Incidental Mutation 'IGL02176:Huwe1'
| ID |
283099 |
| 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 # |
IGL02176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
150583803-150718413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150686964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2283
(S2283P)
|
| 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: S2284P
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026292
Gene: ENSMUSG00000025261
AA Change: S2284P
| 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 |
possibly damaging
Transcript: ENSMUST00000112622
AA Change: S2283P
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108241
Gene: ENSMUSG00000025261
AA Change: S2283P
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
T |
10: 20,846,815 (GRCm39) |
R415L |
probably benign |
Het |
| Ankle1 |
C |
A |
8: 71,858,903 (GRCm39) |
H45Q |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 89,878,530 (GRCm39) |
H113L |
probably damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,223,476 (GRCm39) |
H851L |
possibly damaging |
Het |
| Atp12a |
C |
T |
14: 56,624,636 (GRCm39) |
S972L |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,896,114 (GRCm39) |
D301G |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,505,545 (GRCm39) |
T223A |
probably benign |
Het |
| C3 |
C |
A |
17: 57,533,337 (GRCm39) |
|
probably benign |
Het |
| C8g |
A |
G |
2: 25,389,122 (GRCm39) |
S154P |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,019,076 (GRCm39) |
D459G |
probably damaging |
Het |
| Cdca7 |
A |
G |
2: 72,314,988 (GRCm39) |
T293A |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,226,658 (GRCm39) |
D2810V |
probably damaging |
Het |
| CN725425 |
G |
A |
15: 91,130,024 (GRCm39) |
V296I |
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,639,658 (GRCm39) |
M1077T |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,854,057 (GRCm39) |
H426Q |
probably damaging |
Het |
| Dpp6 |
C |
T |
5: 27,928,575 (GRCm39) |
T799M |
probably damaging |
Het |
| Efs |
C |
T |
14: 55,158,499 (GRCm39) |
G53D |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,890,371 (GRCm39) |
V221A |
probably benign |
Het |
| Gabre |
G |
A |
X: 71,318,259 (GRCm39) |
Q17* |
probably null |
Het |
| Gpld1 |
T |
C |
13: 25,168,192 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
T |
A |
2: 31,058,858 (GRCm39) |
V116D |
probably benign |
Het |
| Ksr1 |
A |
G |
11: 78,911,617 (GRCm39) |
S722P |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,182,661 (GRCm39) |
E532G |
probably damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,158,111 (GRCm39) |
|
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,460,598 (GRCm39) |
D408G |
probably damaging |
Het |
| Mbp |
A |
G |
18: 82,572,670 (GRCm39) |
E122G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,777,836 (GRCm39) |
D1197E |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,220,485 (GRCm39) |
|
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,133 (GRCm39) |
Y258C |
probably benign |
Het |
| Pdcd1lg2 |
A |
G |
19: 29,414,732 (GRCm39) |
E53G |
probably benign |
Het |
| Phex |
G |
T |
X: 156,051,489 (GRCm39) |
A469E |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,019,352 (GRCm39) |
S957P |
probably benign |
Het |
| Ppargc1b |
T |
A |
18: 61,443,946 (GRCm39) |
R406* |
probably null |
Het |
| Ppargc1b |
C |
A |
18: 61,443,945 (GRCm39) |
R422I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Thnsl1 |
G |
T |
2: 21,216,665 (GRCm39) |
A140S |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,076 (GRCm39) |
|
probably benign |
Het |
| Tma7 |
T |
A |
9: 108,911,153 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
G |
10: 105,184,354 (GRCm39) |
S514R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 102,965,006 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,897 (GRCm39) |
I119N |
probably damaging |
Het |
| Wiz |
C |
A |
17: 32,575,876 (GRCm39) |
R843S |
probably damaging |
Het |
| Zfp275 |
T |
A |
X: 72,396,889 (GRCm39) |
S12T |
probably damaging |
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 |
|
|
IGL02120:Huwe1
|
APN |
X |
150,690,386 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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