Incidental Mutation 'R6939:Extl3'
ID 540460
Institutional Source Beutler Lab
Gene Symbol Extl3
Ensembl Gene ENSMUSG00000021978
Gene Name exostosin-like glycosyltransferase 3
Synonyms 2900009G18Rik
MMRRC Submission 045053-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6939 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 65289509-65387304 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65304189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 740 (I740T)
Ref Sequence ENSEMBL: ENSMUSP00000153547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022550] [ENSMUST00000225633]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000022550
AA Change: I740T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022550
Gene: ENSMUSG00000021978
AA Change: I740T

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 possibly damaging
Transcript: ENSMUST00000225633
AA Change: I740T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Meta Mutation Damage Score 0.9160 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 99% (66/67)
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
A1bg G A 15: 60,792,244 (GRCm39) P128L probably damaging Het
Acsm3 T C 7: 119,377,678 (GRCm39) V401A probably damaging Het
Arhgef11 C A 3: 87,594,227 (GRCm39) N93K probably damaging Het
C1ra G A 6: 124,489,760 (GRCm39) probably null Het
Camk2a A G 18: 61,091,226 (GRCm39) E236G probably damaging Het
Cav2 C A 6: 17,281,410 (GRCm39) D17E possibly damaging Het
Ccdc149 T C 5: 52,533,607 (GRCm39) S520G probably benign Het
Chd4 C A 6: 125,083,501 (GRCm39) H674Q probably damaging Het
Clrn2 A T 5: 45,611,096 (GRCm39) probably benign Het
Cntnap1 A C 11: 101,077,337 (GRCm39) I1000L probably damaging Het
Cyp2c67 T C 19: 39,631,778 (GRCm39) T140A possibly damaging Het
D7Ertd443e T C 7: 133,966,208 (GRCm39) probably null Het
Dcdc2c G T 12: 28,591,496 (GRCm39) Q131K probably benign Het
Dmpk T A 7: 18,822,149 (GRCm39) V369E probably damaging Het
Dnah11 A T 12: 118,070,297 (GRCm39) W1503R probably damaging Het
Dnai7 A G 6: 145,120,945 (GRCm39) F625L possibly damaging Het
Dok2 T C 14: 71,013,045 (GRCm39) V71A probably benign Het
Dqx1 A T 6: 83,036,446 (GRCm39) Q150L probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat2 C T 11: 55,143,300 (GRCm39) W4183* probably null Het
Fkrp C T 7: 16,545,751 (GRCm39) R37Q probably benign Het
Frem3 A G 8: 81,341,774 (GRCm39) K1356E probably benign Het
Fus A T 7: 127,571,741 (GRCm39) probably benign Het
Gabarapl2 C A 8: 112,669,201 (GRCm39) S53* probably null Het
Gjd3 A C 11: 102,691,733 (GRCm39) M90R probably damaging Het
Gm30083 C T 14: 33,725,557 (GRCm39) probably null Het
Gm7356 T A 17: 14,221,387 (GRCm39) Y214F probably benign Het
Hexd A T 11: 121,113,164 (GRCm39) D533V probably benign Het
Ift172 G A 5: 31,414,930 (GRCm39) A1364V probably damaging Het
Ighmbp2 A T 19: 3,326,907 (GRCm39) F186Y probably damaging Het
Inpp5e C A 2: 26,297,774 (GRCm39) probably null Het
Iqcb1 A G 16: 36,660,274 (GRCm39) T146A possibly damaging Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm6b A G 11: 69,297,588 (GRCm39) W284R probably damaging Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Ksr2 T A 5: 117,903,626 (GRCm39) *952R probably null Het
Ldlrap1 C A 4: 134,495,285 (GRCm39) probably benign Het
Mpdu1 G A 11: 69,548,881 (GRCm39) probably benign Het
Mrgprh A T 17: 13,095,822 (GRCm39) T21S probably benign Het
Muc16 T A 9: 18,549,833 (GRCm39) T5487S probably benign Het
Mydgf A G 17: 56,490,737 (GRCm39) probably null Het
Napa T C 7: 15,849,182 (GRCm39) C241R possibly damaging Het
Or10ab4 C A 7: 107,654,312 (GRCm39) A41E possibly damaging Het
Or10n7-ps1 T C 9: 39,598,187 (GRCm39) T18A possibly damaging Het
Or5k17 A T 16: 58,746,648 (GRCm39) Y95* probably null Het
Pla2g4f A T 2: 120,137,782 (GRCm39) L326Q probably damaging Het
Pramel16 T C 4: 143,675,366 (GRCm39) T487A probably benign Het
Psme4 T A 11: 30,787,291 (GRCm39) Y1029N probably damaging Het
Ptprj T C 2: 90,289,858 (GRCm39) T707A possibly damaging Het
Raet1e T A 10: 22,050,256 (GRCm39) M13K possibly damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Rmi1 A G 13: 58,557,169 (GRCm39) I473V probably benign Het
Rps6ka4 A G 19: 6,815,437 (GRCm39) F186L probably damaging Het
Ryr1 T A 7: 28,751,751 (GRCm39) M3672L possibly damaging Het
Smarca5 A T 8: 81,431,949 (GRCm39) C890S possibly damaging Het
Spata31d1e T A 13: 59,889,872 (GRCm39) K231N possibly damaging Het
Tdrd12 C T 7: 35,185,024 (GRCm39) probably null Het
Tecta T C 9: 42,259,293 (GRCm39) N1530S probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmem94 A G 11: 115,676,656 (GRCm39) S54G possibly damaging Het
Tnk2 T C 16: 32,482,696 (GRCm39) V41A probably damaging Het
Trpm1 A G 7: 63,918,045 (GRCm39) T462A probably benign Het
Tsg101 T C 7: 46,556,847 (GRCm39) T61A probably benign Het
Usp42 T C 5: 143,713,724 (GRCm39) N17D probably damaging Het
Zfp607a T A 7: 27,578,473 (GRCm39) C514* probably null Het
Zfp866 G T 8: 70,218,871 (GRCm39) Q250K probably 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
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
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
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'- AAGCACTGAAACCTGGGACC -3'
(R):5'- CGTGCTAGATGTCAAAAGCAAG -3'

Sequencing Primer
(F):5'- TGATGCCCTCACAGCTCAGAG -3'
(R):5'- CCAGCTGTTGGTAAGATTG -3'
Posted On 2018-11-06