Incidental Mutation 'R8428:Itch'
| ID |
653574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
| MMRRC Submission |
067822-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8428 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155010627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 32
(N32D)
|
| 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 benign
Transcript: ENSMUST00000029126
AA Change: N32D
PolyPhen 2
Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: N32D
| 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 benign
Transcript: ENSMUST00000109685
AA Change: N32D
PolyPhen 2
Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: N32D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
A |
G |
10: 126,923,175 (GRCm39) |
I670V |
unknown |
Het |
| Bcan |
G |
T |
3: 87,904,405 (GRCm39) |
T117K |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cbx8 |
C |
A |
11: 118,929,754 (GRCm39) |
V280F |
probably damaging |
Het |
| Ccdc117 |
A |
T |
11: 5,484,350 (GRCm39) |
S163R |
possibly damaging |
Het |
| Ccdc17 |
A |
T |
4: 116,456,823 (GRCm39) |
I509F |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,403,163 (GRCm39) |
V1091A |
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,311,310 (GRCm39) |
T972I |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 90,740,240 (GRCm39) |
L9P |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,051,634 (GRCm39) |
R3053S |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,512,112 (GRCm39) |
N2983I |
probably damaging |
Het |
| Dnah7c |
T |
C |
1: 46,711,536 (GRCm39) |
Y2588H |
probably damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,902,811 (GRCm39) |
D81G |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,653,884 (GRCm39) |
D1387G |
probably benign |
Het |
| Exd1 |
G |
T |
2: 119,369,348 (GRCm39) |
T89K |
possibly damaging |
Het |
| Ezh2 |
T |
A |
6: 47,522,745 (GRCm39) |
R364* |
probably null |
Het |
| Fam161b |
C |
T |
12: 84,404,369 (GRCm39) |
D104N |
probably benign |
Het |
| Fbxw8 |
C |
A |
5: 118,215,763 (GRCm39) |
V416L |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,450,849 (GRCm39) |
D1499V |
probably benign |
Het |
| Fmc1 |
A |
T |
6: 38,516,115 (GRCm39) |
R54* |
probably null |
Het |
| Fzr1 |
A |
G |
10: 81,206,942 (GRCm39) |
F61S |
probably damaging |
Het |
| Get4 |
T |
G |
5: 139,251,393 (GRCm39) |
C160G |
probably benign |
Het |
| Gm32742 |
G |
A |
9: 51,055,675 (GRCm39) |
R1330* |
probably null |
Het |
| Gnat3 |
G |
A |
5: 18,220,312 (GRCm39) |
A225T |
possibly damaging |
Het |
| Gucy2c |
A |
G |
6: 136,704,892 (GRCm39) |
Y541H |
probably damaging |
Het |
| Hand2 |
A |
G |
8: 57,775,461 (GRCm39) |
T174A |
probably benign |
Het |
| Helb |
T |
C |
10: 119,927,522 (GRCm39) |
T863A |
probably damaging |
Het |
| Hoxa7 |
A |
T |
6: 52,194,993 (GRCm39) |
V2D |
unknown |
Het |
| Ifi44 |
G |
A |
3: 151,444,978 (GRCm39) |
R325* |
probably null |
Het |
| Igfn1 |
C |
T |
1: 135,895,520 (GRCm39) |
G1682E |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,744,923 (GRCm39) |
V1673A |
probably benign |
Het |
| Map1a |
A |
T |
2: 121,135,418 (GRCm39) |
D2078V |
probably benign |
Het |
| Mgat4b |
G |
T |
11: 50,121,512 (GRCm39) |
V35L |
probably benign |
Het |
| Micu3 |
G |
A |
8: 40,761,205 (GRCm39) |
M38I |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,387,241 (GRCm39) |
H706L |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,226,017 (GRCm39) |
T42A |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,095,152 (GRCm39) |
M1131K |
probably damaging |
Het |
| Nop14 |
G |
A |
5: 34,798,784 (GRCm39) |
S648L |
probably damaging |
Het |
| Or51k1 |
G |
T |
7: 103,661,632 (GRCm39) |
Y92* |
probably null |
Het |
| Otogl |
A |
G |
10: 107,634,597 (GRCm39) |
V1413A |
probably damaging |
Het |
| Palb2 |
T |
A |
7: 121,711,224 (GRCm39) |
M967L |
possibly damaging |
Het |
| Pira12 |
G |
A |
7: 3,898,257 (GRCm39) |
T355I |
probably benign |
Het |
| Ppa2 |
A |
G |
3: 133,053,904 (GRCm39) |
K198R |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,756 (GRCm39) |
T30A |
probably benign |
Het |
| Prss50 |
C |
T |
9: 110,687,128 (GRCm39) |
R24C |
unknown |
Het |
| Rbm17 |
T |
C |
2: 11,605,441 (GRCm39) |
T38A |
possibly damaging |
Het |
| Rps6ka5 |
G |
A |
12: 100,541,500 (GRCm39) |
Q420* |
probably null |
Het |
| Senp6 |
G |
T |
9: 80,025,794 (GRCm39) |
R448L |
probably damaging |
Het |
| Senp7 |
T |
C |
16: 55,999,391 (GRCm39) |
I838T |
probably damaging |
Het |
| Sf3b2 |
C |
T |
19: 5,337,242 (GRCm39) |
S329N |
possibly damaging |
Het |
| Slc13a4 |
A |
T |
6: 35,245,814 (GRCm39) |
D610E |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 87,145,337 (GRCm39) |
L239P |
probably damaging |
Het |
| Slc39a5 |
T |
A |
10: 128,232,884 (GRCm39) |
H389L |
probably damaging |
Het |
| Syt4 |
A |
G |
18: 31,577,072 (GRCm39) |
L94P |
probably damaging |
Het |
| Tgm5 |
A |
G |
2: 120,879,356 (GRCm39) |
V560A |
probably benign |
Het |
| Thoc5 |
A |
G |
11: 4,876,115 (GRCm39) |
T623A |
probably damaging |
Het |
| Tm7sf2 |
C |
T |
19: 6,113,074 (GRCm39) |
V376I |
probably benign |
Het |
| Tmem268 |
T |
A |
4: 63,496,141 (GRCm39) |
V194E |
probably damaging |
Het |
| Tpr |
C |
A |
1: 150,290,564 (GRCm39) |
R798S |
probably damaging |
Het |
| Trpv5 |
G |
T |
6: 41,630,182 (GRCm39) |
T685K |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,584,774 (GRCm39) |
N22141K |
probably damaging |
Het |
| Txnrd2 |
T |
C |
16: 18,275,048 (GRCm39) |
I353T |
unknown |
Het |
| Upk1a |
A |
G |
7: 30,303,043 (GRCm39) |
Y252H |
probably damaging |
Het |
| Vmn2r118 |
A |
G |
17: 55,915,642 (GRCm39) |
I436T |
probably benign |
Het |
| Vmn2r76 |
T |
A |
7: 85,874,479 (GRCm39) |
I833F |
possibly damaging |
Het |
| Zfp277 |
T |
C |
12: 40,379,577 (GRCm39) |
H319R |
probably damaging |
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 |
|
|
R8691:Itch
|
UTSW |
2 |
155,052,478 (GRCm39) |
nonsense |
probably null |
|
|
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'- ACTCTTTTGGCTGGGCAAGG -3'
(R):5'- AAGCACATTAGAGCGCTCTC -3'
Sequencing Primer
(F):5'- ATGGTCCTGGCACTGACTG -3'
(R):5'- AGCGCTCTCTGCTCAGCAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation