Incidental Mutation 'R4606:Extl1'
ID 346003
Institutional Source Beutler Lab
Gene Symbol Extl1
Ensembl Gene ENSMUSG00000028838
Gene Name exostosin-like glycosyltransferase 1
Synonyms D430033M16Rik
MMRRC Submission 041817-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R4606 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 134083684-134099893 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 134098691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 113 (D113E)
Ref Sequence ENSEMBL: ENSMUSP00000030643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030643]
AlphaFold Q9JKV7
Predicted Effect probably benign
Transcript: ENSMUST00000030643
AA Change: D113E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: D113E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 96% (69/72)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A T 8: 79,937,374 (GRCm39) W178R probably benign Het
Abcb5 T C 12: 118,896,345 (GRCm39) probably null Het
Akr1b1 C A 6: 34,283,599 (GRCm39) probably benign Het
Arid1a A G 4: 133,414,634 (GRCm39) F1199S unknown Het
Atp4b A G 8: 13,439,998 (GRCm39) F116S probably damaging Het
Atp6v1b1 T C 6: 83,729,443 (GRCm39) S127P probably damaging Het
Blk C T 14: 63,611,652 (GRCm39) V428I probably benign Het
Ccser1 T C 6: 61,288,568 (GRCm39) S244P probably damaging Het
Ceacam1 T A 7: 25,173,951 (GRCm39) I235F probably damaging Het
Cyp2g1 T A 7: 26,513,579 (GRCm39) Y173N possibly damaging Het
Ddr2 T A 1: 169,829,421 (GRCm39) I278F probably benign Het
Degs1 T C 1: 182,104,388 (GRCm39) D299G probably damaging Het
Dip2b G A 15: 100,113,210 (GRCm39) V1542I possibly damaging Het
Dmxl1 T A 18: 50,095,248 (GRCm39) S2942R probably damaging Het
Dpf1 T A 7: 29,016,015 (GRCm39) probably benign Het
Ephb6 A G 6: 41,593,508 (GRCm39) Y518C probably benign Het
Eps15l1 A T 8: 73,127,760 (GRCm39) F606I possibly damaging Het
Fat1 T C 8: 45,403,720 (GRCm39) V157A possibly damaging Het
Fcho1 A T 8: 72,165,124 (GRCm39) D444E probably benign Het
Fgd3 T A 13: 49,450,036 (GRCm39) D71V probably damaging Het
Fgd5 T A 6: 91,965,190 (GRCm39) D316E possibly damaging Het
Gys2 A T 6: 142,400,210 (GRCm39) F334I possibly damaging Het
Ik G T 18: 36,886,608 (GRCm39) R360L possibly damaging Het
Kazn A C 4: 141,845,599 (GRCm39) probably null Het
Kmt2d A T 15: 98,737,597 (GRCm39) probably benign Het
Krr1 T C 10: 111,811,582 (GRCm39) probably benign Het
Krt87 C T 15: 101,384,930 (GRCm39) E389K probably benign Het
Lrrc4c T C 2: 97,460,658 (GRCm39) V428A probably benign Het
Lvrn C A 18: 46,997,832 (GRCm39) T260K possibly damaging Het
Mcc C T 18: 44,601,488 (GRCm39) E614K probably damaging Het
Msrb3 A T 10: 120,685,902 (GRCm39) V81D probably damaging Het
Muc19 C T 15: 91,832,268 (GRCm39) noncoding transcript Het
Myadm T A 7: 3,345,916 (GRCm39) L226* probably null Het
Myof C T 19: 37,955,547 (GRCm39) V526M probably damaging Het
Nckap5l A G 15: 99,327,204 (GRCm39) probably benign Het
Or1r1 A G 11: 73,874,718 (GRCm39) S239P probably damaging Het
Or4b1 G T 2: 89,979,160 (GRCm39) probably benign Het
Or4c35 C A 2: 89,808,350 (GRCm39) A76D possibly damaging Het
Or9g10 T A 2: 85,584,284 (GRCm39) probably benign Het
Pars2 T C 4: 106,511,247 (GRCm39) V307A probably benign Het
Pcdhb1 T G 18: 37,398,581 (GRCm39) Y177* probably null Het
Pcdhb4 T A 18: 37,441,705 (GRCm39) D338E probably damaging Het
Pik3r2 G A 8: 71,224,780 (GRCm39) R199* probably null Het
Pla2g4f C T 2: 120,144,467 (GRCm39) R24Q probably benign Het
Pnma2 T C 14: 67,153,681 (GRCm39) I35T probably benign Het
Podn C A 4: 107,875,064 (GRCm39) A568S probably benign Het
Pou3f1 A T 4: 124,552,629 (GRCm39) E377V probably damaging Het
Ppfia1 T C 7: 144,038,929 (GRCm39) D494G probably damaging Het
Pramel34 A T 5: 93,784,461 (GRCm39) D137E probably damaging Het
Ptpn9 A T 9: 56,929,495 (GRCm39) T71S possibly damaging Het
Ptprz1 C T 6: 23,001,486 (GRCm39) P1192L possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rnf217 T A 10: 31,393,472 (GRCm39) K370* probably null Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Scaper A T 9: 55,563,187 (GRCm39) probably null Het
Sos2 T C 12: 69,661,380 (GRCm39) probably benign Het
Sptbn5 C T 2: 119,897,927 (GRCm39) probably null Het
Sumo1 A G 1: 59,683,668 (GRCm39) probably benign Het
Syne2 C A 12: 76,036,027 (GRCm39) N3771K probably damaging Het
Tbx18 T C 9: 87,612,822 (GRCm39) I26V possibly damaging Het
Trpm3 T A 19: 22,955,988 (GRCm39) M1140K probably benign Het
Usp29 G A 7: 6,966,356 (GRCm39) probably null Het
Wdr7 C T 18: 63,913,016 (GRCm39) Q946* probably null Het
Ythdf1 T C 2: 180,553,975 (GRCm39) D46G probably damaging Het
Zfp217 T C 2: 169,961,670 (GRCm39) N219S possibly damaging Het
Zkscan3 A G 13: 21,577,953 (GRCm39) I256T 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
R1699:Extl1 UTSW 4 134,091,894 (GRCm39) nonsense probably null
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 4 134,098,690 (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'- ATACGGGAGCGCTAAATCG -3'
(R):5'- TTCTCCCAGTCTGAGACGAAC -3'

Sequencing Primer
(F):5'- TAAATCGAAGCCCGGTCG -3'
(R):5'- TCTGAGACGAACCCAGAAGATGTC -3'
Posted On 2015-09-25