Mutagenetix > Incidental Mutation

Incidental Mutation 'R1022:Extl1'

98772

Institutional Source

Beutler Lab

Gene Symbol

Extl1

Ensembl Gene

ENSMUSG00000028838

Gene Name

exostoses (multiple)-like 1

Synonyms

D430033M16Rik

MMRRC Submission

039124-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.258) question?

Stock #

R1022 (G1)

Quality Score

106

Status

Not validated

Chromosome

Chromosomal Location

134356372-134383850 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

TGCGTTGCACCGATACCGGG to TG at 134357677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030643] [ENSMUST00000081094] [ENSMUST00000105872] [ENSMUST00000105874]

AlphaFold

Q9JKV7

Predicted Effect

probably benign
Transcript: ENSMUST00000030643

SMART Domains

Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838

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

probably benign
Transcript: ENSMUST00000081094

SMART Domains

Protein: ENSMUSP00000079875
Gene: ENSMUSG00000028836

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	1	280	6e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105872

SMART Domains

Protein: ENSMUSP00000101498
Gene: ENSMUSG00000028836

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	1	280	6e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105874

SMART Domains

Protein: ENSMUSP00000101500
Gene: ENSMUSG00000028836

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	70	277	3.4e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132387

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.7%
10x: 94.5%
20x: 87.2%

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn2l	A	T	7: 126,497,294	N425K	probably benign	Het
Ccar2	A	G	14: 70,140,515	S674P	probably damaging	Het
Cdc14b	A	T	13: 64,215,676	V257E	probably damaging	Het
Cfap100	T	A	6: 90,413,004	T101S	possibly damaging	Het
Dock6	A	T	9: 21,833,612	L556H	probably damaging	Het
Dqx1	G	A	6: 83,061,089	C486Y	probably damaging	Het
Drd1	T	A	13: 54,053,314	M294L	probably benign	Het
Fcho2	A	T	13: 98,732,659	I568N	probably damaging	Het
Folr1	A	G	7: 101,858,603	M210T	probably damaging	Het
Gatc	T	A	5: 115,340,845		probably null	Het
H1fnt	G	A	15: 98,256,755	T171I	unknown	Het
Hnrnpd	C	A	5: 99,966,157	*87L	probably null	Het
Hpd	C	T	5: 123,174,469	R279H	possibly damaging	Het
Igfals	G	A	17: 24,880,483	V183M	probably damaging	Het
March2	C	A	17: 33,709,788	G45C	probably damaging	Het
Myo15	A	T	11: 60,479,616	R1067S	probably benign	Het
Nell1	A	G	7: 50,120,663	S157G	probably damaging	Het
Nf1	A	T	11: 79,547,033	E2072D	probably damaging	Het
Nop2	T	A	6: 125,137,186	V205E	probably benign	Het
Nudt8	T	A	19: 4,001,925	W179R	probably damaging	Het
Olfr729	A	T	14: 50,147,927	F316I	probably benign	Het
Otx2	TCTGCTGCTGCTGCTGCTG	TCTGCTGCTGCTGCTG	14: 48,659,272		probably benign	Het
Prl5a1	G	A	13: 28,149,897	V128I	probably damaging	Het
Pth1r	T	C	9: 110,729,621	D96G	probably benign	Het
Pth1r	A	T	9: 110,742,227	L25Q	probably damaging	Het
Rwdd2b	A	T	16: 87,436,850	C121S	probably damaging	Het
Scn10a	A	G	9: 119,609,274	I1843T	probably damaging	Het
Sirt5	A	G	13: 43,370,769	I6V	probably benign	Het
Slc5a3	G	A	16: 92,077,495	A147T	probably damaging	Het
Stxbp1	T	C	2: 32,814,967		probably null	Het
Syt3	G	T	7: 44,390,682	G113V	probably damaging	Het
Tatdn2	A	G	6: 113,709,545	T644A	probably damaging	Het
Trim9	T	A	12: 70,252,017		probably null	Het
Tut1	A	G	19: 8,959,355	N181S	probably benign	Het
Vmn2r90	A	T	17: 17,728,138	I549F	probably 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
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
R4787:Extl1	UTSW	4	134364667	missense	probably damaging	1.00
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
R8472:Extl1	UTSW	4	134371292	missense	probably benign
R8977:Extl1	UTSW	4	134359124	missense	possibly damaging	0.95
R9079:Extl1	UTSW	4	134362664	missense	probably damaging	1.00
X0020:Extl1	UTSW	4	134358021	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGCGAAACGTGCCAAACG -3'
(R):5'- ATGAACTTCCTGGTAGCCACCGTC -3'

Sequencing Primer
(F):5'- CGTGCCAAACGCAACCC -3'
(R):5'- ACTGCCCCCTATCAAGGTG -3'

Posted On

2014-01-09