Incidental Mutation 'R8248:Itch'
| ID |
640362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
| MMRRC Submission |
067675-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8248 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 155048303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
| 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
|
| SMART Domains |
Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (60/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
C |
16: 19,702,556 (GRCm39) |
D24G |
noncoding transcript |
Het |
| Adam32 |
A |
G |
8: 25,391,486 (GRCm39) |
S343P |
possibly damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 20,847,991 (GRCm39) |
D466E |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,310 (GRCm39) |
V198E |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,731,434 (GRCm39) |
H658L |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,366,072 (GRCm39) |
I781N |
probably damaging |
Het |
| Bloc1s6 |
A |
T |
2: 122,584,565 (GRCm39) |
R47* |
probably null |
Het |
| Clk2 |
G |
A |
3: 89,080,811 (GRCm39) |
V266M |
probably damaging |
Het |
| Cul9 |
A |
C |
17: 46,840,940 (GRCm39) |
Y777D |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dcp1a |
C |
T |
14: 30,201,555 (GRCm39) |
|
probably benign |
Het |
| Dnajb2 |
T |
G |
1: 75,220,226 (GRCm39) |
D248E |
|
Het |
| Dpy19l1 |
T |
C |
9: 24,414,191 (GRCm39) |
H79R |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,784,371 (GRCm39) |
S643P |
probably damaging |
Het |
| Evi5 |
A |
G |
5: 107,966,753 (GRCm39) |
|
probably null |
Het |
| Fam76b |
T |
C |
9: 13,742,398 (GRCm39) |
C110R |
probably damaging |
Het |
| Galnt7 |
T |
A |
8: 57,991,222 (GRCm39) |
K429N |
probably benign |
Het |
| Gm10142 |
T |
A |
10: 77,551,950 (GRCm39) |
C104S |
probably damaging |
Het |
| Gm7298 |
A |
C |
6: 121,764,402 (GRCm39) |
H1427P |
probably benign |
Het |
| Golga7b |
A |
T |
19: 42,255,310 (GRCm39) |
I87F |
probably damaging |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Gpr25 |
C |
A |
1: 136,188,415 (GRCm39) |
R66L |
probably benign |
Het |
| H2-Q2 |
A |
G |
17: 35,563,841 (GRCm39) |
N241D |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,144,881 (GRCm39) |
D179G |
probably benign |
Het |
| Itsn2 |
T |
C |
12: 4,712,052 (GRCm39) |
V913A |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,225,354 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,937,375 (GRCm39) |
I655T |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,581,667 (GRCm39) |
S817R |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,755,733 (GRCm39) |
M503L |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,875,229 (GRCm39) |
T1380A |
probably damaging |
Het |
| Mfap1a |
G |
T |
2: 121,336,976 (GRCm39) |
T16K |
possibly damaging |
Het |
| Mroh2b |
C |
T |
15: 4,960,586 (GRCm39) |
T773I |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nudt7 |
A |
G |
8: 114,878,737 (GRCm39) |
Y255C |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,891,089 (GRCm39) |
T310A |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,406,942 (GRCm39) |
I2393R |
probably damaging |
Het |
| Pmm1 |
A |
C |
15: 81,844,932 (GRCm39) |
L24R |
possibly damaging |
Het |
| Pram1 |
T |
C |
17: 33,860,138 (GRCm39) |
V235A |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,330,877 (GRCm39) |
T599A |
unknown |
Het |
| Prpf40b |
A |
G |
15: 99,214,166 (GRCm39) |
K812E |
unknown |
Het |
| Qars1 |
G |
A |
9: 108,386,651 (GRCm39) |
A155T |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,184,478 (GRCm39) |
|
probably benign |
Het |
| Rom1 |
T |
A |
19: 8,906,045 (GRCm39) |
R165W |
probably damaging |
Het |
| Rps6kb2 |
T |
A |
19: 4,206,987 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,768,546 (GRCm39) |
W2808R |
probably damaging |
Het |
| Sh3gl1 |
A |
G |
17: 56,326,038 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
A |
T |
19: 8,347,563 (GRCm39) |
M279K |
probably benign |
Het |
| Snx11 |
A |
G |
11: 96,660,759 (GRCm39) |
S184P |
unknown |
Het |
| Srgap1 |
A |
G |
10: 121,640,722 (GRCm39) |
C692R |
probably damaging |
Het |
| Srgap3 |
T |
C |
6: 112,700,104 (GRCm39) |
N982S |
probably damaging |
Het |
| Stac |
T |
A |
9: 111,422,813 (GRCm39) |
D270V |
probably benign |
Het |
| Syn3 |
T |
A |
10: 85,970,885 (GRCm39) |
I246F |
probably benign |
Het |
| Tnr |
T |
C |
1: 159,719,663 (GRCm39) |
V980A |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,419,001 (GRCm39) |
A47E |
possibly damaging |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,936 (GRCm39) |
N192S |
probably benign |
Het |
| Zmym4 |
C |
A |
4: 126,799,162 (GRCm39) |
V725L |
possibly 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 |
|
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 |
|
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'- ACCTACAGTGGAGCAAGTGG -3'
(R):5'- GGCTGGCTGACACTAGTTACTG -3'
Sequencing Primer
(F):5'- GGAGGTGGTGGTGATGTCTCC -3'
(R):5'- GCACTGAGTGACTCTCTGAAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation