Incidental Mutation 'IGL02410:Hectd2'
ID 292249
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 # IGL02410
Quality Score
Status
Chromosome 19
Chromosomal Location 36532039-36598535 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 36572613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 39 (R39*)
Ref Sequence ENSEMBL: ENSMUSP00000134964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047247] [ENSMUST00000139215] [ENSMUST00000169036] [ENSMUST00000177381]
AlphaFold Q8CDU6
Predicted Effect probably null
Transcript: ENSMUST00000047247
AA Change: R222*
SMART Domains Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: R222*

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 probably null
Transcript: ENSMUST00000155594
AA Change: R194*
SMART Domains Protein: ENSMUSP00000120791
Gene: ENSMUSG00000041180
AA Change: R194*

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
AA Change: R222*
SMART Domains Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: R222*

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 null
Transcript: ENSMUST00000177381
AA Change: R39*
SMART Domains Protein: ENSMUSP00000134964
Gene: ENSMUSG00000041180
AA Change: R39*

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 G A 1: 165,337,977 (GRCm39) C197Y probably damaging Het
Ano2 A G 6: 125,792,496 (GRCm39) probably null Het
Aqr A G 2: 113,967,398 (GRCm39) V539A possibly damaging Het
Bnip3 C A 7: 138,500,528 (GRCm39) G21C probably damaging Het
Cul1 T A 6: 47,461,948 (GRCm39) M37K probably damaging Het
Dazl T C 17: 50,600,426 (GRCm39) probably benign Het
Dsg2 A G 18: 20,735,189 (GRCm39) T1056A probably benign Het
Ewsr1 A G 11: 5,043,863 (GRCm39) probably benign Het
Fam167b G A 4: 129,472,011 (GRCm39) A53V probably benign Het
Fat3 T C 9: 15,909,141 (GRCm39) Y2287C probably damaging Het
H2-M10.3 A T 17: 36,677,428 (GRCm39) H283Q probably damaging Het
Hnrnph3 A G 10: 62,851,503 (GRCm39) probably benign Het
Hps4 T C 5: 112,518,093 (GRCm39) V362A probably benign Het
Igkv9-120 A C 6: 68,027,027 (GRCm39) probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lamc3 A G 2: 31,795,977 (GRCm39) T417A probably damaging Het
Loxhd1 T C 18: 77,490,648 (GRCm39) V1307A probably benign Het
Mpdz T C 4: 81,215,730 (GRCm39) E1511G probably benign Het
Nprl3 A T 11: 32,217,539 (GRCm39) M1K probably null Het
Or9i2 A G 19: 13,816,495 (GRCm39) I14T probably benign Het
Ppp1r15a A G 7: 45,173,479 (GRCm39) V443A probably damaging Het
Psmd1 T G 1: 86,005,159 (GRCm39) L198V probably damaging Het
Rapgef4 A T 2: 72,056,938 (GRCm39) I566F possibly damaging Het
Rbbp8 T A 18: 11,865,269 (GRCm39) D719E probably damaging Het
Siah2 T C 3: 58,583,468 (GRCm39) R273G probably damaging Het
Siglecg C T 7: 43,058,253 (GRCm39) P47S probably damaging Het
Sox6 A G 7: 115,085,979 (GRCm39) S621P probably damaging Het
Spata31e5 A G 1: 28,817,712 (GRCm39) S107P probably benign Het
Ttn C A 2: 76,555,278 (GRCm39) A30576S probably benign Het
Ttyh1 A G 7: 4,136,898 (GRCm39) probably benign Het
Ush2a C T 1: 188,648,194 (GRCm39) R4600C probably damaging Het
Usp36 C T 11: 118,167,011 (GRCm39) V289M 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
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
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 2015-04-16