Incidental Mutation 'R0941:Extl1'
ID 82578
Institutional Source Beutler Lab
Gene Symbol Extl1
Ensembl Gene ENSMUSG00000028838
Gene Name exostosin-like glycosyltransferase 1
Synonyms D430033M16Rik
MMRRC Submission 039080-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R0941 (G1)
Quality Score 143
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: 98.7%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 97% (36/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 G T 18: 74,931,414 (GRCm39) M203I probably benign Het
Afmid T A 11: 117,726,071 (GRCm39) probably benign Het
Ahnak A G 19: 8,987,278 (GRCm39) D2854G probably damaging Het
Amotl1 A C 9: 14,507,854 (GRCm39) I31S possibly damaging Het
Arf3 A G 15: 98,638,984 (GRCm39) V91A probably benign Het
Atp1b1 A C 1: 164,270,829 (GRCm39) I50S probably benign Het
Baz1a A T 12: 54,945,216 (GRCm39) S1380T probably benign Het
C4b T A 17: 34,959,029 (GRCm39) T467S probably benign Het
Casd1 T C 6: 4,635,848 (GRCm39) S640P probably damaging Het
Col4a1 C T 8: 11,258,296 (GRCm39) G1396S unknown Het
Fhip1a G T 3: 85,580,366 (GRCm39) P613Q probably benign Het
Gm12695 C A 4: 96,616,454 (GRCm39) E460* probably null Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Igsf8 C T 1: 172,143,963 (GRCm39) R39C probably damaging Het
Kdm3b T A 18: 34,936,605 (GRCm39) C296S probably damaging Het
Lama1 C T 17: 68,082,860 (GRCm39) P1373S probably benign Het
Lamc1 A G 1: 153,208,020 (GRCm39) L89P possibly damaging Het
Ltc4s T G 11: 50,128,269 (GRCm39) probably null Het
Met A T 6: 17,491,393 (GRCm39) I52F probably damaging Het
Mterf2 G A 10: 84,955,934 (GRCm39) T230M possibly damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Npr1 A T 3: 90,368,716 (GRCm39) I448N probably benign Het
Or52u1 C T 7: 104,237,545 (GRCm39) T178I probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Serpini1 A T 3: 75,523,934 (GRCm39) I181F probably damaging Het
Shc3 T C 13: 51,634,242 (GRCm39) M88V probably benign Het
Skint6 T A 4: 113,095,555 (GRCm39) S35C probably damaging Het
Spta1 T C 1: 174,072,771 (GRCm39) probably benign Het
Sult2a2 C T 7: 13,468,815 (GRCm39) R94* probably null Het
Trim9 A G 12: 70,295,037 (GRCm39) V787A probably damaging Het
Ttn A G 2: 76,549,367 (GRCm39) V31770A probably benign Het
Unc5d T C 8: 29,249,055 (GRCm39) N337D possibly damaging Het
Vmn2r7 A T 3: 64,624,000 (GRCm39) Y107N 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
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'- ATGAACTTCCTGGTAGCCACCGTC -3'

Sequencing Primer
(F):5'- CGTGCCAAACGCAACCC -3'
(R):5'- ACTGCCCCCTATCAAGGTG -3'
Posted On 2013-11-08