Incidental Mutation 'R8691:Itch'
| ID |
668354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
| MMRRC Submission |
068545-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8691 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 155052478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 693
(E693*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029126]
[ENSMUST00000109685]
|
| AlphaFold |
Q8C863 |
| PDB Structure |
Itch E3 ubiquitin ligase WW3 domain [SOLUTION NMR]
Mouse Itch 3rd WW domain complex with the Epstein-Barr virus latent membrane protein 2A derived peptide EEPPPPYED [SOLUTION NMR]
Mouse Itch 3rd domain phosphorylated in T30 [SOLUTION NMR]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000029126
AA Change: E693*
|
| SMART Domains |
Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: E693*
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
19 |
114 |
3.56e-12 |
SMART |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
259 |
N/A |
INTRINSIC |
|
WW
|
288 |
320 |
1.07e-12 |
SMART |
|
WW
|
321 |
352 |
3.86e-10 |
SMART |
|
WW
|
400 |
432 |
7.36e-16 |
SMART |
|
WW
|
440 |
472 |
6.82e-11 |
SMART |
|
HECTc
|
528 |
864 |
7.04e-179 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109685
AA Change: E693*
|
| SMART Domains |
Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: E693*
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
19 |
114 |
3.56e-12 |
SMART |
|
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
259 |
N/A |
INTRINSIC |
|
WW
|
288 |
320 |
1.07e-12 |
SMART |
|
WW
|
321 |
352 |
3.86e-10 |
SMART |
|
WW
|
400 |
432 |
7.36e-16 |
SMART |
|
WW
|
440 |
472 |
6.82e-11 |
SMART |
|
HECTc
|
528 |
864 |
7.04e-179 |
SMART |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for an ENU mutation exhibit increased total IgE levels in the peripheral blood and an enhanced IgE response to the cysteine protease allergen, papain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082J24Rik |
G |
T |
5: 30,310,287 (GRCm39) |
A24E |
unknown |
Het |
| Acap1 |
A |
G |
11: 69,781,003 (GRCm39) |
L117P |
probably damaging |
Het |
| Actl6b |
G |
A |
5: 137,565,585 (GRCm39) |
G394S |
probably damaging |
Het |
| Actr3b |
G |
T |
5: 26,030,202 (GRCm39) |
V177F |
possibly damaging |
Het |
| Adamts6 |
A |
G |
13: 104,450,839 (GRCm39) |
T341A |
probably benign |
Het |
| Agbl4 |
G |
T |
4: 111,520,156 (GRCm39) |
V474F |
probably benign |
Het |
| Atosa |
A |
T |
9: 74,917,335 (GRCm39) |
T652S |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,516,517 (GRCm39) |
S353P |
probably benign |
Het |
| C1qtnf9 |
G |
A |
14: 61,017,141 (GRCm39) |
D224N |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,421,260 (GRCm39) |
N121Y |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,078 (GRCm39) |
Y773N |
possibly damaging |
Het |
| Cbfa2t2 |
C |
A |
2: 154,342,403 (GRCm39) |
P40T |
possibly damaging |
Het |
| Colec10 |
A |
C |
15: 54,298,420 (GRCm39) |
E60D |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,800,280 (GRCm39) |
V1647A |
probably benign |
Het |
| Cyp2d34 |
A |
G |
15: 82,502,471 (GRCm39) |
F222L |
probably benign |
Het |
| Dennd1b |
A |
T |
1: 138,969,774 (GRCm39) |
I97F |
possibly damaging |
Het |
| Deptor |
A |
C |
15: 55,083,596 (GRCm39) |
D388A |
possibly damaging |
Het |
| Dhx40 |
T |
C |
11: 86,690,419 (GRCm39) |
K201E |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,145,850 (GRCm39) |
R854C |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,877,517 (GRCm39) |
I409V |
possibly damaging |
Het |
| Eif1ad16 |
T |
G |
12: 87,985,278 (GRCm39) |
K88N |
probably damaging |
Het |
| Esp31 |
G |
T |
17: 38,955,592 (GRCm39) |
L78F |
possibly damaging |
Het |
| Fam98c |
A |
T |
7: 28,852,889 (GRCm39) |
V48E |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,853,264 (GRCm39) |
E1517V |
possibly damaging |
Het |
| Fgfr1 |
A |
T |
8: 26,052,253 (GRCm39) |
D193V |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,775 (GRCm39) |
|
probably benign |
Het |
| Gm17078 |
A |
T |
14: 51,848,693 (GRCm39) |
F15I |
probably damaging |
Het |
| Grid2 |
G |
T |
6: 63,480,321 (GRCm39) |
R45L |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,904,223 (GRCm39) |
V1175A |
probably benign |
Het |
| Hspa1b |
T |
C |
17: 35,176,072 (GRCm39) |
I638V |
possibly damaging |
Het |
| Ighv6-7 |
A |
G |
12: 114,419,304 (GRCm39) |
V100A |
probably benign |
Het |
| Ivl |
G |
A |
3: 92,478,823 (GRCm39) |
S414L |
unknown |
Het |
| Kif5b |
T |
A |
18: 6,225,787 (GRCm39) |
N160I |
probably benign |
Het |
| Klhl5 |
A |
G |
5: 65,306,881 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
C |
T |
12: 16,623,660 (GRCm39) |
|
probably benign |
Het |
| Malsu1 |
C |
A |
6: 49,052,171 (GRCm39) |
H130Q |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,297,676 (GRCm39) |
L787V |
probably damaging |
Het |
| Nynrin |
C |
T |
14: 56,110,106 (GRCm39) |
R1738W |
probably damaging |
Het |
| Or11g27 |
A |
G |
14: 50,770,910 (GRCm39) |
T14A |
probably benign |
Het |
| Or4e1 |
A |
T |
14: 52,701,358 (GRCm39) |
I36N |
possibly damaging |
Het |
| Or51d1 |
C |
T |
7: 102,347,777 (GRCm39) |
Q111* |
probably null |
Het |
| Or7e176 |
T |
A |
9: 20,171,747 (GRCm39) |
S204T |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,706 (GRCm39) |
T364A |
unknown |
Het |
| Phlda2 |
A |
C |
7: 143,056,206 (GRCm39) |
S8A |
probably benign |
Het |
| Pou3f1 |
G |
A |
4: 124,551,549 (GRCm39) |
G17E |
unknown |
Het |
| Ppfibp2 |
A |
G |
7: 107,346,785 (GRCm39) |
D899G |
probably damaging |
Het |
| Pskh1 |
T |
C |
8: 106,639,833 (GRCm39) |
V171A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,816,513 (GRCm39) |
T1262A |
probably damaging |
Het |
| Rnf41 |
T |
C |
10: 128,274,077 (GRCm39) |
V243A |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,427,182 (GRCm39) |
N1162K |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,602,005 (GRCm39) |
L1419* |
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,880,313 (GRCm39) |
C1954R |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,674,161 (GRCm39) |
I622F |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,796,110 (GRCm39) |
E673G |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,262,110 (GRCm39) |
I340T |
probably damaging |
Het |
| Vmn2r110 |
G |
T |
17: 20,803,404 (GRCm39) |
D390E |
probably benign |
Het |
|
| Other mutations in Itch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Itch
|
APN |
2 |
155,054,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00796:Itch
|
APN |
2 |
155,051,002 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01090:Itch
|
APN |
2 |
155,048,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01568:Itch
|
APN |
2 |
155,054,382 (GRCm39) |
splice site |
probably benign |
|
|
IGL01844:Itch
|
APN |
2 |
155,014,406 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01844:Itch
|
APN |
2 |
155,014,467 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01873:Itch
|
APN |
2 |
155,010,670 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02129:Itch
|
APN |
2 |
155,059,908 (GRCm39) |
splice site |
probably benign |
|
|
IGL02386:Itch
|
APN |
2 |
155,044,181 (GRCm39) |
nonsense |
probably null |
|
|
IGL02545:Itch
|
APN |
2 |
155,014,506 (GRCm39) |
splice site |
probably null |
|
|
IGL02621:Itch
|
APN |
2 |
155,014,504 (GRCm39) |
splice site |
probably null |
|
|
IGL02708:Itch
|
APN |
2 |
155,015,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02869:Itch
|
APN |
2 |
155,015,853 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Abrade
|
UTSW |
2 |
155,050,998 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
dorsolateral
|
UTSW |
2 |
155,052,478 (GRCm39) |
nonsense |
probably null |
|
|
gadfly
|
UTSW |
2 |
155,024,218 (GRCm39) |
nonsense |
probably null |
|
|
hankerin
|
UTSW |
2 |
155,052,502 (GRCm39) |
critical splice donor site |
probably null |
|
|
irresistable
|
UTSW |
2 |
155,045,217 (GRCm39) |
missense |
probably benign |
0.34 |
|
prurient
|
UTSW |
2 |
155,052,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
scratch
|
UTSW |
2 |
155,014,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0116:Itch
|
UTSW |
2 |
155,059,903 (GRCm39) |
splice site |
probably benign |
|
|
R0207:Itch
|
UTSW |
2 |
155,044,177 (GRCm39) |
missense |
probably benign |
|
|
R0226:Itch
|
UTSW |
2 |
155,041,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0545:Itch
|
UTSW |
2 |
155,024,218 (GRCm39) |
nonsense |
probably null |
|
|
R0689:Itch
|
UTSW |
2 |
155,024,098 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1365:Itch
|
UTSW |
2 |
155,054,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1406:Itch
|
UTSW |
2 |
155,048,274 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1406:Itch
|
UTSW |
2 |
155,048,274 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1436:Itch
|
UTSW |
2 |
155,034,065 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1639:Itch
|
UTSW |
2 |
155,020,945 (GRCm39) |
splice site |
probably null |
|
|
R1769:Itch
|
UTSW |
2 |
155,014,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1855:Itch
|
UTSW |
2 |
155,014,374 (GRCm39) |
splice site |
probably benign |
|
|
R1865:Itch
|
UTSW |
2 |
155,010,666 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2008:Itch
|
UTSW |
2 |
155,052,379 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2054:Itch
|
UTSW |
2 |
155,052,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2196:Itch
|
UTSW |
2 |
155,044,141 (GRCm39) |
missense |
probably benign |
|
|
R2199:Itch
|
UTSW |
2 |
155,044,141 (GRCm39) |
missense |
probably benign |
|
|
R2252:Itch
|
UTSW |
2 |
155,054,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2253:Itch
|
UTSW |
2 |
155,054,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2348:Itch
|
UTSW |
2 |
155,050,998 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2850:Itch
|
UTSW |
2 |
155,044,141 (GRCm39) |
missense |
probably benign |
|
|
R3021:Itch
|
UTSW |
2 |
155,051,046 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4676:Itch
|
UTSW |
2 |
155,041,355 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4716:Itch
|
UTSW |
2 |
155,052,502 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4888:Itch
|
UTSW |
2 |
155,059,897 (GRCm39) |
splice site |
probably null |
|
|
R4970:Itch
|
UTSW |
2 |
155,027,513 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6029:Itch
|
UTSW |
2 |
155,021,009 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6122:Itch
|
UTSW |
2 |
155,015,985 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6435:Itch
|
UTSW |
2 |
155,051,049 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6449:Itch
|
UTSW |
2 |
155,005,315 (GRCm39) |
splice site |
probably benign |
|
|
R7069:Itch
|
UTSW |
2 |
155,051,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Itch
|
UTSW |
2 |
155,052,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7409:Itch
|
UTSW |
2 |
155,041,302 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7689:Itch
|
UTSW |
2 |
155,054,987 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7689:Itch
|
UTSW |
2 |
155,051,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7974:Itch
|
UTSW |
2 |
155,034,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Itch
|
UTSW |
2 |
155,052,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Itch
|
UTSW |
2 |
155,048,303 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8355:Itch
|
UTSW |
2 |
155,052,502 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8428:Itch
|
UTSW |
2 |
155,010,627 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8779:Itch
|
UTSW |
2 |
155,014,440 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9010:Itch
|
UTSW |
2 |
155,020,991 (GRCm39) |
missense |
probably benign |
|
|
R9130:Itch
|
UTSW |
2 |
155,052,045 (GRCm39) |
splice site |
probably benign |
|
|
R9278:Itch
|
UTSW |
2 |
155,045,217 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1177:Itch
|
UTSW |
2 |
155,050,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCATCCAAGGTCTTAAGTAGTAAC -3'
(R):5'- ATGCCACCCTTTACCATTATTAGAC -3'
Sequencing Primer
(F):5'- GGCTTATTGCTTAAACTCAGAATTTG -3'
(R):5'- GTACACGCTATGCTCCTGAGTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation