Incidental Mutation 'IGL02172:Hecw1'
ID 282937
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hecw1
Ensembl Gene ENSMUSG00000021301
Gene Name HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
Synonyms NEDL1, E130207I19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02172
Quality Score
Status
Chromosome 13
Chromosomal Location 14401023-14697813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14438734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 883 (Y883C)
Ref Sequence ENSEMBL: ENSMUSP00000152215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110516] [ENSMUST00000220718]
AlphaFold Q8K4P8
Predicted Effect probably damaging
Transcript: ENSMUST00000110516
AA Change: Y1310C

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: Y1310C

DomainStartEndE-ValueType
Pfam:HECW_N 65 184 6.5e-62 PFAM
C2 206 317 1.02e-12 SMART
low complexity region 463 477 N/A INTRINSIC
low complexity region 497 512 N/A INTRINSIC
low complexity region 577 598 N/A INTRINSIC
low complexity region 677 704 N/A INTRINSIC
low complexity region 731 745 N/A INTRINSIC
WW 827 859 8.66e-13 SMART
coiled coil region 873 898 N/A INTRINSIC
low complexity region 917 930 N/A INTRINSIC
WW 1017 1049 5.59e-7 SMART
Blast:HECTc 1137 1192 3e-26 BLAST
low complexity region 1193 1208 N/A INTRINSIC
low complexity region 1212 1223 N/A INTRINSIC
HECTc 1267 1604 1.36e-185 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000220718
AA Change: Y883C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222241
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,341,817 (GRCm39) V1048A probably benign Het
Adgre1 C T 17: 57,785,879 (GRCm39) T875I probably damaging Het
Arhgef26 T C 3: 62,367,097 (GRCm39) V810A probably benign Het
Atf1 T A 15: 100,152,322 (GRCm39) V105E probably damaging Het
Bbs9 C T 9: 22,490,772 (GRCm39) T300I possibly damaging Het
Bltp1 T C 3: 37,059,022 (GRCm39) V3236A probably damaging Het
Brd7 G T 8: 89,078,452 (GRCm39) H226Q probably benign Het
Cadps T C 14: 12,705,681 (GRCm38) K238R probably damaging Het
Chordc1 A G 9: 18,213,388 (GRCm39) T80A possibly damaging Het
Clca4a A T 3: 144,676,155 (GRCm39) C126* probably null Het
Col24a1 A T 3: 145,020,723 (GRCm39) T365S probably benign Het
Crb1 C T 1: 139,164,965 (GRCm39) G1053D probably damaging Het
Creb3l4 A T 3: 90,150,082 (GRCm39) S20T probably benign Het
Cyp2c67 C T 19: 39,637,446 (GRCm39) C10Y possibly damaging Het
Dhdh A T 7: 45,125,041 (GRCm39) C294S probably damaging Het
Fam135a A G 1: 24,063,861 (GRCm39) probably null Het
Fsd1 G T 17: 56,297,244 (GRCm39) probably benign Het
Gatad2b A G 3: 90,262,978 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,680,382 (GRCm39) D232G probably damaging Het
Gm10553 T C 1: 85,078,015 (GRCm39) L44P probably damaging Het
Helq A G 5: 100,938,013 (GRCm39) F478L probably damaging Het
Ift172 T C 5: 31,438,681 (GRCm39) probably benign Het
Krtcap3 A C 5: 31,409,397 (GRCm39) T55P probably damaging Het
Megf6 A G 4: 154,355,149 (GRCm39) D1488G probably damaging Het
Mrpl1 T C 5: 96,379,574 (GRCm39) V203A probably damaging Het
Myh2 A T 11: 67,079,878 (GRCm39) D1084V possibly damaging Het
Necap2 T A 4: 140,805,621 (GRCm39) probably benign Het
Nemp1 A G 10: 127,528,868 (GRCm39) S191G probably benign Het
Nrip1 T C 16: 76,088,380 (GRCm39) D1059G probably damaging Het
Ntrk3 A T 7: 78,110,020 (GRCm39) probably benign Het
Or51e1 G A 7: 102,359,051 (GRCm39) R195H probably benign Het
Or51f1d A G 7: 102,700,582 (GRCm39) I26V probably benign Het
Prkdc T G 16: 15,627,623 (GRCm39) V3427G probably benign Het
Ptprn2 A T 12: 116,837,317 (GRCm39) probably benign Het
Ptprt A T 2: 161,397,422 (GRCm39) L1095H probably damaging Het
Ren1 T A 1: 133,286,771 (GRCm39) L300Q possibly damaging Het
Rgl3 A G 9: 21,888,134 (GRCm39) I460T probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 (GRCm39) Q265P probably benign Het
Sh3d21 A G 4: 126,046,153 (GRCm39) S282P probably benign Het
Slc39a13 T C 2: 90,893,505 (GRCm39) E318G possibly damaging Het
Srd5a3 T C 5: 76,295,556 (GRCm39) I82T probably benign Het
Stard7 C A 2: 127,132,792 (GRCm39) T220N probably damaging Het
Tbx4 G A 11: 85,805,389 (GRCm39) G493R possibly damaging Het
Trerf1 A T 17: 47,628,743 (GRCm39) noncoding transcript Het
Trim59 T A 3: 68,944,810 (GRCm39) I177L probably benign Het
Trpm7 T C 2: 126,637,248 (GRCm39) M1789V possibly damaging Het
Tsc22d1 T C 14: 76,655,132 (GRCm39) V455A probably benign Het
Vmn2r118 C A 17: 55,931,598 (GRCm39) M25I probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr90 G A 17: 26,069,408 (GRCm39) T1233I probably benign Het
Zcchc2 G A 1: 105,928,664 (GRCm39) D308N probably benign Het
Zfp57 G T 17: 37,320,481 (GRCm39) V112L possibly damaging Het
Zfp874b A T 13: 67,622,135 (GRCm39) Y388N probably damaging Het
Other mutations in Hecw1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Hecw1 APN 13 14,440,565 (GRCm39) missense possibly damaging 0.71
IGL00813:Hecw1 APN 13 14,452,961 (GRCm39) critical splice acceptor site probably null
IGL00843:Hecw1 APN 13 14,422,158 (GRCm39) missense probably benign 0.02
IGL00942:Hecw1 APN 13 14,515,325 (GRCm39) splice site probably benign
IGL00976:Hecw1 APN 13 14,493,557 (GRCm39) missense probably damaging 1.00
IGL01289:Hecw1 APN 13 14,438,719 (GRCm39) missense probably damaging 1.00
IGL01675:Hecw1 APN 13 14,409,007 (GRCm39) missense probably damaging 1.00
IGL01783:Hecw1 APN 13 14,452,878 (GRCm39) missense probably damaging 1.00
IGL01941:Hecw1 APN 13 14,490,895 (GRCm39) missense probably benign 0.01
IGL02170:Hecw1 APN 13 14,438,743 (GRCm39) missense possibly damaging 0.75
IGL02214:Hecw1 APN 13 14,474,978 (GRCm39) missense probably damaging 1.00
IGL02350:Hecw1 APN 13 14,422,923 (GRCm39) splice site probably null
IGL02357:Hecw1 APN 13 14,422,923 (GRCm39) splice site probably null
IGL02372:Hecw1 APN 13 14,438,706 (GRCm39) missense probably damaging 1.00
IGL02591:Hecw1 APN 13 14,531,821 (GRCm39) splice site probably benign
IGL02718:Hecw1 APN 13 14,481,520 (GRCm39) critical splice acceptor site probably null
IGL02795:Hecw1 APN 13 14,497,102 (GRCm39) missense probably damaging 1.00
IGL02941:Hecw1 APN 13 14,552,311 (GRCm39) missense probably damaging 1.00
IGL03256:Hecw1 APN 13 14,455,070 (GRCm39) missense probably benign 0.36
IGL03256:Hecw1 APN 13 14,455,069 (GRCm39) missense probably damaging 0.99
IGL03366:Hecw1 APN 13 14,552,382 (GRCm39) missense probably damaging 1.00
deflated UTSW 13 14,422,205 (GRCm39) missense possibly damaging 0.69
Demoralized UTSW 13 14,491,403 (GRCm39) nonsense probably null
Letdown UTSW 13 14,491,077 (GRCm39) missense probably benign 0.40
BB001:Hecw1 UTSW 13 14,497,113 (GRCm39) missense probably damaging 1.00
BB011:Hecw1 UTSW 13 14,497,113 (GRCm39) missense probably damaging 1.00
IGL03014:Hecw1 UTSW 13 14,420,393 (GRCm39) missense probably damaging 1.00
PIT4378001:Hecw1 UTSW 13 14,552,368 (GRCm39) missense probably damaging 0.98
R0555:Hecw1 UTSW 13 14,411,526 (GRCm39) missense probably damaging 1.00
R0617:Hecw1 UTSW 13 14,455,027 (GRCm39) missense probably benign 0.44
R1476:Hecw1 UTSW 13 14,480,671 (GRCm39) missense probably damaging 1.00
R1479:Hecw1 UTSW 13 14,491,077 (GRCm39) missense probably benign 0.40
R1551:Hecw1 UTSW 13 14,491,528 (GRCm39) missense probably damaging 1.00
R1579:Hecw1 UTSW 13 14,552,492 (GRCm39) missense probably damaging 1.00
R1584:Hecw1 UTSW 13 14,515,328 (GRCm39) critical splice donor site probably null
R1735:Hecw1 UTSW 13 14,552,350 (GRCm39) missense probably null 0.09
R1872:Hecw1 UTSW 13 14,455,034 (GRCm39) nonsense probably null
R1897:Hecw1 UTSW 13 14,552,525 (GRCm39) missense probably damaging 1.00
R2054:Hecw1 UTSW 13 14,471,998 (GRCm39) missense probably damaging 0.97
R2085:Hecw1 UTSW 13 14,438,672 (GRCm39) missense possibly damaging 0.93
R2134:Hecw1 UTSW 13 14,552,285 (GRCm39) missense probably damaging 1.00
R2172:Hecw1 UTSW 13 14,552,291 (GRCm39) missense probably damaging 1.00
R2258:Hecw1 UTSW 13 14,490,723 (GRCm39) missense probably benign 0.01
R2274:Hecw1 UTSW 13 14,520,653 (GRCm39) missense probably benign 0.00
R2275:Hecw1 UTSW 13 14,520,653 (GRCm39) missense probably benign 0.00
R2937:Hecw1 UTSW 13 14,420,421 (GRCm39) missense possibly damaging 0.93
R3830:Hecw1 UTSW 13 14,520,643 (GRCm39) missense probably benign 0.13
R3971:Hecw1 UTSW 13 14,411,514 (GRCm39) missense probably damaging 1.00
R4065:Hecw1 UTSW 13 14,491,016 (GRCm39) missense probably damaging 1.00
R4066:Hecw1 UTSW 13 14,491,016 (GRCm39) missense probably damaging 1.00
R4235:Hecw1 UTSW 13 14,491,724 (GRCm39) missense probably benign 0.42
R4366:Hecw1 UTSW 13 14,490,749 (GRCm39) missense probably damaging 1.00
R4382:Hecw1 UTSW 13 14,490,749 (GRCm39) missense probably damaging 1.00
R4385:Hecw1 UTSW 13 14,490,749 (GRCm39) missense probably damaging 1.00
R4510:Hecw1 UTSW 13 14,531,776 (GRCm39) missense probably damaging 1.00
R4511:Hecw1 UTSW 13 14,531,776 (GRCm39) missense probably damaging 1.00
R4558:Hecw1 UTSW 13 14,422,190 (GRCm39) missense probably damaging 0.99
R4804:Hecw1 UTSW 13 14,480,570 (GRCm39) missense probably benign 0.00
R4854:Hecw1 UTSW 13 14,491,477 (GRCm39) missense probably benign 0.00
R5104:Hecw1 UTSW 13 14,515,377 (GRCm39) missense probably damaging 1.00
R5113:Hecw1 UTSW 13 14,520,614 (GRCm39) missense possibly damaging 0.94
R5167:Hecw1 UTSW 13 14,460,242 (GRCm39) missense probably damaging 1.00
R5392:Hecw1 UTSW 13 14,420,347 (GRCm39) missense probably damaging 1.00
R5394:Hecw1 UTSW 13 14,497,174 (GRCm39) missense probably damaging 1.00
R5504:Hecw1 UTSW 13 14,515,487 (GRCm39) missense probably benign 0.04
R5764:Hecw1 UTSW 13 14,497,094 (GRCm39) missense probably damaging 1.00
R6038:Hecw1 UTSW 13 14,520,647 (GRCm39) missense probably benign 0.28
R6038:Hecw1 UTSW 13 14,520,647 (GRCm39) missense probably benign 0.28
R6228:Hecw1 UTSW 13 14,520,623 (GRCm39) missense probably damaging 1.00
R6247:Hecw1 UTSW 13 14,409,010 (GRCm39) nonsense probably null
R6252:Hecw1 UTSW 13 14,446,664 (GRCm39) missense probably damaging 0.98
R6291:Hecw1 UTSW 13 14,697,592 (GRCm39) unclassified probably benign
R6321:Hecw1 UTSW 13 14,697,414 (GRCm39) missense probably benign 0.00
R6325:Hecw1 UTSW 13 14,491,031 (GRCm39) missense probably damaging 1.00
R6328:Hecw1 UTSW 13 14,422,205 (GRCm39) missense possibly damaging 0.69
R6557:Hecw1 UTSW 13 14,491,231 (GRCm39) missense possibly damaging 0.78
R6566:Hecw1 UTSW 13 14,471,868 (GRCm39) missense probably damaging 1.00
R6597:Hecw1 UTSW 13 14,491,403 (GRCm39) nonsense probably null
R6821:Hecw1 UTSW 13 14,438,719 (GRCm39) missense probably damaging 1.00
R6914:Hecw1 UTSW 13 14,491,423 (GRCm39) missense probably damaging 0.99
R7078:Hecw1 UTSW 13 14,609,044 (GRCm39) start codon destroyed probably null 0.21
R7114:Hecw1 UTSW 13 14,486,356 (GRCm39) missense probably benign 0.02
R7140:Hecw1 UTSW 13 14,491,118 (GRCm39) missense probably benign
R7150:Hecw1 UTSW 13 14,609,045 (GRCm39) start codon destroyed probably benign
R7288:Hecw1 UTSW 13 14,490,821 (GRCm39) missense probably benign 0.00
R7447:Hecw1 UTSW 13 14,531,789 (GRCm39) missense probably damaging 1.00
R7479:Hecw1 UTSW 13 14,515,425 (GRCm39) missense probably damaging 1.00
R7552:Hecw1 UTSW 13 14,490,835 (GRCm39) missense probably damaging 0.99
R7590:Hecw1 UTSW 13 14,438,668 (GRCm39) missense probably damaging 1.00
R7787:Hecw1 UTSW 13 14,493,494 (GRCm39) missense probably damaging 1.00
R7803:Hecw1 UTSW 13 14,408,927 (GRCm39) missense probably benign 0.25
R7924:Hecw1 UTSW 13 14,497,113 (GRCm39) missense probably damaging 1.00
R7967:Hecw1 UTSW 13 14,552,332 (GRCm39) missense probably damaging 1.00
R8176:Hecw1 UTSW 13 14,422,286 (GRCm39) splice site probably null
R8195:Hecw1 UTSW 13 14,480,692 (GRCm39) missense probably damaging 0.99
R8252:Hecw1 UTSW 13 14,515,425 (GRCm39) missense probably damaging 1.00
R8696:Hecw1 UTSW 13 14,531,743 (GRCm39) missense possibly damaging 0.93
R8827:Hecw1 UTSW 13 14,438,720 (GRCm39) missense probably damaging 1.00
R8867:Hecw1 UTSW 13 14,422,275 (GRCm39) critical splice acceptor site probably null
R8914:Hecw1 UTSW 13 14,422,188 (GRCm39) missense probably damaging 1.00
R8942:Hecw1 UTSW 13 14,481,395 (GRCm39) missense probably benign 0.28
R9126:Hecw1 UTSW 13 14,546,608 (GRCm39) missense probably damaging 1.00
R9185:Hecw1 UTSW 13 14,491,628 (GRCm39) missense probably damaging 0.99
R9203:Hecw1 UTSW 13 14,491,243 (GRCm39) missense probably benign 0.00
R9236:Hecw1 UTSW 13 14,490,643 (GRCm39) missense possibly damaging 0.61
R9291:Hecw1 UTSW 13 14,491,522 (GRCm39) missense probably benign
R9312:Hecw1 UTSW 13 14,546,567 (GRCm39) missense probably damaging 0.99
R9438:Hecw1 UTSW 13 14,481,414 (GRCm39) missense probably benign 0.00
R9502:Hecw1 UTSW 13 14,546,567 (GRCm39) missense probably damaging 0.97
R9642:Hecw1 UTSW 13 14,515,394 (GRCm39) missense probably damaging 1.00
RF001:Hecw1 UTSW 13 14,472,009 (GRCm39) missense probably damaging 1.00
X0020:Hecw1 UTSW 13 14,405,308 (GRCm39) missense possibly damaging 0.52
X0066:Hecw1 UTSW 13 14,455,045 (GRCm39) missense probably benign 0.13
Z1176:Hecw1 UTSW 13 14,474,918 (GRCm39) missense possibly damaging 0.77
Posted On 2015-04-16