Incidental Mutation 'R8696:Hecw1'
ID 668725
Institutional Source Beutler Lab
Gene Symbol Hecw1
Ensembl Gene ENSMUSG00000021301
Gene Name HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
Synonyms NEDL1, E130207I19Rik
MMRRC Submission 068550-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8696 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 14401023-14697813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14531743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 177 (V177A)
Ref Sequence ENSEMBL: ENSMUSP00000106145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110516]
AlphaFold Q8K4P8
Predicted Effect possibly damaging
Transcript: ENSMUST00000110516
AA Change: V177A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: V177A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,687,235 (GRCm39) N423S probably benign Het
Adgrl4 T C 3: 151,248,344 (GRCm39) L672P probably damaging Het
Akr1b10 C T 6: 34,369,067 (GRCm39) T182I possibly damaging Het
Ankrd33 A G 15: 101,014,864 (GRCm39) I84V probably benign Het
Arhgap32 A G 9: 32,159,799 (GRCm39) Y272C possibly damaging Het
Arid4a T C 12: 71,110,090 (GRCm39) S144P probably damaging Het
Bicd1 A G 6: 149,415,285 (GRCm39) D666G probably damaging Het
Blk A T 14: 63,618,149 (GRCm39) probably benign Het
Btbd2 C T 10: 80,480,515 (GRCm39) R366Q possibly damaging Het
Cacna1i T C 15: 80,266,175 (GRCm39) V1554A probably damaging Het
Camsap3 T C 8: 3,653,614 (GRCm39) L428P probably damaging Het
Ccdc30 T G 4: 119,234,505 (GRCm39) Y69S possibly damaging Het
Ccdc7a T A 8: 129,715,244 (GRCm39) E280V probably damaging Het
Cdk11b T C 4: 155,732,779 (GRCm39) V539A unknown Het
Ceacam3 A T 7: 16,893,937 (GRCm39) N483Y Het
Cenpf C T 1: 189,390,194 (GRCm39) A1213T probably benign Het
Chrna6 G T 8: 27,897,195 (GRCm39) Y227* probably null Het
Cntnap5c A T 17: 58,601,294 (GRCm39) D814V probably damaging Het
Csl A T 10: 99,594,826 (GRCm39) Y80N probably damaging Het
Ctsm A G 13: 61,685,521 (GRCm39) L297P probably damaging Het
Cyp4a31 G A 4: 115,422,225 (GRCm39) E70K probably benign Het
Dhx8 T C 11: 101,623,958 (GRCm39) V31A unknown Het
Dis3l2 G T 1: 86,719,162 (GRCm39) G131* probably null Het
Dkk1 G A 19: 30,526,688 (GRCm39) A31V probably damaging Het
Dlx3 C T 11: 95,012,596 (GRCm39) R130* probably null Het
Dnajc24 T C 2: 105,832,315 (GRCm39) M23V probably benign Het
Dnmbp T A 19: 43,862,662 (GRCm39) N76I probably damaging Het
Ezh1 T C 11: 101,100,305 (GRCm39) N226S probably benign Het
Fabp9 C T 3: 10,259,047 (GRCm39) V120M possibly damaging Het
Fcrlb A G 1: 170,739,648 (GRCm39) C85R probably damaging Het
Gnai2 A C 9: 107,496,968 (GRCm39) L131R Het
Gprin1 A G 13: 54,885,764 (GRCm39) W837R probably damaging Het
Grm3 C T 5: 9,562,311 (GRCm39) C513Y probably damaging Het
H60c T A 10: 3,210,265 (GRCm39) I95F possibly damaging Het
Herc6 T A 6: 57,624,134 (GRCm39) C635S probably benign Het
Itga4 A T 2: 79,112,125 (GRCm39) M347L probably benign Het
Kif20b A G 19: 34,914,752 (GRCm39) H436R probably benign Het
Klrg2 G T 6: 38,613,430 (GRCm39) P191Q possibly damaging Het
Krt5 A G 15: 101,618,742 (GRCm39) Y340H probably damaging Het
Map9 T A 3: 82,270,668 (GRCm39) H77Q possibly damaging Het
Mfsd13a A G 19: 46,356,557 (GRCm39) T221A probably benign Het
Myo10 C G 15: 25,799,572 (GRCm39) H1378Q probably damaging Het
Nkx6-1 T C 5: 101,807,513 (GRCm39) T290A possibly damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Notch1 T A 2: 26,368,004 (GRCm39) probably benign Het
Nr1d2 A T 14: 18,216,661 (GRCm38) M169K probably damaging Het
Or10ak8 C T 4: 118,774,635 (GRCm39) V10I probably benign Het
Or11g1 A G 14: 50,651,420 (GRCm39) M140V possibly damaging Het
Or13c7c A G 4: 43,836,193 (GRCm39) V99A probably benign Het
Or6c69b A T 10: 129,626,562 (GRCm39) F299I possibly damaging Het
Or8b41 A G 9: 38,054,433 (GRCm39) M1V probably null Het
Pdia6 T A 12: 17,329,662 (GRCm39) I266K probably damaging Het
Phactr4 T C 4: 132,091,105 (GRCm39) probably null Het
Polr1b T A 2: 128,967,571 (GRCm39) L988Q probably damaging Het
Por A T 5: 135,763,112 (GRCm39) M541L probably benign Het
Ppid T C 3: 79,498,689 (GRCm39) probably benign Het
Prp2 A T 6: 132,577,322 (GRCm39) Q203L unknown Het
Psme4 T G 11: 30,759,896 (GRCm39) F340V probably damaging Het
Ptges2 T C 2: 32,290,077 (GRCm39) S164P probably damaging Het
Rab18 G A 18: 6,788,635 (GRCm39) G201S probably damaging Het
Rbm19 A G 5: 120,265,132 (GRCm39) E391G probably damaging Het
Rcbtb2 T G 14: 73,404,305 (GRCm39) V259G probably damaging Het
Rpn1 C A 6: 88,080,359 (GRCm39) Q553K possibly damaging Het
Sash1 A G 10: 8,609,459 (GRCm39) S697P probably damaging Het
Sdad1 T G 5: 92,437,645 (GRCm39) H603P probably damaging Het
Serpini1 T C 3: 75,520,544 (GRCm39) L47P probably damaging Het
Sorbs2 T A 8: 46,248,686 (GRCm39) S646T possibly damaging Het
Spdye4a T A 5: 143,210,754 (GRCm39) E105D probably benign Het
Srsf12 G A 4: 33,231,181 (GRCm39) C230Y possibly damaging Het
Stard9 A T 2: 120,531,595 (GRCm39) R2617S probably benign Het
Tas2r118 G T 6: 23,969,344 (GRCm39) T239K probably damaging Het
Tlr1 A G 5: 65,084,094 (GRCm39) L161P probably benign Het
Ttc21a T G 9: 119,772,977 (GRCm39) V218G possibly damaging Het
Ttc6 T C 12: 57,784,492 (GRCm39) S1854P probably benign Het
Unc93a A G 17: 13,341,852 (GRCm39) L93P probably damaging Het
Vcan A T 13: 89,839,217 (GRCm39) I2109N probably benign Het
Vmn1r225 A T 17: 20,723,419 (GRCm39) S287C probably damaging Het
Vmn1r43 A G 6: 89,847,321 (GRCm39) F55S probably damaging Het
Zfp772 T C 7: 7,208,518 (GRCm39) T109A possibly damaging Het
Zfp87 A G 13: 74,520,599 (GRCm39) Y160H 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
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
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
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
Predicted Primers PCR Primer
(F):5'- TTCACATAAGTGTAGGCGTGAG -3'
(R):5'- TTGAAAGACAGACTGGTCCAGG -3'

Sequencing Primer
(F):5'- CGTGAGAAATTGCAGATGTGTACAC -3'
(R):5'- ACATGCTGGCTCTTGAGAG -3'
Posted On 2021-04-30