Incidental Mutation 'R8085:Hectd1'
ID 629607
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 067518-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8085 (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 T at 51795679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 2250 (F2250Y)
Ref Sequence ENSEMBL: ENSMUSP00000136449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042052] [ENSMUST00000179265] [ENSMUST00000218820]
AlphaFold Q69ZR2
Predicted Effect probably benign
Transcript: ENSMUST00000042052
AA Change: F2245Y

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046766
Gene: ENSMUSG00000035247
AA Change: F2245Y

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 damaging
Transcript: ENSMUST00000179265
AA Change: F2250Y

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136449
Gene: ENSMUSG00000035247
AA Change: F2250Y

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 probably benign
Transcript: ENSMUST00000218820
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 96.0%
Validation Efficiency 99% (81/82)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 G T 9: 30,854,611 (GRCm39) R160L probably benign Het
Atp11b T C 3: 35,895,185 (GRCm39) S908P probably benign Het
AW146154 C T 7: 41,130,621 (GRCm39) G165D possibly damaging Het
AW146154 C A 7: 41,130,622 (GRCm39) G165C probably damaging Het
Cachd1 G A 4: 100,845,361 (GRCm39) G951D probably damaging Het
Clstn3 T C 6: 124,435,683 (GRCm39) N250D probably benign Het
Coch G C 12: 51,650,031 (GRCm39) G340A possibly damaging Het
Col18a1 A G 10: 76,924,741 (GRCm39) V226A unknown Het
Crocc2 G A 1: 93,130,578 (GRCm39) R953Q possibly damaging Het
Dgkh A T 14: 78,824,558 (GRCm39) probably null Het
Disp2 C T 2: 118,617,452 (GRCm39) L149F possibly damaging Het
Dpt T C 1: 164,650,756 (GRCm39) F186S probably damaging Het
Eif3l T G 15: 78,961,066 (GRCm39) Y40D probably damaging Het
Epha3 A C 16: 63,403,873 (GRCm39) Y743D probably damaging Het
Ercc6l2 A T 13: 63,992,367 (GRCm39) Y272F probably benign Het
Exoc2 G A 13: 31,124,686 (GRCm39) L9F probably damaging Het
Fkbp9 A G 6: 56,833,289 (GRCm39) T259A probably benign Het
Gm5622 A T 14: 51,895,201 (GRCm39) K120M probably damaging Het
Herc2 A G 7: 55,879,427 (GRCm39) I4682V probably benign Het
Hnf1a T C 5: 115,108,732 (GRCm39) T58A probably benign Het
Kctd1 T A 18: 15,140,901 (GRCm39) I610F possibly damaging Het
Kif5a A T 10: 127,075,178 (GRCm39) D478E probably benign Het
Klf13 G T 7: 63,541,497 (GRCm39) A210E probably damaging Het
Klhl20 C A 1: 160,921,354 (GRCm39) G543C probably damaging Het
Krt78 T C 15: 101,855,715 (GRCm39) T699A possibly damaging Het
Lgr5 A T 10: 115,311,102 (GRCm39) D231E probably benign Het
Lonrf1 C A 8: 36,715,769 (GRCm39) G289W probably damaging Het
Lyst T C 13: 13,808,894 (GRCm39) L188P probably damaging Het
Mab21l2 T C 3: 86,455,393 (GRCm39) probably benign Het
Macf1 A G 4: 123,303,875 (GRCm39) V209A possibly damaging Het
Mctp1 A C 13: 76,972,972 (GRCm39) R658S probably benign Het
Mdfi T C 17: 48,127,042 (GRCm39) T178A probably damaging Het
Msln T A 17: 25,971,942 (GRCm39) K92* probably null Het
Msx3 T C 7: 139,627,998 (GRCm39) H113R unknown Het
Muc6 T A 7: 141,226,729 (GRCm39) T1433S unknown Het
Musk T A 4: 58,373,110 (GRCm39) S693R probably benign Het
Myh13 A G 11: 67,225,613 (GRCm39) K296R probably benign Het
Mylip A T 13: 45,563,928 (GRCm39) H427L possibly damaging Het
Nradd G T 9: 110,451,179 (GRCm39) T63K possibly damaging Het
Ntaq1 T G 15: 58,015,983 (GRCm39) probably null Het
Or5h17 A G 16: 58,820,432 (GRCm39) N128S probably benign Het
Or5p66 G T 7: 107,885,620 (GRCm39) Q238K probably benign Het
Osbp2 A G 11: 3,662,521 (GRCm39) L187P probably damaging Het
Oxct1 A G 15: 4,158,350 (GRCm39) D428G probably damaging Het
Oxsm G T 14: 16,242,439 (GRCm38) S110* probably null Het
Pard6a A G 8: 106,429,642 (GRCm39) Q230R probably damaging Het
Pkhd1 C A 1: 20,683,639 (GRCm39) W38L probably damaging Het
Plekhh2 A G 17: 84,905,384 (GRCm39) N1093D probably damaging Het
Rttn C T 18: 89,071,672 (GRCm39) Q1240* probably null Het
Serpina1d T C 12: 103,730,087 (GRCm39) E365G probably damaging Het
Sis A T 3: 72,814,462 (GRCm39) H1589Q probably damaging Het
Slc40a1 A T 1: 45,957,528 (GRCm39) I152N probably damaging Het
Slc44a5 C T 3: 153,928,414 (GRCm39) P59S probably damaging Het
Smarca4 T A 9: 21,570,108 (GRCm39) probably null Het
Smim33 A T 18: 35,861,573 (GRCm39) D19V probably benign Het
Spag9 A G 11: 93,989,870 (GRCm39) Y930C probably benign Het
Speg A G 1: 75,391,997 (GRCm39) E1593G probably damaging Het
St3gal5 G T 6: 72,074,925 (GRCm39) A62S unknown Het
Stx1a T C 5: 135,066,431 (GRCm39) probably null Het
Syne1 T A 10: 5,178,021 (GRCm39) I4818F possibly damaging Het
Tango6 A G 8: 107,447,366 (GRCm39) H588R probably benign Het
Tapt1 T C 5: 44,336,307 (GRCm39) Y454C probably damaging Het
Tep1 A G 14: 51,066,753 (GRCm39) Y2282H probably benign Het
Tle6 A T 10: 81,431,792 (GRCm39) W151R probably damaging Het
Tmem131l A T 3: 83,834,438 (GRCm39) M715K possibly damaging Het
Ubr1 T A 2: 120,764,898 (GRCm39) R519* probably null Het
Usp1 A T 4: 98,816,578 (GRCm39) N93I probably damaging Het
Vmn1r211 A T 13: 23,035,953 (GRCm39) M238K probably damaging Het
Vmn1r238 A G 18: 3,123,151 (GRCm39) Y88H probably damaging Het
Vmn2r62 A G 7: 42,437,270 (GRCm39) Y405H probably damaging Het
Vmn2r78 A G 7: 86,603,998 (GRCm39) I725M probably benign Het
Zfp12 C T 5: 143,230,681 (GRCm39) T368M 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
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
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'- AGAAGCTTCCGACTGACTTTCA -3'
(R):5'- AATTAACATGCATGCATCTTCAGA -3'

Sequencing Primer
(F):5'- CAGTACAGTGCAAGTCTCTGTCG -3'
(R):5'- CAGTTGGGAGGTTTGGTTACTATC -3'
Posted On 2020-06-30