Incidental Mutation 'IGL01568:Itch'
| ID |
91073 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01568
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 155054382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029126]
[ENSMUST00000109685]
|
| AlphaFold |
Q8C863 |
| Predicted Effect |
probably benign
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123497
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,258,270 (GRCm39) |
L298* |
probably null |
Het |
| Capn15 |
G |
T |
17: 26,184,419 (GRCm39) |
R21S |
probably damaging |
Het |
| Cbs |
A |
G |
17: 31,840,488 (GRCm39) |
L290P |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,229,798 (GRCm39) |
I144T |
probably benign |
Het |
| Dok4 |
T |
A |
8: 95,593,430 (GRCm39) |
I119F |
probably benign |
Het |
| Dpp9 |
T |
C |
17: 56,498,159 (GRCm39) |
N599S |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,867,361 (GRCm39) |
T984A |
unknown |
Het |
| Fcrl2 |
T |
C |
3: 87,163,986 (GRCm39) |
N381S |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,253,219 (GRCm39) |
I1390V |
probably benign |
Het |
| Gabbr1 |
A |
G |
17: 37,381,561 (GRCm39) |
Y775C |
probably damaging |
Het |
| Gimap9 |
A |
G |
6: 48,654,550 (GRCm39) |
T46A |
probably benign |
Het |
| Gm3696 |
T |
C |
14: 18,435,020 (GRCm39) |
N88S |
probably benign |
Het |
| Gm5277 |
A |
G |
3: 78,799,743 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr153 |
C |
A |
4: 152,366,825 (GRCm39) |
|
probably null |
Het |
| Hgf |
A |
T |
5: 16,769,812 (GRCm39) |
K95N |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,902,872 (GRCm39) |
S2393P |
possibly damaging |
Het |
| Ikbke |
C |
A |
1: 131,185,633 (GRCm39) |
|
probably null |
Het |
| Il17re |
G |
T |
6: 113,447,013 (GRCm39) |
R588L |
probably damaging |
Het |
| Krt1c |
T |
A |
15: 101,721,646 (GRCm39) |
D465V |
probably damaging |
Het |
| Krt28 |
G |
T |
11: 99,262,243 (GRCm39) |
P249Q |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,038 (GRCm39) |
D234E |
probably benign |
Het |
| Mtmr3 |
A |
G |
11: 4,477,861 (GRCm39) |
I61T |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,353,609 (GRCm39) |
Q1217K |
probably benign |
Het |
| Nt5dc3 |
A |
G |
10: 86,669,802 (GRCm39) |
T466A |
probably benign |
Het |
| Or5bw2 |
A |
T |
7: 6,573,569 (GRCm39) |
H193L |
possibly damaging |
Het |
| Or8s2 |
T |
C |
15: 98,276,787 (GRCm39) |
D68G |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,054 (GRCm39) |
V340A |
possibly damaging |
Het |
| Pclo |
C |
T |
5: 14,728,443 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,163,463 (GRCm39) |
V2152I |
probably benign |
Het |
| Pip4k2b |
A |
T |
11: 97,620,378 (GRCm39) |
|
probably null |
Het |
| Ptprs |
G |
A |
17: 56,720,958 (GRCm39) |
H1432Y |
probably damaging |
Het |
| Rars1 |
A |
G |
11: 35,716,808 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
A |
G |
6: 54,499,739 (GRCm39) |
|
probably benign |
Het |
| Sdr42e1 |
T |
C |
8: 118,390,182 (GRCm39) |
Y153C |
probably damaging |
Het |
| Slc18a1 |
A |
T |
8: 69,518,278 (GRCm39) |
S245R |
probably damaging |
Het |
| Spmip4 |
A |
G |
6: 50,550,678 (GRCm39) |
|
probably benign |
Het |
| Tns1 |
T |
G |
1: 73,992,668 (GRCm39) |
D670A |
probably damaging |
Het |
| Trim16 |
T |
A |
11: 62,711,684 (GRCm39) |
D118E |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,129,269 (GRCm39) |
D62G |
probably benign |
Het |
| Tyr |
A |
G |
7: 87,087,156 (GRCm39) |
L452P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,148,684 (GRCm39) |
C1723R |
probably damaging |
Het |
| Uqcrb |
G |
A |
13: 67,049,459 (GRCm39) |
|
probably benign |
Het |
| Vax2 |
G |
T |
6: 83,688,519 (GRCm39) |
V81L |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,463,106 (GRCm39) |
V691A |
unknown |
Het |
| Zfp335 |
A |
G |
2: 164,736,708 (GRCm39) |
S976P |
possibly damaging |
Het |
| Zfp384 |
C |
T |
6: 125,001,095 (GRCm39) |
P56S |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation