Incidental Mutation 'R0575:Extl1'
ID 60442
Institutional Source Beutler Lab
Gene Symbol Extl1
Ensembl Gene ENSMUSG00000028838
Gene Name exostosin-like glycosyltransferase 1
Synonyms D430033M16Rik
MMRRC Submission 038765-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R0575 (G1)
Quality Score 195
Status Validated
Chromosome 4
Chromosomal Location 134083684-134099893 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) TGCGTTGCACCGATACCGGG to TG at 134084988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030643] [ENSMUST00000081094] [ENSMUST00000105872] [ENSMUST00000105874]
AlphaFold Q9JKV7
Predicted Effect probably benign
Transcript: ENSMUST00000030643
SMART Domains Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838

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 probably benign
Transcript: ENSMUST00000081094
SMART Domains Protein: ENSMUSP00000079875
Gene: ENSMUSG00000028836

DomainStartEndE-ValueType
Pfam:Cation_efflux 1 280 6e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105872
SMART Domains Protein: ENSMUSP00000101498
Gene: ENSMUSG00000028836

DomainStartEndE-ValueType
Pfam:Cation_efflux 1 280 6e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105874
SMART Domains Protein: ENSMUSP00000101500
Gene: ENSMUSG00000028836

DomainStartEndE-ValueType
Pfam:Cation_efflux 70 277 3.4e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132387
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (30/30)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik C T 14: 54,828,709 (GRCm39) S264N possibly damaging Het
Acsm1 G A 7: 119,258,424 (GRCm39) probably null Het
Adsl C T 15: 80,847,886 (GRCm39) A93V probably damaging Het
Agbl5 A T 5: 31,051,798 (GRCm39) S539C probably damaging Het
Aggf1 T A 13: 95,504,905 (GRCm39) T285S probably benign Het
Anapc11 A G 11: 120,490,192 (GRCm39) D36G probably benign Het
Ankrd44 G A 1: 54,801,469 (GRCm39) A286V probably damaging Het
Atf7ip2 G T 16: 10,055,075 (GRCm39) G281C probably damaging Het
Birc6 A G 17: 74,996,232 (GRCm39) K4475E probably damaging Het
Ccbe1 T A 18: 66,227,066 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,552,288 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,951,934 (GRCm39) probably benign Het
Dtwd2 C A 18: 49,831,539 (GRCm39) C156F probably damaging Het
Efcab6 T G 15: 83,851,901 (GRCm39) I326L probably benign Het
F5 C A 1: 164,003,813 (GRCm39) Q203K probably damaging Het
Frs3 A G 17: 48,014,648 (GRCm39) H447R possibly damaging Het
Gmds T G 13: 32,124,566 (GRCm39) Q264P probably damaging Het
Golgb1 T A 16: 36,739,171 (GRCm39) D2503E probably benign Het
Lgi4 G A 7: 30,759,518 (GRCm39) G25R probably benign Het
Or2y1b G A 11: 49,208,880 (GRCm39) C169Y probably damaging Het
Or5b107 T A 19: 13,142,751 (GRCm39) Y124* probably null Het
Pcdh20 A G 14: 88,705,048 (GRCm39) S751P probably damaging Het
Pcnx4 A G 12: 72,614,010 (GRCm39) T652A probably benign Het
Pom121l2 T G 13: 22,168,338 (GRCm39) F870V probably damaging Het
Prob1 T C 18: 35,787,774 (GRCm39) D160G possibly damaging Het
Spa17 T C 9: 37,514,689 (GRCm39) K133E probably damaging Het
Strbp T A 2: 37,530,885 (GRCm39) D123V possibly damaging Het
Tnxb A G 17: 34,936,180 (GRCm39) T3586A possibly damaging Het
Zfp518a T A 19: 40,900,759 (GRCm39) H229Q probably damaging 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
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 4 134,098,691 (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'- TGTGCGAAACGTGCCAAACG -3'
(R):5'- AGGACCATAGCTGATGAGACTCCCAC -3'

Sequencing Primer
(F):5'- CGTGCCAAACGCAACCC -3'
(R):5'- GATGAACTTCCTGGTAGCCAC -3'
Posted On 2013-07-11