Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00088:Extl1'

1696

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Extl1

Ensembl Gene

ENSMUSG00000028838

Gene Name

exostosin-like glycosyltransferase 1

Synonyms

D430033M16Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

IGL00088

Quality Score

Status

Chromosome

Chromosomal Location

134083684-134099893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134085330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 596 (K596E)

Ref Sequence

ENSEMBL: ENSMUSP00000030643 (fasta)

Gene Model

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

AlphaFold

Q9JKV7

Predicted Effect

probably damaging
Transcript: ENSMUST00000030643
AA Change: K596E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: K596E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142730

Coding Region Coverage

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	A	G	18: 36,798,512 (GRCm39)		probably benign	Het
Anpep	A	G	7: 79,475,484 (GRCm39)	V879A	possibly damaging	Het
Asb13	T	G	13: 3,693,476 (GRCm39)	V78G	probably null	Het
Atad2b	A	G	12: 5,074,593 (GRCm39)	R1051G	probably damaging	Het
Bdp1	T	C	13: 100,235,018 (GRCm39)	Y192C	probably damaging	Het
C1ql2	G	T	1: 120,269,399 (GRCm39)	G185C	probably damaging	Het
Catsperg2	A	G	7: 29,404,829 (GRCm39)	S745P	possibly damaging	Het
Col19a1	A	T	1: 24,600,387 (GRCm39)	S52T	unknown	Het
Col4a2	G	T	8: 11,493,685 (GRCm39)	G1418V	probably damaging	Het
Crnkl1	C	T	2: 145,760,388 (GRCm39)	D677N	possibly damaging	Het
Cyp2j8	T	A	4: 96,392,079 (GRCm39)	N125I	probably benign	Het
Cyp2t4	A	T	7: 26,854,723 (GRCm39)	M68L	probably benign	Het
Dclk2	T	A	3: 86,706,397 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,308,988 (GRCm39)	D1921G	probably benign	Het
Dnah10	G	A	5: 124,905,667 (GRCm39)	G4104S	probably damaging	Het
Echdc2	T	C	4: 108,036,108 (GRCm39)	I273T	probably damaging	Het
Fads3	A	T	19: 10,029,663 (GRCm39)	D108V	probably null	Het
Fam135b	A	G	15: 71,322,343 (GRCm39)	L1274P	probably damaging	Het
Fat1	T	A	8: 45,477,639 (GRCm39)	H2228Q	possibly damaging	Het
Gcc2	C	T	10: 58,128,502 (GRCm39)	H1341Y	probably damaging	Het
Gls2	A	G	10: 128,036,840 (GRCm39)		probably null	Het
Gpr137	A	C	19: 6,917,072 (GRCm39)	V139G	probably damaging	Het
Ikbke	A	G	1: 131,197,749 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,655,636 (GRCm39)	N285Y	probably benign	Het
Kcnu1	G	A	8: 26,387,884 (GRCm39)	C566Y	probably benign	Het
Klhl29	G	A	12: 5,190,705 (GRCm39)	P97S	probably benign	Het
Lama4	T	C	10: 38,941,591 (GRCm39)		probably benign	Het
Lhx6	G	A	2: 35,981,728 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,723,651 (GRCm39)	L2529P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Naa15	T	A	3: 51,345,826 (GRCm39)	V19D	probably damaging	Het
Ncbp3	A	T	11: 72,964,355 (GRCm39)		probably benign	Het
Nckipsd	G	A	9: 108,692,168 (GRCm39)	V530I	probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Nnmt	A	T	9: 48,503,224 (GRCm39)		probably benign	Het
Nup58	T	A	14: 60,480,026 (GRCm39)	I207L	probably benign	Het
Or14j2	A	T	17: 37,885,808 (GRCm39)	C169S	probably damaging	Het
Or5ae1	T	A	7: 84,565,578 (GRCm39)	M197K	probably damaging	Het
Or5k16	C	T	16: 58,736,213 (GRCm39)	E264K	probably benign	Het
Otud4	T	A	8: 80,399,510 (GRCm39)	N741K	probably damaging	Het
Pard6a	T	A	8: 106,429,833 (GRCm39)	C264S	probably benign	Het
Plch2	T	C	4: 155,091,099 (GRCm39)	N276S	probably damaging	Het
Pramel31	T	A	4: 144,089,100 (GRCm39)	H139Q	possibly damaging	Het
Pramel32	T	A	4: 88,547,307 (GRCm39)	K121N	probably benign	Het
Racgap1	T	C	15: 99,534,003 (GRCm39)		probably benign	Het
Rad51d	T	C	11: 82,780,572 (GRCm39)	D70G	probably damaging	Het
Recql4	C	T	15: 76,591,536 (GRCm39)	A484T	possibly damaging	Het
Reg3g	A	T	6: 78,443,762 (GRCm39)	S149T	probably benign	Het
Rpl13a	C	A	7: 44,776,495 (GRCm39)		probably null	Het
Scn10a	T	C	9: 119,501,292 (GRCm39)	Y164C	probably damaging	Het
Scn2a	A	G	2: 65,594,784 (GRCm39)	I1878V	probably benign	Het
Sgcg	T	A	14: 61,477,796 (GRCm39)	R98*	probably null	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tas2r140	A	T	6: 40,468,274 (GRCm39)	I35F	probably benign	Het
Tex19.2	A	G	11: 121,007,638 (GRCm39)	F270S	possibly damaging	Het
Traip	C	T	9: 107,847,749 (GRCm39)	R391W	probably benign	Het
Trim7	A	G	11: 48,736,398 (GRCm39)	N251D	probably damaging	Het
Trmt2a	T	A	16: 18,067,351 (GRCm39)	V8D	probably benign	Het
Tut7	T	C	13: 59,964,512 (GRCm39)	E221G	probably damaging	Het
Ubr3	A	C	2: 69,819,154 (GRCm39)	I9L	probably benign	Het
Usp42	A	G	5: 143,702,897 (GRCm39)	S575P	probably benign	Het
Vmn2r52	G	T	7: 9,903,023 (GRCm39)	H468Q	probably benign	Het
Vmn2r59	T	A	7: 41,661,488 (GRCm39)	T776S	possibly damaging	Het

Other mutations in Extl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Extl1	APN	4	134,086,514 (GRCm39)	missense	probably benign	0.06
IGL03040:Extl1	APN	4	134,087,940 (GRCm39)	splice site	probably benign
R0165:Extl1	UTSW	4	134,085,014 (GRCm39)	missense	probably damaging	1.00
R0566:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0575:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0941:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0943:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0988:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0989:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R0990:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R1022:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R1035:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R1344:Extl1	UTSW	4	134,086,552 (GRCm39)	missense	probably damaging	0.99
R1495:Extl1	UTSW	4	134,084,988 (GRCm39)	unclassified	probably benign
R1699:Extl1	UTSW	4	134,091,894 (GRCm39)	nonsense	probably null
R1750:Extl1	UTSW	4	134,089,999 (GRCm39)	missense	probably benign	0.00
R1768:Extl1	UTSW	4	134,098,449 (GRCm39)	missense	probably benign
R1883:Extl1	UTSW	4	134,091,917 (GRCm39)	missense	probably benign	0.01
R2143:Extl1	UTSW	4	134,098,355 (GRCm39)	missense	probably benign	0.31
R2144:Extl1	UTSW	4	134,098,355 (GRCm39)	missense	probably benign	0.31
R2155:Extl1	UTSW	4	134,090,491 (GRCm39)	missense	possibly damaging	0.71
R4298:Extl1	UTSW	4	134,084,969 (GRCm39)	missense	probably damaging	1.00
R4605:Extl1	UTSW	4	134,087,145 (GRCm39)	missense	probably benign	0.00
R4606:Extl1	UTSW	4	134,098,691 (GRCm39)	missense	probably benign	0.00
R4606:Extl1	UTSW	4	134,098,690 (GRCm39)	missense	probably damaging	0.99
R4787:Extl1	UTSW	4	134,091,978 (GRCm39)	missense	probably damaging	1.00
R5210:Extl1	UTSW	4	134,087,895 (GRCm39)	missense	probably benign	0.02
R5776:Extl1	UTSW	4	134,085,083 (GRCm39)	missense	possibly damaging	0.82
R6216:Extl1	UTSW	4	134,090,441 (GRCm39)	missense	probably benign
R6392:Extl1	UTSW	4	134,091,945 (GRCm39)	missense	probably benign	0.44
R6674:Extl1	UTSW	4	134,085,438 (GRCm39)	missense	probably damaging	0.97
R7218:Extl1	UTSW	4	134,087,080 (GRCm39)	missense	probably benign	0.14
R7779:Extl1	UTSW	4	134,087,908 (GRCm39)	missense	probably benign	0.25
R7779:Extl1	UTSW	4	134,085,014 (GRCm39)	missense	probably damaging	1.00
R7795:Extl1	UTSW	4	134,091,990 (GRCm39)	missense	probably damaging	1.00
R7800:Extl1	UTSW	4	134,098,929 (GRCm39)	missense	probably benign	0.10
R8472:Extl1	UTSW	4	134,098,603 (GRCm39)	missense	probably benign
R8977:Extl1	UTSW	4	134,086,435 (GRCm39)	missense	possibly damaging	0.95
R9079:Extl1	UTSW	4	134,089,975 (GRCm39)	missense	probably damaging	1.00
X0020:Extl1	UTSW	4	134,085,332 (GRCm39)	splice site	probably null

Posted On

2011-07-12