Incidental Mutation 'IGL01446:Extl3'
ID 84416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Extl3
Ensembl Gene ENSMUSG00000021978
Gene Name exostosin-like glycosyltransferase 3
Synonyms 2900009G18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01446
Quality Score
Status
Chromosome 14
Chromosomal Location 65289509-65387304 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65314529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 218 (F218L)
Ref Sequence ENSEMBL: ENSMUSP00000153547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022550] [ENSMUST00000225633]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000022550
AA Change: F218L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: F218L

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 benign
Transcript: ENSMUST00000225633
AA Change: F218L

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,353,834 (GRCm39) T3719A probably damaging Het
Acaca A G 11: 84,151,457 (GRCm39) K785R probably damaging Het
Acsm3 G A 7: 119,377,677 (GRCm39) V401M probably damaging Het
Aff4 G T 11: 53,306,296 (GRCm39) R1146L probably damaging Het
Alms1 C A 6: 85,673,683 (GRCm39) P3562T probably damaging Het
Arsj A G 3: 126,232,463 (GRCm39) E403G probably benign Het
Baiap2l1 C T 5: 144,212,723 (GRCm39) V431I probably benign Het
Cecr2 T A 6: 120,735,560 (GRCm39) M904K probably benign Het
Cenpe A T 3: 134,943,300 (GRCm39) T775S probably benign Het
Dennd1b G A 1: 138,950,848 (GRCm39) E30K possibly damaging Het
Dnah5 A G 15: 28,326,815 (GRCm39) D2008G probably damaging Het
Dnm2 T C 9: 21,392,672 (GRCm39) V460A probably damaging Het
Ell2 G T 13: 75,910,110 (GRCm39) L285F probably benign Het
Erg A G 16: 95,162,141 (GRCm39) S322P probably damaging Het
Fzd9 T C 5: 135,279,420 (GRCm39) E155G probably damaging Het
Ghr A G 15: 3,362,837 (GRCm39) W212R probably damaging Het
Gulp1 A G 1: 44,783,708 (GRCm39) probably benign Het
Hdgfl2 C T 17: 56,404,281 (GRCm39) R332C possibly damaging Het
Lratd1 A T 12: 14,199,929 (GRCm39) I266N probably damaging Het
Nsd2 T C 5: 34,018,530 (GRCm39) probably benign Het
Or4c12 A G 2: 89,774,282 (GRCm39) F59S probably damaging Het
Or5a3 T C 19: 12,400,165 (GRCm39) I164T possibly damaging Het
Or5b121 C T 19: 13,507,616 (GRCm39) T237I probably benign Het
Phf11b A C 14: 59,578,740 (GRCm39) S9A probably benign Het
Psd4 T C 2: 24,295,407 (GRCm39) S854P probably damaging Het
Reln C T 5: 22,174,315 (GRCm39) D1963N probably damaging Het
Rpe65 T A 3: 159,306,042 (GRCm39) probably benign Het
Sdccag8 T C 1: 176,672,811 (GRCm39) S235P probably damaging Het
Sgip1 G T 4: 102,786,110 (GRCm39) probably null Het
Skint5 G A 4: 113,800,019 (GRCm39) P36L probably damaging Het
Slc26a3 G T 12: 31,502,490 (GRCm39) probably benign Het
Snx13 T A 12: 35,174,479 (GRCm39) C669* probably null Het
Svil A T 18: 5,062,385 (GRCm39) T902S probably damaging Het
Syne2 T C 12: 76,088,149 (GRCm39) S4989P probably damaging Het
Ttn G A 2: 76,640,283 (GRCm39) T13775M probably damaging Het
Ubr4 T C 4: 139,165,351 (GRCm39) probably benign Het
Ush1c C T 7: 45,858,380 (GRCm39) R636H possibly damaging Het
Usp17lc A T 7: 103,067,651 (GRCm39) R315S probably benign Het
Vmn1r236 T A 17: 21,506,918 (GRCm39) V12D probably benign Het
Wsb2 T G 5: 117,509,229 (GRCm39) I170S probably damaging Het
Zfp800 G A 6: 28,242,983 (GRCm39) L661F possibly damaging Het
Other mutations in Extl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Extl3 APN 14 65,314,438 (GRCm39) missense probably benign 0.08
IGL00329:Extl3 APN 14 65,313,070 (GRCm39) missense probably benign 0.03
IGL00959:Extl3 APN 14 65,314,361 (GRCm39) missense probably benign 0.01
IGL01321:Extl3 APN 14 65,304,211 (GRCm39) missense probably benign
IGL01443:Extl3 APN 14 65,314,919 (GRCm39) missense probably damaging 1.00
IGL01517:Extl3 APN 14 65,314,156 (GRCm39) missense probably damaging 1.00
IGL01955:Extl3 APN 14 65,313,415 (GRCm39) missense probably benign
IGL02073:Extl3 APN 14 65,313,788 (GRCm39) missense probably damaging 1.00
IGL02188:Extl3 APN 14 65,313,154 (GRCm39) missense probably damaging 1.00
IGL02269:Extl3 APN 14 65,315,032 (GRCm39) missense probably damaging 1.00
IGL02476:Extl3 APN 14 65,314,693 (GRCm39) missense probably benign 0.05
IGL02961:Extl3 APN 14 65,294,408 (GRCm39) missense possibly damaging 0.94
G1Funyon:Extl3 UTSW 14 65,313,733 (GRCm39) missense probably damaging 0.98
R0532:Extl3 UTSW 14 65,315,122 (GRCm39) missense probably benign 0.06
R0580:Extl3 UTSW 14 65,313,178 (GRCm39) missense probably damaging 1.00
R1395:Extl3 UTSW 14 65,314,945 (GRCm39) missense possibly damaging 0.95
R1495:Extl3 UTSW 14 65,313,316 (GRCm39) missense probably benign 0.01
R1916:Extl3 UTSW 14 65,315,071 (GRCm39) missense probably benign 0.20
R2409:Extl3 UTSW 14 65,315,017 (GRCm39) missense probably benign 0.02
R2484:Extl3 UTSW 14 65,313,184 (GRCm39) missense probably damaging 1.00
R4669:Extl3 UTSW 14 65,313,745 (GRCm39) missense possibly damaging 0.56
R4764:Extl3 UTSW 14 65,314,769 (GRCm39) missense probably benign 0.01
R4845:Extl3 UTSW 14 65,315,024 (GRCm39) missense probably benign 0.13
R4858:Extl3 UTSW 14 65,313,443 (GRCm39) missense probably benign 0.05
R5049:Extl3 UTSW 14 65,313,481 (GRCm39) missense probably benign 0.00
R5439:Extl3 UTSW 14 65,292,075 (GRCm39) missense probably damaging 1.00
R6196:Extl3 UTSW 14 65,313,584 (GRCm39) missense probably benign
R6251:Extl3 UTSW 14 65,314,375 (GRCm39) missense probably damaging 1.00
R6299:Extl3 UTSW 14 65,314,121 (GRCm39) missense probably benign
R6807:Extl3 UTSW 14 65,314,211 (GRCm39) missense probably damaging 1.00
R6939:Extl3 UTSW 14 65,304,189 (GRCm39) missense possibly damaging 0.93
R6975:Extl3 UTSW 14 65,304,246 (GRCm39) missense probably benign 0.01
R7474:Extl3 UTSW 14 65,314,090 (GRCm39) missense possibly damaging 0.87
R7846:Extl3 UTSW 14 65,313,181 (GRCm39) missense probably damaging 1.00
R7860:Extl3 UTSW 14 65,314,938 (GRCm39) missense probably benign 0.02
R8301:Extl3 UTSW 14 65,313,733 (GRCm39) missense probably damaging 0.98
R8922:Extl3 UTSW 14 65,292,255 (GRCm39) missense probably damaging 1.00
R9329:Extl3 UTSW 14 65,314,765 (GRCm39) missense possibly damaging 0.92
R9634:Extl3 UTSW 14 65,314,919 (GRCm39) missense probably damaging 1.00
R9703:Extl3 UTSW 14 65,292,103 (GRCm39) missense probably damaging 1.00
R9801:Extl3 UTSW 14 65,314,782 (GRCm39) missense probably benign 0.12
Posted On 2013-11-11