Incidental Mutation 'IGL01844:Itch'
ID |
178147 |
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 # |
IGL01844
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 155014467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 101
(D101E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029126]
[ENSMUST00000109685]
|
AlphaFold |
Q8C863 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029126
AA Change: D101E
PolyPhen 2
Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000029126 Gene: ENSMUSG00000027598 AA Change: D101E
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 |
possibly damaging
Transcript: ENSMUST00000109685
AA Change: D101E
PolyPhen 2
Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000105307 Gene: ENSMUSG00000027598 AA Change: D101E
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142147
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155360
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
G |
17: 84,989,453 (GRCm39) |
I85T |
probably damaging |
Het |
Amer2 |
A |
G |
14: 60,617,356 (GRCm39) |
D391G |
possibly damaging |
Het |
Atp13a3 |
A |
T |
16: 30,180,781 (GRCm39) |
C83S |
probably benign |
Het |
Bdh2 |
A |
T |
3: 134,994,080 (GRCm39) |
Q54L |
probably benign |
Het |
Cep128 |
A |
G |
12: 90,975,628 (GRCm39) |
S1051P |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,396,138 (GRCm39) |
T865A |
probably damaging |
Het |
Epha8 |
C |
A |
4: 136,658,360 (GRCm39) |
*1005L |
probably null |
Het |
Etl4 |
T |
C |
2: 20,811,493 (GRCm39) |
V1509A |
probably benign |
Het |
Gucy1b1 |
T |
C |
3: 81,953,833 (GRCm39) |
E161G |
possibly damaging |
Het |
Hepacam |
T |
A |
9: 37,291,912 (GRCm39) |
V80E |
probably damaging |
Het |
Ireb2 |
A |
G |
9: 54,772,641 (GRCm39) |
K24E |
probably benign |
Het |
Kctd16 |
A |
G |
18: 40,390,373 (GRCm39) |
I115M |
probably damaging |
Het |
Klf7 |
C |
A |
1: 64,117,933 (GRCm39) |
Q221H |
probably benign |
Het |
Kptn |
A |
G |
7: 15,857,897 (GRCm39) |
T242A |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,334,485 (GRCm39) |
F4420S |
probably benign |
Het |
Mthfd2 |
A |
G |
6: 83,288,792 (GRCm39) |
|
probably null |
Het |
Mtrf1l |
A |
C |
10: 5,764,112 (GRCm39) |
L284V |
probably null |
Het |
Neb |
C |
T |
2: 52,060,561 (GRCm39) |
V2259I |
probably benign |
Het |
Or4c111 |
A |
T |
2: 88,843,814 (GRCm39) |
V198E |
possibly damaging |
Het |
Or9i14 |
A |
T |
19: 13,792,180 (GRCm39) |
M258K |
possibly damaging |
Het |
Padi1 |
A |
T |
4: 140,556,746 (GRCm39) |
C154S |
probably damaging |
Het |
Paxip1 |
T |
C |
5: 27,956,036 (GRCm39) |
T903A |
probably benign |
Het |
Phactr2 |
T |
A |
10: 13,129,181 (GRCm39) |
L292F |
probably benign |
Het |
Pkhd1l1 |
G |
A |
15: 44,362,796 (GRCm39) |
|
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,940,985 (GRCm39) |
|
probably null |
Het |
Rif1 |
T |
A |
2: 52,002,555 (GRCm39) |
I2003K |
probably benign |
Het |
Rxfp3 |
A |
T |
15: 11,037,132 (GRCm39) |
V80E |
probably damaging |
Het |
Sart3 |
T |
A |
5: 113,883,709 (GRCm39) |
K768* |
probably null |
Het |
Slc35f5 |
C |
T |
1: 125,517,612 (GRCm39) |
T470I |
probably damaging |
Het |
Smg8 |
A |
T |
11: 86,971,102 (GRCm39) |
Y890N |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,068,968 (GRCm39) |
V372A |
possibly damaging |
Het |
Tbc1d30 |
A |
T |
10: 121,103,084 (GRCm39) |
D649E |
probably benign |
Het |
Tctn3 |
G |
A |
19: 40,600,581 (GRCm39) |
T3I |
probably damaging |
Het |
Tns3 |
G |
A |
11: 8,387,177 (GRCm39) |
P1337S |
possibly damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,434,135 (GRCm39) |
*856C |
probably null |
Het |
Vmn2r61 |
A |
T |
7: 41,909,639 (GRCm39) |
I55F |
probably benign |
Het |
Zbtb41 |
C |
T |
1: 139,375,065 (GRCm39) |
P842S |
probably benign |
Het |
Zc3h13 |
A |
G |
14: 75,581,209 (GRCm39) |
|
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 |
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 |
2014-05-07 |