Incidental Mutation 'IGL01443:Extl3'
ID84318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Extl3
Ensembl Gene ENSMUSG00000021978
Gene Nameexostoses (multiple)-like 3
Synonyms2900009G18Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01443
Quality Score
Status
Chromosome14
Chromosomal Location65052060-65149855 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65077470 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 88 (S88T)
Ref Sequence ENSEMBL: ENSMUSP00000153547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022550] [ENSMUST00000225633]
Predicted Effect probably damaging
Transcript: ENSMUST00000022550
AA Change: S88T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: S88T

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
coiled coil region 81 150 N/A INTRINSIC
Pfam:Exostosin 190 500 1.6e-60 PFAM
Pfam:Glyco_transf_64 663 904 1.3e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223989
Predicted Effect probably damaging
Transcript: ENSMUST00000225633
AA Change: S88T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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 encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis and lack heparan sulfate derived disaccharides. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik A G 5: 15,652,644 *212Q probably null Het
Adamts2 A G 11: 50,803,863 E1159G possibly damaging Het
Adgrl3 A G 5: 81,465,287 Y189C probably damaging Het
AW554918 G A 18: 25,344,955 G446R probably damaging Het
Baiap3 A G 17: 25,245,147 F884S possibly damaging Het
Cd101 T C 3: 101,003,571 T924A probably benign Het
Cdk12 T A 11: 98,245,469 V1183E unknown Het
Clcc1 T C 3: 108,670,903 M240T probably benign Het
Dnmbp C A 19: 43,902,870 A153S probably damaging Het
Dus4l T C 12: 31,652,410 probably benign Het
Dyrk1a A G 16: 94,685,084 E430G probably benign Het
Erc1 T C 6: 119,824,471 K195R probably damaging Het
Evpl T C 11: 116,222,454 E1470G probably damaging Het
Fam135b A T 15: 71,463,364 H660Q probably benign Het
Fat1 G A 8: 45,040,576 G3920S probably damaging Het
Fbxo38 A G 18: 62,533,670 V144A probably damaging Het
Grwd1 C T 7: 45,830,410 probably null Het
Hdlbp T C 1: 93,431,074 T252A probably damaging Het
Igkv3-1 A G 6: 70,704,104 S96G possibly damaging Het
Igkv4-68 G T 6: 69,304,937 F83L probably damaging Het
Klhl31 T C 9: 77,650,260 V86A possibly damaging Het
Lypd3 G A 7: 24,636,638 G17R probably benign Het
Manba T A 3: 135,544,828 D405E probably damaging Het
Map3k19 A G 1: 127,838,507 S227P probably benign Het
Nras T A 3: 103,062,435 C118S probably benign Het
Olfr659 A G 7: 104,671,071 D123G probably damaging Het
Pde8a T C 7: 81,324,181 F629L probably damaging Het
Phtf2 A G 5: 20,782,267 probably benign Het
Pik3c2a A T 7: 116,418,194 F109L probably benign Het
Plod3 G A 5: 136,990,221 R320H probably benign Het
Ppib T C 9: 66,065,597 F152L probably damaging Het
Rbm19 T C 5: 120,143,438 probably benign Het
Rgs12 T A 5: 34,975,219 S628R probably benign Het
Ripk1 A G 13: 34,015,268 D201G probably damaging Het
St14 G T 9: 31,100,193 S434* probably null Het
Tbc1d9 A G 8: 83,239,931 D387G probably damaging Het
Trio A G 15: 27,838,775 probably benign Het
Ttn G A 2: 76,713,871 R32924C probably damaging Het
Vmn1r181 T C 7: 23,984,581 V157A possibly damaging Het
Zfp473 C T 7: 44,739,563 D45N probably damaging Het
Other mutations in Extl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Extl3 APN 14 65076989 missense probably benign 0.08
IGL00329:Extl3 APN 14 65075621 missense probably benign 0.03
IGL00959:Extl3 APN 14 65076912 missense probably benign 0.01
IGL01321:Extl3 APN 14 65066762 missense probably benign
IGL01446:Extl3 APN 14 65077080 missense probably benign
IGL01517:Extl3 APN 14 65076707 missense probably damaging 1.00
IGL01955:Extl3 APN 14 65075966 missense probably benign
IGL02073:Extl3 APN 14 65076339 missense probably damaging 1.00
IGL02188:Extl3 APN 14 65075705 missense probably damaging 1.00
IGL02269:Extl3 APN 14 65077583 missense probably damaging 1.00
IGL02476:Extl3 APN 14 65077244 missense probably benign 0.05
IGL02961:Extl3 APN 14 65056959 missense possibly damaging 0.94
G1Funyon:Extl3 UTSW 14 65076284 missense probably damaging 0.98
R0532:Extl3 UTSW 14 65077673 missense probably benign 0.06
R0580:Extl3 UTSW 14 65075729 missense probably damaging 1.00
R1395:Extl3 UTSW 14 65077496 missense possibly damaging 0.95
R1495:Extl3 UTSW 14 65075867 missense probably benign 0.01
R1916:Extl3 UTSW 14 65077622 missense probably benign 0.20
R2409:Extl3 UTSW 14 65077568 missense probably benign 0.02
R2484:Extl3 UTSW 14 65075735 missense probably damaging 1.00
R4669:Extl3 UTSW 14 65076296 missense possibly damaging 0.56
R4764:Extl3 UTSW 14 65077320 missense probably benign 0.01
R4845:Extl3 UTSW 14 65077575 missense probably benign 0.13
R4858:Extl3 UTSW 14 65075994 missense probably benign 0.05
R5049:Extl3 UTSW 14 65076032 missense probably benign 0.00
R5439:Extl3 UTSW 14 65054626 missense probably damaging 1.00
R6196:Extl3 UTSW 14 65076135 missense probably benign
R6251:Extl3 UTSW 14 65076926 missense probably damaging 1.00
R6299:Extl3 UTSW 14 65076672 missense probably benign
R6807:Extl3 UTSW 14 65076762 missense probably damaging 1.00
R6939:Extl3 UTSW 14 65066740 missense possibly damaging 0.93
R6975:Extl3 UTSW 14 65066797 missense probably benign 0.01
R7474:Extl3 UTSW 14 65076641 missense possibly damaging 0.87
R7846:Extl3 UTSW 14 65075732 missense probably damaging 1.00
R7860:Extl3 UTSW 14 65077489 missense probably benign 0.02
R8301:Extl3 UTSW 14 65076284 missense probably damaging 0.98
R8922:Extl3 UTSW 14 65054806 missense probably damaging 1.00
Posted On2013-11-11