Mutagenetix > Incidental Mutation

Incidental Mutation 'R1395:Extl3'

162831

Institutional Source

Beutler Lab

Gene Symbol

Extl3

Ensembl Gene

ENSMUSG00000021978

Gene Name

exostosin-like glycosyltransferase 3

Synonyms

2900009G18Rik

MMRRC Submission

039457-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1395 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

65289509-65387304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65314945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 79 (V79A)

Ref Sequence

ENSEMBL: ENSMUSP00000153547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022550] [ENSMUST00000225633]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022550
AA Change: V79A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: V79A

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
coiled coil region	81	150	N/A	INTRINSIC
Pfam:Exostosin	190	500	1.6e-60	PFAM
Pfam:Glyco_transf_64	663	904	1.3e-101	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223989

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225633
AA Change: V79A

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.1418

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis and lack heparan sulfate derived disaccharides. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,249,362 (GRCm39)	Y122H	probably damaging	Het
A330070K13Rik	A	G	5: 130,407,982 (GRCm39)		probably benign	Het
Abcc2	A	G	19: 43,822,379 (GRCm39)	R1406G	probably benign	Het
Adgrv1	G	T	13: 81,534,907 (GRCm39)	T5786K	probably benign	Het
Ankrd27	T	C	7: 35,315,294 (GRCm39)	F481S	possibly damaging	Het
Arhgap11a	C	T	2: 113,663,467 (GRCm39)	V939I	probably benign	Het
Arhgap12	T	C	18: 6,037,058 (GRCm39)	N561S	probably benign	Het
Arhgef12	T	C	9: 42,917,166 (GRCm39)	H391R	probably damaging	Het
Asb3	T	C	11: 31,051,032 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 143,007,464 (GRCm39)		probably benign	Het
Ccdc85a	T	C	11: 28,533,412 (GRCm39)	K44R	possibly damaging	Het
Cep128	C	T	12: 91,233,754 (GRCm39)	R438Q	probably benign	Het
Cep192	A	G	18: 67,991,992 (GRCm39)	T1957A	probably damaging	Het
Col20a1	T	A	2: 180,640,400 (GRCm39)	V519E	probably damaging	Het
Cylc2	A	G	4: 51,228,366 (GRCm39)	K146E	possibly damaging	Het
Drgx	C	T	14: 32,330,326 (GRCm39)	P148S	probably benign	Het
Dst	T	C	1: 34,204,236 (GRCm39)		probably null	Het
Eef1a1	C	T	9: 78,386,300 (GRCm39)	V402I	probably benign	Het
Esyt3	T	C	9: 99,198,835 (GRCm39)		probably benign	Het
Fat3	C	T	9: 16,158,212 (GRCm39)	V1133I	probably benign	Het
Fcgbp	A	G	7: 27,792,804 (GRCm39)	H936R	probably damaging	Het
Fdxacb1	TAGAC	T	9: 50,683,796 (GRCm39)		probably null	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gm44511	G	A	6: 128,797,293 (GRCm39)	S32L	possibly damaging	Het
Gm8374	G	T	14: 18,537,058 (GRCm39)	N55K	probably benign	Het
Gria1	T	A	11: 57,174,392 (GRCm39)	I558N	probably damaging	Het
Gse1	G	T	8: 121,301,738 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hectd4	T	C	5: 121,466,576 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,346,463 (GRCm39)	I1943T	probably benign	Het
Ift172	T	C	5: 31,442,582 (GRCm39)		probably benign	Het
Ift81	G	T	5: 122,706,986 (GRCm39)	D485E	probably benign	Het
Lactb	T	C	9: 66,878,661 (GRCm39)		probably benign	Het
Map1a	C	T	2: 121,134,406 (GRCm39)	H1741Y	probably benign	Het
Map1lc3b	T	C	8: 122,323,459 (GRCm39)	Y110H	probably benign	Het
Mlh1	T	C	9: 111,076,445 (GRCm39)	D304G	probably damaging	Het
Myo1f	A	G	17: 33,802,714 (GRCm39)	D386G	probably damaging	Het
Ncoa4	T	A	14: 31,894,798 (GRCm39)		probably null	Het
Neto1	T	C	18: 86,416,144 (GRCm39)		probably benign	Het
Nf1	T	C	11: 79,426,809 (GRCm39)	V1741A	possibly damaging	Het
Nkain2	C	A	10: 32,766,185 (GRCm39)		probably benign	Het
Obsl1	T	C	1: 75,469,309 (GRCm39)	S109G	probably damaging	Het
Or51ah3	T	C	7: 103,210,326 (GRCm39)	L214P	possibly damaging	Het
Or51f23	G	A	7: 102,453,414 (GRCm39)	C243Y	possibly damaging	Het
Or6z6	T	A	7: 6,491,361 (GRCm39)	T171S	probably damaging	Het
Or9s13	T	A	1: 92,548,267 (GRCm39)	I213N	probably benign	Het
Phlpp1	T	C	1: 106,278,348 (GRCm39)	V920A	possibly damaging	Het
Psen1	G	A	12: 83,771,346 (GRCm39)	G209R	probably damaging	Het
Ralgapa2	T	G	2: 146,230,420 (GRCm39)	K963N	probably damaging	Het
Rdh12	A	G	12: 79,255,839 (GRCm39)	T9A	probably benign	Het
Rgma	G	T	7: 73,067,542 (GRCm39)	A360S	probably benign	Het
Sag	G	A	1: 87,756,163 (GRCm39)	V257I	probably benign	Het
Scaf1	T	C	7: 44,657,721 (GRCm39)	E386G	probably damaging	Het
Slc4a10	A	G	2: 62,143,630 (GRCm39)	E1055G	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spata31e5	T	C	1: 28,815,890 (GRCm39)	E714G	possibly damaging	Het
Spata46	A	G	1: 170,139,573 (GRCm39)	T191A	probably benign	Het
Tgm2	T	A	2: 157,966,172 (GRCm39)	H494L	probably benign	Het
Tub	C	T	7: 108,620,161 (GRCm39)	R102*	probably null	Het
Ugt3a1	T	G	15: 9,306,378 (GRCm39)	L176V	possibly damaging	Het
Vmn2r15	T	A	5: 109,442,014 (GRCm39)	I140L	probably benign	Het
Wdr44	T	G	X: 23,662,298 (GRCm39)	C645G	probably damaging	Het
Wdr87-ps	T	A	7: 29,230,812 (GRCm39)		noncoding transcript	Het
Zfp322a	C	T	13: 23,540,945 (GRCm39)	V266I	probably benign	Het
Zfp663	T	C	2: 165,194,492 (GRCm39)	R576G	probably damaging	Het

Other mutations in Extl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Extl3	APN	14	65,314,438 (GRCm39)	missense	probably benign	0.08
IGL00329:Extl3	APN	14	65,313,070 (GRCm39)	missense	probably benign	0.03
IGL00959:Extl3	APN	14	65,314,361 (GRCm39)	missense	probably benign	0.01
IGL01321:Extl3	APN	14	65,304,211 (GRCm39)	missense	probably benign
IGL01443:Extl3	APN	14	65,314,919 (GRCm39)	missense	probably damaging	1.00
IGL01446:Extl3	APN	14	65,314,529 (GRCm39)	missense	probably benign
IGL01517:Extl3	APN	14	65,314,156 (GRCm39)	missense	probably damaging	1.00
IGL01955:Extl3	APN	14	65,313,415 (GRCm39)	missense	probably benign
IGL02073:Extl3	APN	14	65,313,788 (GRCm39)	missense	probably damaging	1.00
IGL02188:Extl3	APN	14	65,313,154 (GRCm39)	missense	probably damaging	1.00
IGL02269:Extl3	APN	14	65,315,032 (GRCm39)	missense	probably damaging	1.00
IGL02476:Extl3	APN	14	65,314,693 (GRCm39)	missense	probably benign	0.05
IGL02961:Extl3	APN	14	65,294,408 (GRCm39)	missense	possibly damaging	0.94
G1Funyon:Extl3	UTSW	14	65,313,733 (GRCm39)	missense	probably damaging	0.98
R0532:Extl3	UTSW	14	65,315,122 (GRCm39)	missense	probably benign	0.06
R0580:Extl3	UTSW	14	65,313,178 (GRCm39)	missense	probably damaging	1.00
R1495:Extl3	UTSW	14	65,313,316 (GRCm39)	missense	probably benign	0.01
R1916:Extl3	UTSW	14	65,315,071 (GRCm39)	missense	probably benign	0.20
R2409:Extl3	UTSW	14	65,315,017 (GRCm39)	missense	probably benign	0.02
R2484:Extl3	UTSW	14	65,313,184 (GRCm39)	missense	probably damaging	1.00
R4669:Extl3	UTSW	14	65,313,745 (GRCm39)	missense	possibly damaging	0.56
R4764:Extl3	UTSW	14	65,314,769 (GRCm39)	missense	probably benign	0.01
R4845:Extl3	UTSW	14	65,315,024 (GRCm39)	missense	probably benign	0.13
R4858:Extl3	UTSW	14	65,313,443 (GRCm39)	missense	probably benign	0.05
R5049:Extl3	UTSW	14	65,313,481 (GRCm39)	missense	probably benign	0.00
R5439:Extl3	UTSW	14	65,292,075 (GRCm39)	missense	probably damaging	1.00
R6196:Extl3	UTSW	14	65,313,584 (GRCm39)	missense	probably benign
R6251:Extl3	UTSW	14	65,314,375 (GRCm39)	missense	probably damaging	1.00
R6299:Extl3	UTSW	14	65,314,121 (GRCm39)	missense	probably benign
R6807:Extl3	UTSW	14	65,314,211 (GRCm39)	missense	probably damaging	1.00
R6939:Extl3	UTSW	14	65,304,189 (GRCm39)	missense	possibly damaging	0.93
R6975:Extl3	UTSW	14	65,304,246 (GRCm39)	missense	probably benign	0.01
R7474:Extl3	UTSW	14	65,314,090 (GRCm39)	missense	possibly damaging	0.87
R7846:Extl3	UTSW	14	65,313,181 (GRCm39)	missense	probably damaging	1.00
R7860:Extl3	UTSW	14	65,314,938 (GRCm39)	missense	probably benign	0.02
R8301:Extl3	UTSW	14	65,313,733 (GRCm39)	missense	probably damaging	0.98
R8922:Extl3	UTSW	14	65,292,255 (GRCm39)	missense	probably damaging	1.00
R9329:Extl3	UTSW	14	65,314,765 (GRCm39)	missense	possibly damaging	0.92
R9634:Extl3	UTSW	14	65,314,919 (GRCm39)	missense	probably damaging	1.00
R9703:Extl3	UTSW	14	65,292,103 (GRCm39)	missense	probably damaging	1.00
R9801:Extl3	UTSW	14	65,314,782 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CAGGTCCTGCTTGGCATTCTCTATG -3'
(R):5'- GGAGCACACTGATCCTTCCAGAAAC -3'

Sequencing Primer
(F):5'- ATGCTCTTCTTACAGGCTTCAATC -3'
(R):5'- ACAGGCTATACCATGTTGCG -3'

Posted On

2014-03-17