Incidental Mutation 'IGL01321:Extl3'
ID74049
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 #IGL01321
Quality Score
Status
Chromosome14
Chromosomal Location65052060-65149855 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 65066762 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 733 (N733D)
Ref Sequence ENSEMBL: ENSMUSP00000153547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022550] [ENSMUST00000225633]
Predicted Effect probably benign
Transcript: ENSMUST00000022550
AA Change: N733D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: N733D

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 probably benign
Transcript: ENSMUST00000225633
AA Change: N733D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,685,843 V76D probably damaging Het
Acnat2 A G 4: 49,380,269 S370P probably damaging Het
Adamts5 T C 16: 85,899,475 R265G probably benign Het
Cd2ap T C 17: 42,845,389 S86G possibly damaging Het
Cers3 A C 7: 66,786,003 probably benign Het
Dnaaf2 G T 12: 69,196,602 P562T probably damaging Het
Dnajc21 A C 15: 10,447,102 V520G probably benign Het
Dpcr1 A T 17: 35,636,866 N490K probably damaging Het
Dync1h1 A G 12: 110,625,607 probably benign Het
Gm5499 T A 17: 87,078,500 noncoding transcript Het
Gstm6 T C 3: 107,941,063 Q180R probably benign Het
Hdlbp G A 1: 93,423,802 R460W probably damaging Het
Ift81 T C 5: 122,610,968 D40G probably damaging Het
Igsf3 T A 3: 101,427,022 probably benign Het
Kcnb2 A G 1: 15,312,923 T158A probably benign Het
Lrrc59 C T 11: 94,638,600 R167* probably null Het
Macf1 A G 4: 123,440,774 C4397R probably damaging Het
Morc1 T C 16: 48,582,462 S583P probably benign Het
Nipsnap2 T A 5: 129,757,141 *282R probably null Het
Olfr1160 A T 2: 88,006,245 C178S probably damaging Het
Olfr703 T C 7: 106,844,749 L46P probably damaging Het
Parp14 T A 16: 35,856,559 Q1013L probably benign Het
Pdzd8 A C 19: 59,301,529 S480A probably benign Het
Piezo1 A T 8: 122,487,600 S1609R probably damaging Het
Pkp4 G A 2: 59,350,627 probably null Het
Plpp2 A T 10: 79,527,493 V106D probably damaging Het
Rimbp2 T C 5: 128,786,752 Y724C probably benign Het
Rpgrip1l A T 8: 91,260,873 L852* probably null Het
Samd9l T A 6: 3,376,259 D334V probably benign Het
Sipa1l2 G A 8: 125,491,518 T360M probably damaging Het
Slc30a2 A T 4: 134,343,300 D5V probably damaging Het
Spata31 T C 13: 64,921,754 I572T probably benign Het
Tma16 G A 8: 66,476,860 L161F probably benign Het
Trim69 A T 2: 122,173,284 E238V possibly damaging Het
Zfhx4 A G 3: 5,242,328 T205A probably benign 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
IGL01443:Extl3 APN 14 65077470 missense probably damaging 1.00
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
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
R7929:Extl3 UTSW 14 65075732 missense probably damaging 1.00
R7943:Extl3 UTSW 14 65077489 missense probably benign 0.02
Posted On2013-10-07