Incidental Mutation 'R6672:Hectd2'
ID 527184
Institutional Source Beutler Lab
Gene Symbol Hectd2
Ensembl Gene ENSMUSG00000041180
Gene Name HECT domain E3 ubiquitin protein ligase 2
Synonyms A630025O09Rik
MMRRC Submission 044792-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6672 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 36532039-36598535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 36564780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 20 (Q20H)
Ref Sequence ENSEMBL: ENSMUSP00000134964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047247] [ENSMUST00000139215] [ENSMUST00000169036] [ENSMUST00000177381]
AlphaFold Q8CDU6
Predicted Effect probably benign
Transcript: ENSMUST00000047247
AA Change: Q203H

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: Q203H

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: ENSMUST00000149629
Predicted Effect unknown
Transcript: ENSMUST00000155594
AA Change: Q175H
SMART Domains Protein: ENSMUSP00000120791
Gene: ENSMUSG00000041180
AA Change: Q175H

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 benign
Transcript: ENSMUST00000169036
AA Change: Q203H

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: Q203H

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 damaging
Transcript: ENSMUST00000177381
AA Change: Q20H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134964
Gene: ENSMUSG00000041180
AA Change: Q20H

DomainStartEndE-ValueType
low complexity region 87 98 N/A INTRINSIC
low complexity region 131 144 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 100% (31/31)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap C T 7: 26,903,489 (GRCm39) probably benign Het
Adam24 A G 8: 41,134,572 (GRCm39) E680G probably benign Het
Adam7 T A 14: 68,742,151 (GRCm39) probably null Het
Arid2 C T 15: 96,260,226 (GRCm39) T351I probably benign Het
Asz1 T A 6: 18,075,817 (GRCm39) E252V possibly damaging Het
Chrm5 C T 2: 112,310,141 (GRCm39) C325Y probably benign Het
Cimap1a A G 7: 140,428,340 (GRCm39) S25G probably benign Het
Cyp2c65 A G 19: 39,076,118 (GRCm39) R357G probably damaging Het
Dhx36 A G 3: 62,402,957 (GRCm39) V265A probably damaging Het
Dhx36 T A 3: 62,408,300 (GRCm39) E179D probably benign Het
Dip2c G A 13: 9,617,866 (GRCm39) probably null Het
Dock10 A T 1: 80,490,248 (GRCm39) M1958K probably benign Het
Dpf1 T C 7: 29,015,693 (GRCm39) C357R probably damaging Het
Dync1h1 C T 12: 110,624,568 (GRCm39) R3703C probably damaging Het
Eef1g A G 19: 8,944,411 (GRCm39) probably null Het
Gnl2 T C 4: 124,942,186 (GRCm39) V397A probably damaging Het
Gramd2b A G 18: 56,565,408 (GRCm39) E21G possibly damaging Het
Grik3 C A 4: 125,517,309 (GRCm39) Q51K probably benign Het
Krtap5-1 A G 7: 141,850,233 (GRCm39) C192R unknown Het
Lrpap1 A T 5: 35,256,577 (GRCm39) M135K probably benign Het
Lrrc9 G A 12: 72,520,710 (GRCm39) R664H possibly damaging Het
Mef2c T G 13: 83,800,975 (GRCm39) V225G probably damaging Het
Nlrp9b T C 7: 19,753,263 (GRCm39) L56P probably damaging Het
Nup133 T C 8: 124,643,020 (GRCm39) probably null Het
Or12j4 G A 7: 140,046,648 (GRCm39) C178Y probably damaging Het
Or5ak23 T A 2: 85,244,948 (GRCm39) I92L possibly damaging Het
Ppp1r3d T C 2: 178,055,552 (GRCm39) E150G possibly damaging Het
Smpd1 A G 7: 105,204,480 (GRCm39) M120V probably benign Het
Zbtb46 A G 2: 181,053,629 (GRCm39) L361P probably benign Het
Zfp605 A G 5: 110,275,863 (GRCm39) H327R probably damaging 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
R0402:Hectd2 UTSW 19 36,578,929 (GRCm39) critical splice donor site 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
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'- GTCTCAGGAGTGAATTGGATACTG -3'
(R):5'- CCTCATAGAATCAGGCAAGGG -3'

Sequencing Primer
(F):5'- AATTGGATACTGCTCTTAGTGTCGC -3'
(R):5'- CCGGGAAAGGGGATCACATTTG -3'
Posted On 2018-07-23