Incidental Mutation 'R2054:Hecw1'
ID 226540
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 040059-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2054 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 14401023-14697813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14471998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 557 (M557L)
Ref Sequence ENSEMBL: ENSMUSP00000152215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110516] [ENSMUST00000220718]
AlphaFold Q8K4P8
Predicted Effect probably benign
Transcript: ENSMUST00000110516
AA Change: M984L

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106145
Gene: ENSMUSG00000021301
AA Change: M984L

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: M557L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222241
Meta Mutation Damage Score 0.2745 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,562 (GRCm39) C94S possibly damaging Het
A930011G23Rik T C 5: 99,375,914 (GRCm39) Y432C probably benign Het
Abtb2 A G 2: 103,535,462 (GRCm39) D543G probably benign Het
Adam9 A T 8: 25,481,310 (GRCm39) V318E probably damaging Het
Aim2 T C 1: 173,291,548 (GRCm39) F318L probably damaging Het
Apob A T 12: 8,063,134 (GRCm39) D3872V probably damaging Het
Atat1 T A 17: 36,212,261 (GRCm39) R323W probably null Het
Atp2b4 T C 1: 133,642,907 (GRCm39) D1066G probably benign Het
Bltp1 A G 3: 37,002,002 (GRCm39) T1316A probably benign Het
Caskin2 T C 11: 115,697,127 (GRCm39) probably benign Het
Cblif G A 19: 11,736,370 (GRCm39) V314I probably benign Het
Ccdc54 T A 16: 50,410,987 (GRCm39) N93I probably damaging Het
Ccnd1 A C 7: 144,491,128 (GRCm39) D159E possibly damaging Het
Cnot1 A C 8: 96,466,469 (GRCm39) S1589R possibly damaging Het
Copa T A 1: 171,946,524 (GRCm39) Y980* probably null Het
Defb19 A G 2: 152,418,090 (GRCm39) I82T possibly damaging Het
Elapor2 C A 5: 9,513,030 (GRCm39) T1008K possibly damaging Het
Fiz1 G A 7: 5,011,235 (GRCm39) R428C probably damaging Het
Fnip2 A T 3: 79,479,772 (GRCm39) probably benign Het
Gabrb3 G A 7: 57,474,241 (GRCm39) G408S probably benign Het
Hao1 C T 2: 134,340,178 (GRCm39) silent Het
Itch A T 2: 155,052,496 (GRCm39) I699F probably damaging Het
Kmt2a T C 9: 44,734,671 (GRCm39) probably benign Het
Leng8 T G 7: 4,147,289 (GRCm39) Y562* probably null Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrp1b A T 2: 40,587,494 (GRCm39) N151K unknown Het
Lrrc71 T C 3: 87,649,980 (GRCm39) E316G probably damaging Het
Mgat5 A G 1: 127,325,344 (GRCm39) N404D probably damaging Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Mtor A G 4: 148,547,309 (GRCm39) T431A probably benign Het
Mtor T A 4: 148,550,482 (GRCm39) C713S probably benign Het
Mug2 A G 6: 122,054,451 (GRCm39) K1077E probably damaging Het
Nbas A G 12: 13,524,207 (GRCm39) T1688A probably benign Het
Nek2 T C 1: 191,553,764 (GRCm39) S3P possibly damaging Het
Nell2 T C 15: 95,332,990 (GRCm39) T190A probably benign Het
Npr2 A T 4: 43,646,560 (GRCm39) N636I probably damaging Het
Orc3 A T 4: 34,584,846 (GRCm39) I453K probably damaging Het
Pcnx1 A G 12: 81,980,448 (GRCm39) H865R probably benign Het
Pex1 T C 5: 3,653,341 (GRCm39) V80A possibly damaging Het
Phka2 T A X: 159,337,323 (GRCm39) D424E probably damaging Het
Pkd1 C T 17: 24,793,770 (GRCm39) T1819I probably benign Het
Poglut1 T C 16: 38,355,169 (GRCm39) D219G probably damaging Het
Ppargc1a T C 5: 51,631,130 (GRCm39) I500V possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Pygm C G 19: 6,438,185 (GRCm39) N163K probably benign Het
Qrich1 T A 9: 108,436,469 (GRCm39) N722K possibly damaging Het
Reep6 T A 10: 80,166,156 (GRCm39) C104* probably null Het
Rfx8 A G 1: 39,724,719 (GRCm39) V214A possibly damaging Het
Sis G A 3: 72,820,570 (GRCm39) T1398I probably benign Het
Skint5 A G 4: 113,676,360 (GRCm39) probably null Het
Slc7a14 A G 3: 31,291,511 (GRCm39) probably benign Het
Smc2 T A 4: 52,462,948 (GRCm39) M646K probably benign Het
Snx29 A G 16: 11,449,356 (GRCm39) N165S probably damaging Het
Supt6 T A 11: 78,115,187 (GRCm39) probably benign Het
Tead4 G T 6: 128,247,925 (GRCm39) S37R probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tex56 T A 13: 35,108,574 (GRCm39) Y19N probably damaging Het
Tff2 T C 17: 31,362,199 (GRCm39) K40E probably benign Het
Traip C T 9: 107,840,118 (GRCm39) T265M probably benign Het
Trim47 T C 11: 115,999,109 (GRCm39) T256A probably benign Het
Trpm1 A G 7: 63,890,303 (GRCm39) M853V possibly damaging Het
Tti1 G T 2: 157,849,365 (GRCm39) Q625K possibly damaging Het
Ube2n A G 10: 95,377,128 (GRCm39) N31S probably damaging Het
Vmn2r17 T C 5: 109,600,352 (GRCm39) M550T probably damaging Het
Zfp512 T A 5: 31,622,793 (GRCm39) N31K probably benign Het
Zfp64 A G 2: 168,767,728 (GRCm39) V628A 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
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
Predicted Primers PCR Primer
(F):5'- TGGTGACAGCCCCACATATTG -3'
(R):5'- CGACTATGCCTAGAGGAGTTG -3'

Sequencing Primer
(F):5'- GTGACAGCCCCACATATTGATTATTC -3'
(R):5'- CTTGTTGAGCACTGCTTCTAAAG -3'
Posted On 2014-09-17