Incidental Mutation 'R7355:Hectd1'
ID 570896
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 045441-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7355 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 51790505-51876319 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 51838081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Glycine at position 694 (W694G)
Ref Sequence ENSEMBL: ENSMUSP00000136449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042052] [ENSMUST00000179265]
AlphaFold Q69ZR2
Predicted Effect probably damaging
Transcript: ENSMUST00000042052
AA Change: W693G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046766
Gene: ENSMUSG00000035247
AA Change: W693G

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 possibly damaging
Transcript: ENSMUST00000179265
AA Change: W694G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136449
Gene: ENSMUSG00000035247
AA Change: W694G

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
Meta Mutation Damage Score 0.8132 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (72/72)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,486,621 (GRCm39) R1469W probably benign Het
Acad10 G T 5: 121,768,780 (GRCm39) Y728* probably null Het
Adamts17 T C 7: 66,725,052 (GRCm39) V160A Het
Astn1 A T 1: 158,491,846 (GRCm39) probably null Het
Atp8a2 T C 14: 60,282,453 (GRCm39) K104E possibly damaging Het
Axl T C 7: 25,473,531 (GRCm39) Y365C probably benign Het
Btbd16 A T 7: 130,423,173 (GRCm39) Y409F probably benign Het
Caln1 A T 5: 130,443,732 (GRCm39) T22S probably benign Het
Camk1 C A 6: 113,315,307 (GRCm39) G164C probably damaging Het
Cd96 T C 16: 45,861,655 (GRCm39) T512A possibly damaging Het
Ceacam5 A G 7: 17,481,312 (GRCm39) D353G probably damaging Het
Cep162 C A 9: 87,136,008 (GRCm39) E12* probably null Het
Cfh A T 1: 140,064,553 (GRCm39) V365E probably damaging Het
Chd7 A G 4: 8,752,196 (GRCm39) H231R unknown Het
Cntnap3 T C 13: 64,919,776 (GRCm39) T694A probably benign Het
Colq C A 14: 31,267,066 (GRCm39) G158V probably damaging Het
Ctif G A 18: 75,743,756 (GRCm39) H139Y probably damaging Het
D630003M21Rik A T 2: 158,042,144 (GRCm39) F934Y probably damaging Het
Dclre1a T A 19: 56,535,567 (GRCm39) T6S possibly damaging Het
Dnmbp T C 19: 43,890,180 (GRCm39) D529G probably benign Het
Fat2 T A 11: 55,147,377 (GRCm39) Q3955L probably benign Het
Gjd4 A G 18: 9,280,860 (GRCm39) S73P probably damaging Het
Gm19410 C A 8: 36,274,226 (GRCm39) Q1460K probably benign Het
Golga5 A T 12: 102,438,494 (GRCm39) I70F possibly damaging Het
Gon4l T A 3: 88,770,827 (GRCm39) I502N probably damaging Het
Gtf2ird2 C G 5: 134,245,491 (GRCm39) A583G probably benign Het
Ifit1bl2 C T 19: 34,597,061 (GRCm39) G185D probably damaging Het
Igfbp6 G A 15: 102,056,375 (GRCm39) A145T probably benign Het
Junb C T 8: 85,705,013 (GRCm39) A16T probably benign Het
Kcnh4 C T 11: 100,643,269 (GRCm39) V333I possibly damaging Het
Ly6c1 T C 15: 74,919,256 (GRCm39) T45A possibly damaging Het
Mon2 T A 10: 122,845,421 (GRCm39) Q1428L probably benign Het
Nfatc2ip C T 7: 125,986,783 (GRCm39) probably null Het
Olfml3 C A 3: 103,643,395 (GRCm39) G329W probably damaging Het
Or10ag56 T C 2: 87,139,754 (GRCm39) V207A probably benign Het
Or10al2 A G 17: 37,983,301 (GRCm39) Y129C probably benign Het
Or6d15 T A 6: 116,559,916 (GRCm39) probably benign Het
Or9g3 C T 2: 85,584,023 (GRCm39) P106L probably benign Het
Pcsk7 A G 9: 45,820,672 (GRCm39) M35V probably benign Het
Phf14 A G 6: 12,081,006 (GRCm39) N921S probably benign Het
Pla2g4e G A 2: 120,011,982 (GRCm39) S396F possibly damaging Het
Ppp4r4 A T 12: 103,570,841 (GRCm39) K766* probably null Het
Pprc1 T C 19: 46,053,785 (GRCm39) V1105A unknown Het
Prdm9 T G 17: 15,765,497 (GRCm39) N428H probably benign Het
Prkcg C T 7: 3,372,025 (GRCm39) T497I possibly damaging Het
Prkcz A G 4: 155,441,953 (GRCm39) W60R probably damaging Het
Ptprn2 T C 12: 116,822,571 (GRCm39) F217L probably benign Het
Pum2 T A 12: 8,763,906 (GRCm39) Y283* probably null Het
Rest A G 5: 77,415,875 (GRCm39) M30V probably benign Het
Rfxank C T 8: 70,587,957 (GRCm39) R150H probably damaging Het
Ros1 T A 10: 52,042,175 (GRCm39) Q250L probably damaging Het
Sgk2 A G 2: 162,854,987 (GRCm39) D366G probably benign Het
Shoc1 T C 4: 59,076,155 (GRCm39) D596G probably benign Het
Siglec1 A T 2: 130,922,371 (GRCm39) L568Q probably benign Het
Slain1 AT ATT 14: 103,940,012 (GRCm39) probably null Het
Slc10a5 A T 3: 10,399,375 (GRCm39) Y428* probably null Het
Slc25a54 T C 3: 109,010,085 (GRCm39) W195R probably damaging Het
Slf1 A G 13: 77,239,422 (GRCm39) I414T probably damaging Het
Snx4 C T 16: 33,087,236 (GRCm39) P127L probably damaging Het
Spdl1 A T 11: 34,714,191 (GRCm39) L166H not run Het
Tapt1 C T 5: 44,334,459 (GRCm39) V511I probably benign Het
Tbata A G 10: 61,010,099 (GRCm39) probably benign Het
Tbx4 T A 11: 85,802,835 (GRCm39) V264E probably damaging Het
Tecta A T 9: 42,278,438 (GRCm39) Y1023* probably null Het
Thop1 A G 10: 80,911,465 (GRCm39) D117G probably damaging Het
Trip12 A G 1: 84,792,604 (GRCm39) L13P probably damaging Het
Tut7 T C 13: 59,969,616 (GRCm39) N93S probably benign Het
Unc13b T A 4: 43,237,754 (GRCm39) V637E probably damaging Het
Vinac1 G T 2: 128,879,149 (GRCm39) Q926K unknown Het
Yipf3 T A 17: 46,561,566 (GRCm39) M168K probably damaging Het
Zfp119a A T 17: 56,173,287 (GRCm39) C185* probably null Het
Zfyve21 A T 12: 111,791,485 (GRCm39) I157F possibly damaging Het
Zfyve26 A T 12: 79,286,828 (GRCm39) D2253E probably damaging 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
R1165:Hectd1 UTSW 12 51,810,947 (GRCm39) splice site probably benign
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
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 PCR Primer
(F):5'- GCAGTGTTCCTTGGCATAAACAAG -3'
(R):5'- GCATTGAACTGCAAGCAACTAATATG -3'

Sequencing Primer
(F):5'- GCCATGCTATAGTACAAGTACCAGTG -3'
(R):5'- TGTCTTAATTATAAGCCTGGTTCATG -3'
Posted On 2019-09-13