Mutagenetix > Incidental Mutation

Incidental Mutation 'R4787:Extl1'

367162

Institutional Source

Beutler Lab

Gene Symbol

Extl1

Ensembl Gene

ENSMUSG00000028838

Gene Name

exostosin-like glycosyltransferase 1

Synonyms

D430033M16Rik

MMRRC Submission

041975-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R4787 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

134083684-134099893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134091978 bp (GRCm39)

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]

AlphaFold

Q9JKV7

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: 73,199,008 (GRCm39)	Y138*	probably null	Het
4933440M02Rik	T	C	7: 124,930,714 (GRCm39)		noncoding transcript	Het
Amy2b	T	C	3: 113,058,634 (GRCm39)		noncoding transcript	Het
Anxa1	T	A	19: 20,351,118 (GRCm39)	D334V	probably damaging	Het
Atoh8	T	C	6: 72,200,761 (GRCm39)	T310A	possibly damaging	Het
BC002059	G	A	17: 17,193,810 (GRCm39)		noncoding transcript	Het
Ccdc40	A	G	11: 119,144,447 (GRCm39)	D924G	possibly damaging	Het
Ccm2l	A	T	2: 152,921,422 (GRCm39)	M433L	probably benign	Het
Cd209e	T	C	8: 3,901,181 (GRCm39)	S158G	probably null	Het
Cdkn2a	C	T	4: 89,194,955 (GRCm39)	R153H	unknown	Het
Cfap69	A	G	5: 5,696,934 (GRCm39)		probably null	Het
Col6a5	T	C	9: 105,808,280 (GRCm39)	T923A	unknown	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Ddrgk1	A	G	2: 130,500,248 (GRCm39)	F216S	probably damaging	Het
Dysf	T	A	6: 84,180,310 (GRCm39)	C1995*	probably null	Het
Epb41l5	G	A	1: 119,523,725 (GRCm39)	P467S	probably benign	Het
Fsd1	A	G	17: 56,303,257 (GRCm39)	N409D	possibly damaging	Het
Gm15455	A	T	1: 33,876,803 (GRCm39)		noncoding transcript	Het
Gm8894	A	G	14: 55,658,172 (GRCm39)		noncoding transcript	Het
Gtf3c2	C	T	5: 31,314,921 (GRCm39)	S942N	probably benign	Het
Gvin-ps3	T	C	7: 105,681,041 (GRCm39)		noncoding transcript	Het
H2-Ab1	A	T	17: 34,486,441 (GRCm39)	T167S	possibly damaging	Het
Ighv8-9	C	T	12: 115,432,134 (GRCm39)	R59H	probably damaging	Het
Igsf9b	G	A	9: 27,228,752 (GRCm39)	V171I	probably benign	Het
Il31ra	C	T	13: 112,664,079 (GRCm39)	E533K	possibly damaging	Het
Iqgap1	A	C	7: 80,385,261 (GRCm39)	L1022R	probably damaging	Het
Kcna4	T	C	2: 107,126,813 (GRCm39)	F516L	probably damaging	Het
Kmt2e	A	G	5: 23,668,081 (GRCm39)	T47A	possibly damaging	Het
L3mbtl2	A	G	15: 81,548,175 (GRCm39)		probably benign	Het
Ldhb-ps	C	A	19: 21,915,601 (GRCm39)		noncoding transcript	Het
Lipo3	T	A	19: 33,757,749 (GRCm39)	Q240L	probably benign	Het
Lpar5	A	G	6: 125,059,461 (GRCm39)		probably null	Het
Lrrk2	A	G	15: 91,597,031 (GRCm39)	D541G	probably benign	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Meig1	A	G	2: 3,410,251 (GRCm39)	V83A	possibly damaging	Het
Natd1	A	C	11: 60,797,822 (GRCm39)	C34W	probably damaging	Het
Nup205	T	A	6: 35,178,996 (GRCm39)	C689S	probably damaging	Het
Or4c104	T	A	2: 88,586,219 (GRCm39)	K267*	probably null	Het
Or52u1	T	C	7: 104,237,167 (GRCm39)	M52T	probably benign	Het
Or5d35	T	C	2: 87,855,204 (GRCm39)	M46T	possibly damaging	Het
Or6a2	G	A	7: 106,600,293 (GRCm39)	A258V	probably benign	Het
Pdgfrb	A	C	18: 61,212,759 (GRCm39)	S888R	probably damaging	Het
Plppr4	T	C	3: 117,115,979 (GRCm39)	E626G	probably damaging	Het
Ppfia3	C	A	7: 44,990,050 (GRCm39)	A1159S	possibly damaging	Het
Pramel32	T	A	4: 88,547,450 (GRCm39)	K74*	probably null	Het
Prex1	A	G	2: 166,480,260 (GRCm39)	V160A	probably benign	Het
Psmb7	C	T	2: 38,478,283 (GRCm39)	C247Y	probably benign	Het
Rbm33	C	T	5: 28,547,435 (GRCm39)		probably null	Het
Rfc5	T	C	5: 117,520,485 (GRCm39)	T236A	probably benign	Het
Sdk1	G	T	5: 141,568,168 (GRCm39)	R122L	probably benign	Het
Sh3bp1	T	C	15: 78,792,195 (GRCm39)	S451P	possibly damaging	Het
Smap1	G	T	1: 23,888,347 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,927 (GRCm39)	V639E	probably damaging	Het
Synpo2l	T	A	14: 20,711,765 (GRCm39)	Q511L	possibly damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Tbc1d17	G	A	7: 44,492,488 (GRCm39)	P392S	probably benign	Het
Tef	T	A	15: 81,707,758 (GRCm39)	I261N	probably damaging	Het
Tmbim1	T	C	1: 74,334,519 (GRCm39)	N14D	possibly damaging	Het
Tmprss11c	T	C	5: 86,404,312 (GRCm39)	K121R	probably benign	Het
Trim36	C	A	18: 46,305,599 (GRCm39)	M461I	probably benign	Het
Trpc1	T	A	9: 95,603,468 (GRCm39)	M355L	probably benign	Het
Tspyl4	A	C	10: 34,173,760 (GRCm39)	D84A	probably benign	Het
Twf1	G	T	15: 94,482,315 (GRCm39)	P144T	probably damaging	Het
Ugt1a7c	T	C	1: 88,023,392 (GRCm39)	C184R	probably damaging	Het
Unc79	C	T	12: 103,013,257 (GRCm39)	P283S	probably damaging	Het
Usp45	T	C	4: 21,796,860 (GRCm39)	C49R	probably benign	Het
Wdr11	T	A	7: 129,210,658 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,152,816 (GRCm39)	M97K	possibly damaging	Het

Other mutations in Extl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Extl1	APN	4	134,085,330 (GRCm39)	missense	probably damaging	1.00
IGL01404:Extl1	APN	4	134,086,514 (GRCm39)	missense	probably benign	0.06
IGL03040:Extl1	APN	4	134,087,940 (GRCm39)	splice site	probably benign
R0165:Extl1	UTSW	4	134,085,014 (GRCm39)	missense	probably damaging	1.00
R0566:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0575:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0941:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0943:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0988:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0989:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0990:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R1022:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R1035:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R1344:Extl1	UTSW	4	134,086,552 (GRCm39)	missense	probably damaging	0.99
R1495:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R1699:Extl1	UTSW	4	134,091,894 (GRCm39)	nonsense	probably null
R1750:Extl1	UTSW	4	134,089,999 (GRCm39)	missense	probably benign	0.00
R1768:Extl1	UTSW	4	134,098,449 (GRCm39)	missense	probably benign
R1883:Extl1	UTSW	4	134,091,917 (GRCm39)	missense	probably benign	0.01
R2143:Extl1	UTSW	4	134,098,355 (GRCm39)	missense	probably benign	0.31
R2144:Extl1	UTSW	4	134,098,355 (GRCm39)	missense	probably benign	0.31
R2155:Extl1	UTSW	4	134,090,491 (GRCm39)	missense	possibly damaging	0.71
R4298:Extl1	UTSW	4	134,084,969 (GRCm39)	missense	probably damaging	1.00
R4605:Extl1	UTSW	4	134,087,145 (GRCm39)	missense	probably benign	0.00
R4606:Extl1	UTSW	4	134,098,691 (GRCm39)	missense	probably benign	0.00
R4606:Extl1	UTSW	4	134,098,690 (GRCm39)	missense	probably damaging	0.99
R5210:Extl1	UTSW	4	134,087,895 (GRCm39)	missense	probably benign	0.02
R5776:Extl1	UTSW	4	134,085,083 (GRCm39)	missense	possibly damaging	0.82
R6216:Extl1	UTSW	4	134,090,441 (GRCm39)	missense	probably benign
R6392:Extl1	UTSW	4	134,091,945 (GRCm39)	missense	probably benign	0.44
R6674:Extl1	UTSW	4	134,085,438 (GRCm39)	missense	probably damaging	0.97
R7218:Extl1	UTSW	4	134,087,080 (GRCm39)	missense	probably benign	0.14
R7779:Extl1	UTSW	4	134,087,908 (GRCm39)	missense	probably benign	0.25
R7779:Extl1	UTSW	4	134,085,014 (GRCm39)	missense	probably damaging	1.00
R7795:Extl1	UTSW	4	134,091,990 (GRCm39)	missense	probably damaging	1.00
R7800:Extl1	UTSW	4	134,098,929 (GRCm39)	missense	probably benign	0.10
R8472:Extl1	UTSW	4	134,098,603 (GRCm39)	missense	probably benign
R8977:Extl1	UTSW	4	134,086,435 (GRCm39)	missense	possibly damaging	0.95
R9079:Extl1	UTSW	4	134,089,975 (GRCm39)	missense	probably damaging	1.00
X0020:Extl1	UTSW	4	134,085,332 (GRCm39)	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