Incidental Mutation 'R0402:Hectd2'
ID 192629
Institutional Source Beutler Lab
Gene Symbol Hectd2
Ensembl Gene ENSMUSG00000041180
Gene Name HECT domain E3 ubiquitin protein ligase 2
Synonyms A630025O09Rik
MMRRC Submission 038607-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0402 (G1)
Quality Score 39
Status Validated
Chromosome 19
Chromosomal Location 36532039-36598535 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 36578929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047247] [ENSMUST00000047247] [ENSMUST00000139215] [ENSMUST00000169036] [ENSMUST00000177381]
AlphaFold Q8CDU6
Predicted Effect probably null
Transcript: ENSMUST00000047247
SMART Domains Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180

DomainStartEndE-ValueType
low complexity region 10 36 N/A INTRINSIC
low complexity region 55 65 N/A INTRINSIC
low complexity region 109 128 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 314 327 N/A INTRINSIC
HECTc 433 774 1.33e-115 SMART
Predicted Effect probably null
Transcript: ENSMUST00000047247
SMART Domains Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180

DomainStartEndE-ValueType
low complexity region 10 36 N/A INTRINSIC
low complexity region 55 65 N/A INTRINSIC
low complexity region 109 128 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 314 327 N/A INTRINSIC
HECTc 433 774 1.33e-115 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139215
SMART Domains Protein: ENSMUSP00000117273
Gene: ENSMUSG00000041180

DomainStartEndE-ValueType
low complexity region 10 36 N/A INTRINSIC
low complexity region 55 65 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142404
Predicted Effect probably benign
Transcript: ENSMUST00000155594
SMART Domains Protein: ENSMUSP00000120791
Gene: ENSMUSG00000041180

DomainStartEndE-ValueType
low complexity region 28 38 N/A INTRINSIC
low complexity region 82 101 N/A INTRINSIC
low complexity region 243 254 N/A INTRINSIC
low complexity region 287 300 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000169036
SMART Domains Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180

DomainStartEndE-ValueType
low complexity region 10 36 N/A INTRINSIC
low complexity region 55 65 N/A INTRINSIC
low complexity region 109 128 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 314 327 N/A INTRINSIC
HECTc 434 775 1.33e-115 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177381
SMART Domains Protein: ENSMUSP00000134964
Gene: ENSMUSG00000041180

DomainStartEndE-ValueType
low complexity region 87 98 N/A INTRINSIC
low complexity region 131 144 N/A INTRINSIC
Meta Mutation Damage Score 0.9487 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.0%
  • 10x: 94.5%
  • 20x: 88.7%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,445,115 (GRCm39) K165N probably damaging Het
Adam6b T A 12: 113,453,615 (GRCm39) M144K probably damaging Het
Arhgap44 T C 11: 64,922,903 (GRCm39) probably benign Het
Arl5c T A 11: 97,885,939 (GRCm39) I21F probably damaging Het
Bglap2 C T 3: 88,285,552 (GRCm39) G40D probably damaging Het
Bptf T C 11: 106,964,940 (GRCm39) E1303G probably damaging Het
Calhm1 T C 19: 47,129,896 (GRCm39) T209A probably damaging Het
Ccr8 A G 9: 119,923,976 (GRCm39) probably null Het
Chkb C T 15: 89,313,610 (GRCm39) R65Q probably benign Het
Col4a1 T C 8: 11,249,838 (GRCm39) probably benign Het
Cryzl2 A G 1: 157,292,014 (GRCm39) T98A probably benign Het
D430041D05Rik T C 2: 103,998,509 (GRCm39) T1080A probably damaging Het
Dhx8 C A 11: 101,643,223 (GRCm39) T765N probably damaging Het
Dicer1 T C 12: 104,697,323 (GRCm39) D78G probably benign Het
Drd2 A G 9: 49,316,271 (GRCm39) I344V probably benign Het
Edil3 A T 13: 89,347,570 (GRCm39) probably benign Het
Fbxw19 C T 9: 109,313,493 (GRCm39) G235D probably benign Het
Fzd1 T C 5: 4,805,702 (GRCm39) K627E possibly damaging Het
Garin1b A G 6: 29,323,901 (GRCm39) T209A probably benign Het
Garin4 T C 1: 190,896,637 (GRCm39) D2G probably benign Het
Gm10638 A G 8: 87,472,828 (GRCm39) probably benign Het
H6pd G T 4: 150,080,773 (GRCm39) A24E probably damaging Het
Hps5 A G 7: 46,440,333 (GRCm39) probably benign Het
Irx3 T C 8: 92,527,296 (GRCm39) N136S possibly damaging Het
Kcmf1 T C 6: 72,826,568 (GRCm39) M1V probably null Het
Klrb1 A T 6: 128,687,583 (GRCm39) F104I probably benign Het
Lrfn5 T C 12: 61,886,803 (GRCm39) M197T probably benign Het
Mpdz A C 4: 81,279,677 (GRCm39) M51R possibly damaging Het
Mtbp G T 15: 55,432,466 (GRCm39) E258* probably null Het
Mylk3 T A 8: 86,079,539 (GRCm39) H373L probably damaging Het
Myrfl A G 10: 116,664,882 (GRCm39) S383P probably damaging Het
Nt5c T C 11: 115,381,468 (GRCm39) *195W probably null Het
Ocstamp A G 2: 165,238,184 (GRCm39) V360A possibly damaging Het
Or10ak16 A T 4: 118,750,426 (GRCm39) I49F possibly damaging Het
Or10al6 T A 17: 38,083,284 (GRCm39) C247S probably damaging Het
Or4k35 A G 2: 111,100,208 (GRCm39) F168S probably damaging Het
Or4p19 A T 2: 88,242,378 (GRCm39) V208D probably damaging Het
Or5an9 A G 19: 12,186,953 (GRCm39) T8A probably damaging Het
Otop2 T C 11: 115,217,234 (GRCm39) probably benign Het
Pom121l2 A T 13: 22,172,649 (GRCm39) probably benign Het
Pon2 T A 6: 5,272,410 (GRCm39) K137* probably null Het
Ppip5k2 T A 1: 97,647,579 (GRCm39) Q1049L probably benign Het
Ralgapa2 C T 2: 146,276,729 (GRCm39) V504M probably damaging Het
Rph3a G A 5: 121,080,317 (GRCm39) H654Y probably damaging Het
Sh2d1b1 T C 1: 170,107,342 (GRCm39) probably benign Het
Slc15a2 G A 16: 36,595,960 (GRCm39) T154I probably benign Het
Slc45a3 T C 1: 131,905,265 (GRCm39) V96A possibly damaging Het
Slc7a4 A G 16: 17,393,497 (GRCm39) S101P probably damaging Het
Smco2 T C 6: 146,772,633 (GRCm39) probably benign Het
Spata2 A T 2: 167,325,580 (GRCm39) V413E probably benign Het
Specc1l A G 10: 75,082,260 (GRCm39) E552G probably damaging Het
Sstr5 C T 17: 25,711,008 (GRCm39) V74M probably benign Het
Timm50 G A 7: 28,006,280 (GRCm39) R274W probably damaging Het
Tll2 A G 19: 41,087,132 (GRCm39) V573A possibly damaging Het
Tm7sf3 C A 6: 146,507,685 (GRCm39) R459M possibly damaging Het
Txk A G 5: 72,889,105 (GRCm39) probably null Het
Uroc1 A G 6: 90,324,284 (GRCm39) D436G probably damaging Het
Vmn1r13 T A 6: 57,187,083 (GRCm39) Y81N possibly damaging Het
Vmn2r19 A G 6: 123,313,141 (GRCm39) E737G probably damaging Het
Wfs1 A G 5: 37,134,324 (GRCm39) probably benign Het
Zfp1 G A 8: 112,396,875 (GRCm39) E285K probably damaging Het
Zfp1005 T A 2: 150,111,136 (GRCm39) C609S possibly damaging Het
Zfp661 G A 2: 127,419,640 (GRCm39) Q167* probably null Het
Zswim8 T C 14: 20,760,834 (GRCm39) F36S probably damaging Het
Zw10 A G 9: 48,980,023 (GRCm39) T385A probably benign Het
Other mutations in Hectd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Hectd2 APN 19 36,562,336 (GRCm39) missense probably benign
IGL01024:Hectd2 APN 19 36,583,793 (GRCm39) missense probably damaging 1.00
IGL01111:Hectd2 APN 19 36,574,520 (GRCm39) missense probably damaging 1.00
IGL01301:Hectd2 APN 19 36,546,770 (GRCm39) splice site probably benign
IGL02019:Hectd2 APN 19 36,592,916 (GRCm39) missense possibly damaging 0.94
IGL02410:Hectd2 APN 19 36,572,613 (GRCm39) nonsense probably null
IGL02793:Hectd2 APN 19 36,564,821 (GRCm39) missense probably damaging 0.99
IGL03010:Hectd2 APN 19 36,593,002 (GRCm39) missense probably benign 0.01
IGL03115:Hectd2 APN 19 36,577,121 (GRCm39) critical splice donor site probably null
IGL03251:Hectd2 APN 19 36,562,926 (GRCm39) missense probably damaging 1.00
chopstix1 UTSW 19 36,586,816 (GRCm39) missense possibly damaging 0.75
Chopstix3 UTSW 19 36,592,908 (GRCm39) nonsense probably null
R0415:Hectd2 UTSW 19 36,562,284 (GRCm39) unclassified probably benign
R0576:Hectd2 UTSW 19 36,562,897 (GRCm39) missense probably benign
R0685:Hectd2 UTSW 19 36,546,831 (GRCm39) missense probably damaging 0.99
R1460:Hectd2 UTSW 19 36,592,908 (GRCm39) nonsense probably null
R1791:Hectd2 UTSW 19 36,586,816 (GRCm39) missense possibly damaging 0.75
R1895:Hectd2 UTSW 19 36,591,860 (GRCm39) missense probably damaging 1.00
R1928:Hectd2 UTSW 19 36,589,719 (GRCm39) missense probably damaging 1.00
R2116:Hectd2 UTSW 19 36,591,824 (GRCm39) missense probably damaging 0.99
R2520:Hectd2 UTSW 19 36,589,633 (GRCm39) critical splice donor site probably null
R4693:Hectd2 UTSW 19 36,591,738 (GRCm39) splice site probably benign
R4858:Hectd2 UTSW 19 36,582,682 (GRCm39) missense probably damaging 0.98
R4943:Hectd2 UTSW 19 36,581,647 (GRCm39) splice site probably null
R5031:Hectd2 UTSW 19 36,577,004 (GRCm39) missense probably damaging 1.00
R5408:Hectd2 UTSW 19 36,532,296 (GRCm39) missense possibly damaging 0.46
R5621:Hectd2 UTSW 19 36,596,151 (GRCm39) missense probably damaging 1.00
R5652:Hectd2 UTSW 19 36,581,720 (GRCm39) missense probably damaging 1.00
R5704:Hectd2 UTSW 19 36,576,291 (GRCm39) missense possibly damaging 0.93
R5950:Hectd2 UTSW 19 36,574,639 (GRCm39) intron probably benign
R6414:Hectd2 UTSW 19 36,596,186 (GRCm39) missense probably benign 0.21
R6438:Hectd2 UTSW 19 36,596,242 (GRCm39) makesense probably null
R6544:Hectd2 UTSW 19 36,589,728 (GRCm39) missense probably damaging 1.00
R6545:Hectd2 UTSW 19 36,564,778 (GRCm39) missense probably benign 0.35
R6629:Hectd2 UTSW 19 36,592,938 (GRCm39) missense probably damaging 1.00
R6672:Hectd2 UTSW 19 36,564,780 (GRCm39) missense probably damaging 1.00
R6741:Hectd2 UTSW 19 36,589,759 (GRCm39) missense probably damaging 1.00
R7117:Hectd2 UTSW 19 36,577,055 (GRCm39) missense probably benign 0.29
R7238:Hectd2 UTSW 19 36,574,478 (GRCm39) missense probably damaging 0.98
R7555:Hectd2 UTSW 19 36,589,803 (GRCm39) missense probably damaging 1.00
R8184:Hectd2 UTSW 19 36,581,754 (GRCm39) missense possibly damaging 0.83
R9069:Hectd2 UTSW 19 36,562,862 (GRCm39) missense probably benign 0.00
R9149:Hectd2 UTSW 19 36,576,402 (GRCm39) missense probably damaging 0.99
R9418:Hectd2 UTSW 19 36,589,574 (GRCm39) missense probably benign 0.01
R9514:Hectd2 UTSW 19 36,582,689 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TGACCTATTTCTGGGCCATCAACAC -3'
(R):5'- TGGTTACACAATGAAGTCCCAACAAGC -3'

Sequencing Primer
(F):5'- ggtttgtagaaatgaacttatgcac -3'
(R):5'- TAATATACTGGGAGGCTAACTAGATG -3'
Posted On 2014-05-16