Incidental Mutation 'R5542:Ext1'
ID 436061
Institutional Source Beutler Lab
Gene Symbol Ext1
Ensembl Gene ENSMUSG00000061731
Gene Name exostosin glycosyltransferase 1
Synonyms
MMRRC Submission 043100-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5542 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 52931657-53209579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 52939213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 612 (W612L)
Ref Sequence ENSEMBL: ENSMUSP00000076505 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077273] [ENSMUST00000133362]
AlphaFold P97464
Predicted Effect probably damaging
Transcript: ENSMUST00000077273
AA Change: W612L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000076505
Gene: ENSMUSG00000061731
AA Change: W612L

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
low complexity region 29 41 N/A INTRINSIC
Pfam:Exostosin 110 396 6e-64 PFAM
Pfam:Glyco_transf_64 480 729 1.1e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133362
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a lethal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 C T 3: 59,932,484 (GRCm39) T333I probably damaging Het
Acacb C T 5: 114,333,798 (GRCm39) R574C probably damaging Het
Actr10 T C 12: 71,001,430 (GRCm39) probably benign Het
Ankdd1a T A 9: 65,411,472 (GRCm39) probably null Het
Anks4b C T 7: 119,781,646 (GRCm39) Q226* probably null Het
AW146154 C A 7: 41,130,801 (GRCm39) G105V probably benign Het
Cdh4 T A 2: 179,502,019 (GRCm39) N326K probably damaging Het
Cnbd1 T C 4: 18,860,517 (GRCm39) T410A possibly damaging Het
Cndp2 A T 18: 84,690,201 (GRCm39) M247K probably damaging Het
Crx G A 7: 15,602,262 (GRCm39) R139C probably damaging Het
Ctrc A G 4: 141,571,037 (GRCm39) Y68H probably damaging Het
Ddx4 T C 13: 112,757,779 (GRCm39) D326G probably damaging Het
Edem1 C T 6: 108,831,290 (GRCm39) R584C possibly damaging Het
Emcn A G 3: 137,085,638 (GRCm39) T79A probably benign Het
Fbrsl1 C T 5: 110,526,307 (GRCm39) G437R probably damaging Het
Fbxo7 A C 10: 85,869,149 (GRCm39) Q201P probably benign Het
Fbxo9 T C 9: 78,008,938 (GRCm39) M12V possibly damaging Het
Fcgbpl1 A T 7: 27,854,914 (GRCm39) I1847F probably damaging Het
Flii A G 11: 60,609,688 (GRCm39) S640P probably benign Het
Fsip2 A T 2: 82,812,207 (GRCm39) N2842I possibly damaging Het
Fst G T 13: 114,592,241 (GRCm39) Q159K probably damaging Het
Fuom A T 7: 139,680,025 (GRCm39) *109R probably null Het
Hhipl2 A G 1: 183,214,055 (GRCm39) D377G probably damaging Het
Hspa14 A G 2: 3,503,560 (GRCm39) V116A possibly damaging Het
Ighm A G 12: 113,382,601 (GRCm39) probably benign Het
Ighv1-85 T A 12: 115,963,847 (GRCm39) Y51F probably benign Het
Ighv2-3 A T 12: 113,574,833 (GRCm39) D107E probably benign Het
Ighv2-6-8 T A 12: 113,760,187 (GRCm39) M1L probably benign Het
Ipo5 T C 14: 121,163,683 (GRCm39) V247A probably benign Het
Itga9 T C 9: 118,672,729 (GRCm39) F154L possibly damaging Het
Itprid1 C A 6: 55,955,380 (GRCm39) P996Q probably damaging Het
Knl1 T A 2: 118,898,829 (GRCm39) C177S possibly damaging Het
Lrrc17 G A 5: 21,780,156 (GRCm39) G377S probably damaging Het
Marveld3 A T 8: 110,675,249 (GRCm39) I189K probably benign Het
Msantd2 G A 9: 37,428,555 (GRCm39) G185R probably damaging Het
Mtcl1 G A 17: 66,691,354 (GRCm39) probably benign Het
Muc21 T C 17: 35,933,395 (GRCm39) probably benign Het
Mycbpap A T 11: 94,398,572 (GRCm39) probably null Het
Nbeal1 A G 1: 60,316,353 (GRCm39) D1852G probably benign Het
Ndc80 A T 17: 71,807,276 (GRCm39) V560D probably benign Het
Nscme3l A T 19: 5,553,463 (GRCm39) V106D probably damaging Het
Or1e25 T A 11: 73,494,030 (GRCm39) V208E possibly damaging Het
Or2t48 A C 11: 58,420,710 (GRCm39) V34G probably benign Het
Or56a3 A T 7: 104,735,565 (GRCm39) D214V probably damaging Het
Or6a2 A T 7: 106,600,286 (GRCm39) S260R probably damaging Het
Or9i1b T C 19: 13,896,411 (GRCm39) V9A probably benign Het
Pcdhga4 A T 18: 37,819,651 (GRCm39) Y400F probably damaging Het
Pkd2 A G 5: 104,634,515 (GRCm39) silent Het
Plxna4 T A 6: 32,183,165 (GRCm39) I913F probably damaging Het
Psmc1 T C 12: 100,086,399 (GRCm39) probably null Het
Robo2 G A 16: 73,695,853 (GRCm39) T1430I probably benign Het
Safb2 G A 17: 56,882,647 (GRCm39) R329C probably damaging Het
Septin14 T C 5: 129,774,926 (GRCm39) H83R probably damaging Het
Slc16a10 A G 10: 39,952,784 (GRCm39) F237L probably benign Het
Slc37a1 A T 17: 31,559,236 (GRCm39) T439S probably damaging Het
Slc6a6 T C 6: 91,712,170 (GRCm39) F233S probably damaging Het
Smyd3 A T 1: 179,238,024 (GRCm39) D114E probably benign Het
Sned1 T C 1: 93,199,324 (GRCm39) I468T probably benign Het
Speer4a1 T A 5: 26,241,736 (GRCm39) N130I probably damaging Het
Tdrd7 T C 4: 46,029,757 (GRCm39) V1030A probably benign Het
Trip12 A T 1: 84,727,065 (GRCm39) D1135E probably damaging Het
Tsga10 T A 1: 37,800,598 (GRCm39) D542V probably damaging Het
Ubqlnl G A 7: 103,798,904 (GRCm39) Q198* probably null Het
Unc93a2 A T 17: 7,637,187 (GRCm39) C334S probably benign Het
Usp46 A T 5: 74,189,902 (GRCm39) M43K probably benign Het
Vmn1r175 A T 7: 23,508,531 (GRCm39) I32N possibly damaging Het
Vmn1r29 C T 6: 58,285,108 (GRCm39) T276I probably benign Het
Vmn1r81 A T 7: 11,994,034 (GRCm39) D191E probably damaging Het
Zbtb5 C A 4: 44,995,052 (GRCm39) V111F probably damaging Het
Zfp12 C T 5: 143,230,240 (GRCm39) P189L possibly damaging Het
Zfp729b A G 13: 67,739,140 (GRCm39) F1042L probably benign Het
Other mutations in Ext1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00710:Ext1 APN 15 53,208,269 (GRCm39) missense probably damaging 1.00
IGL02081:Ext1 APN 15 52,936,842 (GRCm39) nonsense probably null
IGL03147:Ext1 UTSW 15 52,951,468 (GRCm39) missense probably damaging 0.98
R0047:Ext1 UTSW 15 53,208,542 (GRCm39) missense probably benign
R0047:Ext1 UTSW 15 53,208,542 (GRCm39) missense probably benign
R0437:Ext1 UTSW 15 52,969,502 (GRCm39) missense probably damaging 1.00
R0881:Ext1 UTSW 15 53,207,879 (GRCm39) missense probably benign 0.23
R1882:Ext1 UTSW 15 52,939,188 (GRCm39) missense probably damaging 1.00
R2135:Ext1 UTSW 15 52,965,140 (GRCm39) missense possibly damaging 0.88
R2175:Ext1 UTSW 15 52,932,124 (GRCm39) missense probably damaging 1.00
R2762:Ext1 UTSW 15 53,208,323 (GRCm39) missense probably benign 0.29
R3162:Ext1 UTSW 15 53,208,000 (GRCm39) missense possibly damaging 0.82
R3162:Ext1 UTSW 15 53,208,000 (GRCm39) missense possibly damaging 0.82
R3752:Ext1 UTSW 15 52,939,306 (GRCm39) missense probably damaging 1.00
R3815:Ext1 UTSW 15 53,208,485 (GRCm39) missense probably benign 0.05
R4096:Ext1 UTSW 15 52,936,753 (GRCm39) missense probably damaging 1.00
R4298:Ext1 UTSW 15 53,208,521 (GRCm39) missense probably benign 0.02
R4362:Ext1 UTSW 15 52,970,987 (GRCm39) intron probably benign
R4550:Ext1 UTSW 15 52,965,182 (GRCm39) missense probably damaging 0.99
R4647:Ext1 UTSW 15 52,953,383 (GRCm39) missense possibly damaging 0.95
R4648:Ext1 UTSW 15 52,953,383 (GRCm39) missense possibly damaging 0.95
R4871:Ext1 UTSW 15 52,955,773 (GRCm39) missense probably benign 0.37
R4954:Ext1 UTSW 15 53,207,888 (GRCm39) missense probably damaging 1.00
R5010:Ext1 UTSW 15 52,955,808 (GRCm39) missense probably damaging 1.00
R5153:Ext1 UTSW 15 52,939,213 (GRCm39) missense probably damaging 1.00
R5155:Ext1 UTSW 15 52,939,213 (GRCm39) missense probably damaging 1.00
R5328:Ext1 UTSW 15 52,939,213 (GRCm39) missense probably damaging 1.00
R5385:Ext1 UTSW 15 52,939,213 (GRCm39) missense probably damaging 1.00
R5555:Ext1 UTSW 15 52,951,539 (GRCm39) missense probably damaging 1.00
R5779:Ext1 UTSW 15 53,207,949 (GRCm39) missense probably damaging 0.99
R5874:Ext1 UTSW 15 52,965,148 (GRCm39) missense possibly damaging 0.61
R6401:Ext1 UTSW 15 52,969,493 (GRCm39) missense possibly damaging 0.94
R6604:Ext1 UTSW 15 52,946,555 (GRCm39) missense probably damaging 0.99
R6847:Ext1 UTSW 15 53,208,550 (GRCm39) missense probably benign
R6885:Ext1 UTSW 15 52,965,088 (GRCm39) missense probably damaging 1.00
R7212:Ext1 UTSW 15 53,208,558 (GRCm39) missense probably benign 0.00
R7315:Ext1 UTSW 15 52,936,783 (GRCm39) missense probably damaging 1.00
R7361:Ext1 UTSW 15 53,208,119 (GRCm39) missense probably damaging 1.00
R7474:Ext1 UTSW 15 53,207,885 (GRCm39) missense probably damaging 0.98
R7853:Ext1 UTSW 15 52,970,881 (GRCm39) missense probably damaging 0.96
R7860:Ext1 UTSW 15 52,953,335 (GRCm39) missense possibly damaging 0.84
R8013:Ext1 UTSW 15 52,939,283 (GRCm39) missense possibly damaging 0.78
R8014:Ext1 UTSW 15 52,939,283 (GRCm39) missense possibly damaging 0.78
R8725:Ext1 UTSW 15 53,208,065 (GRCm39) missense possibly damaging 0.91
R8888:Ext1 UTSW 15 52,955,723 (GRCm39) missense probably damaging 1.00
R9162:Ext1 UTSW 15 53,208,504 (GRCm39) nonsense probably null
R9342:Ext1 UTSW 15 53,208,524 (GRCm39) missense probably benign
R9587:Ext1 UTSW 15 52,955,808 (GRCm39) missense possibly damaging 0.53
R9663:Ext1 UTSW 15 53,208,456 (GRCm39) missense probably damaging 0.96
R9753:Ext1 UTSW 15 53,208,067 (GRCm39) missense probably damaging 1.00
X0021:Ext1 UTSW 15 53,208,669 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCAGTTGTTAGAAATCTCAGCTC -3'
(R):5'- CGAAACAGTTGTGGGACTCC -3'

Sequencing Primer
(F):5'- TGTTAGAAATCTCAGCTCCGGGC -3'
(R):5'- GGGACTCCACGTTATGAATTAGC -3'
Posted On 2016-10-24