Incidental Mutation 'R0226:Itch'
| ID |
33903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, 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 |
154975429-155068775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155041314 bp (GRCm39)
|
| 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: 59,379,569 (GRCm39) |
T54K |
possibly damaging |
Het |
| 2210408I21Rik |
A |
T |
13: 77,451,544 (GRCm39) |
E876V |
possibly damaging |
Het |
| Aasdh |
A |
T |
5: 77,049,849 (GRCm39) |
L49Q |
probably damaging |
Het |
| Abca8b |
T |
C |
11: 109,847,844 (GRCm39) |
|
probably null |
Het |
| Ablim1 |
A |
T |
19: 57,032,302 (GRCm39) |
L556Q |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,119,408 (GRCm39) |
T1700A |
probably benign |
Het |
| Agl |
G |
A |
3: 116,545,720 (GRCm39) |
R1359C |
probably damaging |
Het |
| Agpat3 |
T |
A |
10: 78,113,863 (GRCm39) |
H275L |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,577,586 (GRCm39) |
C180* |
probably null |
Het |
| Aim2 |
A |
G |
1: 173,289,899 (GRCm39) |
|
probably benign |
Het |
| Angpt1 |
T |
C |
15: 42,331,631 (GRCm39) |
N320S |
probably benign |
Het |
| Ankrd52 |
T |
A |
10: 128,225,727 (GRCm39) |
|
probably null |
Het |
| Ap1g1 |
C |
T |
8: 110,581,694 (GRCm39) |
S654L |
probably benign |
Het |
| Bpifa1 |
T |
A |
2: 153,987,977 (GRCm39) |
S173R |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,736,947 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,670 (GRCm39) |
T161A |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,271,965 (GRCm39) |
Y228C |
probably damaging |
Het |
| Ccdc149 |
A |
G |
5: 52,557,559 (GRCm39) |
L273P |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,122,899 (GRCm39) |
R1405Q |
probably damaging |
Het |
| Cox17 |
T |
C |
16: 38,169,638 (GRCm39) |
L48P |
probably damaging |
Het |
| Cttn |
A |
G |
7: 143,995,589 (GRCm39) |
|
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,743,619 (GRCm39) |
|
probably benign |
Het |
| Dtnbp1 |
A |
G |
13: 45,076,669 (GRCm39) |
L175P |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,342,219 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,162,830 (GRCm39) |
R2152Q |
possibly damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,061 (GRCm39) |
S665T |
probably benign |
Het |
| Gm9843 |
A |
T |
16: 76,200,449 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr155 |
C |
T |
2: 73,197,936 (GRCm39) |
V395I |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,522,076 (GRCm39) |
|
probably benign |
Het |
| Hdgfl1 |
A |
T |
13: 26,953,979 (GRCm39) |
H31Q |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,425,443 (GRCm39) |
S628P |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,005,456 (GRCm39) |
T685A |
probably benign |
Het |
| Hmgcl |
T |
G |
4: 135,686,039 (GRCm39) |
V168G |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,120,110 (GRCm39) |
D309G |
possibly damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,819,935 (GRCm39) |
I304V |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 191,959,112 (GRCm39) |
W222* |
probably null |
Het |
| Kcnh1 |
G |
T |
1: 191,959,113 (GRCm39) |
W222C |
probably damaging |
Het |
| Kif24 |
T |
A |
4: 41,414,939 (GRCm39) |
K287* |
probably null |
Het |
| Lrig3 |
A |
G |
10: 125,807,986 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,367,907 (GRCm39) |
C202S |
probably null |
Het |
| Lrrc37 |
A |
T |
11: 103,494,067 (GRCm39) |
F663L |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,865,558 (GRCm39) |
N208D |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,852,880 (GRCm39) |
T664I |
possibly damaging |
Het |
| Mfsd10 |
A |
G |
5: 34,791,790 (GRCm39) |
L365S |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,697,849 (GRCm39) |
|
probably benign |
Het |
| Mgat4e |
A |
G |
1: 134,468,841 (GRCm39) |
V401A |
probably benign |
Het |
| Mllt3 |
C |
A |
4: 87,758,969 (GRCm39) |
V360L |
probably benign |
Het |
| Mrm1 |
G |
A |
11: 84,709,996 (GRCm39) |
A68V |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,788,558 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,047,510 (GRCm39) |
T311A |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,875,251 (GRCm39) |
F1552L |
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,105,949 (GRCm39) |
V1353I |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,806,476 (GRCm39) |
S1512P |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,329,988 (GRCm39) |
W63R |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,641 (GRCm39) |
S703P |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,815,237 (GRCm39) |
I1231T |
probably damaging |
Het |
| Pex16 |
A |
C |
2: 92,206,032 (GRCm39) |
|
probably benign |
Het |
| Pfkl |
T |
C |
10: 77,828,368 (GRCm39) |
N399S |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,390,180 (GRCm39) |
R1432K |
possibly damaging |
Het |
| Prdm1 |
T |
A |
10: 44,332,692 (GRCm39) |
T106S |
probably benign |
Het |
| Prrc1 |
A |
G |
18: 57,496,363 (GRCm39) |
M105V |
probably benign |
Het |
| Psg26 |
A |
G |
7: 18,217,883 (GRCm39) |
C12R |
possibly damaging |
Het |
| Rnf43 |
A |
T |
11: 87,622,263 (GRCm39) |
S455C |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,787,442 (GRCm39) |
K977R |
probably damaging |
Het |
| Sart1 |
C |
T |
19: 5,431,150 (GRCm39) |
|
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,998,167 (GRCm39) |
S509G |
probably benign |
Het |
| Sin3b |
A |
T |
8: 73,471,136 (GRCm39) |
E361V |
probably benign |
Het |
| Slc35e3 |
C |
T |
10: 117,576,795 (GRCm39) |
E179K |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,728,215 (GRCm39) |
S388P |
probably damaging |
Het |
| Srms |
A |
G |
2: 180,854,175 (GRCm39) |
S131P |
probably benign |
Het |
| Sting1 |
A |
T |
18: 35,872,141 (GRCm39) |
F120L |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,742,442 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
T |
C |
10: 23,816,961 (GRCm39) |
V167A |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,321,899 (GRCm39) |
Y1516H |
possibly damaging |
Het |
| Tlk1 |
T |
A |
2: 70,544,513 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,878,495 (GRCm39) |
K771R |
probably damaging |
Het |
| Treml1 |
C |
T |
17: 48,667,486 (GRCm39) |
L124F |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,611,141 (GRCm39) |
Q9137K |
possibly damaging |
Het |
| Unkl |
T |
A |
17: 25,449,685 (GRCm39) |
I469N |
probably damaging |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,508 (GRCm39) |
V248L |
possibly damaging |
Het |
| Vps35 |
T |
C |
8: 86,000,204 (GRCm39) |
Q474R |
probably damaging |
Het |
| Wdr17 |
T |
A |
8: 55,116,043 (GRCm39) |
T580S |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,998,583 (GRCm39) |
K222E |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,096,511 (GRCm39) |
T1446A |
probably benign |
Het |
| Zfp277 |
A |
G |
12: 40,414,161 (GRCm39) |
L228S |
possibly damaging |
Het |
| Zfp941 |
T |
A |
7: 140,393,188 (GRCm39) |
K57M |
probably damaging |
Het |
| Zmpste24 |
A |
T |
4: 120,938,406 (GRCm39) |
S244R |
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 |
|
|
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 |
|
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'- TAGGGACCGAACCGCTTCTCATAC -3'
(R):5'- CCACCAAGATTCAGTGTACAGTGCC -3'
Sequencing Primer
(F):5'- ACCTCATACAGGTTCAGTCGG -3'
(R):5'- CCCACCTCAAGTACAACTTTGTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation