Mutagenetix > Incidental Mutations

Incidental Mutation 'R0989:Extl1'

97471

Institutional Source

Beutler Lab

Gene Symbol

Extl1

Ensembl Gene

ENSMUSG00000028838

Gene Name

exostoses (multiple)-like 1

Synonyms

D430033M16Rik

MMRRC Submission

039109-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.348) question?

Stock #

R0989 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

134356372-134383850 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

TGCGTTGCACCGATACCGGG to TG at 134357677 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101500 (fasta)

Gene Model

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

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	A	G	7: 131,428,544	D140G	probably damaging	Het
AF529169	T	A	9: 89,602,035	K436N	probably damaging	Het
Atp7b	A	G	8: 22,028,694	S43P	possibly damaging	Het
C4bp	G	A	1: 130,643,053	T262I	probably benign	Het
Cdh23	A	G	10: 60,534,510	Y169H	probably damaging	Het
Celsr1	T	C	15: 86,031,279	E831G	probably benign	Het
Celsr2	A	C	3: 108,403,272	M1498R	probably benign	Het
Crim1	T	C	17: 78,200,944	V59A	probably benign	Het
Dnah10	A	G	5: 124,797,938	I2560V	probably benign	Het
Enpp2	A	T	15: 54,875,759	M376K	possibly damaging	Het
Fam120a	G	T	13: 48,885,743	A979E	possibly damaging	Het
Fbxw11	T	C	11: 32,735,149	V328A	probably benign	Het
Gm4846	G	A	1: 166,487,120	S318L	possibly damaging	Het
Golm1	A	T	13: 59,640,183	Y301N	probably benign	Het
Ipo8	T	C	6: 148,796,682	T614A	probably benign	Het
Klhl33	T	A	14: 50,891,822	Y390F	probably damaging	Het
Mlh3	A	G	12: 85,269,395	S6P	probably benign	Het
Neurod2	A	G	11: 98,327,979	S120P	probably damaging	Het
Nfkb1	A	G	3: 135,589,396	S896P	probably benign	Het
Nr3c2	T	C	8: 77,187,564	Y687H	probably damaging	Het
Olfr538	A	C	7: 140,574,287	I45L	probably damaging	Het
Olfr552	G	A	7: 102,604,483	G43D	probably damaging	Het
Parp3	C	T	9: 106,473,082		probably null	Het
Pcolce2	T	A	9: 95,638,723	M51K	probably benign	Het
Pnoc	T	C	14: 65,404,868	K149E	probably damaging	Het
Polr1b	T	G	2: 129,126,077	V1130G	probably damaging	Het
Prcp	A	T	7: 92,910,216	I163F	probably benign	Het
Sez6l2	A	G	7: 126,959,844	D361G	probably damaging	Het
Slc4a9	T	A	18: 36,536,867	L785*	probably null	Het
Ssna1	T	C	2: 25,271,563	T91A	probably benign	Het
St18	A	G	1: 6,827,881	T636A	probably benign	Het
Tln2	C	T	9: 67,229,454	A1250T	probably damaging	Het
Tnk2	A	G	16: 32,680,358	M815V	probably damaging	Het
Tspan31	T	A	10: 127,068,327	H167L	probably damaging	Het
Tspoap1	T	A	11: 87,765,823	C287S	probably damaging	Het
Unc80	T	C	1: 66,646,440	F2241S	possibly 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
R0990:Extl1	UTSW	4	134357677	unclassified	probably benign
R1022: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
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

2014-01-05