Incidental Mutation 'R8977:Extl1'
ID 683487
Institutional Source Beutler Lab
Gene Symbol Extl1
Ensembl Gene ENSMUSG00000028838
Gene Name exostosin-like glycosyltransferase 1
Synonyms D430033M16Rik
MMRRC Submission 068715-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.285) question?
Stock # R8977 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 134083684-134099893 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134086435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 540 (E540G)
Ref Sequence ENSEMBL: ENSMUSP00000030643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030643] [ENSMUST00000105872] [ENSMUST00000105874]
AlphaFold Q9JKV7
Predicted Effect possibly damaging
Transcript: ENSMUST00000030643
AA Change: E540G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030643
Gene: ENSMUSG00000028838
AA Change: E540G

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: 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,184,710 (GRCm39) E476G unknown Het
Aars1 G A 8: 111,766,849 (GRCm39) R77Q probably damaging Het
Abcc10 C A 17: 46,624,593 (GRCm39) V795L probably benign Het
Adam30 A G 3: 98,069,378 (GRCm39) K276E probably damaging Het
Adam6b A T 12: 113,453,996 (GRCm39) N271I probably benign Het
Adgrl2 T C 3: 148,660,223 (GRCm39) I17V probably null Het
Anapc1 C A 2: 128,483,322 (GRCm39) G1258C probably damaging Het
Ank2 G T 3: 126,738,575 (GRCm39) H2436Q unknown Het
Ankrd13a A T 5: 114,933,806 (GRCm39) K267* probably null Het
Apob T C 12: 8,065,990 (GRCm39) Y4320H probably damaging Het
Atp2b2 T C 6: 113,750,325 (GRCm39) D678G probably damaging Het
Bhlhe41 C A 6: 145,809,096 (GRCm39) V239F possibly damaging Het
Cbfa2t2 T G 2: 154,342,410 (GRCm39) L42R probably benign Het
Ccer2 G A 7: 28,456,113 (GRCm39) V52M probably damaging Het
Ccnj T C 19: 40,833,383 (GRCm39) F187S probably damaging Het
Cd109 G A 9: 78,614,810 (GRCm39) V1286I probably benign Het
Cfap210 T C 2: 69,617,643 (GRCm39) H46R possibly damaging Het
Cfap46 G T 7: 139,259,849 (GRCm39) T148N probably benign Het
Chmp7 A G 14: 69,958,684 (GRCm39) V210A probably benign Het
Cuzd1 A G 7: 130,923,754 (GRCm39) F8S probably benign Het
Dnmbp A T 19: 43,840,751 (GRCm39) D549E probably damaging Het
Dpp4 A G 2: 62,204,747 (GRCm39) L240P probably benign Het
Dst A T 1: 34,286,864 (GRCm39) R3398S probably damaging Het
Eml6 A G 11: 29,734,182 (GRCm39) I1186T possibly damaging Het
Gdpd5 A G 7: 99,103,057 (GRCm39) I339V probably benign Het
Ggcx T C 6: 72,406,265 (GRCm39) probably null Het
Gm9195 A G 14: 72,691,338 (GRCm39) F1637L unknown Het
Igkv5-48 G C 6: 69,703,616 (GRCm39) N96K possibly damaging Het
Itga11 T C 9: 62,662,922 (GRCm39) I546T probably damaging Het
Map3k5 T A 10: 19,955,000 (GRCm39) F624L possibly damaging Het
Map7 T A 10: 20,145,336 (GRCm39) probably null Het
Mdga2 A T 12: 66,844,409 (GRCm39) D196E possibly damaging Het
Mettl2 T C 11: 105,019,791 (GRCm39) C143R probably benign Het
Mmut G T 17: 41,249,481 (GRCm39) R152L probably benign Het
Ncam1 G T 9: 49,418,825 (GRCm39) T825K probably damaging Het
Nucb2 C A 7: 116,128,063 (GRCm39) N257K probably benign Het
Or1e19 A G 11: 73,316,651 (GRCm39) S53P probably benign Het
Or1p1c A T 11: 74,160,304 (GRCm39) I30F probably benign Het
Or2b7 T A 13: 21,740,016 (GRCm39) M59L possibly damaging Het
Or51i1 A T 7: 103,670,762 (GRCm39) Y254* probably null Het
Or52n1 A T 7: 104,383,248 (GRCm39) F108I probably damaging Het
Or8k38 C T 2: 86,488,472 (GRCm39) C110Y probably benign Het
Pamr1 T A 2: 102,441,963 (GRCm39) V184D probably damaging Het
Paqr9 A T 9: 95,442,888 (GRCm39) I293F possibly damaging Het
Pi15 G T 1: 17,690,126 (GRCm39) probably null Het
Pkm T A 9: 59,578,923 (GRCm39) I301N probably damaging Het
Pramel1 T A 4: 143,123,961 (GRCm39) I212N probably benign Het
Prdm6 A T 18: 53,701,373 (GRCm39) I549F probably damaging Het
Prpf8 A G 11: 75,386,870 (GRCm39) E1105G probably benign Het
Rad51b T A 12: 79,704,662 (GRCm39) V274E probably damaging Het
Rd3l T A 12: 111,946,593 (GRCm39) Y61F probably damaging Het
Resf1 T A 6: 149,229,906 (GRCm39) I984N probably damaging Het
Rgs11 T C 17: 26,427,233 (GRCm39) V388A probably damaging Het
Rictor A G 15: 6,812,566 (GRCm39) I901V probably benign Het
Riox2 A G 16: 59,312,195 (GRCm39) D444G probably benign Het
Scn2a T A 2: 65,594,014 (GRCm39) V1621E probably damaging Het
Sec11c A G 18: 65,945,818 (GRCm39) I94V possibly damaging Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Slc34a1 T C 13: 55,556,815 (GRCm39) I337T probably benign Het
Slc6a19 T C 13: 73,830,269 (GRCm39) K516E probably benign Het
Slco1b2 A T 6: 141,628,980 (GRCm39) M596L probably benign Het
Smarce1 A G 11: 99,110,511 (GRCm39) I100T possibly damaging Het
Stk32c A T 7: 138,705,161 (GRCm39) M119K possibly damaging Het
Tekt2 T C 4: 126,217,266 (GRCm39) probably null Het
Tenm4 A T 7: 96,461,177 (GRCm39) N908Y probably damaging Het
Tex38 A G 4: 115,637,792 (GRCm39) S4P probably benign Het
Top2b T A 14: 16,393,239 (GRCm38) H299Q probably benign Het
Trim55 C A 3: 19,713,341 (GRCm39) R131S probably benign Het
Vmn2r109 A T 17: 20,774,531 (GRCm39) Y275N possibly damaging Het
Vmn2r116 C T 17: 23,605,916 (GRCm39) T276I possibly 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
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 4 134,098,691 (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
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'- TAAAGACCCGCTTTCCAGAGG -3'
(R):5'- CATAGGCTATAAGGATTTTGGTCAGG -3'

Sequencing Primer
(F):5'- CAAGTGCTAGACGAGTGCTCTTAC -3'
(R):5'- GGTCAGGAACCCCCTCCTTAC -3'
Posted On 2021-10-11