Mutagenetix > Incidental Mutation

Incidental Mutation 'R8922:Extl3'

679356

Institutional Source

Beutler Lab

Gene Symbol

Extl3

Ensembl Gene

ENSMUSG00000021978

Gene Name

exostosin-like glycosyltransferase 3

Synonyms

2900009G18Rik

MMRRC Submission

068767-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8922 (G1)

Quality Score

124.008

Status

Validated

Chromosome

Chromosomal Location

65289509-65387304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65292255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 856 (T856I)

Ref Sequence

ENSEMBL: ENSMUSP00000022550 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022550
AA Change: T856I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: T856I

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

probably damaging
Transcript: ENSMUST00000225633
AA Change: T856I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (78/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 88,295,177 (GRCm39)	D105G	possibly damaging	Het
Abhd14b	T	C	9: 106,328,835 (GRCm39)		probably null	Het
Acot1	C	T	12: 84,064,085 (GRCm39)	Q398*	probably null	Het
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Aldh1l1	T	A	6: 90,536,256 (GRCm39)	F54I	probably damaging	Het
Arhgap33	C	T	7: 30,223,417 (GRCm39)	E871K	probably damaging	Het
Aspg	A	T	12: 112,089,830 (GRCm39)	D456V	possibly damaging	Het
Cacna1b	A	C	2: 24,622,340 (GRCm39)	S215A	possibly damaging	Het
Car3	A	T	3: 14,931,952 (GRCm39)	T108S		Het
Ccdc91	C	T	6: 147,412,358 (GRCm39)	Q23*	probably null	Het
Cd300lg	A	T	11: 101,945,028 (GRCm39)	I413F	probably damaging	Het
Ces2h	T	A	8: 105,744,756 (GRCm39)	M378K	probably benign	Het
Cfap44	C	T	16: 44,272,030 (GRCm39)	T1261I	probably benign	Het
Cir1	G	A	2: 73,118,053 (GRCm39)	S164L	possibly damaging	Het
Clasp2	A	T	9: 113,725,728 (GRCm39)	K790*	probably null	Het
Cpne8	A	T	15: 90,456,213 (GRCm39)	D183E	probably damaging	Het
Dhrs13	A	G	11: 77,923,425 (GRCm39)	I48V	possibly damaging	Het
Dpp8	G	T	9: 64,981,793 (GRCm39)	V692L	probably benign	Het
Exoc2	A	T	13: 31,055,838 (GRCm39)	I660N	probably benign	Het
Exosc5	T	C	7: 25,363,673 (GRCm39)	V88A	probably benign	Het
Flnc	T	C	6: 29,456,835 (GRCm39)	V2277A	probably damaging	Het
Frmd8	A	G	19: 5,923,295 (GRCm39)	I52T	probably benign	Het
Gm8947	C	T	1: 151,068,655 (GRCm39)	R163C	probably benign	Het
Golga7	A	T	8: 23,740,288 (GRCm39)	C81S	probably damaging	Het
Grik1	A	C	16: 87,693,167 (GRCm39)	S879A	unknown	Het
Helz	A	G	11: 107,539,985 (GRCm39)	T1002A	possibly damaging	Het
Hes1	T	A	16: 29,884,725 (GRCm39)	L62*	probably null	Het
Hmgn2-ps	A	G	8: 73,058,953 (GRCm39)	S25P	probably benign	Het
Hnrnpdl	A	T	5: 100,184,419 (GRCm39)	Y371*	probably null	Het
Ifna11	T	C	4: 88,738,431 (GRCm39)	V79A	probably benign	Het
Itga4	A	G	2: 79,085,938 (GRCm39)		probably benign	Het
Kap	T	C	6: 133,827,054 (GRCm39)	I110V	probably benign	Het
Lmbrd2	A	G	15: 9,172,231 (GRCm39)	K342E	probably damaging	Het
Lrba	A	G	3: 86,263,973 (GRCm39)	D1549G	probably damaging	Het
Luzp1	C	T	4: 136,270,233 (GRCm39)	H819Y	probably damaging	Het
Mmp21	T	A	7: 133,276,000 (GRCm39)		probably benign	Het
Mto1	T	C	9: 78,377,928 (GRCm39)	V590A	probably benign	Het
Myom3	T	C	4: 135,492,222 (GRCm39)	L122P	probably damaging	Het
Nat10	T	C	2: 103,582,938 (GRCm39)	Y161C	probably damaging	Het
Ncor2	A	G	5: 125,163,939 (GRCm39)	V197A	unknown	Het
Opn4	A	C	14: 34,314,955 (GRCm39)	S439R	probably benign	Het
Or12j3	T	A	7: 139,953,389 (GRCm39)	I45F	possibly damaging	Het
Or4c3d	C	A	2: 89,882,695 (GRCm39)		probably benign	Het
Or56a41	C	A	7: 104,740,469 (GRCm39)	V126L	probably benign	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,957 (GRCm39)	D231E	unknown	Het
Pik3c2a	G	T	7: 116,017,659 (GRCm39)	Q33K	probably damaging	Het
Pm20d1	G	T	1: 131,728,853 (GRCm39)	S93I	possibly damaging	Het
Pou3f1	C	T	4: 124,552,176 (GRCm39)	A226V	possibly damaging	Het
Ppl	T	C	16: 4,923,815 (GRCm39)	E191G	probably benign	Het
Prkag1	T	C	15: 98,712,147 (GRCm39)	T208A	probably benign	Het
Rb1cc1	T	C	1: 6,319,194 (GRCm39)	I871T	probably benign	Het
Rhd	T	C	4: 134,612,627 (GRCm39)	S293P	probably damaging	Het
Rprd2	G	T	3: 95,687,896 (GRCm39)	T252K	probably damaging	Het
Scn5a	C	A	9: 119,363,766 (GRCm39)	R458L	probably benign	Het
Scrib	C	T	15: 75,933,587 (GRCm39)		probably null	Het
Sec24d	G	A	3: 123,144,488 (GRCm39)	G655E	probably damaging	Het
Serpine3	A	G	14: 62,910,503 (GRCm39)	R199G	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc44a1	A	G	4: 53,544,545 (GRCm39)	K419E	probably damaging	Het
Speer4a3	C	T	5: 26,156,594 (GRCm39)	M128I	possibly damaging	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tcstv2a	A	G	13: 120,725,666 (GRCm39)	E110G	probably benign	Het
Tesmin	A	G	19: 3,454,163 (GRCm39)	K346E	probably damaging	Het
Thpo	A	T	16: 20,547,680 (GRCm39)	L6Q	unknown	Het
Tlr2	T	A	3: 83,745,075 (GRCm39)	E336V	probably benign	Het
Tmem167b	A	G	3: 108,467,541 (GRCm39)	L35P	probably benign	Het
Topaz1	A	T	9: 122,625,101 (GRCm39)	E1395D	possibly damaging	Het
Trim29	G	T	9: 43,233,636 (GRCm39)	R434L	possibly damaging	Het
Trim68	T	C	7: 102,327,550 (GRCm39)	I468V	probably benign	Het
Ttn	C	A	2: 76,542,628 (GRCm39)	V33453F	probably benign	Het
Ubac1	A	T	2: 25,896,621 (GRCm39)	V298D	probably damaging	Het
Vmn1r185	C	A	7: 26,310,825 (GRCm39)	V227F	probably damaging	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Zbtb16	A	G	9: 48,743,857 (GRCm39)	Y152H	probably benign	Het
Zbtb20	A	T	16: 43,397,968 (GRCm39)	N19I	probably damaging	Het
Zfp438	A	G	18: 5,213,422 (GRCm39)	M512T	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
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
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'- GCCCTAGATGAACTTGAAGCAC -3'
(R):5'- TGTTCAGGGCAGTGACACAG -3'

Sequencing Primer
(F):5'- CCTAGATGAACTTGAAGCACTTGGTC -3'
(R):5'- GCACCCGTTAATGTTTTAGATGCAC -3'

Posted On

2021-08-02