Incidental Mutation 'R1247:Huwe1'
ID |
152174 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Huwe1
|
Ensembl Gene |
ENSMUSG00000025261 |
Gene Name |
HECT, UBA and WWE domain containing 1 |
Synonyms |
Arf-bp1, Mule, Ureb1, LOC382250, 5430439H10Rik, Ib772, C430014N20Rik |
MMRRC Submission |
039314-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1247 (G1)
|
Quality Score |
222 |
Status
|
Not validated
|
Chromosome |
X |
Chromosomal Location |
150583803-150718413 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 150684566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 2199
(S2199T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108241
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026292]
[ENSMUST00000112622]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026292
AA Change: S2200T
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000026292 Gene: ENSMUSG00000025261 AA Change: S2200T
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 |
probably benign
Transcript: ENSMUST00000112622
AA Change: S2199T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000108241 Gene: ENSMUSG00000025261 AA Change: S2199T
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: ENSMUST00000150426
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
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: 11 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
Brca2 |
C |
A |
5: 150,464,739 (GRCm39) |
A1501D |
probably damaging |
Het |
Ctbp2 |
G |
C |
7: 132,596,918 (GRCm39) |
R722G |
probably benign |
Het |
Cyp3a44 |
A |
G |
5: 145,728,477 (GRCm39) |
F249S |
probably damaging |
Het |
Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
Samd4 |
AGG |
AG |
14: 47,301,785 (GRCm39) |
|
probably benign |
Het |
Samd4 |
G |
GAAA |
14: 47,325,215 (GRCm39) |
|
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Sox15 |
T |
C |
11: 69,547,320 (GRCm39) |
F190S |
probably benign |
Het |
Syne2 |
G |
A |
12: 76,014,264 (GRCm39) |
A3153T |
probably benign |
Het |
Tbr1 |
C |
T |
2: 61,641,962 (GRCm39) |
P409L |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTAAAAGCCCATGTCTGGCCTAGT -3'
(R):5'- GGCTAAATTACACTGCAAGGCAGC -3'
Sequencing Primer
(F):5'- GAACAAGAGTTGTGTTCACACC -3'
(R):5'- TGTAGAAAAGCAGTCATCATTTCAG -3'
|
Posted On |
2014-01-29 |