Incidental Mutation 'R1699:Extl1'
ID 192496
Institutional Source Beutler Lab
Gene Symbol Extl1
Ensembl Gene ENSMUSG00000028838
Gene Name exostosin-like glycosyltransferase 1
Synonyms D430033M16Rik
MMRRC Submission 039732-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R1699 (G1)
Quality Score 196
Status Not validated
Chromosome 4
Chromosomal Location 134083684-134099893 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 134091894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 320 (Q320*)
Ref Sequence ENSEMBL: ENSMUSP00000030643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030643]
AlphaFold Q9JKV7
Predicted Effect probably null
Transcript: ENSMUST00000030643
AA Change: Q320*
SMART Domains Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: Q320*

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Exostosin 87 329 2.1e-38 PFAM
Pfam:Glyco_transf_64 412 652 1.7e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142730
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 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 is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,337,363 (GRCm39) E2406G possibly damaging Het
Adam6b T A 12: 113,454,205 (GRCm39) F341I probably benign Het
Adam8 A T 7: 139,563,224 (GRCm39) N767K possibly damaging Het
Aig1 T C 10: 13,744,366 (GRCm39) D46G possibly damaging Het
Alms1 A G 6: 85,599,862 (GRCm39) I2032V possibly damaging Het
Ankrd16 A G 2: 11,789,204 (GRCm39) I264V probably benign Het
Areg T G 5: 91,291,357 (GRCm39) V100G probably damaging Het
Bcan A G 3: 87,896,543 (GRCm39) Y718H probably damaging Het
Brsk2 T A 7: 141,539,200 (GRCm39) I188N probably damaging Het
Cdt1 T C 8: 123,296,722 (GRCm39) Y203H probably damaging Het
Cfap119 A T 7: 127,186,028 (GRCm39) probably null Het
Chil3 A C 3: 106,067,682 (GRCm39) probably null Het
Ciao2b A G 8: 105,366,718 (GRCm39) V132A probably damaging Het
Cimip2c A G 5: 30,641,210 (GRCm39) probably null Het
Cth A G 3: 157,613,073 (GRCm39) L253P probably damaging Het
Cyp11b1 A G 15: 74,712,666 (GRCm39) F132L possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah11 A G 12: 118,154,603 (GRCm39) S226P probably damaging Het
Egfr A T 11: 16,809,019 (GRCm39) Q71L probably benign Het
Eml6 T A 11: 29,696,282 (GRCm39) K1940* probably null Het
Epn2 T A 11: 61,414,014 (GRCm39) K391* probably null Het
Erich1 A T 8: 14,140,259 (GRCm39) S2T possibly damaging Het
Evi5 A C 5: 107,966,786 (GRCm39) L245R probably damaging Het
Evpl T C 11: 116,118,414 (GRCm39) Y731C probably damaging Het
Exoc3l G A 8: 106,021,645 (GRCm39) H128Y probably benign Het
Fam91a1 T A 15: 58,304,797 (GRCm39) S416T probably benign Het
Fat3 A T 9: 15,849,694 (GRCm39) S3903T probably damaging Het
Fer1l4 A G 2: 155,871,605 (GRCm39) F1392L probably benign Het
Fstl4 T C 11: 53,059,005 (GRCm39) I488T possibly damaging Het
Gak A T 5: 108,752,243 (GRCm39) Y338* probably null Het
Garin4 T A 1: 190,896,018 (GRCm39) E208D probably benign Het
Glp2r T C 11: 67,648,367 (GRCm39) T112A probably benign Het
Glrb G A 3: 80,769,081 (GRCm39) T180I probably damaging Het
Gm10118 C T 10: 63,762,671 (GRCm39) probably benign Het
Gpr19 A T 6: 134,847,192 (GRCm39) F72I possibly damaging Het
Grin3b C A 10: 79,811,716 (GRCm39) N740K probably damaging Het
Gstk1 A T 6: 42,223,535 (GRCm39) T42S probably benign Het
Hoxd1 G A 2: 74,594,626 (GRCm39) A294T probably benign Het
Hspg2 T A 4: 137,275,323 (GRCm39) probably null Het
Ift74 A T 4: 94,573,940 (GRCm39) N472I probably benign Het
Il1a C T 2: 129,144,813 (GRCm39) D202N probably damaging Het
Islr T C 9: 58,064,778 (GRCm39) D243G probably damaging Het
Kif21a C T 15: 90,843,946 (GRCm39) E1098K probably damaging Het
Krtap16-1 T C 11: 99,876,852 (GRCm39) E184G probably damaging Het
Lrp1b A G 2: 41,075,974 (GRCm39) I1889T possibly damaging Het
Mcpt4 A G 14: 56,297,416 (GRCm39) *247Q probably null Het
Megf10 T C 18: 57,410,802 (GRCm39) probably null Het
Mettl2 T A 11: 105,030,544 (GRCm39) H373Q probably benign Het
Mocos A G 18: 24,816,273 (GRCm39) K617E probably damaging Het
Ms4a8a A G 19: 11,053,761 (GRCm39) I115T probably damaging Het
Ndst1 T C 18: 60,828,580 (GRCm39) Y658C probably damaging Het
Nin G A 12: 70,077,712 (GRCm39) A1031V probably benign Het
Nin C A 12: 70,092,337 (GRCm39) K657N possibly damaging Het
Noc4l G A 5: 110,797,713 (GRCm39) R344* probably null Het
Notch2 T C 3: 98,052,443 (GRCm39) S1980P probably damaging Het
Npat C T 9: 53,473,960 (GRCm39) S584L probably benign Het
Nphp4 A G 4: 152,581,121 (GRCm39) T102A probably damaging Het
Olfml2b A G 1: 170,472,642 (GRCm39) N51S possibly damaging Het
Or2n1e A G 17: 38,585,932 (GRCm39) K90R probably benign Het
Or2y16 T A 11: 49,335,116 (GRCm39) I146N possibly damaging Het
Or5al1 T C 2: 85,990,280 (GRCm39) I145V probably benign Het
Or5w22 A G 2: 87,362,427 (GRCm39) T17A probably benign Het
Pced1b T A 15: 97,282,758 (GRCm39) W266R probably damaging Het
Pdcd6ip A G 9: 113,507,422 (GRCm39) V378A probably damaging Het
Pde8b T A 13: 95,169,374 (GRCm39) K683N probably damaging Het
Pfas T G 11: 68,888,872 (GRCm39) probably null Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plcd4 T G 1: 74,587,394 (GRCm39) S51R probably benign Het
Plekhh2 T A 17: 84,884,612 (GRCm39) Y775* probably null Het
Polr3a G A 14: 24,534,232 (GRCm39) P91L probably damaging Het
Ppp4r3b C T 11: 29,163,765 (GRCm39) T47I possibly damaging Het
Pter A T 2: 12,999,572 (GRCm39) D169V probably damaging Het
Ptpn12 A G 5: 21,203,168 (GRCm39) S537P probably benign Het
Ptpru T A 4: 131,506,361 (GRCm39) D1067V probably damaging Het
Rcn1 A T 2: 105,229,350 (GRCm39) D67E probably damaging Het
Rfc4 T C 16: 22,932,983 (GRCm39) E318G probably benign Het
Samd13 C A 3: 146,368,469 (GRCm39) R41L probably benign Het
Shoc1 T C 4: 59,113,926 (GRCm39) K13R unknown Het
Slc6a2 T C 8: 93,699,440 (GRCm39) I156T possibly damaging Het
Spag16 T C 1: 70,036,015 (GRCm39) F348L probably benign Het
Spag4 T C 2: 155,907,342 (GRCm39) Y21H probably damaging Het
Stam2 G A 2: 52,593,187 (GRCm39) A368V possibly damaging Het
Stc1 A T 14: 69,275,776 (GRCm39) M190L probably benign Het
Stxbp1 A G 2: 32,690,629 (GRCm39) L475P probably damaging Het
Syn3 A T 10: 85,916,075 (GRCm39) Y304N probably damaging Het
Tbc1d15 G T 10: 115,056,219 (GRCm39) T251K probably benign Het
Tbpl2 A T 2: 23,985,057 (GRCm39) M29K probably benign Het
Tead3 T G 17: 28,553,698 (GRCm39) Q170H possibly damaging Het
Tpbpb T C 13: 61,049,977 (GRCm39) N51D probably benign Het
Tstd3 A G 4: 21,759,400 (GRCm39) M124T probably benign Het
Ttyh1 T A 7: 4,122,695 (GRCm39) H14Q possibly damaging Het
Tubgcp4 G A 2: 121,020,374 (GRCm39) W449* probably null Het
Txndc11 A G 16: 10,905,639 (GRCm39) probably null Het
Usp24 T A 4: 106,296,024 (GRCm39) D2615E probably damaging Het
Vars1 A G 17: 35,233,734 (GRCm39) E1020G possibly damaging Het
Vmn2r58 A G 7: 41,509,951 (GRCm39) I542T probably benign Het
Vwf A G 6: 125,620,032 (GRCm39) Y1570C probably damaging Het
Vwf A T 6: 125,662,863 (GRCm39) Y2749F possibly damaging Het
Zfand1 A C 3: 10,406,115 (GRCm39) V198G possibly damaging Het
Zfp536 G A 7: 37,268,879 (GRCm39) T179I probably damaging Het
Zfp599 T C 9: 22,161,700 (GRCm39) Y155C probably benign Het
Other mutations in Extl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Extl1 APN 4 134,085,330 (GRCm39) missense probably damaging 1.00
IGL01404:Extl1 APN 4 134,086,514 (GRCm39) missense probably benign 0.06
IGL03040:Extl1 APN 4 134,087,940 (GRCm39) splice site probably benign
R0165:Extl1 UTSW 4 134,085,014 (GRCm39) missense probably damaging 1.00
R0566:Extl1 UTSW 4 134,084,988 (GRCm39) unclassified probably benign
R0575:Extl1 UTSW 4 134,084,988 (GRCm39) unclassified probably benign
R0941:Extl1 UTSW 4 134,084,988 (GRCm39) unclassified probably benign
R0943:Extl1 UTSW 4 134,084,988 (GRCm39) unclassified probably benign
R0988:Extl1 UTSW 4 134,084,988 (GRCm39) unclassified probably benign
R0989:Extl1 UTSW 4 134,084,988 (GRCm39) unclassified probably benign
R0990:Extl1 UTSW 4 134,084,988 (GRCm39) unclassified probably benign
R1022:Extl1 UTSW 4 134,084,988 (GRCm39) unclassified probably benign
R1035:Extl1 UTSW 4 134,084,988 (GRCm39) unclassified probably benign
R1344:Extl1 UTSW 4 134,086,552 (GRCm39) missense probably damaging 0.99
R1495:Extl1 UTSW 4 134,084,988 (GRCm39) unclassified probably benign
R1750:Extl1 UTSW 4 134,089,999 (GRCm39) missense probably benign 0.00
R1768:Extl1 UTSW 4 134,098,449 (GRCm39) missense probably benign
R1883:Extl1 UTSW 4 134,091,917 (GRCm39) missense probably benign 0.01
R2143:Extl1 UTSW 4 134,098,355 (GRCm39) missense probably benign 0.31
R2144:Extl1 UTSW 4 134,098,355 (GRCm39) missense probably benign 0.31
R2155:Extl1 UTSW 4 134,090,491 (GRCm39) missense possibly damaging 0.71
R4298:Extl1 UTSW 4 134,084,969 (GRCm39) missense probably damaging 1.00
R4605:Extl1 UTSW 4 134,087,145 (GRCm39) missense probably benign 0.00
R4606:Extl1 UTSW 4 134,098,691 (GRCm39) missense probably benign 0.00
R4606:Extl1 UTSW 4 134,098,690 (GRCm39) missense probably damaging 0.99
R4787:Extl1 UTSW 4 134,091,978 (GRCm39) missense probably damaging 1.00
R5210:Extl1 UTSW 4 134,087,895 (GRCm39) missense probably benign 0.02
R5776:Extl1 UTSW 4 134,085,083 (GRCm39) missense possibly damaging 0.82
R6216:Extl1 UTSW 4 134,090,441 (GRCm39) missense probably benign
R6392:Extl1 UTSW 4 134,091,945 (GRCm39) missense probably benign 0.44
R6674:Extl1 UTSW 4 134,085,438 (GRCm39) missense probably damaging 0.97
R7218:Extl1 UTSW 4 134,087,080 (GRCm39) missense probably benign 0.14
R7779:Extl1 UTSW 4 134,087,908 (GRCm39) missense probably benign 0.25
R7779:Extl1 UTSW 4 134,085,014 (GRCm39) missense probably damaging 1.00
R7795:Extl1 UTSW 4 134,091,990 (GRCm39) missense probably damaging 1.00
R7800:Extl1 UTSW 4 134,098,929 (GRCm39) missense probably benign 0.10
R8472:Extl1 UTSW 4 134,098,603 (GRCm39) missense probably benign
R8977:Extl1 UTSW 4 134,086,435 (GRCm39) missense possibly damaging 0.95
R9079:Extl1 UTSW 4 134,089,975 (GRCm39) missense probably damaging 1.00
X0020:Extl1 UTSW 4 134,085,332 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- CTGCTCACAGAGATGCTTCTGGC -3'
(R):5'- CAGGAGATTCTGGGCACATGCAC -3'

Sequencing Primer
(F):5'- acagatgggaaaaccaaggaag -3'
(R):5'- TTCTGGGCACATGCACATAGG -3'
Posted On 2014-05-14