Incidental Mutation 'R6914:Hecw1'
ID 539247
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 045035-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6914 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 14401023-14697813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 14491423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 523 (L523R)
Ref Sequence ENSEMBL: ENSMUSP00000106145 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110516] [ENSMUST00000220718]
AlphaFold Q8K4P8
Predicted Effect probably damaging
Transcript: ENSMUST00000110516
AA Change: L523R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: L523R

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: L110R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Meta Mutation Damage Score 0.1952 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T A 12: 17,061,298 (GRCm39) K17* probably null Het
Abca6 T C 11: 110,081,064 (GRCm39) I1183V probably benign Het
Adap2 A G 11: 80,045,891 (GRCm39) D57G probably benign Het
Atmin G T 8: 117,683,452 (GRCm39) V371F probably benign Het
Cacna1h G T 17: 25,604,013 (GRCm39) A1273E probably benign Het
Cblb G A 16: 51,867,793 (GRCm39) E134K probably damaging Het
Ccdc158 A G 5: 92,809,929 (GRCm39) V193A probably benign Het
Cnot9 T A 1: 74,558,154 (GRCm39) V100E probably damaging Het
Cog2 T A 8: 125,271,875 (GRCm39) V463D probably benign Het
Cracd A T 5: 77,004,854 (GRCm39) Q405L unknown Het
Crybg3 C T 16: 59,360,183 (GRCm39) R2500H possibly damaging Het
Csmd3 C A 15: 47,874,534 (GRCm39) R687S possibly damaging Het
Derl3 A G 10: 75,730,050 (GRCm39) probably null Het
Dipk1c A C 18: 84,748,549 (GRCm39) Y49S possibly damaging Het
Dlc1 T C 8: 37,405,364 (GRCm39) K142E probably benign Het
Dnai1 T G 4: 41,625,176 (GRCm39) M380R probably benign Het
Gas7 A T 11: 67,550,977 (GRCm39) probably null Het
Gpt C A 15: 76,581,792 (GRCm39) Q138K probably benign Het
Greb1 T A 12: 16,757,903 (GRCm39) E748V probably damaging Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Hhatl G A 9: 121,617,246 (GRCm39) A329V probably benign Het
Homer3 C T 8: 70,744,201 (GRCm39) T276I probably benign Het
Igdcc4 G A 9: 65,027,550 (GRCm39) S204N probably benign Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Mccc2 C A 13: 100,126,858 (GRCm39) D137Y probably damaging Het
Nup42 T A 5: 24,386,082 (GRCm39) S205T probably damaging Het
Pde8b T A 13: 95,223,352 (GRCm39) M301L probably benign Het
Pfas C T 11: 68,883,007 (GRCm39) R759Q probably benign Het
Pom121 A T 5: 135,407,011 (GRCm39) F1175I probably damaging Het
Prom2 T G 2: 127,372,295 (GRCm39) I723L possibly damaging Het
Pth1r C T 9: 110,557,084 (GRCm39) probably null Het
Samd8 T C 14: 21,825,221 (GRCm39) I59T possibly damaging Het
Scgb2b18 A G 7: 32,871,564 (GRCm39) V85A possibly damaging Het
Sema6c G T 3: 95,080,519 (GRCm39) V906L probably benign Het
Sipa1l3 T C 7: 29,085,516 (GRCm39) T694A probably damaging Het
Slc26a2 A C 18: 61,332,351 (GRCm39) I360S probably damaging Het
Slc8a1 A G 17: 81,715,549 (GRCm39) L828P probably damaging Het
Spry1 T A 3: 37,697,193 (GRCm39) D145E probably benign Het
Stat6 A T 10: 127,487,131 (GRCm39) N213Y probably damaging Het
Tbx20 T C 9: 24,636,779 (GRCm39) H436R probably benign Het
Tle2 T C 10: 81,422,190 (GRCm39) Y411H probably damaging Het
Tmem45a T C 16: 56,646,145 (GRCm39) N25S probably benign Het
Trip11 T C 12: 101,812,879 (GRCm39) N1485S probably benign Het
Trrap T A 5: 144,720,853 (GRCm39) I230N possibly damaging Het
Vezt A T 10: 93,806,313 (GRCm39) H699Q probably benign Het
Vmn1r43 T A 6: 89,847,319 (GRCm39) I56F 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCAGAGGACTCCTTGAGGGTG -3'
(R):5'- TTCCCCTGGATGAGGATTCG -3'

Sequencing Primer
(F):5'- ACTCCTTGAGGGTGGATTCC -3'
(R):5'- CTGGATGAGGATTCGCCATC -3'
Posted On 2018-11-06