Incidental Mutation 'IGL03010:Hectd2'
ID 407741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hectd2
Ensembl Gene ENSMUSG00000041180
Gene Name HECT domain E3 ubiquitin protein ligase 2
Synonyms A630025O09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03010
Quality Score
Status
Chromosome 19
Chromosomal Location 36532039-36598535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36593002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 722 (D722E)
Ref Sequence ENSEMBL: ENSMUSP00000128387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047247] [ENSMUST00000139215] [ENSMUST00000169036] [ENSMUST00000177381]
AlphaFold Q8CDU6
Predicted Effect probably benign
Transcript: ENSMUST00000047247
AA Change: D721E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: D721E

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 noncoding transcript
Transcript: ENSMUST00000129953
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: ENSMUST00000142067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149601
Predicted Effect probably benign
Transcript: ENSMUST00000169036
AA Change: D722E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: D722E

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: 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 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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Adamts4 T C 1: 171,078,985 (GRCm39) C202R probably damaging Het
Afap1l1 T C 18: 61,876,390 (GRCm39) D409G probably benign Het
Atp6v1b2 T C 8: 69,558,534 (GRCm39) I334T probably damaging Het
Btn2a2 A T 13: 23,670,375 (GRCm39) Y119* probably null Het
Cct2 T C 10: 116,894,019 (GRCm39) D245G probably damaging Het
Ercc2 A G 7: 19,125,491 (GRCm39) K486E possibly damaging Het
Fam186b T C 15: 99,178,508 (GRCm39) S273G possibly damaging Het
Fbxw24 T A 9: 109,452,678 (GRCm39) I106L probably benign Het
Ghrhr T C 6: 55,361,742 (GRCm39) I303T probably damaging Het
Habp2 T C 19: 56,299,655 (GRCm39) probably null Het
Haus3 T A 5: 34,323,631 (GRCm39) E326D probably benign Het
Hdac7 C T 15: 97,691,810 (GRCm39) probably null Het
Il20ra G T 10: 19,624,960 (GRCm39) G80W probably damaging Het
Jag1 T C 2: 136,935,118 (GRCm39) probably benign Het
Lrp1b A G 2: 42,213,618 (GRCm39) S65P possibly damaging Het
Lypd2 A G 15: 74,606,102 (GRCm39) I12T probably benign Het
Nat2 T A 8: 67,954,664 (GRCm39) L258Q probably damaging Het
Nwd1 T C 8: 73,414,688 (GRCm39) probably benign Het
Or2y1b T A 11: 49,208,973 (GRCm39) V200E probably damaging Het
Or5ac24 A G 16: 59,165,135 (GRCm39) probably benign Het
Or6c3 G T 10: 129,308,843 (GRCm39) C94F probably damaging Het
Pcdh15 T A 10: 74,221,777 (GRCm39) D692E probably damaging Het
Prkcz G T 4: 155,371,262 (GRCm39) H134N probably damaging Het
Prmt8 T C 6: 127,706,498 (GRCm39) T98A probably benign Het
Rps6kc1 C A 1: 190,643,803 (GRCm39) E19* probably null Het
Rrp8 A G 7: 105,383,598 (GRCm39) S223P probably benign Het
Septin10 G A 10: 59,006,777 (GRCm39) probably benign Het
Serpinb7 T C 1: 107,379,741 (GRCm39) probably benign Het
Spaca6 C A 17: 18,058,667 (GRCm39) Q72K probably benign Het
Spag1 A G 15: 36,233,419 (GRCm39) H712R probably benign Het
Spg11 C A 2: 121,918,801 (GRCm39) A943S probably damaging Het
Tmem104 T C 11: 115,134,360 (GRCm39) S298P probably benign Het
Ttn A G 2: 76,565,432 (GRCm39) I28265T probably damaging Het
Usp33 G T 3: 152,074,233 (GRCm39) V360F probably benign Het
Vmn2r113 A G 17: 23,175,038 (GRCm39) T550A possibly damaging Het
Zscan4d A T 7: 10,897,070 (GRCm39) V128D 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
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
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
Posted On 2016-08-02