Incidental Mutation 'IGL03366:Hecw1'
ID 420087
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 # IGL03366
Quality Score
Status
Chromosome 13
Chromosomal Location 14401023-14697813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 14552382 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 72 (D72E)
Ref Sequence ENSEMBL: ENSMUSP00000152279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110516] [ENSMUST00000221274] [ENSMUST00000223189] [ENSMUST00000223550]
AlphaFold Q8K4P8
Predicted Effect probably damaging
Transcript: ENSMUST00000110516
AA Change: D71E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: D71E

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: ENSMUST00000221274
AA Change: D50E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222904
Predicted Effect probably damaging
Transcript: ENSMUST00000223189
AA Change: D72E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223317
Predicted Effect probably benign
Transcript: ENSMUST00000223550
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 T A 7: 141,209,186 (GRCm39) S793T probably benign Het
Btnl6 T C 17: 34,727,153 (GRCm39) D459G probably damaging Het
Cacna1g C A 11: 94,347,977 (GRCm39) D704Y probably damaging Het
Cby2 A G 14: 75,820,829 (GRCm39) S299P probably benign Het
Cry2 A G 2: 92,244,060 (GRCm39) I371T probably damaging Het
Dock3 A T 9: 106,882,632 (GRCm39) F384I probably benign Het
Dpp4 T C 2: 62,187,301 (GRCm39) probably null Het
Htt T A 5: 35,064,924 (GRCm39) W3046R probably damaging Het
Hydin A T 8: 110,993,995 (GRCm39) N10Y unknown Het
Ighv8-8 T A 12: 115,257,760 (GRCm39) T94S probably benign Het
Igkv4-58 A G 6: 69,477,538 (GRCm39) S20P probably damaging Het
Il4i1 T C 7: 44,486,919 (GRCm39) probably benign Het
Kif13a A T 13: 46,918,099 (GRCm39) S403T probably benign Het
Klhl40 T C 9: 121,612,446 (GRCm39) L616P probably damaging Het
Krt7 T C 15: 101,325,491 (GRCm39) L440P possibly damaging Het
Lpin1 A G 12: 16,594,678 (GRCm39) L755P probably damaging Het
Magee2 C A X: 103,899,134 (GRCm39) E506* probably null Het
Mast3 G A 8: 71,234,207 (GRCm39) R143* probably null Het
Med12 T A X: 100,321,695 (GRCm39) H459Q probably benign Het
Mmp3 T C 9: 7,450,149 (GRCm39) S294P probably benign Het
Muc6 T C 7: 141,234,349 (GRCm39) Y714C probably damaging Het
Myh2 T C 11: 67,074,349 (GRCm39) L662S probably damaging Het
Notch4 G T 17: 34,791,542 (GRCm39) C567F probably damaging Het
Nprl3 A G 11: 32,200,256 (GRCm39) I20T probably damaging Het
Or10ag2 A T 2: 87,248,587 (GRCm39) D65V possibly damaging Het
Pcdhb19 A G 18: 37,631,665 (GRCm39) T487A possibly damaging Het
Phlpp2 A G 8: 110,667,467 (GRCm39) E1332G probably benign Het
Pick1 T C 15: 79,125,481 (GRCm39) S113P probably damaging Het
Ptpru T C 4: 131,507,178 (GRCm39) E1023G probably damaging Het
Rspry1 A C 8: 95,376,962 (GRCm39) I382L probably benign Het
Sf3b3 A C 8: 111,566,586 (GRCm39) V248G probably damaging Het
Smg5 T A 3: 88,253,759 (GRCm39) Y126* probably null Het
Spin1 T C 13: 51,281,973 (GRCm39) V22A probably benign Het
Stab1 C T 14: 30,872,220 (GRCm39) R1189Q possibly damaging Het
Sytl5 A G X: 9,829,939 (GRCm39) D538G probably damaging Het
Taar7e T A 10: 23,913,813 (GRCm39) M101K probably damaging Het
Taf4 A G 2: 179,576,847 (GRCm39) V578A probably damaging Het
Tmem266 G T 9: 55,344,517 (GRCm39) C383F probably benign Het
Trim34a T C 7: 103,910,140 (GRCm39) probably null Het
Vmn2r104 T C 17: 20,249,866 (GRCm39) T802A probably damaging Het
Vmn2r32 A C 7: 7,467,029 (GRCm39) I833S probably damaging Het
Vmn2r85 T C 10: 130,262,328 (GRCm39) D137G probably benign Het
Vps13c C T 9: 67,853,308 (GRCm39) S2467L probably benign 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
IGL02172:Hecw1 APN 13 14,438,734 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02