Incidental Mutation 'R0226:Itch'
| ID |
33903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
8030492O04Rik, C230047C07Rik, 6720481N21Rik, AIP4 |
| MMRRC Submission |
038471-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0226 (G1)
|
| Quality Score |
163 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155133509-155226855 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155199394 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 454
(I454T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029126]
[ENSMUST00000109685]
|
| AlphaFold |
Q8C863 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029126
AA Change: I454T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: I454T
| 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: I454T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: I454T
| 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 |
noncoding transcript
Transcript: ENSMUST00000119431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142147
|
| Meta Mutation Damage Score |
0.0677 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
100% (98/98) |
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
T |
14: 59,142,120 (GRCm38) |
T54K |
possibly damaging |
Het |
| 2210408I21Rik |
A |
T |
13: 77,303,425 (GRCm38) |
E876V |
possibly damaging |
Het |
| Aasdh |
A |
T |
5: 76,902,002 (GRCm38) |
L49Q |
probably damaging |
Het |
| Abca8b |
T |
C |
11: 109,957,018 (GRCm38) |
|
probably null |
Het |
| Ablim1 |
A |
T |
19: 57,043,870 (GRCm38) |
L556Q |
probably damaging |
Het |
| Afdn |
A |
G |
17: 13,899,146 (GRCm38) |
T1700A |
probably benign |
Het |
| Agl |
G |
A |
3: 116,752,071 (GRCm38) |
R1359C |
probably damaging |
Het |
| Agpat3 |
T |
A |
10: 78,278,029 (GRCm38) |
H275L |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,670,270 (GRCm38) |
C180* |
probably null |
Het |
| Aim2 |
A |
G |
1: 173,462,333 (GRCm38) |
|
probably benign |
Het |
| Angpt1 |
T |
C |
15: 42,468,235 (GRCm38) |
N320S |
probably benign |
Het |
| Ankrd52 |
T |
A |
10: 128,389,858 (GRCm38) |
|
probably null |
Het |
| Ap1g1 |
C |
T |
8: 109,855,062 (GRCm38) |
S654L |
probably benign |
Het |
| Bpifa1 |
T |
A |
2: 154,146,057 (GRCm38) |
S173R |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,603,894 (GRCm38) |
|
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,274,942 (GRCm38) |
D492N |
possibly damaging |
Het |
| C1qtnf2 |
A |
G |
11: 43,490,843 (GRCm38) |
T161A |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,187,508 (GRCm38) |
Y228C |
probably damaging |
Het |
| Ccdc149 |
A |
G |
5: 52,400,217 (GRCm38) |
L273P |
probably damaging |
Het |
| Cit |
G |
A |
5: 115,984,840 (GRCm38) |
R1405Q |
probably damaging |
Het |
| Cox17 |
T |
C |
16: 38,349,276 (GRCm38) |
L48P |
probably damaging |
Het |
| Cttn |
A |
G |
7: 144,441,852 (GRCm38) |
|
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 71,989,775 (GRCm38) |
|
probably benign |
Het |
| Dtnbp1 |
A |
G |
13: 44,923,193 (GRCm38) |
L175P |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,693,011 (GRCm38) |
|
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,320,910 (GRCm38) |
R2152Q |
possibly damaging |
Het |
| Fignl1 |
A |
T |
11: 11,801,061 (GRCm38) |
S665T |
probably benign |
Het |
| Gm9843 |
A |
T |
16: 76,403,561 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr155 |
C |
T |
2: 73,367,592 (GRCm38) |
V395I |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,522,076 (GRCm38) |
|
probably benign |
Het |
| Hdgfl1 |
A |
T |
13: 26,769,996 (GRCm38) |
H31Q |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,410,562 (GRCm38) |
S628P |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,129,712 (GRCm38) |
T685A |
probably benign |
Het |
| Hmgcl |
T |
G |
4: 135,958,728 (GRCm38) |
V168G |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,115,299 (GRCm38) |
D309G |
possibly damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,842,952 (GRCm38) |
I304V |
probably benign |
Het |
| Kcnh1 |
G |
T |
1: 192,276,805 (GRCm38) |
W222C |
probably damaging |
Het |
| Kcnh1 |
G |
A |
1: 192,276,804 (GRCm38) |
W222* |
probably null |
Het |
| Kif24 |
T |
A |
4: 41,414,939 (GRCm38) |
K287* |
probably null |
Het |
| Lrig3 |
A |
G |
10: 125,972,117 (GRCm38) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,537,563 (GRCm38) |
C202S |
probably null |
Het |
| Lrrc37 |
A |
T |
11: 103,603,241 (GRCm38) |
F663L |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,937,820 (GRCm38) |
N208D |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,126,252 (GRCm38) |
T664I |
possibly damaging |
Het |
| Mfsd10 |
A |
G |
5: 34,634,446 (GRCm38) |
L365S |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,658,690 (GRCm38) |
|
probably benign |
Het |
| Mgat4e |
A |
G |
1: 134,541,103 (GRCm38) |
V401A |
probably benign |
Het |
| Mllt3 |
C |
A |
4: 87,840,732 (GRCm38) |
V360L |
probably benign |
Het |
| Mrm1 |
G |
A |
11: 84,819,170 (GRCm38) |
A68V |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,897,732 (GRCm38) |
|
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,217,166 (GRCm38) |
T311A |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,742,180 (GRCm38) |
F1552L |
probably benign |
Het |
| Myo7b |
C |
T |
18: 31,972,896 (GRCm38) |
V1353I |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,353,832 (GRCm38) |
S1512P |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,176,134 (GRCm38) |
R133Q |
probably damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,353,008 (GRCm38) |
W63R |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,448,201 (GRCm38) |
S703P |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,765,223 (GRCm38) |
I1231T |
probably damaging |
Het |
| Pex16 |
A |
C |
2: 92,375,687 (GRCm38) |
|
probably benign |
Het |
| Pfkl |
T |
C |
10: 77,992,534 (GRCm38) |
N399S |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,526,784 (GRCm38) |
R1432K |
possibly damaging |
Het |
| Prdm1 |
T |
A |
10: 44,456,696 (GRCm38) |
T106S |
probably benign |
Het |
| Prrc1 |
A |
G |
18: 57,363,291 (GRCm38) |
M105V |
probably benign |
Het |
| Psg26 |
A |
G |
7: 18,483,958 (GRCm38) |
C12R |
possibly damaging |
Het |
| Rnf43 |
A |
T |
11: 87,731,437 (GRCm38) |
S455C |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,772,556 (GRCm38) |
K977R |
probably damaging |
Het |
| Sart1 |
C |
T |
19: 5,381,122 (GRCm38) |
|
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 5,180,303 (GRCm38) |
S509G |
probably benign |
Het |
| Sin3b |
A |
T |
8: 72,744,508 (GRCm38) |
E361V |
probably benign |
Het |
| Slc35e3 |
C |
T |
10: 117,740,890 (GRCm38) |
E179K |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,001,583 (GRCm38) |
S388P |
probably damaging |
Het |
| Srms |
A |
G |
2: 181,212,382 (GRCm38) |
S131P |
probably benign |
Het |
| Sting1 |
A |
T |
18: 35,739,088 (GRCm38) |
F120L |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,866,698 (GRCm38) |
|
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,941,495 (GRCm38) |
R311H |
probably benign |
Het |
| Taar2 |
T |
C |
10: 23,941,063 (GRCm38) |
V167A |
probably damaging |
Het |
| Thsd7a |
A |
G |
6: 12,321,900 (GRCm38) |
Y1516H |
possibly damaging |
Het |
| Tlk1 |
T |
A |
2: 70,714,169 (GRCm38) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 19,002,747 (GRCm38) |
K771R |
probably damaging |
Het |
| Treml1 |
C |
T |
17: 48,360,458 (GRCm38) |
L124F |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,780,797 (GRCm38) |
Q9137K |
possibly damaging |
Het |
| Unkl |
T |
A |
17: 25,230,711 (GRCm38) |
I469N |
probably damaging |
Het |
| Vmn1r173 |
G |
T |
7: 23,703,083 (GRCm38) |
V248L |
possibly damaging |
Het |
| Vps35 |
T |
C |
8: 85,273,575 (GRCm38) |
Q474R |
probably damaging |
Het |
| Wdr17 |
T |
A |
8: 54,663,008 (GRCm38) |
T580S |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 53,010,152 (GRCm38) |
K222E |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,049,737 (GRCm38) |
T1446A |
probably benign |
Het |
| Zfp277 |
A |
G |
12: 40,364,162 (GRCm38) |
L228S |
possibly damaging |
Het |
| Zfp941 |
T |
A |
7: 140,813,275 (GRCm38) |
K57M |
probably damaging |
Het |
| Zmpste24 |
A |
T |
4: 121,081,209 (GRCm38) |
S244R |
probably benign |
Het |
|
| Other mutations in Itch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Itch
|
APN |
2 |
155,213,023 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00796:Itch
|
APN |
2 |
155,209,082 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01090:Itch
|
APN |
2 |
155,206,336 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01568:Itch
|
APN |
2 |
155,212,462 (GRCm38) |
splice site |
probably benign |
|
|
IGL01844:Itch
|
APN |
2 |
155,172,486 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01844:Itch
|
APN |
2 |
155,172,547 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
IGL01873:Itch
|
APN |
2 |
155,168,750 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02129:Itch
|
APN |
2 |
155,217,988 (GRCm38) |
splice site |
probably benign |
|
|
IGL02386:Itch
|
APN |
2 |
155,202,261 (GRCm38) |
nonsense |
probably null |
|
|
IGL02545:Itch
|
APN |
2 |
155,172,586 (GRCm38) |
splice site |
probably null |
|
|
IGL02621:Itch
|
APN |
2 |
155,172,584 (GRCm38) |
splice site |
probably null |
|
|
IGL02708:Itch
|
APN |
2 |
155,174,044 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02869:Itch
|
APN |
2 |
155,173,933 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
Abrade
|
UTSW |
2 |
155,209,078 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
dorsolateral
|
UTSW |
2 |
155,210,558 (GRCm38) |
nonsense |
probably null |
|
|
gadfly
|
UTSW |
2 |
155,182,298 (GRCm38) |
nonsense |
probably null |
|
|
hankerin
|
UTSW |
2 |
155,210,582 (GRCm38) |
critical splice donor site |
probably null |
|
|
irresistable
|
UTSW |
2 |
155,203,297 (GRCm38) |
missense |
probably benign |
0.34 |
|
prurient
|
UTSW |
2 |
155,210,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
scratch
|
UTSW |
2 |
155,172,561 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0116:Itch
|
UTSW |
2 |
155,217,983 (GRCm38) |
splice site |
probably benign |
|
|
R0207:Itch
|
UTSW |
2 |
155,202,257 (GRCm38) |
missense |
probably benign |
|
|
R0545:Itch
|
UTSW |
2 |
155,182,298 (GRCm38) |
nonsense |
probably null |
|
|
R0689:Itch
|
UTSW |
2 |
155,182,178 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1365:Itch
|
UTSW |
2 |
155,213,031 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1406:Itch
|
UTSW |
2 |
155,206,354 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1406:Itch
|
UTSW |
2 |
155,206,354 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1436:Itch
|
UTSW |
2 |
155,192,145 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1639:Itch
|
UTSW |
2 |
155,179,025 (GRCm38) |
splice site |
probably null |
|
|
R1769:Itch
|
UTSW |
2 |
155,172,561 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1855:Itch
|
UTSW |
2 |
155,172,454 (GRCm38) |
splice site |
probably benign |
|
|
R1865:Itch
|
UTSW |
2 |
155,168,746 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2008:Itch
|
UTSW |
2 |
155,210,459 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2054:Itch
|
UTSW |
2 |
155,210,576 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2196:Itch
|
UTSW |
2 |
155,202,221 (GRCm38) |
missense |
probably benign |
|
|
R2199:Itch
|
UTSW |
2 |
155,202,221 (GRCm38) |
missense |
probably benign |
|
|
R2252:Itch
|
UTSW |
2 |
155,212,339 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2253:Itch
|
UTSW |
2 |
155,212,339 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2348:Itch
|
UTSW |
2 |
155,209,078 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2850:Itch
|
UTSW |
2 |
155,202,221 (GRCm38) |
missense |
probably benign |
|
|
R3021:Itch
|
UTSW |
2 |
155,209,126 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R4676:Itch
|
UTSW |
2 |
155,199,435 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4716:Itch
|
UTSW |
2 |
155,210,582 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4888:Itch
|
UTSW |
2 |
155,217,977 (GRCm38) |
splice site |
probably null |
|
|
R4970:Itch
|
UTSW |
2 |
155,185,593 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6029:Itch
|
UTSW |
2 |
155,179,089 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6122:Itch
|
UTSW |
2 |
155,174,065 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6435:Itch
|
UTSW |
2 |
155,209,129 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6449:Itch
|
UTSW |
2 |
155,163,395 (GRCm38) |
splice site |
probably benign |
|
|
R7069:Itch
|
UTSW |
2 |
155,209,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7083:Itch
|
UTSW |
2 |
155,210,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7409:Itch
|
UTSW |
2 |
155,199,382 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7689:Itch
|
UTSW |
2 |
155,213,067 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7689:Itch
|
UTSW |
2 |
155,210,002 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7974:Itch
|
UTSW |
2 |
155,192,159 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8046:Itch
|
UTSW |
2 |
155,210,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8248:Itch
|
UTSW |
2 |
155,206,383 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8355:Itch
|
UTSW |
2 |
155,210,582 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8428:Itch
|
UTSW |
2 |
155,168,707 (GRCm38) |
missense |
probably benign |
0.38 |
|
R8691:Itch
|
UTSW |
2 |
155,210,558 (GRCm38) |
nonsense |
probably null |
|
|
R8779:Itch
|
UTSW |
2 |
155,172,520 (GRCm38) |
missense |
probably benign |
0.28 |
|
R9010:Itch
|
UTSW |
2 |
155,179,071 (GRCm38) |
missense |
probably benign |
|
|
R9130:Itch
|
UTSW |
2 |
155,210,125 (GRCm38) |
splice site |
probably benign |
|
|
R9278:Itch
|
UTSW |
2 |
155,203,297 (GRCm38) |
missense |
probably benign |
0.34 |
|
Z1177:Itch
|
UTSW |
2 |
155,209,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGGACCGAACCGCTTCTCATAC -3'
(R):5'- CCACCAAGATTCAGTGTACAGTGCC -3'
Sequencing Primer
(F):5'- ACCTCATACAGGTTCAGTCGG -3'
(R):5'- CCCACCTCAAGTACAACTTTGTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation