Incidental Mutation 'R1165:Hectd1'
ID 100964
Institutional Source Beutler Lab
Gene Symbol Hectd1
Ensembl Gene ENSMUSG00000035247
Gene Name HECT domain E3 ubiquitin protein ligase 1
Synonyms A630086P08Rik, b2b327Clo, opm
MMRRC Submission 039238-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1165 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 51790505-51876319 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 51810947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042052] [ENSMUST00000179265]
AlphaFold Q69ZR2
Predicted Effect probably benign
Transcript: ENSMUST00000042052
SMART Domains Protein: ENSMUSP00000046766
Gene: ENSMUSG00000035247

DomainStartEndE-ValueType
low complexity region 317 331 N/A INTRINSIC
ANK 395 424 1.44e-1 SMART
ANK 426 455 2.81e-4 SMART
ANK 459 488 1.55e2 SMART
low complexity region 490 509 N/A INTRINSIC
low complexity region 630 654 N/A INTRINSIC
low complexity region 707 723 N/A INTRINSIC
low complexity region 821 832 N/A INTRINSIC
Pfam:Sad1_UNC 1107 1240 9.2e-27 PFAM
low complexity region 1259 1271 N/A INTRINSIC
Pfam:MIB_HERC2 1277 1338 7.6e-27 PFAM
low complexity region 1373 1401 N/A INTRINSIC
low complexity region 1441 1458 N/A INTRINSIC
low complexity region 1484 1495 N/A INTRINSIC
low complexity region 1508 1524 N/A INTRINSIC
low complexity region 1600 1630 N/A INTRINSIC
low complexity region 1633 1651 N/A INTRINSIC
low complexity region 1674 1703 N/A INTRINSIC
low complexity region 1745 1752 N/A INTRINSIC
PDB:2LC3|A 1879 1966 4e-57 PDB
low complexity region 2101 2117 N/A INTRINSIC
HECTc 2143 2610 8.32e-76 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179265
SMART Domains Protein: ENSMUSP00000136449
Gene: ENSMUSG00000035247

DomainStartEndE-ValueType
low complexity region 317 331 N/A INTRINSIC
ANK 396 425 1.44e-1 SMART
ANK 427 456 2.81e-4 SMART
ANK 460 489 1.55e2 SMART
low complexity region 491 510 N/A INTRINSIC
low complexity region 631 655 N/A INTRINSIC
low complexity region 708 724 N/A INTRINSIC
low complexity region 822 833 N/A INTRINSIC
Pfam:Sad1_UNC 1112 1245 1.3e-26 PFAM
low complexity region 1264 1276 N/A INTRINSIC
Pfam:MIB_HERC2 1282 1341 5.3e-26 PFAM
low complexity region 1378 1406 N/A INTRINSIC
low complexity region 1446 1463 N/A INTRINSIC
low complexity region 1489 1500 N/A INTRINSIC
low complexity region 1513 1529 N/A INTRINSIC
low complexity region 1605 1635 N/A INTRINSIC
low complexity region 1638 1656 N/A INTRINSIC
low complexity region 1679 1708 N/A INTRINSIC
low complexity region 1750 1757 N/A INTRINSIC
PDB:2LC3|A 1884 1971 3e-57 PDB
low complexity region 2106 2122 N/A INTRINSIC
HECTc 2148 2618 4.5e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218626
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 98% (50/51)
MGI Phenotype PHENOTYPE: Mice that are homozygous for either a gene trapped or an ENU-induced allele exhibit exencephaly associated with impaired head mesenchyme development and neural tube closure, and show eye and cranial vault dysplasia. Homozygotes for another ENU-induced allele show congenital cardiovascular defects. [provided by MGI curators]
Allele List at MGI

All alleles(30) : Gene trapped(29) Chemically induced(1)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T G 13: 77,482,406 (GRCm39) C1209G probably benign Het
Abcg2 C A 6: 58,655,285 (GRCm39) L407I probably benign Het
Adtrp A G 13: 41,967,779 (GRCm39) V56A probably damaging Het
Angptl6 T G 9: 20,789,604 (GRCm39) N96T probably benign Het
Ank3 C A 10: 69,734,132 (GRCm39) N780K possibly damaging Het
AU040320 A T 4: 126,717,433 (GRCm39) probably benign Het
Best2 C T 8: 85,737,789 (GRCm39) R202H probably benign Het
Bod1l A T 5: 41,978,396 (GRCm39) S973T probably benign Het
Brca2 T A 5: 150,466,212 (GRCm39) V1992E probably damaging Het
Casp8ap2 C T 4: 32,640,563 (GRCm39) P539L probably benign Het
Ccr1 A T 9: 123,763,531 (GRCm39) V333E possibly damaging Het
Celf5 A T 10: 81,307,172 (GRCm39) V83E probably damaging Het
Col15a1 T C 4: 47,257,275 (GRCm39) probably benign Het
Coro1b C A 19: 4,199,901 (GRCm39) H81N probably damaging Het
Cwc22 A T 2: 77,734,242 (GRCm39) S686T probably damaging Het
Cyp2d26 C A 15: 82,678,242 (GRCm39) G45W probably damaging Het
Dysf T A 6: 84,044,051 (GRCm39) N297K probably damaging Het
Edem1 T A 6: 108,828,214 (GRCm39) L513Q probably damaging Het
Erich1 G A 8: 14,140,530 (GRCm39) probably benign Het
Fam91a1 T C 15: 58,302,518 (GRCm39) V286A possibly damaging Het
Fdxr C A 11: 115,162,608 (GRCm39) probably benign Het
Gas7 T C 11: 67,561,512 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,705,397 (GRCm39) D151G probably damaging Het
Gm14410 A C 2: 176,885,282 (GRCm39) Y327* probably null Het
Grep1 A C 17: 23,929,489 (GRCm39) probably benign Het
H6pd A G 4: 150,080,413 (GRCm39) I136T possibly damaging Het
Hipk1 T C 3: 103,668,840 (GRCm39) T519A possibly damaging Het
Hpd A G 5: 123,314,153 (GRCm39) probably null Het
Insyn2b A G 11: 34,352,740 (GRCm39) T261A probably benign Het
Or6c76 A G 10: 129,612,302 (GRCm39) D188G probably damaging Het
Or7c19 T A 8: 85,957,400 (GRCm39) I92N probably damaging Het
Pcdha11 A G 18: 37,140,757 (GRCm39) probably benign Het
Pdgfrb T C 18: 61,197,074 (GRCm39) I170T probably benign Het
Rasgrp1 A T 2: 117,115,420 (GRCm39) F723I possibly damaging Het
Retnlg A G 16: 48,694,017 (GRCm39) T58A possibly damaging Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Rtel1 A G 2: 180,976,732 (GRCm39) K243E probably benign Het
Slc19a2 G A 1: 164,091,014 (GRCm39) G274D probably damaging Het
Slc22a27 T C 19: 7,887,059 (GRCm39) probably null Het
Slc6a1 T C 6: 114,288,790 (GRCm39) F266L probably damaging Het
Snx25 T G 8: 46,488,752 (GRCm39) I868L probably damaging Het
Spag16 A G 1: 70,036,036 (GRCm39) I355V probably benign Het
Tmem198 A T 1: 75,456,576 (GRCm39) probably benign Het
Traf3ip3 A C 1: 192,866,786 (GRCm39) S349A probably damaging Het
Trim17 A G 11: 58,862,041 (GRCm39) N358D possibly damaging Het
Trmu A G 15: 85,776,875 (GRCm39) T196A probably damaging Het
Tsen2 A G 6: 115,538,396 (GRCm39) Y291C probably damaging Het
Vps13d A G 4: 144,853,041 (GRCm39) F2358L probably benign Het
Wnt2 T C 6: 17,989,946 (GRCm39) H317R probably benign Het
Zfp120 A T 2: 149,961,849 (GRCm39) V33E probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Other mutations in Hectd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Hectd1 APN 12 51,806,215 (GRCm39) missense probably benign
IGL00402:Hectd1 APN 12 51,815,891 (GRCm39) missense possibly damaging 0.94
IGL00419:Hectd1 APN 12 51,810,818 (GRCm39) missense probably damaging 0.99
IGL00518:Hectd1 APN 12 51,823,272 (GRCm39) splice site probably benign
IGL00565:Hectd1 APN 12 51,837,181 (GRCm39) missense probably damaging 0.97
IGL00574:Hectd1 APN 12 51,820,787 (GRCm39) missense probably benign 0.17
IGL00576:Hectd1 APN 12 51,806,092 (GRCm39) missense probably damaging 0.99
IGL00788:Hectd1 APN 12 51,795,571 (GRCm39) missense probably damaging 0.99
IGL00978:Hectd1 APN 12 51,838,173 (GRCm39) missense possibly damaging 0.95
IGL01328:Hectd1 APN 12 51,807,904 (GRCm39) missense probably damaging 1.00
IGL01337:Hectd1 APN 12 51,849,057 (GRCm39) missense possibly damaging 0.95
IGL01634:Hectd1 APN 12 51,850,562 (GRCm39) missense probably damaging 0.98
IGL01731:Hectd1 APN 12 51,849,593 (GRCm39) missense possibly damaging 0.59
IGL01920:Hectd1 APN 12 51,829,337 (GRCm39) missense probably damaging 0.99
IGL01951:Hectd1 APN 12 51,841,280 (GRCm39) nonsense probably null
IGL01994:Hectd1 APN 12 51,844,725 (GRCm39) missense probably damaging 0.99
IGL02140:Hectd1 APN 12 51,820,920 (GRCm39) missense probably damaging 0.99
IGL02150:Hectd1 APN 12 51,815,974 (GRCm39) missense probably damaging 0.97
IGL02156:Hectd1 APN 12 51,800,916 (GRCm39) splice site probably benign
IGL02177:Hectd1 APN 12 51,819,103 (GRCm39) missense probably damaging 0.99
IGL02502:Hectd1 APN 12 51,844,635 (GRCm39) missense possibly damaging 0.77
IGL02505:Hectd1 APN 12 51,847,496 (GRCm39) critical splice donor site probably null
IGL02519:Hectd1 APN 12 51,815,894 (GRCm39) missense probably damaging 0.99
IGL02624:Hectd1 APN 12 51,809,233 (GRCm39) missense possibly damaging 0.61
IGL02833:Hectd1 APN 12 51,810,864 (GRCm39) missense probably damaging 0.96
IGL02851:Hectd1 APN 12 51,814,423 (GRCm39) missense possibly damaging 0.94
IGL02866:Hectd1 APN 12 51,837,396 (GRCm39) missense probably damaging 1.00
IGL02981:Hectd1 APN 12 51,815,670 (GRCm39) missense possibly damaging 0.70
IGL02987:Hectd1 APN 12 51,791,550 (GRCm39) missense probably damaging 1.00
IGL02999:Hectd1 APN 12 51,874,205 (GRCm39) missense possibly damaging 0.77
IGL03071:Hectd1 APN 12 51,815,957 (GRCm39) missense probably benign 0.00
IGL03078:Hectd1 APN 12 51,849,019 (GRCm39) missense probably damaging 0.98
IGL03299:Hectd1 APN 12 51,847,671 (GRCm39) splice site probably benign
3-1:Hectd1 UTSW 12 51,800,590 (GRCm39) missense probably damaging 0.99
R0039:Hectd1 UTSW 12 51,800,608 (GRCm39) missense possibly damaging 0.83
R0238:Hectd1 UTSW 12 51,816,101 (GRCm39) missense possibly damaging 0.72
R0238:Hectd1 UTSW 12 51,816,101 (GRCm39) missense possibly damaging 0.72
R0239:Hectd1 UTSW 12 51,816,101 (GRCm39) missense possibly damaging 0.72
R0239:Hectd1 UTSW 12 51,816,101 (GRCm39) missense possibly damaging 0.72
R0268:Hectd1 UTSW 12 51,815,891 (GRCm39) missense possibly damaging 0.94
R0268:Hectd1 UTSW 12 51,815,890 (GRCm39) missense probably damaging 0.99
R0409:Hectd1 UTSW 12 51,829,339 (GRCm39) missense possibly damaging 0.59
R1019:Hectd1 UTSW 12 51,795,440 (GRCm39) missense probably damaging 0.99
R1072:Hectd1 UTSW 12 51,807,855 (GRCm39) missense probably benign 0.11
R1087:Hectd1 UTSW 12 51,823,355 (GRCm39) missense probably damaging 0.99
R1350:Hectd1 UTSW 12 51,809,217 (GRCm39) missense probably benign
R1553:Hectd1 UTSW 12 51,820,661 (GRCm39) missense probably damaging 0.98
R1666:Hectd1 UTSW 12 51,800,607 (GRCm39) missense possibly damaging 0.91
R1676:Hectd1 UTSW 12 51,791,571 (GRCm39) missense probably damaging 1.00
R1694:Hectd1 UTSW 12 51,791,375 (GRCm39) missense probably damaging 1.00
R1778:Hectd1 UTSW 12 51,800,590 (GRCm39) missense probably damaging 0.99
R1856:Hectd1 UTSW 12 51,791,577 (GRCm39) missense probably damaging 1.00
R1859:Hectd1 UTSW 12 51,853,350 (GRCm39) missense probably damaging 1.00
R1884:Hectd1 UTSW 12 51,847,738 (GRCm39) missense probably benign 0.00
R1982:Hectd1 UTSW 12 51,832,624 (GRCm39) missense probably damaging 0.97
R2034:Hectd1 UTSW 12 51,803,899 (GRCm39) splice site probably null
R2061:Hectd1 UTSW 12 51,841,227 (GRCm39) missense probably damaging 0.99
R2078:Hectd1 UTSW 12 51,795,325 (GRCm39) missense probably damaging 0.99
R2176:Hectd1 UTSW 12 51,792,277 (GRCm39) missense probably damaging 1.00
R2210:Hectd1 UTSW 12 51,853,245 (GRCm39) missense probably damaging 0.99
R2248:Hectd1 UTSW 12 51,853,254 (GRCm39) missense probably damaging 0.99
R2282:Hectd1 UTSW 12 51,815,791 (GRCm39) missense possibly damaging 0.95
R2402:Hectd1 UTSW 12 51,792,317 (GRCm39) missense probably benign 0.01
R3876:Hectd1 UTSW 12 51,815,513 (GRCm39) missense probably damaging 0.98
R4027:Hectd1 UTSW 12 51,849,219 (GRCm39) critical splice acceptor site probably null
R4085:Hectd1 UTSW 12 51,821,533 (GRCm39) missense possibly damaging 0.93
R4115:Hectd1 UTSW 12 51,815,506 (GRCm39) nonsense probably null
R4116:Hectd1 UTSW 12 51,815,506 (GRCm39) nonsense probably null
R4169:Hectd1 UTSW 12 51,837,008 (GRCm39) missense probably damaging 0.97
R4434:Hectd1 UTSW 12 51,798,835 (GRCm39) missense probably damaging 1.00
R4507:Hectd1 UTSW 12 51,837,276 (GRCm39) missense probably damaging 0.97
R4578:Hectd1 UTSW 12 51,798,715 (GRCm39) missense probably damaging 1.00
R4579:Hectd1 UTSW 12 51,791,356 (GRCm39) missense probably damaging 0.97
R4709:Hectd1 UTSW 12 51,834,695 (GRCm39) missense possibly damaging 0.94
R4812:Hectd1 UTSW 12 51,874,134 (GRCm39) critical splice donor site probably null
R4883:Hectd1 UTSW 12 51,831,030 (GRCm39) nonsense probably null
R4885:Hectd1 UTSW 12 51,847,505 (GRCm39) missense probably damaging 0.97
R4975:Hectd1 UTSW 12 51,809,280 (GRCm39) missense probably benign 0.02
R4983:Hectd1 UTSW 12 51,831,045 (GRCm39) missense probably benign 0.01
R5007:Hectd1 UTSW 12 51,849,443 (GRCm39) missense possibly damaging 0.95
R5046:Hectd1 UTSW 12 51,797,171 (GRCm39) missense probably damaging 1.00
R5062:Hectd1 UTSW 12 51,791,662 (GRCm39) missense probably damaging 0.98
R5164:Hectd1 UTSW 12 51,874,272 (GRCm39) start codon destroyed probably null 0.60
R5213:Hectd1 UTSW 12 51,849,316 (GRCm39) critical splice donor site probably null
R5535:Hectd1 UTSW 12 51,849,109 (GRCm39) missense probably damaging 0.98
R5776:Hectd1 UTSW 12 51,810,897 (GRCm39) missense possibly damaging 0.91
R5846:Hectd1 UTSW 12 51,820,618 (GRCm39) missense probably damaging 0.99
R5907:Hectd1 UTSW 12 51,845,537 (GRCm39) missense probably damaging 0.98
R5911:Hectd1 UTSW 12 51,849,035 (GRCm39) missense probably damaging 0.99
R5919:Hectd1 UTSW 12 51,815,855 (GRCm39) missense probably damaging 0.98
R6051:Hectd1 UTSW 12 51,800,887 (GRCm39) missense probably benign
R6141:Hectd1 UTSW 12 51,792,875 (GRCm39) critical splice donor site probably null
R6172:Hectd1 UTSW 12 51,816,065 (GRCm39) missense probably damaging 1.00
R6194:Hectd1 UTSW 12 51,795,228 (GRCm39) missense probably damaging 0.99
R6356:Hectd1 UTSW 12 51,791,402 (GRCm39) missense probably damaging 1.00
R6795:Hectd1 UTSW 12 51,841,270 (GRCm39) missense possibly damaging 0.94
R6909:Hectd1 UTSW 12 51,810,945 (GRCm39) splice site probably null
R6971:Hectd1 UTSW 12 51,795,526 (GRCm39) nonsense probably null
R7079:Hectd1 UTSW 12 51,834,638 (GRCm39) missense possibly damaging 0.96
R7104:Hectd1 UTSW 12 51,874,134 (GRCm39) critical splice donor site probably null
R7171:Hectd1 UTSW 12 51,806,080 (GRCm39) missense probably damaging 0.99
R7296:Hectd1 UTSW 12 51,832,635 (GRCm39) missense possibly damaging 0.73
R7346:Hectd1 UTSW 12 51,797,104 (GRCm39) missense probably benign
R7355:Hectd1 UTSW 12 51,838,081 (GRCm39) missense possibly damaging 0.72
R7468:Hectd1 UTSW 12 51,791,588 (GRCm39) splice site probably null
R7531:Hectd1 UTSW 12 51,853,150 (GRCm39) missense probably benign 0.33
R7532:Hectd1 UTSW 12 51,837,233 (GRCm39) missense probably damaging 0.98
R7755:Hectd1 UTSW 12 51,849,003 (GRCm39) missense possibly damaging 0.86
R7807:Hectd1 UTSW 12 51,792,171 (GRCm39) missense probably damaging 1.00
R7842:Hectd1 UTSW 12 51,819,343 (GRCm39) missense probably damaging 0.99
R7922:Hectd1 UTSW 12 51,836,978 (GRCm39) nonsense probably null
R8059:Hectd1 UTSW 12 51,837,161 (GRCm39) missense possibly damaging 0.53
R8085:Hectd1 UTSW 12 51,795,679 (GRCm39) missense probably damaging 0.97
R8145:Hectd1 UTSW 12 51,831,016 (GRCm39) missense possibly damaging 0.72
R8157:Hectd1 UTSW 12 51,838,073 (GRCm39) missense possibly damaging 0.53
R8405:Hectd1 UTSW 12 51,874,178 (GRCm39) missense probably benign 0.01
R8505:Hectd1 UTSW 12 51,797,145 (GRCm39) missense probably damaging 1.00
R8511:Hectd1 UTSW 12 51,834,654 (GRCm39) missense probably benign 0.01
R8697:Hectd1 UTSW 12 51,819,320 (GRCm39) critical splice donor site probably benign
R8725:Hectd1 UTSW 12 51,849,000 (GRCm39) missense possibly damaging 0.92
R8727:Hectd1 UTSW 12 51,849,000 (GRCm39) missense possibly damaging 0.92
R8911:Hectd1 UTSW 12 51,795,616 (GRCm39) missense probably damaging 0.99
R8983:Hectd1 UTSW 12 51,791,410 (GRCm39) missense probably damaging 0.97
R9037:Hectd1 UTSW 12 51,832,665 (GRCm39) missense possibly damaging 0.85
R9219:Hectd1 UTSW 12 51,800,612 (GRCm39) missense probably damaging 0.99
R9413:Hectd1 UTSW 12 51,792,880 (GRCm39) nonsense probably null
R9456:Hectd1 UTSW 12 51,832,584 (GRCm39) missense probably benign
R9513:Hectd1 UTSW 12 51,816,079 (GRCm39) missense possibly damaging 0.92
R9640:Hectd1 UTSW 12 51,795,197 (GRCm39) nonsense probably null
R9641:Hectd1 UTSW 12 51,816,047 (GRCm39) missense probably benign 0.00
R9713:Hectd1 UTSW 12 51,823,328 (GRCm39) missense probably benign 0.02
Predicted Primers
Posted On 2014-01-15