Incidental Mutation 'IGL01024:Hectd2'
ID54102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hectd2
Ensembl Gene ENSMUSG00000041180
Gene NameHECT domain E3 ubiquitin protein ligase 2
SynonymsA630025O09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01024
Quality Score
Status
Chromosome19
Chromosomal Location36554639-36621135 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36606393 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 479 (F479L)
Ref Sequence ENSEMBL: ENSMUSP00000128387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047247] [ENSMUST00000139215] [ENSMUST00000169036] [ENSMUST00000177381]
Predicted Effect probably damaging
Transcript: ENSMUST00000047247
AA Change: F478L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: F478L

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: 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 damaging
Transcript: ENSMUST00000169036
AA Change: F479L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: F479L

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,717,040 V209A probably benign Het
Abca6 T A 11: 110,197,142 Y1053F probably benign Het
Acot12 C T 13: 91,781,211 Q386* probably null Het
Adamts16 A G 13: 70,795,484 V336A probably benign Het
Ankrd49 A G 9: 14,782,803 F23L probably damaging Het
Aspm A T 1: 139,478,124 H1583L possibly damaging Het
Atp6v0a1 A G 11: 101,048,439 I677V probably benign Het
BC005561 T G 5: 104,521,746 V1378G probably benign Het
Brinp1 A T 4: 68,762,494 W600R probably damaging Het
C87977 A T 4: 144,208,475 I232K possibly damaging Het
Ccdc185 T C 1: 182,747,423 E567G possibly damaging Het
Clip2 T C 5: 134,510,212 D445G probably damaging Het
Elp5 T C 11: 69,968,422 probably benign Het
Gm9376 A G 14: 118,267,158 M1V probably null Het
Gtf2a1l A G 17: 88,671,291 K40R probably damaging Het
Hdc A G 2: 126,603,846 V246A probably benign Het
Hipk1 G T 3: 103,760,636 N538K probably benign Het
Kif27 T A 13: 58,288,201 E1259D possibly damaging Het
Klhdc2 T A 12: 69,305,836 N256K probably benign Het
Krt71 C T 15: 101,736,674 A401T probably damaging Het
Mapk3 A T 7: 126,764,774 K312* probably null Het
Med12l G T 3: 59,073,341 S365I probably damaging Het
Mgam A G 6: 40,643,010 K11R probably benign Het
Nox3 A T 17: 3,683,015 I187N probably damaging Het
Nudcd1 T A 15: 44,420,826 M55L probably benign Het
Olfr1312 A T 2: 112,042,371 F220L probably benign Het
Olfr43 A T 11: 74,206,655 L187Q probably damaging Het
Olfr983 A G 9: 40,092,733 S78P probably damaging Het
Pard6g T C 18: 80,079,822 probably benign Het
Pbrm1 G A 14: 31,052,260 R461H probably damaging Het
Ppm1f C A 16: 16,923,769 T369K probably benign Het
Ppp1r16b C T 2: 158,740,816 probably benign Het
Prom2 T C 2: 127,541,139 N61S probably benign Het
Psmc2 T C 5: 21,801,198 probably benign Het
Psme2 A G 14: 55,588,436 probably benign Het
Ptprc T C 1: 138,080,912 H655R probably damaging Het
Pxdn A C 12: 29,987,099 N292T probably damaging Het
Rapgef2 T C 3: 79,070,138 I1301V probably benign Het
Rnase11 T C 14: 51,049,864 I78V probably benign Het
Rpl41 A G 10: 128,548,377 probably benign Het
Sgf29 G A 7: 126,664,931 R56Q possibly damaging Het
Sis A G 3: 72,911,876 L1449S probably damaging Het
Slc34a2 T A 5: 53,067,630 V371D possibly damaging Het
Son C A 16: 91,655,910 T515K probably damaging Het
Tbx15 A T 3: 99,316,246 D250V probably damaging Het
Tmem171 T A 13: 98,686,518 probably null Het
Ugt2b36 C T 5: 87,080,869 probably null Het
Vill G A 9: 119,070,350 probably null Het
Vmn2r22 A G 6: 123,638,053 F193L probably damaging Het
Vmn2r95 C T 17: 18,452,328 probably benign Het
Vstm2a T A 11: 16,281,874 V223D possibly damaging Het
Other mutations in Hectd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Hectd2 APN 19 36584936 missense probably benign
IGL01111:Hectd2 APN 19 36597120 missense probably damaging 1.00
IGL01301:Hectd2 APN 19 36569370 splice site probably benign
IGL02019:Hectd2 APN 19 36615516 missense possibly damaging 0.94
IGL02410:Hectd2 APN 19 36595213 nonsense probably null
IGL02793:Hectd2 APN 19 36587421 missense probably damaging 0.99
IGL03010:Hectd2 APN 19 36615602 missense probably benign 0.01
IGL03115:Hectd2 APN 19 36599721 critical splice donor site probably null
IGL03251:Hectd2 APN 19 36585526 missense probably damaging 1.00
chopstix1 UTSW 19 36609416 missense possibly damaging 0.75
Chopstix3 UTSW 19 36615508 nonsense probably null
R0402:Hectd2 UTSW 19 36601529 critical splice donor site probably null
R0415:Hectd2 UTSW 19 36584884 unclassified probably benign
R0576:Hectd2 UTSW 19 36585497 missense probably benign
R0685:Hectd2 UTSW 19 36569431 missense probably damaging 0.99
R1460:Hectd2 UTSW 19 36615508 nonsense probably null
R1791:Hectd2 UTSW 19 36609416 missense possibly damaging 0.75
R1895:Hectd2 UTSW 19 36614460 missense probably damaging 1.00
R1928:Hectd2 UTSW 19 36612319 missense probably damaging 1.00
R2116:Hectd2 UTSW 19 36614424 missense probably damaging 0.99
R2520:Hectd2 UTSW 19 36612233 critical splice donor site probably null
R4693:Hectd2 UTSW 19 36614338 splice site probably benign
R4858:Hectd2 UTSW 19 36605282 missense probably damaging 0.98
R4943:Hectd2 UTSW 19 36604247 splice site probably null
R5031:Hectd2 UTSW 19 36599604 missense probably damaging 1.00
R5408:Hectd2 UTSW 19 36554896 missense possibly damaging 0.46
R5621:Hectd2 UTSW 19 36618751 missense probably damaging 1.00
R5652:Hectd2 UTSW 19 36604320 missense probably damaging 1.00
R5704:Hectd2 UTSW 19 36598891 missense possibly damaging 0.93
R5950:Hectd2 UTSW 19 36597239 intron probably benign
R6414:Hectd2 UTSW 19 36618786 missense probably benign 0.21
R6438:Hectd2 UTSW 19 36618842 makesense probably null
R6544:Hectd2 UTSW 19 36612328 missense probably damaging 1.00
R6545:Hectd2 UTSW 19 36587378 missense probably benign 0.35
R6629:Hectd2 UTSW 19 36615538 missense probably damaging 1.00
R6672:Hectd2 UTSW 19 36587380 missense probably damaging 1.00
R6741:Hectd2 UTSW 19 36612359 missense probably damaging 1.00
R7117:Hectd2 UTSW 19 36599655 missense probably benign 0.29
R7238:Hectd2 UTSW 19 36597078 missense probably damaging 0.98
R7555:Hectd2 UTSW 19 36612403 missense probably damaging 1.00
Posted On2013-06-28