Incidental Mutation 'IGL02868:Huwe1'
| ID |
362394 |
| 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 # |
IGL02868
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
150583803-150718413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 150691829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 2538
(R2538H)
|
| 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: R2539H
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026292
Gene: ENSMUSG00000025261
AA Change: R2539H
| 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: ENSMUST00000083602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083668
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112622
AA Change: R2538H
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108241
Gene: ENSMUSG00000025261
AA Change: R2538H
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap4 |
A |
G |
X: 72,944,008 (GRCm39) |
I224T |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,621,639 (GRCm39) |
D758G |
probably damaging |
Het |
| Clca3b |
C |
A |
3: 144,533,325 (GRCm39) |
G569V |
probably damaging |
Het |
| Dlgap4 |
G |
A |
2: 156,542,816 (GRCm39) |
R73Q |
probably damaging |
Het |
| Efcc1 |
C |
T |
6: 87,728,743 (GRCm39) |
|
probably benign |
Het |
| Eno3 |
T |
A |
11: 70,552,826 (GRCm39) |
V369E |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,222,425 (GRCm39) |
C1022* |
probably null |
Het |
| Grhl3 |
T |
C |
4: 135,281,915 (GRCm39) |
D319G |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,965 (GRCm39) |
L2001H |
probably benign |
Het |
| Ms4a4d |
T |
A |
19: 11,527,646 (GRCm39) |
I51N |
probably damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,761,588 (GRCm39) |
N522S |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,966 (GRCm39) |
I133T |
probably damaging |
Het |
| Ninl |
A |
G |
2: 150,778,974 (GRCm39) |
Y1296H |
probably benign |
Het |
| Nipal3 |
A |
G |
4: 135,194,182 (GRCm39) |
S284P |
probably damaging |
Het |
| Or4k40 |
A |
T |
2: 111,250,838 (GRCm39) |
F153I |
possibly damaging |
Het |
| Or5g9 |
A |
T |
2: 85,551,919 (GRCm39) |
T57S |
probably benign |
Het |
| Pramel5 |
G |
T |
4: 143,997,922 (GRCm39) |
N440K |
probably benign |
Het |
| Rabep1 |
T |
C |
11: 70,765,572 (GRCm39) |
V12A |
probably benign |
Het |
| Rbm5 |
G |
T |
9: 107,626,899 (GRCm39) |
|
probably benign |
Het |
| Ric3 |
T |
C |
7: 108,653,626 (GRCm39) |
E155G |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,954,507 (GRCm39) |
M897K |
probably benign |
Het |
| Slc39a8 |
G |
T |
3: 135,561,787 (GRCm39) |
A169S |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Synrg |
G |
A |
11: 83,877,876 (GRCm39) |
|
probably benign |
Het |
| Tas2r107 |
T |
C |
6: 131,636,249 (GRCm39) |
T267A |
probably benign |
Het |
| Tead3 |
G |
T |
17: 28,552,069 (GRCm39) |
Y354* |
probably null |
Het |
| Trim3 |
T |
C |
7: 105,262,239 (GRCm39) |
K579R |
possibly damaging |
Het |
| Uaca |
A |
T |
9: 60,770,919 (GRCm39) |
K362M |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,316 (GRCm39) |
I658T |
possibly damaging |
Het |
| Vps13b |
C |
T |
15: 35,884,665 (GRCm39) |
P3113S |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,738,734 (GRCm39) |
S115P |
probably damaging |
Het |
| Zfp683 |
G |
A |
4: 133,783,177 (GRCm39) |
V214M |
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 |
|
|
IGL02120:Huwe1
|
APN |
X |
150,690,386 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02176:Huwe1
|
APN |
X |
150,686,964 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
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 |
2015-12-18 |
Incidental Mutation