Incidental Mutation 'R8355:Itch'
| ID |
660263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
| MMRRC Submission |
067869-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8355 (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 A
at 155052502 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 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 null
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 |
|
| Meta Mutation Damage Score |
0.9498 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (48/49) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,638,478 (GRCm39) |
H145Q |
probably benign |
Het |
| Acsf2 |
A |
T |
11: 94,461,450 (GRCm39) |
M293K |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,275,700 (GRCm39) |
R1112Q |
|
Het |
| Ano8 |
T |
C |
8: 71,933,210 (GRCm39) |
|
probably benign |
Het |
| Ap3b2 |
A |
T |
7: 81,122,851 (GRCm39) |
V462E |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,448,174 (GRCm39) |
Q498R |
unknown |
Het |
| AW011738 |
C |
A |
4: 156,287,837 (GRCm39) |
|
probably benign |
Het |
| Bhlhe41 |
T |
A |
6: 145,811,028 (GRCm39) |
|
probably null |
Het |
| Bnc1 |
A |
C |
7: 81,618,624 (GRCm39) |
S814A |
probably damaging |
Het |
| Bnip5 |
T |
A |
17: 29,122,249 (GRCm39) |
Q414L |
probably damaging |
Het |
| Cage1 |
A |
T |
13: 38,203,225 (GRCm39) |
L613H |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,033,355 (GRCm39) |
I231V |
probably damaging |
Het |
| Catspere2 |
T |
C |
1: 177,845,276 (GRCm39) |
Y99H |
possibly damaging |
Het |
| Ccdc50 |
A |
G |
16: 27,236,101 (GRCm39) |
Y145C |
probably benign |
Het |
| Cdcp1 |
A |
G |
9: 123,002,888 (GRCm39) |
S728P |
probably benign |
Het |
| Chrm3 |
A |
T |
13: 9,928,646 (GRCm39) |
M130K |
probably damaging |
Het |
| Csf1r |
T |
C |
18: 61,261,222 (GRCm39) |
F766S |
probably damaging |
Het |
| Dact3 |
A |
G |
7: 16,617,125 (GRCm39) |
D108G |
probably damaging |
Het |
| Dnaaf5 |
ACCCAGCACCTGGAGATCGTCC |
ACC |
5: 139,147,614 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
C |
17: 30,914,152 (GRCm39) |
L1099F |
possibly damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gk5 |
T |
C |
9: 96,032,839 (GRCm39) |
V274A |
possibly damaging |
Het |
| Gnpat |
T |
C |
8: 125,597,579 (GRCm39) |
F47S |
probably benign |
Het |
| Gsap |
G |
T |
5: 21,456,017 (GRCm39) |
G374* |
probably null |
Het |
| Gtf2h2 |
A |
T |
13: 100,605,503 (GRCm39) |
F368Y |
possibly damaging |
Het |
| Gvin1 |
A |
T |
7: 105,757,312 (GRCm39) |
W2386R |
possibly damaging |
Het |
| Ighe |
A |
T |
12: 113,235,167 (GRCm39) |
L331* |
probably null |
Het |
| Iqank1 |
C |
A |
15: 75,906,073 (GRCm39) |
Q87K |
probably benign |
Het |
| Lars2 |
G |
A |
9: 123,283,780 (GRCm39) |
A683T |
probably damaging |
Het |
| Lin7a |
C |
T |
10: 107,218,497 (GRCm39) |
R14C |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,346,828 (GRCm39) |
S806N |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,284,018 (GRCm39) |
M81K |
probably benign |
Het |
| Mcm3ap |
C |
A |
10: 76,329,335 (GRCm39) |
T1172K |
probably benign |
Het |
| Mrm3 |
A |
T |
11: 76,141,164 (GRCm39) |
M391L |
possibly damaging |
Het |
| Myo9a |
T |
C |
9: 59,817,130 (GRCm39) |
S2278P |
probably damaging |
Het |
| Ncln |
T |
C |
10: 81,323,703 (GRCm39) |
K511E |
probably damaging |
Het |
| Or2y17 |
G |
T |
11: 49,231,592 (GRCm39) |
V78L |
possibly damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,258 (GRCm39) |
K87R |
probably benign |
Het |
| Pcdhb10 |
G |
T |
18: 37,545,134 (GRCm39) |
G70V |
probably damaging |
Het |
| Phf24 |
A |
G |
4: 42,933,735 (GRCm39) |
E39G |
probably benign |
Het |
| Plat |
C |
A |
8: 23,261,758 (GRCm39) |
S52* |
probably null |
Het |
| Pramel52-ps |
T |
C |
5: 94,531,772 (GRCm39) |
C219R |
probably damaging |
Het |
| Ptpru |
C |
A |
4: 131,535,811 (GRCm39) |
G389C |
probably damaging |
Het |
| Rnpep |
T |
C |
1: 135,195,005 (GRCm39) |
D407G |
probably damaging |
Het |
| Rttn |
G |
A |
18: 89,047,016 (GRCm39) |
V893I |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,634,473 (GRCm39) |
L428P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,652,229 (GRCm39) |
L1596F |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,523,616 (GRCm39) |
C140R |
probably damaging |
Het |
| Usp17le |
A |
T |
7: 104,418,752 (GRCm39) |
M130K |
possibly damaging |
Het |
| Vmn2r92 |
T |
G |
17: 18,405,061 (GRCm39) |
I735S |
probably damaging |
Het |
| Zbtb42 |
A |
T |
12: 112,645,969 (GRCm39) |
Y48F |
probably damaging |
Het |
| Zbtb43 |
C |
T |
2: 33,345,120 (GRCm39) |
G35D |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,109,876 (GRCm39) |
C189S |
unknown |
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 |
|
R8248:Itch
|
UTSW |
2 |
155,048,303 (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'- GAACTGCATCCAAGGTCTTAAG -3'
(R):5'- TGCTGTCAAAAGAAACGTTGTC -3'
Sequencing Primer
(F):5'- CTGCATCCAAGGTCTTAAGTAGTAAC -3'
(R):5'- GTACACGCTATGCTCCTGAGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation