Incidental Mutation 'IGL02971:Huwe1'
ID365836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Huwe1
Ensembl Gene ENSMUSG00000025261
Gene NameHECT, UBA and WWE domain containing 1
SynonymsLOC382250, C430014N20Rik, Ib772, Ureb1, Mule, Arf-bp1, 5430439H10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02971
Quality Score
Status
ChromosomeX
Chromosomal Location151800807-151935417 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 151927626 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026292] [ENSMUST00000112622]
Predicted Effect probably benign
Transcript: ENSMUST00000026292
SMART Domains Protein: ENSMUSP00000026292
Gene: ENSMUSG00000025261

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 probably benign
Transcript: ENSMUST00000112622
SMART Domains Protein: ENSMUSP00000108241
Gene: ENSMUSG00000025261

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: ENSMUST00000130234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139245
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 104,123,219 T130I probably benign Het
Ahi1 T C 10: 21,000,551 L787P possibly damaging Het
Atf3 A G 1: 191,177,443 S10P probably benign Het
Cdr2l A G 11: 115,390,900 N77S probably damaging Het
Cnp A G 11: 100,576,699 D156G probably benign Het
Cntn3 A T 6: 102,168,933 D982E probably damaging Het
Col22a1 A G 15: 72,006,738 L190S probably damaging Het
Csmd3 C T 15: 47,913,929 probably benign Het
Dnah5 A G 15: 28,384,461 D3117G probably damaging Het
Dock5 T C 14: 67,757,109 E1834G probably null Het
Eea1 A G 10: 96,041,527 T1368A probably benign Het
Fam83f T C 15: 80,672,149 V78A probably benign Het
Fcgbp G A 7: 28,101,473 V1315I probably damaging Het
Fsd2 A T 7: 81,548,923 Y364* probably null Het
Gm21976 G A 13: 98,302,549 G16R probably null Het
Guca2b A G 4: 119,657,688 S59P probably damaging Het
Hars2 A G 18: 36,786,178 E123G probably damaging Het
Hdac2 A T 10: 37,000,374 K462* probably null Het
Iqgap3 T A 3: 88,090,304 N262K probably benign Het
Kat6b A G 14: 21,669,758 S1502G probably damaging Het
Mapkapk3 A T 9: 107,257,080 D328E probably benign Het
Mgea5 A G 19: 45,762,243 F671S probably damaging Het
Naca C T 10: 128,041,568 probably benign Het
Npffr1 T C 10: 61,614,139 V64A probably damaging Het
Olfr331 A G 11: 58,502,385 L57P probably damaging Het
Olfr918 T A 9: 38,673,268 M72L probably damaging Het
Pcca A G 14: 122,889,533 D718G probably damaging Het
Pde6a A C 18: 61,264,255 D670A probably damaging Het
Pramel7 T A 2: 87,490,073 E292V probably benign Het
Prmt9 A C 8: 77,565,069 M357L probably benign Het
Ptgfr A T 3: 151,835,326 S182T probably benign Het
Rtraf A T 14: 19,816,192 M152K possibly damaging Het
Satb1 T C 17: 51,742,689 D579G possibly damaging Het
Serpinb6a A G 13: 33,931,470 probably null Het
Slc5a9 T C 4: 111,890,300 I297V possibly damaging Het
Slf1 T A 13: 77,047,104 probably benign Het
St8sia2 C T 7: 73,966,811 V139M probably damaging Het
Tas2r114 T C 6: 131,689,280 M262V probably benign Het
Tmem147 A G 7: 30,729,422 probably benign Het
Tmem220 A G 11: 67,034,107 probably null Het
Uspl1 A G 5: 149,188,346 N35S possibly damaging Het
Vmn1r170 A T 7: 23,606,334 I54F possibly damaging Het
Vmn2r121 T G X: 124,127,894 I810L probably damaging Het
Wbp2nl A T 15: 82,305,744 T46S possibly damaging Het
Zfp955b T A 17: 33,300,966 M57K 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
IGL02120:Huwe1 APN X 151907390 missense possibly damaging 0.53
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
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
Z1176:Huwe1 UTSW X 151856575 missense probably damaging 1.00
Z1176:Huwe1 UTSW X 151928381 missense unknown
Posted On2015-12-18