Mutagenetix > Incidental Mutations

Incidental Mutation 'R6216:Extl1'

503703

Institutional Source

Beutler Lab

Gene Symbol

Extl1

Ensembl Gene

ENSMUSG00000028838

Gene Name

exostoses (multiple)-like 1

Synonyms

D430033M16Rik

MMRRC Submission

044349-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

R6216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134356372-134383850 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134363130 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 345 (T345A)

Ref Sequence

ENSEMBL: ENSMUSP00000030643 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000030643
AA Change: T345A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: T345A

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

noncoding transcript
Transcript: ENSMUST00000132387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142730

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,257,627	D488G	probably benign	Het
Adgrv1	C	A	13: 81,524,471		probably null	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Alkbh3	G	A	2: 94,008,536		probably benign	Het
Ankrd22	A	T	19: 34,124,169		probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arid2	A	G	15: 96,356,909	D212G	probably benign	Het
Bbx	A	T	16: 50,251,388	S225T	probably benign	Het
Bivm	T	A	1: 44,126,868		probably null	Het
Bpifb3	A	G	2: 153,925,853	Y282C	probably benign	Het
Cacna1h	A	T	17: 25,378,819	I1767N	probably damaging	Het
Ccdc28a	G	T	10: 18,224,971	S36*	probably null	Het
Ccser2	A	G	14: 36,940,508	S240P	probably damaging	Het
Ceacam1	A	T	7: 25,471,996	S348T	probably benign	Het
Ddx49	C	T	8: 70,297,284	G161D	probably damaging	Het
Dhx16	A	G	17: 35,882,972	E353G	possibly damaging	Het
Etv2	A	G	7: 30,634,611		probably null	Het
Fam163a	A	T	1: 156,078,995	S137T	probably benign	Het
Fermt2	A	T	14: 45,459,881	M671K	possibly damaging	Het
Fsd1l	T	C	4: 53,694,742	C388R	probably damaging	Het
Galnt18	A	C	7: 111,513,550	V470G	probably benign	Het
Grin2b	T	A	6: 135,772,399	I602F	probably damaging	Het
Gucy1b1	G	T	3: 82,046,713		probably null	Het
Hace1	T	C	10: 45,618,547	V151A	probably benign	Het
Hadhb	T	A	5: 30,174,931	D258E	probably benign	Het
Heatr1	C	T	13: 12,432,664	T1746I	probably benign	Het
Hrnr	T	C	3: 93,332,162	S3236P	unknown	Het
Kcnd1	G	C	X: 7,823,909	A23P	probably damaging	Homo
Kiz	C	A	2: 146,889,497	D302E	probably damaging	Het
Kng2	A	T	16: 22,987,593	W619R	probably damaging	Het
Mfap3l	C	A	8: 60,671,807	T361K	probably damaging	Het
Mlec	T	C	5: 115,150,317	H160R	probably benign	Het
Myo16	T	C	8: 10,315,494	L89P	probably benign	Het
Neb	T	C	2: 52,224,552	I4232V	probably benign	Het
Nf1	A	G	11: 79,411,607	I334V	possibly damaging	Het
Nipbl	A	C	15: 8,318,383	F1942V	probably damaging	Het
Olfr1205	T	C	2: 88,831,311	S65P	probably damaging	Het
Olfr1242	C	A	2: 89,493,722	V197F	probably damaging	Het
Olfr642	A	G	7: 104,049,695	Y220H	probably damaging	Het
Olfr699	A	T	7: 106,790,458	I181N	probably benign	Het
Pabpc2	G	T	18: 39,774,719	A346S	probably damaging	Het
Paxip1	T	C	5: 27,766,173	T393A	unknown	Het
Pcdhgb5	A	T	18: 37,731,928	T259S	probably benign	Het
Pfkp	A	T	13: 6,619,188	L253H	probably benign	Het
Piezo1	T	C	8: 122,489,130	D1428G	probably benign	Het
Pih1d3	A	T	1: 31,223,351	D138V	probably damaging	Het
Pkd1l2	T	G	8: 117,081,470	D105A	probably damaging	Het
Pou2f1	G	T	1: 165,880,320		probably benign	Het
Ppfia4	T	C	1: 134,329,183	E100G	probably damaging	Het
Ppp1r15a	G	T	7: 45,524,022	T454K	probably damaging	Het
Prpsap1	A	T	11: 116,471,413	I381N	probably damaging	Het
Ptx3	T	A	3: 66,224,844	V262E	probably damaging	Het
Rab21	A	T	10: 115,294,926	H158Q	probably benign	Het
Rasa2	A	G	9: 96,544,304	S830P	probably damaging	Het
Rdh1	G	A	10: 127,764,753	S215N	probably benign	Het
Rhot1	G	A	11: 80,251,059	R463H	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908		probably benign	Het
Sart3	C	T	5: 113,743,206	A938T	probably benign	Het
Selenom	A	T	11: 3,514,915		probably benign	Het
Selenop	T	C	15: 3,279,465	C300R	probably damaging	Het
Skint1	T	A	4: 112,021,482	S204T	probably benign	Het
Ss18l1	A	G	2: 180,061,913	N313S	unknown	Het
Sycp2l	A	G	13: 41,141,724	D289G	probably damaging	Het
Terf1	C	T	1: 15,818,997	H188Y	probably benign	Het
Tmem116	C	T	5: 121,491,108	T188M	probably benign	Het
Trdn	A	G	10: 33,305,069	T357A	probably damaging	Het
Trip11	A	C	12: 101,890,600	M401R	probably benign	Het
Ubald2	A	C	11: 116,434,385	D26A	probably benign	Het
Ube2w	C	G	1: 16,619,284		probably benign	Het
Vmn2r101	T	A	17: 19,591,005	S450R	probably benign	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
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
X0020:Extl1	UTSW	4	134358021	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGCCCTAATTGAGTAGCCAGAG -3'
(R):5'- TAAAACCAGCTGTGTGACCC -3'

Sequencing Primer
(F):5'- AGACCAGAAGCGGTGACTTCC -3'
(R):5'- TGTGTGACCCTGAACACAG -3'

Posted On

2018-02-27