Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Extl1'

346002

Institutional Source

Beutler Lab

Gene Symbol

Extl1

Ensembl Gene

ENSMUSG00000028838

Gene Name

exostoses (multiple)-like 1

Synonyms

D430033M16Rik

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.283) question?

Stock #

R4606 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134356372-134383850 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134371379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 114 (S114P)

Ref Sequence

ENSEMBL: ENSMUSP00000030643 (fasta)

Gene Model

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

AlphaFold

Q9JKV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000030643
AA Change: S114P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: S114P

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

Meta Mutation Damage Score

0.4803

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,210,745 (GRCm38)	W178R	probably benign	Het
Abcb5	T	C	12: 118,932,610 (GRCm38)		probably null	Het
Akr1b1	C	A	6: 34,306,664 (GRCm38)		probably benign	Het
Arid1a	A	G	4: 133,687,323 (GRCm38)	F1199S	unknown	Het
Atp4b	A	G	8: 13,389,998 (GRCm38)	F116S	probably damaging	Het
Atp6v1b1	T	C	6: 83,752,461 (GRCm38)	S127P	probably damaging	Het
Blk	C	T	14: 63,374,203 (GRCm38)	V428I	probably benign	Het
Ccser1	T	C	6: 61,311,584 (GRCm38)	S244P	probably damaging	Het
Ceacam1	T	A	7: 25,474,526 (GRCm38)	I235F	probably damaging	Het
Cyp2g1	T	A	7: 26,814,154 (GRCm38)	Y173N	possibly damaging	Het
Ddr2	T	A	1: 170,001,852 (GRCm38)	I278F	probably benign	Het
Degs1	T	C	1: 182,276,823 (GRCm38)	D299G	probably damaging	Het
Dip2b	G	A	15: 100,215,329 (GRCm38)	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 49,962,181 (GRCm38)	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,316,590 (GRCm38)		probably benign	Het
Ephb6	A	G	6: 41,616,574 (GRCm38)	Y518C	probably benign	Het
Eps15l1	A	T	8: 72,373,916 (GRCm38)	F606I	possibly damaging	Het
Fat1	T	C	8: 44,950,683 (GRCm38)	V157A	possibly damaging	Het
Fcho1	A	T	8: 71,712,480 (GRCm38)	D444E	probably benign	Het
Fgd3	T	A	13: 49,296,560 (GRCm38)	D71V	probably damaging	Het
Fgd5	T	A	6: 91,988,209 (GRCm38)	D316E	possibly damaging	Het
Gys2	A	T	6: 142,454,484 (GRCm38)	F334I	possibly damaging	Het
Ik	G	T	18: 36,753,555 (GRCm38)	R360L	possibly damaging	Het
Kazn	A	C	4: 142,118,288 (GRCm38)		probably null	Het
Kmt2d	A	T	15: 98,839,716 (GRCm38)		probably benign	Het
Krr1	T	C	10: 111,975,677 (GRCm38)		probably benign	Het
Krt87	C	T	15: 101,487,049 (GRCm38)	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,630,313 (GRCm38)	V428A	probably benign	Het
Lvrn	C	A	18: 46,864,765 (GRCm38)	T260K	possibly damaging	Het
Mcc	C	T	18: 44,468,421 (GRCm38)	E614K	probably damaging	Het
Msrb3	A	T	10: 120,849,997 (GRCm38)	V81D	probably damaging	Het
Muc19	C	T	15: 91,934,383 (GRCm38)		noncoding transcript	Het
Myadm	T	A	7: 3,297,400 (GRCm38)	L226*	probably null	Het
Myof	C	T	19: 37,967,099 (GRCm38)	V526M	probably damaging	Het
Nckap5l	A	G	15: 99,429,323 (GRCm38)		probably benign	Het
Or1r1	A	G	11: 73,983,892 (GRCm38)	S239P	probably damaging	Het
Or4b1	G	T	2: 90,148,816 (GRCm38)		probably benign	Het
Or4c35	C	A	2: 89,978,006 (GRCm38)	A76D	possibly damaging	Het
Or9g10	T	A	2: 85,753,940 (GRCm38)		probably benign	Het
Pars2	T	C	4: 106,654,050 (GRCm38)	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,265,528 (GRCm38)	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,308,652 (GRCm38)	D338E	probably damaging	Het
Pik3r2	G	A	8: 70,772,136 (GRCm38)	R199*	probably null	Het
Pla2g4f	C	T	2: 120,313,986 (GRCm38)	R24Q	probably benign	Het
Pnma2	T	C	14: 66,916,232 (GRCm38)	I35T	probably benign	Het
Podn	C	A	4: 108,017,867 (GRCm38)	A568S	probably benign	Het
Pou3f1	A	T	4: 124,658,836 (GRCm38)	E377V	probably damaging	Het
Ppfia1	T	C	7: 144,485,192 (GRCm38)	D494G	probably damaging	Het
Pramel34	A	T	5: 93,636,602 (GRCm38)	D137E	probably damaging	Het
Ptpn9	A	T	9: 57,022,211 (GRCm38)	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,487 (GRCm38)	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,468,999 (GRCm38)	L57F	probably damaging	Het
Rnf217	T	A	10: 31,517,476 (GRCm38)	K370*	probably null	Het
Rpap2	G	A	5: 107,601,795 (GRCm38)	V62I	possibly damaging	Het
Scaper	A	T	9: 55,655,903 (GRCm38)		probably null	Het
Sos2	T	C	12: 69,614,606 (GRCm38)		probably benign	Het
Sptbn5	C	T	2: 120,067,446 (GRCm38)		probably null	Het
Sumo1	A	G	1: 59,644,509 (GRCm38)		probably benign	Het
Syne2	C	A	12: 75,989,253 (GRCm38)	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,730,769 (GRCm38)	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,978,624 (GRCm38)	M1140K	probably benign	Het
Usp29	G	A	7: 6,963,357 (GRCm38)		probably null	Het
Wdr7	C	T	18: 63,779,945 (GRCm38)	Q946*	probably null	Het
Ythdf1	T	C	2: 180,912,182 (GRCm38)	D46G	probably damaging	Het
Zfp217	T	C	2: 170,119,750 (GRCm38)	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,393,783 (GRCm38)	I256T	probably benign	Het

Other mutations in Extl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Extl1	APN	4	134,358,019 (GRCm38)	missense	probably damaging	1.00
IGL01404:Extl1	APN	4	134,359,203 (GRCm38)	missense	probably benign	0.06
IGL03040:Extl1	APN	4	134,360,629 (GRCm38)	splice site	probably benign
R0165:Extl1	UTSW	4	134,357,703 (GRCm38)	missense	probably damaging	1.00
R0566:Extl1	UTSW	4	134,357,677 (GRCm38)	unclassified	probably benign
R0575:Extl1	UTSW	4	134,357,677 (GRCm38)	unclassified	probably benign
R0941:Extl1	UTSW	4	134,357,677 (GRCm38)	unclassified	probably benign
R0943:Extl1	UTSW	4	134,357,677 (GRCm38)	unclassified	probably benign
R0988:Extl1	UTSW	4	134,357,677 (GRCm38)	unclassified	probably benign
R0989:Extl1	UTSW	4	134,357,677 (GRCm38)	unclassified	probably benign
R0990:Extl1	UTSW	4	134,357,677 (GRCm38)	unclassified	probably benign
R1022:Extl1	UTSW	4	134,357,677 (GRCm38)	unclassified	probably benign
R1035:Extl1	UTSW	4	134,357,677 (GRCm38)	unclassified	probably benign
R1344:Extl1	UTSW	4	134,359,241 (GRCm38)	missense	probably damaging	0.99
R1495:Extl1	UTSW	4	134,357,677 (GRCm38)	unclassified	probably benign
R1699:Extl1	UTSW	4	134,364,583 (GRCm38)	nonsense	probably null
R1750:Extl1	UTSW	4	134,362,688 (GRCm38)	missense	probably benign	0.00
R1768:Extl1	UTSW	4	134,371,138 (GRCm38)	missense	probably benign
R1883:Extl1	UTSW	4	134,364,606 (GRCm38)	missense	probably benign	0.01
R2143:Extl1	UTSW	4	134,371,044 (GRCm38)	missense	probably benign	0.31
R2144:Extl1	UTSW	4	134,371,044 (GRCm38)	missense	probably benign	0.31
R2155:Extl1	UTSW	4	134,363,180 (GRCm38)	missense	possibly damaging	0.71
R4298:Extl1	UTSW	4	134,357,658 (GRCm38)	missense	probably damaging	1.00
R4605:Extl1	UTSW	4	134,359,834 (GRCm38)	missense	probably benign	0.00
R4606:Extl1	UTSW	4	134,371,380 (GRCm38)	missense	probably benign	0.00
R4787:Extl1	UTSW	4	134,364,667 (GRCm38)	missense	probably damaging	1.00
R5210:Extl1	UTSW	4	134,360,584 (GRCm38)	missense	probably benign	0.02
R5776:Extl1	UTSW	4	134,357,772 (GRCm38)	missense	possibly damaging	0.82
R6216:Extl1	UTSW	4	134,363,130 (GRCm38)	missense	probably benign
R6392:Extl1	UTSW	4	134,364,634 (GRCm38)	missense	probably benign	0.44
R6674:Extl1	UTSW	4	134,358,127 (GRCm38)	missense	probably damaging	0.97
R7218:Extl1	UTSW	4	134,359,769 (GRCm38)	missense	probably benign	0.14
R7779:Extl1	UTSW	4	134,360,597 (GRCm38)	missense	probably benign	0.25
R7779:Extl1	UTSW	4	134,357,703 (GRCm38)	missense	probably damaging	1.00
R7795:Extl1	UTSW	4	134,364,679 (GRCm38)	missense	probably damaging	1.00
R7800:Extl1	UTSW	4	134,371,618 (GRCm38)	missense	probably benign	0.10
R8472:Extl1	UTSW	4	134,371,292 (GRCm38)	missense	probably benign
R8977:Extl1	UTSW	4	134,359,124 (GRCm38)	missense	possibly damaging	0.95
R9079:Extl1	UTSW	4	134,362,664 (GRCm38)	missense	probably damaging	1.00
X0020:Extl1	UTSW	4	134,358,021 (GRCm38)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GATACGGGAGCGCTAAATCG -3'
(R):5'- TTCTCCCAGTCTGAGACGAAC -3'

Sequencing Primer
(F):5'- TAAATCGAAGCCCGGTCG -3'
(R):5'- TCTGAGACGAACCCAGAAGATGTC -3'

Posted On

2015-09-25