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 |
Arf-bp1, Mule, Ureb1, LOC382250, 5430439H10Rik, Ib772, C430014N20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
150583803-150718413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 150690386 bp (GRCm39)
|
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,087,654 (GRCm39) |
Y1037C |
probably damaging |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,367,202 (GRCm39) |
T113A |
possibly damaging |
Het |
| Aox3 |
T |
A |
1: 58,166,809 (GRCm39) |
N177K |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,797,906 (GRCm39) |
V532E |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Caskin1 |
G |
T |
17: 24,719,916 (GRCm39) |
G401V |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,600,771 (GRCm39) |
M950K |
probably damaging |
Het |
| Cfap107 |
C |
T |
4: 144,144,981 (GRCm39) |
R195H |
probably benign |
Het |
| Chrd |
T |
C |
16: 20,553,291 (GRCm39) |
V211A |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,542 (GRCm39) |
N212S |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,946 (GRCm39) |
D246G |
probably damaging |
Het |
| Dlst |
T |
C |
12: 85,165,342 (GRCm39) |
S82P |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,027,245 (GRCm39) |
L2118M |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,534,876 (GRCm39) |
K2795E |
possibly damaging |
Het |
| Enpp5 |
T |
A |
17: 44,391,736 (GRCm39) |
M55K |
probably benign |
Het |
| Epdr1 |
A |
T |
13: 19,778,641 (GRCm39) |
S50T |
probably damaging |
Het |
| Gm7808 |
T |
A |
9: 19,839,313 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
C |
T |
1: 15,780,085 (GRCm39) |
T319M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,023,784 (GRCm39) |
V60M |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,671,693 (GRCm39) |
L79Q |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,433,451 (GRCm39) |
|
probably null |
Het |
| Mob2 |
C |
A |
7: 141,564,035 (GRCm39) |
V33L |
possibly damaging |
Het |
| Mus81 |
G |
A |
19: 5,535,661 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,044,169 (GRCm39) |
G490D |
probably damaging |
Het |
| Or13n4 |
A |
C |
7: 106,422,905 (GRCm39) |
V276G |
possibly damaging |
Het |
| Pbp2 |
A |
G |
6: 135,286,816 (GRCm39) |
V177A |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,158,326 (GRCm39) |
D656G |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,069 (GRCm39) |
|
probably benign |
Het |
| Prp2rt |
G |
T |
13: 97,235,285 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,503,333 (GRCm39) |
E775G |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 115,956,181 (GRCm39) |
I549V |
probably benign |
Het |
| Ranbp10 |
T |
C |
8: 106,532,214 (GRCm39) |
Y145C |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,846,884 (GRCm39) |
T223S |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,948,831 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,993,480 (GRCm39) |
D2085G |
probably damaging |
Het |
| Szt2 |
C |
T |
4: 118,245,761 (GRCm39) |
R1064Q |
probably benign |
Het |
| Taar3 |
A |
G |
10: 23,826,065 (GRCm39) |
T204A |
probably benign |
Het |
| Tdpoz1 |
A |
G |
3: 93,577,750 (GRCm39) |
S345P |
probably damaging |
Het |
| Tgm4 |
T |
A |
9: 122,875,594 (GRCm39) |
I149N |
probably damaging |
Het |
| Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
| Vegfc |
T |
C |
8: 54,634,436 (GRCm39) |
F372L |
possibly damaging |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,592,997 (GRCm39) |
L786M |
probably benign |
Het |
|
| Other mutations in Huwe1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Huwe1
|
APN |
X |
150,668,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00707:Huwe1
|
APN |
X |
150,643,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00932:Huwe1
|
APN |
X |
150,643,157 (GRCm39) |
splice site |
probably benign |
|
|
IGL01413:Huwe1
|
APN |
X |
150,665,676 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01685:Huwe1
|
APN |
X |
150,681,666 (GRCm39) |
splice site |
probably benign |
|
|
IGL02176:Huwe1
|
APN |
X |
150,686,964 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02868:Huwe1
|
APN |
X |
150,691,829 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02902:Huwe1
|
APN |
X |
150,669,762 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02971:Huwe1
|
APN |
X |
150,710,622 (GRCm39) |
splice site |
probably benign |
|
|
R0650:Huwe1
|
UTSW |
X |
150,659,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0651:Huwe1
|
UTSW |
X |
150,659,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0657:Huwe1
|
UTSW |
X |
150,702,924 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1241:Huwe1
|
UTSW |
X |
150,690,044 (GRCm39) |
small deletion |
probably benign |
|
|
R1247:Huwe1
|
UTSW |
X |
150,684,566 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1791:Huwe1
|
UTSW |
X |
150,647,749 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4296:Huwe1
|
UTSW |
X |
150,671,444 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4561:Huwe1
|
UTSW |
X |
150,646,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4562:Huwe1
|
UTSW |
X |
150,646,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4563:Huwe1
|
UTSW |
X |
150,646,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5339:Huwe1
|
UTSW |
X |
150,690,044 (GRCm39) |
small deletion |
probably benign |
|
|
R8817:Huwe1
|
UTSW |
X |
150,669,993 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8819:Huwe1
|
UTSW |
X |
150,669,993 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9026:Huwe1
|
UTSW |
X |
150,716,084 (GRCm39) |
missense |
unknown |
|
|
R9027:Huwe1
|
UTSW |
X |
150,716,084 (GRCm39) |
missense |
unknown |
|
|
Z1176:Huwe1
|
UTSW |
X |
150,711,377 (GRCm39) |
missense |
unknown |
|
|
Z1176:Huwe1
|
UTSW |
X |
150,639,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation