Incidental Mutation 'R0532:Extl3'
ID 49279
Institutional Source Beutler Lab
Gene Symbol Extl3
Ensembl Gene ENSMUSG00000021978
Gene Name exostosin-like glycosyltransferase 3
Synonyms 2900009G18Rik
MMRRC Submission 038724-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0532 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 65289509-65387304 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65315122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 20 (M20K)
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: M20K

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: M20K

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: M20K

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
Meta Mutation Damage Score 0.1474 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (90/90)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,638,618 (GRCm39) E339V possibly damaging Het
9230009I02Rik A T 11: 50,982,405 (GRCm39) noncoding transcript Het
9230112D13Rik A T 14: 34,234,054 (GRCm39) I79K unknown Het
Adam25 C T 8: 41,208,987 (GRCm39) T751I probably benign Het
Adgrv1 C A 13: 81,727,015 (GRCm39) V446L probably damaging Het
Afap1 C A 5: 36,125,944 (GRCm39) A313D possibly damaging Het
Akap6 A G 12: 52,934,766 (GRCm39) T753A probably benign Het
Aldh16a1 G T 7: 44,792,262 (GRCm39) T730N probably damaging Het
Amfr A T 8: 94,725,736 (GRCm39) M215K probably damaging Het
Apob A G 12: 8,066,188 (GRCm39) R4386G possibly damaging Het
Arhgap45 A T 10: 79,857,917 (GRCm39) M217L possibly damaging Het
Baiap2l2 C T 15: 79,168,276 (GRCm39) E49K possibly damaging Het
Baz1a C T 12: 54,981,605 (GRCm39) E350K possibly damaging Het
Bbx A T 16: 50,086,647 (GRCm39) V83D probably damaging Het
Btaf1 T C 19: 36,928,586 (GRCm39) probably benign Het
Cacna2d1 G A 5: 16,567,271 (GRCm39) E942K probably benign Het
Cad T C 5: 31,219,531 (GRCm39) probably benign Het
Ccdc96 A G 5: 36,643,710 (GRCm39) K572R probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cep164 G A 9: 45,721,124 (GRCm39) R93* probably null Het
Cir1 A G 2: 73,140,799 (GRCm39) probably null Het
Crocc A G 4: 140,757,558 (GRCm39) S912P possibly damaging Het
Cwf19l2 T C 9: 3,431,057 (GRCm39) L463P probably benign Het
Cyp3a59 C T 5: 146,033,463 (GRCm39) Q200* probably null Het
Cyp4b1 G T 4: 115,484,073 (GRCm39) P303T probably damaging Het
Dcbld1 C A 10: 52,193,173 (GRCm39) T306K probably benign Het
Dgat2 A G 7: 98,818,988 (GRCm39) V56A possibly damaging Het
Dnajc16 A C 4: 141,516,320 (GRCm39) L16R probably damaging Het
Dnmt1 A C 9: 20,829,852 (GRCm39) probably benign Het
Dus3l A G 17: 57,076,308 (GRCm39) I528V probably damaging Het
Egflam T C 15: 7,263,718 (GRCm39) D744G probably benign Het
Epb41 A C 4: 131,706,106 (GRCm39) probably benign Het
Eri2 C T 7: 119,385,206 (GRCm39) V432I probably benign Het
Esyt2 A G 12: 116,320,818 (GRCm39) probably benign Het
Fam32a A G 8: 72,976,063 (GRCm39) Y103C probably damaging Het
Fat4 T C 3: 39,035,870 (GRCm39) V3174A probably benign Het
Fbxo40 T A 16: 36,789,984 (GRCm39) E375D possibly damaging Het
Frrs1 A G 3: 116,676,813 (GRCm39) T182A probably benign Het
Fry A G 5: 150,357,172 (GRCm39) probably benign Het
Fry T C 5: 150,402,226 (GRCm39) probably benign Het
Fsip2 A G 2: 82,808,129 (GRCm39) I1483V probably benign Het
Glra3 T A 8: 56,578,111 (GRCm39) D389E probably benign Het
Gpr3 A T 4: 132,937,796 (GRCm39) I292N probably damaging Het
Grina T C 15: 76,133,045 (GRCm39) M230T probably damaging Het
Igkv11-125 G A 6: 67,890,603 (GRCm39) W16* probably null Het
Il18r1 T C 1: 40,514,061 (GRCm39) V89A probably damaging Het
Ino80 T C 2: 119,212,464 (GRCm39) E1286G possibly damaging Het
Iqch G A 9: 63,415,514 (GRCm39) probably benign Het
Itpr2 G T 6: 146,013,898 (GRCm39) Q2666K probably damaging Het
Kcnh3 A G 15: 99,130,844 (GRCm39) D487G probably damaging Het
Kdm1a A G 4: 136,288,377 (GRCm39) L402P probably damaging Het
Klhl10 T G 11: 100,337,937 (GRCm39) probably benign Het
Krt39 T C 11: 99,405,617 (GRCm39) T428A possibly damaging Het
Mapk3 G A 7: 126,362,558 (GRCm39) probably benign Het
Med13l T A 5: 118,897,188 (GRCm39) S2089T possibly damaging Het
Mex3c G A 18: 73,723,124 (GRCm39) D406N possibly damaging Het
Mki67 G A 7: 135,299,893 (GRCm39) R1714* probably null Het
Mmp9 C A 2: 164,791,740 (GRCm39) S211* probably null Het
Nat8f2 G T 6: 85,844,784 (GRCm39) Q193K probably benign Het
Omt2a C A 9: 78,220,187 (GRCm39) A71S possibly damaging Het
Or10ak11 T G 4: 118,686,897 (GRCm39) T247P probably damaging Het
Or5ac22 T C 16: 59,134,964 (GRCm39) K269E probably benign Het
Pdgfra G A 5: 75,331,434 (GRCm39) V315I probably benign Het
Pdgfrb A G 18: 61,216,337 (GRCm39) D1065G probably damaging Het
Pfas A T 11: 68,893,455 (GRCm39) probably benign Het
Pramel5 T C 4: 143,999,310 (GRCm39) E259G probably benign Het
Prpf6 A G 2: 181,264,004 (GRCm39) Y222C possibly damaging Het
Rbck1 C A 2: 152,166,250 (GRCm39) Q229H probably damaging Het
Rdm1 T A 11: 101,526,661 (GRCm39) C278S probably benign Het
Sall1 T C 8: 89,759,819 (GRCm39) D95G probably benign Het
Scn1a T A 2: 66,148,167 (GRCm39) D1126V probably damaging Het
Scn4a C T 11: 106,221,226 (GRCm39) G811D probably benign Het
Sh2b1 A G 7: 126,071,444 (GRCm39) I247T probably benign Het
Shprh C A 10: 11,038,556 (GRCm39) T437K possibly damaging Het
Slc13a4 A T 6: 35,264,339 (GRCm39) probably null Het
Slc16a1 C A 3: 104,560,734 (GRCm39) Y346* probably null Het
Slc25a38 G T 9: 119,949,772 (GRCm39) A163S probably damaging Het
Slc6a12 G A 6: 121,333,877 (GRCm39) V238I probably damaging Het
Slc8b1 C A 5: 120,657,736 (GRCm39) D66E probably damaging Het
Snapin A G 3: 90,396,893 (GRCm39) L106P probably damaging Het
Tas2r122 G A 6: 132,688,791 (GRCm39) S34F possibly damaging Het
Tiam2 A G 17: 3,471,921 (GRCm39) K521R probably damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Ttc3 T C 16: 94,188,189 (GRCm39) probably benign Het
Uba1y T C Y: 820,911 (GRCm39) F31L probably benign Het
Ucp3 A G 7: 100,131,186 (GRCm39) probably benign Het
Vcan T C 13: 89,851,891 (GRCm39) E1023G probably damaging Het
Vmn2r45 A G 7: 8,474,820 (GRCm39) I736T probably damaging Het
Vps36 T C 8: 22,708,261 (GRCm39) F342L probably benign Het
Zc3hc1 A G 6: 30,374,929 (GRCm39) probably benign Het
Zmym4 G A 4: 126,792,194 (GRCm39) Q596* probably null 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
IGL01446:Extl3 APN 14 65,314,529 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GAAGCTCTTCGCTCACAGACTCAC -3'
(R):5'- GGAGCACACTGATCCTTCCAGAAAC -3'

Sequencing Primer
(F):5'- AGATCGAGGACGTGCTTTACC -3'
(R):5'- GATCCTTCCAGAAACTTGTGTG -3'
Posted On 2013-06-12