357677	unclassified	probably benign
R1344:Extl1	UTSW	4	134359241	missense	probably damaging	0.99
R1495:Extl1	UTSW	4	134357677	unclassified	probably benign
R1699:Extl1	UTSW	4	134364583	nonsense	probably null
R1750:Extl1	UTSW	4	134362688	missense	probably benign	0.00
R1768:Extl1	UTSW	4	134371138	missense	probably benign
R1883:Extl1	UTSW	4	134364606	missense	probably benign	0.01
R2143:Extl1	UTSW	4	134371044	missense	probably benign	0.31
R2144:Extl1	UTSW	4	134371044	missense	probably benign	0.31
R2155:Extl1	UTSW	4	134363180	missense	possibly damaging	0.71
R4298:Extl1	UTSW	4	134357658	missense	probably damaging	1.00
R4605:Extl1	UTSW	4	134359834	missense	probably benign	0.00
R4606:Extl1	UTSW	4	134371379	missense	probably damaging	0.99
R4606:Extl1	UTSW	4	134371380	missense	probably benign	0.00
R5210:Extl1	UTSW	4	134360584	missense	probably benign	0.02
R5776:Extl1	UTSW	4	134357772	missense	possibly damaging	0.82
R6216:Extl1	UTSW	4	134363130	missense	probably benign
R6392:Extl1	UTSW	4	134364634	missense	probably benign	0.44
R6674:Extl1	UTSW	4	134358127	missense	probably damaging	0.97
R7218:Extl1	UTSW	4	134359769	missense	probably benign	0.14
R7779:Extl1	UTSW	4	134357703	missense	probably damaging	1.00
R7779:Extl1	UTSW	4	134360597	missense	probably benign	0.25
R7795:Extl1	UTSW	4	134364679	missense	probably damaging	1.00
R7800:Extl1	UTSW	4	134371618	missense	probably benign	0.10
X0020:Extl1	UTSW	4	134358021	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- ACATCTATGACTGCCCTAGAGG -3'
(R):5'- GATATTCCCCAGCCTCAGTACC -3'

Sequencing Primer
(F):5'- CCTAGAGGGAAGCAATAGGTATAAG -3'
(R):5'- GCACTGGCAGGAGATTCTG -3'

Posted On

2015-12-29