Incidental Mutation 'R6545:Hectd2'
ID 521158
Institutional Source Beutler Lab
Gene Symbol Hectd2
Ensembl Gene ENSMUSG00000041180
Gene Name HECT domain E3 ubiquitin protein ligase 2
Synonyms A630025O09Rik
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 36532039-36598535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36564778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 20 (Q20K)
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: Q203K

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: Q203K

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: Q175K
SMART Domains Protein: ENSMUSP00000120791
Gene: ENSMUSG00000041180
AA Change: Q175K

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: Q203K

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: Q203K

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
AA Change: Q20K

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134964
Gene: ENSMUSG00000041180
AA Change: Q20K

DomainStartEndE-ValueType
low complexity region 87 98 N/A INTRINSIC
low complexity region 131 144 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N 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
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
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'- AGCATCCTCATGGCAGTCTAC -3'
(R):5'- CCGGGAAAGGGGATCACATTTG -3'

Sequencing Primer
(F):5'- ATGGCAGTCTACATCGCTG -3'
(R):5'- CGGGAAAGGGGATCACATTTGAAATG -3'
Posted On 2018-06-06