Incidental Mutation 'R1495:Extl3'
ID168807
Institutional Source Beutler Lab
Gene Symbol Extl3
Ensembl Gene ENSMUSG00000021978
Gene Nameexostoses (multiple)-like 3
Synonyms2900009G18Rik
MMRRC Submission 039546-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1495 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location65052060-65149855 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65075867 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 622 (V622E)
Ref Sequence ENSEMBL: ENSMUSP00000153547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022550] [ENSMUST00000225633]
Predicted Effect probably benign
Transcript: ENSMUST00000022550
AA Change: V622E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: V622E

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: V622E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,477,820 N488S probably benign Het
A430105I19Rik T G 2: 118,760,532 K173N probably damaging Het
Acot10 G A 15: 20,665,507 R383C probably damaging Het
Acsm2 A G 7: 119,578,126 D263G probably damaging Het
Adcy2 G T 13: 68,796,535 Q243K probably benign Het
Aggf1 G A 13: 95,356,413 R563* probably null Het
Agt A G 8: 124,559,455 F296S probably damaging Het
Akap14 T C X: 37,163,965 D39G possibly damaging Het
Akt3 T C 1: 177,103,042 M117V probably benign Het
Ankar T C 1: 72,643,291 T1154A probably benign Het
Arvcf T A 16: 18,389,386 L70Q probably damaging Het
Ccdc171 A T 4: 83,681,095 K724* probably null Het
Ccdc91 A G 6: 147,534,172 T85A possibly damaging Het
Cdh3 C T 8: 106,538,997 T224I probably damaging Het
Clstn3 T C 6: 124,449,917 I482V probably benign Het
Cnot9 A G 1: 74,523,600 E176G probably damaging Het
Cntnap4 T G 8: 112,881,763 L1272V possibly damaging Het
Cyb5a T A 18: 84,851,480 M1K probably null Het
Cyp2c23 A G 19: 44,005,508 I473T probably benign Het
Dbil5 T A 11: 76,218,450 M60K probably benign Het
Dgkg A T 16: 22,500,379 L644Q probably damaging Het
Disp3 T C 4: 148,249,825 I1004V probably benign Het
Egf T A 3: 129,713,006 I599F probably damaging Het
Epc2 A G 2: 49,536,663 T145A probably damaging Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,357,677 probably benign Het
Fam227a C T 15: 79,626,245 V403I probably benign Het
Fat2 T A 11: 55,262,673 D3571V probably benign Het
Fcho2 A G 13: 98,749,850 probably null Het
Fras1 A G 5: 96,528,586 N64S possibly damaging Het
Gabbr1 A G 17: 37,055,940 N352S possibly damaging Het
Gabra1 T C 11: 42,154,944 N113S probably damaging Het
Glg1 T C 8: 111,197,675 Y227C probably damaging Het
Gm14851 T A 8: 21,095,201 Q75L probably benign Het
Gm5141 A T 13: 62,774,270 C362S probably damaging Het
Gprc6a T A 10: 51,628,437 T104S probably benign Het
Jph1 A C 1: 17,091,652 V262G probably benign Het
Kank1 C G 19: 25,410,349 T434R probably damaging Het
Kmt2e A G 5: 23,499,327 S1173G possibly damaging Het
Krt75 G A 15: 101,573,873 probably benign Het
Lyzl1 G T 18: 4,181,192 W77L probably null Het
Nipbl T G 15: 8,351,280 N676T probably benign Het
Obscn C T 11: 59,080,160 S2300N probably damaging Het
Olfr459 T G 6: 41,771,903 Y132S probably damaging Het
Osbpl1a T A 18: 12,758,839 M350L probably benign Het
Pecam1 T C 11: 106,688,856 D460G probably damaging Het
Pik3c2a T A 7: 116,388,065 K540N probably benign Het
Prdm12 T A 2: 31,640,193 I32N probably damaging Het
Prkd1 T C 12: 50,366,352 S679G probably damaging Het
Psen2 C T 1: 180,228,854 A393T probably damaging Het
Ptprh T A 7: 4,580,889 T235S probably benign Het
Ranbp3 C T 17: 56,705,527 P182L probably benign Het
Serpinb7 A T 1: 107,451,660 K266* probably null Het
Sesn3 T C 9: 14,308,521 S69P probably damaging Het
Slc12a6 T C 2: 112,354,190 M818T probably damaging Het
Slc25a53 C A X: 137,015,335 C4F unknown Het
Snx1 T A 9: 66,096,597 L255F probably benign Het
Sptbn2 T G 19: 4,718,976 S46A possibly damaging Het
Taf4 A G 2: 179,933,027 F595S probably damaging Het
Tec A T 5: 72,786,755 V103E probably damaging Het
Tmco5b T C 2: 113,290,791 S147P possibly damaging Het
Uchl5 C T 1: 143,799,937 T93I possibly damaging Het
Usp14 A T 18: 10,004,994 S225T probably benign Het
Usp45 C A 4: 21,797,385 Q238K possibly damaging Het
Vmn1r6 T A 6: 57,003,073 M218K possibly damaging Het
Zfp84 T A 7: 29,777,303 Y473* probably null Het
Zyg11b G A 4: 108,266,213 P186S 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
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
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
Predicted Primers PCR Primer
(F):5'- CATGATGGGGACACCAATGTCTGG -3'
(R):5'- AACATGGCTGACAATGGGGACC -3'

Sequencing Primer
(F):5'- AGCTTGGGAGAGTTCCACAC -3'
(R):5'- CTGACAATGGGGACCTGGAC -3'
Posted On2014-04-13