Incidental Mutation 'IGL02120:Huwe1'
ID 280562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Huwe1
Ensembl Gene ENSMUSG00000025261
Gene Name HECT, UBA and WWE domain containing 1
Synonyms LOC382250, C430014N20Rik, Ib772, Ureb1, Mule, Arf-bp1, 5430439H10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02120
Quality Score
Status
Chromosome X
Chromosomal Location 151800807-151935417 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 151907390 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 2485 (F2485I)
Ref Sequence ENSEMBL: ENSMUSP00000108241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026292] [ENSMUST00000112622]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000026292
AA Change: F2486I

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026292
Gene: ENSMUSG00000025261
AA Change: F2486I

DomainStartEndE-ValueType
Pfam:DUF908 90 369 4.2e-38 PFAM
Pfam:DUF913 430 814 6.1e-121 PFAM
low complexity region 841 858 N/A INTRINSIC
low complexity region 887 901 N/A INTRINSIC
low complexity region 1052 1066 N/A INTRINSIC
low complexity region 1083 1104 N/A INTRINSIC
low complexity region 1292 1314 N/A INTRINSIC
UBA 1318 1354 1.3e-4 SMART
low complexity region 1397 1424 N/A INTRINSIC
low complexity region 1526 1542 N/A INTRINSIC
Pfam:WWE 1614 1679 3.5e-16 PFAM
low complexity region 1699 1710 N/A INTRINSIC
low complexity region 1841 1864 N/A INTRINSIC
low complexity region 2021 2036 N/A INTRINSIC
low complexity region 2053 2064 N/A INTRINSIC
low complexity region 2131 2143 N/A INTRINSIC
low complexity region 2262 2272 N/A INTRINSIC
low complexity region 2276 2293 N/A INTRINSIC
low complexity region 2348 2358 N/A INTRINSIC
low complexity region 2409 2471 N/A INTRINSIC
low complexity region 2527 2543 N/A INTRINSIC
low complexity region 2591 2601 N/A INTRINSIC
low complexity region 2679 2702 N/A INTRINSIC
low complexity region 2739 2759 N/A INTRINSIC
low complexity region 2766 2781 N/A INTRINSIC
low complexity region 2914 2933 N/A INTRINSIC
low complexity region 2945 2960 N/A INTRINSIC
Pfam:DUF4414 2969 3080 1.3e-32 PFAM
low complexity region 3091 3108 N/A INTRINSIC
low complexity region 3173 3182 N/A INTRINSIC
low complexity region 3224 3239 N/A INTRINSIC
low complexity region 3254 3264 N/A INTRINSIC
low complexity region 3370 3384 N/A INTRINSIC
low complexity region 3446 3461 N/A INTRINSIC
low complexity region 3476 3553 N/A INTRINSIC
low complexity region 3750 3762 N/A INTRINSIC
coiled coil region 3763 3787 N/A INTRINSIC
low complexity region 3838 3860 N/A INTRINSIC
low complexity region 3919 3935 N/A INTRINSIC
HECTc 4040 4378 2.28e-196 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083668
Predicted Effect possibly damaging
Transcript: ENSMUST00000112622
AA Change: F2485I

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108241
Gene: ENSMUSG00000025261
AA Change: F2485I

DomainStartEndE-ValueType
Pfam:DUF908 89 370 1.8e-74 PFAM
Pfam:DUF913 429 815 1.2e-126 PFAM
low complexity region 841 858 N/A INTRINSIC
low complexity region 887 901 N/A INTRINSIC
low complexity region 1052 1066 N/A INTRINSIC
low complexity region 1083 1104 N/A INTRINSIC
low complexity region 1292 1314 N/A INTRINSIC
UBA 1318 1354 1.3e-4 SMART
low complexity region 1397 1424 N/A INTRINSIC
low complexity region 1526 1542 N/A INTRINSIC
Pfam:WWE 1611 1679 3.5e-14 PFAM
low complexity region 1699 1710 N/A INTRINSIC
low complexity region 1841 1864 N/A INTRINSIC
low complexity region 2052 2063 N/A INTRINSIC
low complexity region 2130 2142 N/A INTRINSIC
low complexity region 2261 2271 N/A INTRINSIC
low complexity region 2275 2292 N/A INTRINSIC
low complexity region 2347 2357 N/A INTRINSIC
low complexity region 2408 2470 N/A INTRINSIC
low complexity region 2526 2542 N/A INTRINSIC
low complexity region 2590 2600 N/A INTRINSIC
low complexity region 2678 2701 N/A INTRINSIC
low complexity region 2738 2758 N/A INTRINSIC
low complexity region 2765 2780 N/A INTRINSIC
low complexity region 2913 2932 N/A INTRINSIC
low complexity region 2944 2959 N/A INTRINSIC
Pfam:DUF4414 2968 3079 1.1e-34 PFAM
low complexity region 3090 3107 N/A INTRINSIC
low complexity region 3172 3181 N/A INTRINSIC
low complexity region 3223 3238 N/A INTRINSIC
low complexity region 3253 3263 N/A INTRINSIC
low complexity region 3369 3383 N/A INTRINSIC
low complexity region 3445 3460 N/A INTRINSIC
low complexity region 3475 3552 N/A INTRINSIC
low complexity region 3749 3761 N/A INTRINSIC
coiled coil region 3762 3786 N/A INTRINSIC
low complexity region 3837 3859 N/A INTRINSIC
low complexity region 3918 3934 N/A INTRINSIC
HECTc 4039 4377 2.28e-196 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150426
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic mental retardation. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a conditional allele activated in neurons results in neonatal lethality, poorly developed dentate gyrus, small cerebellum, increased cortex density, and increased neuronal precursor cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik C T 4: 144,418,411 R195H probably benign Het
Abcb11 T C 2: 69,257,310 Y1037C probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd33b T C 15: 31,367,056 T113A possibly damaging Het
Aox3 T A 1: 58,127,650 N177K probably benign Het
Arhgap29 T A 3: 122,004,257 V532E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Caskin1 G T 17: 24,500,942 G401V probably damaging Het
Cemip A T 7: 83,951,563 M950K probably damaging Het
Chrd T C 16: 20,734,541 V211A probably damaging Het
Ckap2l T C 2: 129,285,622 N212S possibly damaging Het
Clip1 T C 5: 123,647,883 D246G probably damaging Het
Dlst T C 12: 85,118,568 S82P probably benign Het
Dmxl1 T A 18: 49,894,178 L2118M possibly damaging Het
Dnah7a T C 1: 53,495,717 K2795E possibly damaging Het
Enpp5 T A 17: 44,080,845 M55K probably benign Het
Epdr1 A T 13: 19,594,471 S50T probably damaging Het
Gm6169 G T 13: 97,098,777 probably benign Het
Gm7808 T A 9: 19,928,017 probably benign Het
Kcnb2 C T 1: 15,709,861 T319M probably damaging Het
Lama1 G A 17: 67,716,789 V60M probably damaging Het
Lingo3 A T 10: 80,835,859 L79Q probably damaging Het
Magi2 T A 5: 20,228,453 probably null Het
Mob2 C A 7: 142,010,298 V33L possibly damaging Het
Mus81 G A 19: 5,485,633 probably benign Het
Nup210l G A 3: 90,136,862 G490D probably damaging Het
Olfr702 A C 7: 106,823,698 V276G possibly damaging Het
Pbp2 A G 6: 135,309,818 V177A probably damaging Het
Pomt2 T C 12: 87,111,552 D656G probably benign Het
Ppp2r1b A G 9: 50,861,769 probably benign Het
Ptprq T C 10: 107,667,472 E775G probably damaging Het
Rad54l T C 4: 116,098,984 I549V probably benign Het
Ranbp10 T C 8: 105,805,582 Y145C probably damaging Het
Runx1t1 A T 4: 13,846,884 T223S probably benign Het
Stxbp6 G T 12: 44,902,048 probably benign Het
Syne2 A G 12: 75,946,706 D2085G probably damaging Het
Szt2 C T 4: 118,388,564 R1064Q probably benign Het
Taar3 A G 10: 23,950,167 T204A probably benign Het
Tdpoz1 A G 3: 93,670,443 S345P probably damaging Het
Tgm4 T A 9: 123,046,529 I149N probably damaging Het
Tubal3 T A 13: 3,930,675 I129N probably damaging Het
Vegfc T C 8: 54,181,401 F372L possibly damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vwf C A 6: 125,616,034 L786M probably benign Het
Other mutations in Huwe1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Huwe1 APN X 151885627 missense probably damaging 1.00
IGL00707:Huwe1 APN X 151860734 missense probably damaging 1.00
IGL00932:Huwe1 APN X 151860161 splice site probably benign
IGL01413:Huwe1 APN X 151882680 missense possibly damaging 0.48
IGL01685:Huwe1 APN X 151898670 splice site probably benign
IGL02176:Huwe1 APN X 151903968 missense possibly damaging 0.47
IGL02868:Huwe1 APN X 151908833 missense possibly damaging 0.91
IGL02902:Huwe1 APN X 151886766 missense probably damaging 0.98
IGL02971:Huwe1 APN X 151927626 splice site probably benign
R0650:Huwe1 UTSW X 151876313 missense probably damaging 1.00
R0651:Huwe1 UTSW X 151876313 missense probably damaging 1.00
R0657:Huwe1 UTSW X 151919928 missense probably benign 0.33
R1241:Huwe1 UTSW X 151907048 small deletion probably benign
R1247:Huwe1 UTSW X 151901570 missense probably benign 0.03
R1791:Huwe1 UTSW X 151864753 missense probably benign 0.06
R4296:Huwe1 UTSW X 151888448 missense probably benign 0.20
R4561:Huwe1 UTSW X 151863959 missense probably damaging 1.00
R4562:Huwe1 UTSW X 151863959 missense probably damaging 1.00
R4563:Huwe1 UTSW X 151863959 missense probably damaging 1.00
R5339:Huwe1 UTSW X 151907048 small deletion probably benign
R8817:Huwe1 UTSW X 151886997 missense probably benign 0.03
R8819:Huwe1 UTSW X 151886997 missense probably benign 0.03
R9026:Huwe1 UTSW X 151933088 missense unknown
R9027:Huwe1 UTSW X 151933088 missense unknown
Z1176:Huwe1 UTSW X 151856575 missense probably damaging 1.00
Z1176:Huwe1 UTSW X 151928381 missense unknown
Posted On 2015-04-16