Incidental Mutation 'R4561:Huwe1'
| ID |
343119 |
| 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 |
041786-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4561 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
150583803-150718413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 150646955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 682
(I682F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108241
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026292]
[ENSMUST00000112622]
[ENSMUST00000123306]
[ENSMUST00000153687]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026292
AA Change: I682F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026292
Gene: ENSMUSG00000025261
AA Change: I682F
| 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 damaging
Transcript: ENSMUST00000112622
AA Change: I682F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108241
Gene: ENSMUSG00000025261
AA Change: I682F
| 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 |
probably benign
Transcript: ENSMUST00000123306
|
| SMART Domains |
Protein: ENSMUSP00000118185
Gene: ENSMUSG00000025261
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF913
|
1 |
132 |
1.4e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131786
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138023
AA Change: I185F
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120057
Gene: ENSMUSG00000025261
AA Change: I185F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF913
|
2 |
318 |
7.3e-110 |
PFAM |
|
low complexity region
|
345 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
556 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
587 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
796 |
818 |
N/A |
INTRINSIC |
|
UBA
|
822 |
858 |
1.3e-4 |
SMART |
|
low complexity region
|
901 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
1030 |
1046 |
N/A |
INTRINSIC |
|
Pfam:WWE
|
1118 |
1176 |
7.5e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175478
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153687
|
| Meta Mutation Damage Score |
0.7056 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
T |
C |
10: 69,837,848 (GRCm39) |
S1601P |
probably damaging |
Het |
| Arnt |
A |
G |
3: 95,359,924 (GRCm39) |
N56D |
probably damaging |
Het |
| Atad5 |
A |
G |
11: 79,986,715 (GRCm39) |
T601A |
probably benign |
Het |
| Calr4 |
A |
G |
4: 109,103,379 (GRCm39) |
N163S |
probably damaging |
Het |
| Cenpc1 |
C |
A |
5: 86,195,491 (GRCm39) |
A93S |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,786,040 (GRCm39) |
H1048Y |
possibly damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,613,696 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
T |
C |
8: 62,395,495 (GRCm39) |
L144P |
probably damaging |
Het |
| Dera |
A |
T |
6: 137,757,736 (GRCm39) |
T96S |
possibly damaging |
Het |
| Dock9 |
T |
A |
14: 121,796,419 (GRCm39) |
M1853L |
probably benign |
Het |
| Erbb4 |
G |
A |
1: 68,383,080 (GRCm39) |
R306* |
probably null |
Het |
| Glyat |
G |
T |
19: 12,628,644 (GRCm39) |
L146F |
possibly damaging |
Het |
| Grk4 |
C |
A |
5: 34,852,157 (GRCm39) |
Q134K |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,245,618 (GRCm39) |
Q181R |
probably benign |
Het |
| Ipo4 |
C |
T |
14: 55,867,546 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
| Kcnd2 |
A |
G |
6: 21,216,395 (GRCm39) |
Q33R |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Klhl30 |
A |
T |
1: 91,288,753 (GRCm39) |
H504L |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,881,439 (GRCm39) |
Y101C |
possibly damaging |
Het |
| Mfn2 |
C |
A |
4: 147,961,492 (GRCm39) |
R707L |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
| Neb |
A |
T |
2: 52,176,167 (GRCm39) |
Y1431N |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,203,774 (GRCm39) |
T625A |
probably damaging |
Het |
| Or5g27 |
G |
T |
2: 85,409,964 (GRCm39) |
C127F |
probably damaging |
Het |
| Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,604,943 (GRCm39) |
L1124Q |
possibly damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,681 (GRCm39) |
F189L |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Slc22a22 |
T |
A |
15: 57,126,781 (GRCm39) |
Q77L |
probably damaging |
Het |
| Slc24a2 |
A |
T |
4: 87,145,634 (GRCm39) |
V140D |
probably damaging |
Het |
| Slc35g2 |
C |
A |
9: 100,435,287 (GRCm39) |
R128L |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Spag7 |
T |
C |
11: 70,555,816 (GRCm39) |
I80M |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,758,015 (GRCm39) |
M164T |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,452,468 (GRCm39) |
|
probably null |
Het |
| Tcte2 |
T |
C |
17: 13,942,864 (GRCm39) |
|
probably benign |
Het |
| Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
| Tmtc4 |
T |
C |
14: 123,200,710 (GRCm39) |
T194A |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,016,562 (GRCm39) |
Y1269C |
probably damaging |
Het |
| Zfp236 |
A |
T |
18: 82,638,531 (GRCm39) |
I1363N |
probably damaging |
Het |
| Zfp760 |
T |
A |
17: 21,942,648 (GRCm39) |
S608T |
probably benign |
Het |
| Zfp947 |
G |
T |
17: 22,365,124 (GRCm39) |
Y183* |
probably null |
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 |
|
|
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 |
|
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'- TGGTAGATAGTCACAAGAAGCAGTTC -3'
(R):5'- AACTGAAGCCCCTGCATATTTG -3'
Sequencing Primer
(F):5'- CCTTAAGGGGATACTGCATC -3'
(R):5'- GAAGCCCCTGCATATTTGTTAATC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation