Mutagenetix > Incidental Mutation

Incidental Mutation 'R7474:Extl3'

579367

Institutional Source

Beutler Lab

Gene Symbol

Extl3

Ensembl Gene

ENSMUSG00000021978

Gene Name

exostosin-like glycosyltransferase 3

Synonyms

2900009G18Rik

MMRRC Submission

045548-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65289509-65387304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65314090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 364 (E364G)

Ref Sequence

ENSEMBL: ENSMUSP00000022550 (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: E364G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: E364G

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

possibly damaging
Transcript: ENSMUST00000225633
AA Change: E364G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,278,088 (GRCm39)	C3089*	probably null	Het
Abcc1	A	G	16: 14,290,850 (GRCm39)	T1487A	possibly damaging	Het
Agfg1	T	A	1: 82,860,132 (GRCm39)	L333*	probably null	Het
Agfg2	C	A	5: 137,652,130 (GRCm39)	V410F	possibly damaging	Het
Amotl2	T	C	9: 102,607,310 (GRCm39)	V706A	probably benign	Het
Apob	A	T	12: 8,059,185 (GRCm39)	T2556S	probably benign	Het
Asb18	T	A	1: 89,920,755 (GRCm39)	H174L	possibly damaging	Het
Atp10a	G	A	7: 58,308,275 (GRCm39)	E25K	unknown	Het
Aup1	T	C	6: 83,031,948 (GRCm39)	L65P	probably benign	Het
Blvra	T	C	2: 126,928,769 (GRCm39)	F86L	probably damaging	Het
Cabp4	T	C	19: 4,189,398 (GRCm39)	D53G	probably benign	Het
Cd300c2	T	A	11: 114,889,122 (GRCm39)	E153V	probably benign	Het
Crxos	A	G	7: 15,636,856 (GRCm39)	E143G	possibly damaging	Het
Csmd2	A	G	4: 128,439,920 (GRCm39)	N3125D		Het
Cyp2c67	T	A	19: 39,605,876 (GRCm39)	Q340L	probably null	Het
Dscam	T	A	16: 96,621,089 (GRCm39)	N540Y	possibly damaging	Het
E2f8	G	A	7: 48,525,508 (GRCm39)	R155W	probably damaging	Het
Ext1	A	T	15: 53,207,885 (GRCm39)	V292D	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fsd1	A	T	17: 56,295,149 (GRCm39)	D46V	possibly damaging	Het
Gcnt2	T	A	13: 41,111,733 (GRCm39)	L374H	probably damaging	Het
Gm10309	G	A	17: 86,812,095 (GRCm39)		probably benign	Het
Gm14410	A	T	2: 176,894,618 (GRCm39)		probably null	Het
Gm5114	A	T	7: 39,057,404 (GRCm39)	S738R	probably benign	Het
Gtf3c2	C	A	5: 31,325,100 (GRCm39)	G502W	probably damaging	Het
Insc	G	A	7: 114,368,058 (GRCm39)		probably null	Het
Kcnt2	T	C	1: 140,498,216 (GRCm39)	Y898H	possibly damaging	Het
Kctd19	C	A	8: 106,118,664 (GRCm39)	R299L	probably benign	Het
Klf10	T	C	15: 38,297,446 (GRCm39)	N198S	probably benign	Het
L3mbtl1	A	T	2: 162,808,524 (GRCm39)	D574V	probably damaging	Het
Lamc1	G	A	1: 153,208,011 (GRCm39)	A92V	possibly damaging	Het
Lrrc63	T	A	14: 75,363,643 (GRCm39)	T163S	possibly damaging	Het
Mak	T	A	13: 41,204,956 (GRCm39)	K127N	probably damaging	Het
Mdga2	G	A	12: 66,533,535 (GRCm39)	Q945*	probably null	Het
Mthfr	T	A	4: 148,137,059 (GRCm39)	I519N	possibly damaging	Het
Mtmr2	C	A	9: 13,710,521 (GRCm39)	H357N	probably damaging	Het
Myh13	A	T	11: 67,217,990 (GRCm39)	E21V	possibly damaging	Het
Myh13	A	C	11: 67,258,537 (GRCm39)	Q184P		Het
Nans	T	A	4: 46,502,484 (GRCm39)	L307Q	probably damaging	Het
Ncan	C	A	8: 70,554,691 (GRCm39)	R1042L	possibly damaging	Het
Nrg3	T	C	14: 38,733,956 (GRCm39)	E310G	probably damaging	Het
Obsl1	A	C	1: 75,474,828 (GRCm39)	N857K	probably benign	Het
Olfml2a	T	C	2: 38,850,273 (GRCm39)	V663A	probably damaging	Het
Or14j10	T	C	17: 37,935,277 (GRCm39)	D83G	probably benign	Het
Or51v15-ps1	C	A	7: 103,278,354 (GRCm39)	W271L	unknown	Het
Or52e19b	A	G	7: 103,032,969 (GRCm39)	I80T	probably damaging	Het
Or6d13	G	T	6: 116,517,999 (GRCm39)	C195F	probably damaging	Het
Or8i2	T	C	2: 86,852,898 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,740,951 (GRCm39)	M363V	possibly damaging	Het
Pramel26	T	C	4: 143,538,269 (GRCm39)	D234G	probably benign	Het
Prickle1	A	T	15: 93,406,552 (GRCm39)	V157D	possibly damaging	Het
Pstk	A	G	7: 130,975,362 (GRCm39)	N105S	probably benign	Het
Ptpn21	A	G	12: 98,703,622 (GRCm39)		probably null	Het
Rnf2	T	A	1: 151,347,467 (GRCm39)	E277D	probably benign	Het
Rnpepl1	T	C	1: 92,846,694 (GRCm39)	F532S	probably benign	Het
Rtn1	C	T	12: 72,355,164 (GRCm39)	A261T	possibly damaging	Het
Ryr2	A	G	13: 11,609,762 (GRCm39)	S4355P	probably benign	Het
Sacs	T	G	14: 61,448,627 (GRCm39)	L3558V	probably benign	Het
Senp6	T	C	9: 80,049,610 (GRCm39)	V1047A	probably damaging	Het
Slco2b1	A	T	7: 99,314,039 (GRCm39)	C515S	probably damaging	Het
Smgc	T	A	15: 91,744,892 (GRCm39)	V732E	possibly damaging	Het
Sorcs1	T	C	19: 50,141,550 (GRCm39)	M1105V	possibly damaging	Het
Spats1	A	G	17: 45,768,087 (GRCm39)	Y160H	possibly damaging	Het
Tnfsf14	T	A	17: 57,497,848 (GRCm39)	D128V		Het
Tns3	T	C	11: 8,480,894 (GRCm39)	Q234R	probably damaging	Het
Uxs1	A	G	1: 43,796,184 (GRCm39)	V306A	possibly damaging	Het
Vac14	T	A	8: 111,363,066 (GRCm39)	V304D	probably damaging	Het
Vangl1	A	G	3: 102,091,565 (GRCm39)	F174L	probably benign	Het
Vav1	A	G	17: 57,606,102 (GRCm39)	E242G	probably benign	Het
Vsir	A	G	10: 60,204,701 (GRCm39)	N305D	probably benign	Het
Vwce	T	A	19: 10,624,305 (GRCm39)	C399S	possibly damaging	Het
Wrn	A	T	8: 33,819,209 (GRCm39)	L248M	probably damaging	Het
Zfp141	T	A	7: 42,125,678 (GRCm39)	K265*	probably null	Het
Zfp735	A	T	11: 73,602,002 (GRCm39)	K315N	possibly 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
R1395:Extl3	UTSW	14	65,314,945 (GRCm39)	missense	possibly damaging	0.95
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
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'- AGTAACTCCAGGCGGTCTTC -3'
(R):5'- GTACAACGTCAGTACAGGCC -3'

Sequencing Primer
(F):5'- TTCCCGCTCCCCACACAG -3'
(R):5'- TCTATGCTGCCCAGTACAGAG -3'

Posted On

2019-10-07