Incidental Mutation 'R2116:Hectd2'
ID 233215
Institutional Source Beutler Lab
Gene Symbol Hectd2
Ensembl Gene ENSMUSG00000041180
Gene Name HECT domain E3 ubiquitin protein ligase 2
Synonyms A630025O09Rik
MMRRC Submission 040120-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2116 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 36532039-36598535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36591824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 675 (T675K)
Ref Sequence ENSEMBL: ENSMUSP00000128387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047247] [ENSMUST00000139215] [ENSMUST00000169036] [ENSMUST00000177381]
AlphaFold Q8CDU6
Predicted Effect probably damaging
Transcript: ENSMUST00000047247
AA Change: T674K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042646
Gene: ENSMUSG00000041180
AA Change: T674K

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: ENSMUST00000142067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142404
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149601
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: T675K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128387
Gene: ENSMUSG00000041180
AA Change: T675K

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A G 15: 94,253,243 (GRCm39) C377R probably damaging Het
Adgrv1 T C 13: 81,677,132 (GRCm39) K1180E probably benign Het
Ankle1 A G 8: 71,860,562 (GRCm39) T340A probably benign Het
Armc2 A T 10: 41,839,663 (GRCm39) L434Q probably damaging Het
Ash1l C T 3: 88,890,571 (GRCm39) L817F probably benign Het
Atm C T 9: 53,412,269 (GRCm39) E960K probably benign Het
Bend5 G T 4: 111,272,436 (GRCm39) R22L probably benign Het
Cacng6 C T 7: 3,479,020 (GRCm39) T133I probably damaging Het
Cep120 G A 18: 53,873,208 (GRCm39) T41I probably damaging Het
Ciz1 T C 2: 32,257,477 (GRCm39) L174P probably damaging Het
Cmah G A 13: 24,612,880 (GRCm39) D26N probably benign Het
Cnot1 A C 8: 96,452,781 (GRCm39) D2098E probably damaging Het
Cnot10 A C 9: 114,455,504 (GRCm39) S207R probably damaging Het
Col14a1 A G 15: 55,271,160 (GRCm39) T638A unknown Het
Coro1a T C 7: 126,301,194 (GRCm39) E102G probably damaging Het
Ddx27 A C 2: 166,869,684 (GRCm39) D373A probably benign Het
Defb38 A T 8: 19,073,483 (GRCm39) Y63* probably null Het
Dhx37 A G 5: 125,498,166 (GRCm39) V681A probably damaging Het
Dmxl1 T A 18: 50,011,884 (GRCm39) L1347H probably damaging Het
Dnmt3l C A 10: 77,899,130 (GRCm39) L110I probably damaging Het
Gcn1 A T 5: 115,736,884 (GRCm39) M1276L probably benign Het
Gfus A G 15: 75,797,991 (GRCm39) F223S probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm12790 G A 4: 101,824,848 (GRCm39) T140I possibly damaging Het
Golga3 A T 5: 110,335,261 (GRCm39) M192L probably damaging Het
H2-T22 A T 17: 36,349,949 (GRCm39) probably null Het
Hinfp T C 9: 44,210,912 (GRCm39) N116S probably damaging Het
Hoatz A G 9: 51,012,384 (GRCm39) S79P possibly damaging Het
Hs6st3 T A 14: 120,106,699 (GRCm39) L369Q probably damaging Het
Ift74 A G 4: 94,515,496 (GRCm39) T138A probably benign Het
Ipo7 T A 7: 109,650,325 (GRCm39) Y792N probably damaging Het
Jak1 A T 4: 101,036,872 (GRCm39) I256N probably damaging Het
Kcnd2 T A 6: 21,216,431 (GRCm39) L45Q probably damaging Het
Klhl3 A T 13: 58,166,805 (GRCm39) V342E probably damaging Het
Krt28 A C 11: 99,255,943 (GRCm39) S439A probably benign Het
L3mbtl1 T A 2: 162,801,990 (GRCm39) probably null Het
Lrch1 G A 14: 75,022,971 (GRCm39) P634L probably damaging Het
Lrp1 C T 10: 127,412,362 (GRCm39) W1314* probably null Het
Lrwd1 T A 5: 136,159,332 (GRCm39) Y431F probably damaging Het
Lyst A G 13: 13,810,286 (GRCm39) E652G probably damaging Het
Mageb3 A G 2: 121,785,033 (GRCm39) V223A probably damaging Het
Map1b G T 13: 99,567,152 (GRCm39) S1856R unknown Het
Mecom T A 3: 30,019,607 (GRCm39) Q759L probably damaging Het
Mfsd6 T A 1: 52,700,134 (GRCm39) R671S probably benign Het
Mllt10 A G 2: 18,167,380 (GRCm39) N435S probably benign Het
Mta2 T C 19: 8,920,880 (GRCm39) I27T probably damaging Het
Ndufab1 A G 7: 121,700,987 (GRCm39) L20P probably benign Het
Nfatc2ip T A 7: 125,984,280 (GRCm39) Y371F probably damaging Het
Nhlrc1 A C 13: 47,167,661 (GRCm39) S199A probably benign Het
Nipa1 G T 7: 55,635,273 (GRCm39) N113K possibly damaging Het
Nlgn1 T A 3: 26,187,414 (GRCm39) N157I probably damaging Het
Nlrp1a T A 11: 71,005,326 (GRCm39) K630* probably null Het
Nmi T C 2: 51,838,719 (GRCm39) T272A probably benign Het
Nr1i3 T A 1: 171,046,163 (GRCm39) L181Q probably damaging Het
Nrxn1 A T 17: 91,011,705 (GRCm39) I308K probably damaging Het
Nup50l A T 6: 96,141,841 (GRCm39) V401E probably damaging Het
Or14a256 T C 7: 86,265,286 (GRCm39) D189G probably benign Het
Or52z15 T C 7: 103,332,519 (GRCm39) I188T probably damaging Het
Or5al7 A T 2: 85,993,073 (GRCm39) Y73* probably null Het
Or8g50 T A 9: 39,648,600 (GRCm39) M163K probably damaging Het
Osgin2 G A 4: 16,008,648 (GRCm39) T51M probably damaging Het
Pkd1l2 T A 8: 117,757,461 (GRCm39) T1526S possibly damaging Het
Pkhd1l1 G T 15: 44,432,878 (GRCm39) A3378S probably damaging Het
Plg A T 17: 12,603,364 (GRCm39) D90V probably damaging Het
Plppr3 A T 10: 79,701,572 (GRCm39) D423E probably benign Het
Prpf8 T C 11: 75,378,547 (GRCm39) V66A possibly damaging Het
Psg19 A T 7: 18,528,180 (GRCm39) Y188N probably damaging Het
Ptgs1 C A 2: 36,127,708 (GRCm39) S89* probably null Het
Ptx3 T A 3: 66,132,187 (GRCm39) I236N probably damaging Het
Pygm A G 19: 6,436,438 (GRCm39) N100S probably damaging Het
Reps1 A G 10: 18,000,668 (GRCm39) E760G probably damaging Het
Rgs7 T A 1: 174,918,639 (GRCm39) N235I probably damaging Het
Rgsl1 T A 1: 153,693,295 (GRCm39) M629L probably benign Het
Rrh T C 3: 129,604,336 (GRCm39) I288M probably damaging Het
Sctr A T 1: 119,959,312 (GRCm39) D70V probably damaging Het
Sec11c A T 18: 65,933,720 (GRCm39) T9S probably benign Het
Spty2d1 C T 7: 46,645,933 (GRCm39) G570D probably damaging Het
Stx1b T C 7: 127,410,077 (GRCm39) E153G probably damaging Het
Synm G A 7: 67,383,343 (GRCm39) R1440W probably benign Het
Tcof1 T C 18: 60,965,857 (GRCm39) E415G possibly damaging Het
Tgfb1i1 G A 7: 127,851,977 (GRCm39) R353H probably damaging Het
Thbs3 T C 3: 89,126,699 (GRCm39) F271S probably damaging Het
Tlr5 T C 1: 182,803,194 (GRCm39) W833R probably damaging Het
Tmem132b A G 5: 125,699,615 (GRCm39) E92G probably damaging Het
Tmem221 T C 8: 72,010,472 (GRCm39) Y133C probably damaging Het
Tmem229b-ps A G 10: 53,351,552 (GRCm39) noncoding transcript Het
Tnxb T C 17: 34,891,201 (GRCm39) C515R probably damaging Het
Trp53rka T A 2: 165,333,415 (GRCm39) N158I probably damaging Het
Usp20 T A 2: 30,906,317 (GRCm39) C562S probably damaging Het
Usp31 C T 7: 121,247,919 (GRCm39) V1175M probably benign Het
Veph1 G T 3: 65,964,610 (GRCm39) N806K probably benign Het
Vmn1r223 G T 13: 23,433,832 (GRCm39) C142F probably damaging Het
Vmn2r80 A T 10: 79,030,558 (GRCm39) S795C probably benign Het
Wdr41 A G 13: 95,151,537 (GRCm39) probably null Het
Zfp617 A T 8: 72,686,009 (GRCm39) H113L probably benign Het
Zfp715 T A 7: 42,947,370 (GRCm39) R863S possibly 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
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
Predicted Primers PCR Primer
(F):5'- CAGTGCTTCCTGCTGATTGG -3'
(R):5'- AGGGGACTTTCAGGATAGCA -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GGACTTTCAGGATAGCATTTGAAATG -3'
Posted On 2014-09-18