Mutagenetix > Incidental Mutations

Incidental Mutation 'R7800:Extl1'

600467

Institutional Source

Beutler Lab

Gene Symbol

Extl1

Ensembl Gene

ENSMUSG00000028838

Gene Name

exostoses (multiple)-like 1

Synonyms

D430033M16Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.462) question?

Stock #

R7800 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134356372-134383850 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134371618 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 34 (G34D)

Ref Sequence

ENSEMBL: ENSMUSP00000030643 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030643
AA Change: G34D

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: G34D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,187,872	D1264G	probably benign	Het
Ace	T	C	11: 105,986,058	F1122S	probably damaging	Het
Actr10	T	G	12: 70,943,509	Y112D	probably benign	Het
Cacnb1	T	G	11: 98,009,295	I346L	possibly damaging	Het
Camsap2	T	C	1: 136,281,901	T607A	probably damaging	Het
Cby3	T	C	11: 50,359,348	F32S	probably damaging	Het
Cers5	G	T	15: 99,736,241	H409N	probably benign	Het
Ces1h	A	T	8: 93,379,694	L11H		Het
Clcnkb	T	C	4: 141,414,522	Y51C	probably benign	Het
Cnnm2	A	G	19: 46,877,981	E856G	probably benign	Het
Cnot1	A	G	8: 95,765,062	V378A	probably benign	Het
Crisp4	A	C	1: 18,128,749	S154A	probably benign	Het
Ddx58	T	C	4: 40,211,618	E650G	probably benign	Het
Disp1	C	T	1: 183,098,986	R241Q	probably benign	Het
Ermard	G	A	17: 15,056,803	R429H	probably benign	Het
Gen1	T	C	12: 11,241,862	D707G	probably benign	Het
Hist1h1d	C	A	13: 23,555,367	T93N	possibly damaging	Het
Igkv5-37	A	C	6: 69,963,515	S48R	possibly damaging	Het
Ilvbl	C	T	10: 78,583,975	A571V	possibly damaging	Het
Itgb1	A	G	8: 128,713,237	K136E	possibly damaging	Het
Lhx8	A	G	3: 154,321,647	F253L	probably damaging	Het
Naa25	A	G	5: 121,424,531	T459A	possibly damaging	Het
Nr3c2	A	G	8: 76,909,992	Y574C	probably damaging	Het
Nrxn1	C	T	17: 91,089,207		probably benign	Het
Ntrk3	T	A	7: 78,302,740	R576S	probably benign	Het
Nup210l	A	G	3: 90,134,597	Y403C	probably damaging	Het
Olfr693	A	G	7: 106,677,574	V304A	probably benign	Het
Olfr920	T	G	9: 38,756,618	L310W	probably damaging	Het
Otogl	T	A	10: 107,886,515	Y326F	probably damaging	Het
Pcdha1	T	A	18: 36,931,373	D363E	probably damaging	Het
Pcdhb3	T	A	18: 37,301,921	N313K	probably benign	Het
Pcdhb9	A	C	18: 37,401,549	S199R	probably benign	Het
Pde4dip	C	T	3: 97,715,283	D1537N	probably damaging	Het
Pinx1	A	G	14: 63,919,535	K304E	probably benign	Het
Pnlip	T	C	19: 58,681,702	V458A	probably benign	Het
Polr3a	C	A	14: 24,484,387	M60I	probably null	Het
Qrich2	G	T	11: 116,456,860	S1046*	probably null	Het
Rps6ka5	G	A	12: 100,558,565	P638S	probably damaging	Het
Slc6a13	T	A	6: 121,321,699	N158K	probably damaging	Het
Sord	T	C	2: 122,259,080	V187A	probably damaging	Het
Sult2a2	A	G	7: 13,734,785	T59A	probably benign	Het
Thbs2	T	C	17: 14,676,296	D777G	probably damaging	Het
Tmed9	A	G	13: 55,595,532	D159G	probably benign	Het
Trbc1	A	G	6: 41,539,261	I142V		Het
Usp17ld	A	G	7: 103,250,834	V297A	probably damaging	Het
Vmn1r167	A	T	7: 23,504,644	*316R	probably null	Het
Wdr59	C	A	8: 111,521,938	R15L		Het
Zfp189	C	T	4: 49,529,367	P157S	possibly damaging	Het
Zfp407	C	T	18: 84,560,675	G771D	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
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
X0020:Extl1	UTSW	4	134358021	unclassified	probably null

Predicted Primers

PCR Primer
(F):5'- TTTCCCCTACACTTGGAGGTG -3'
(R):5'- GACCTGCCTTCAATGGTGAGAG -3'

Sequencing Primer
(F):5'- CCCTACACTTGGAGGTGTCAAAG -3'
(R):5'- TGGACCAGAAGGCTGATTTCC -3'

Posted On

2019-11-26