Incidental Mutation 'R7409:Itch'
ID |
574898 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itch
|
Ensembl Gene |
ENSMUSG00000027598 |
Gene Name |
itchy, E3 ubiquitin protein ligase |
Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
MMRRC Submission |
045490-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7409 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 155041302 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 450
(T450K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029126]
[ENSMUST00000109685]
|
AlphaFold |
Q8C863 |
PDB Structure |
Itch E3 ubiquitin ligase WW3 domain [SOLUTION NMR]
Mouse Itch 3rd WW domain complex with the Epstein-Barr virus latent membrane protein 2A derived peptide EEPPPPYED [SOLUTION NMR]
Mouse Itch 3rd domain phosphorylated in T30 [SOLUTION NMR]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029126
AA Change: T450K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029126 Gene: ENSMUSG00000027598 AA Change: T450K
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 damaging
Transcript: ENSMUST00000109685
AA Change: T450K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105307 Gene: ENSMUSG00000027598 AA Change: T450K
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 |
0.6135 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
98% (82/84) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
C |
T |
4: 129,912,862 (GRCm39) |
A1329V |
probably benign |
Het |
Aida |
A |
G |
1: 183,099,809 (GRCm39) |
T215A |
probably benign |
Het |
Alpk2 |
A |
G |
18: 65,440,023 (GRCm39) |
S457P |
probably benign |
Het |
Ap4b1 |
G |
A |
3: 103,719,474 (GRCm39) |
V63I |
probably damaging |
Het |
Apaf1 |
A |
G |
10: 90,903,108 (GRCm39) |
V182A |
probably damaging |
Het |
B4galnt4 |
G |
A |
7: 140,646,916 (GRCm39) |
|
probably null |
Het |
Bltp2 |
G |
T |
11: 78,159,583 (GRCm39) |
R544L |
probably damaging |
Het |
Cacna1a |
T |
G |
8: 85,260,031 (GRCm39) |
D331E |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,419,423 (GRCm39) |
|
probably null |
Het |
Cdkn1b |
A |
T |
6: 134,898,280 (GRCm39) |
Q133L |
probably benign |
Het |
Cep192 |
G |
C |
18: 67,967,874 (GRCm39) |
S786T |
possibly damaging |
Het |
Cfap418 |
T |
A |
4: 10,881,834 (GRCm39) |
C94S |
probably benign |
Het |
Cfap97 |
G |
A |
8: 46,645,733 (GRCm39) |
R537H |
probably benign |
Het |
Clpx |
C |
G |
9: 65,231,529 (GRCm39) |
A552G |
possibly damaging |
Het |
Cryl1 |
G |
A |
14: 57,523,842 (GRCm39) |
T240I |
probably damaging |
Het |
Ddx60 |
C |
A |
8: 62,411,612 (GRCm39) |
T488K |
probably benign |
Het |
Dennd4b |
A |
G |
3: 90,181,259 (GRCm39) |
H805R |
probably benign |
Het |
Dnmbp |
T |
C |
19: 43,878,996 (GRCm39) |
D25G |
unknown |
Het |
Dysf |
A |
C |
6: 84,126,664 (GRCm39) |
D1293A |
probably benign |
Het |
Efl1 |
T |
C |
7: 82,347,121 (GRCm39) |
L549P |
probably damaging |
Het |
Eif5 |
T |
C |
12: 111,506,697 (GRCm39) |
|
probably benign |
Het |
Eva1c |
A |
G |
16: 90,666,544 (GRCm39) |
K156E |
probably damaging |
Het |
Fbxw10 |
T |
G |
11: 62,767,606 (GRCm39) |
V814G |
possibly damaging |
Het |
Gfap |
C |
T |
11: 102,785,358 (GRCm39) |
R206Q |
probably benign |
Het |
Gjb6 |
A |
T |
14: 57,361,610 (GRCm39) |
L217* |
probably null |
Het |
Gpatch11 |
T |
A |
17: 79,146,595 (GRCm39) |
L80Q |
probably damaging |
Het |
Gramd1b |
T |
C |
9: 40,238,727 (GRCm39) |
Q225R |
probably damaging |
Het |
Gsdmc2 |
A |
G |
15: 63,705,195 (GRCm39) |
S173P |
possibly damaging |
Het |
Hars1 |
C |
G |
18: 36,903,166 (GRCm39) |
R388P |
probably damaging |
Het |
Ighm |
C |
T |
12: 113,385,852 (GRCm39) |
R129H |
|
Het |
Igsf9 |
A |
G |
1: 172,322,841 (GRCm39) |
I602V |
probably benign |
Het |
Inpp4b |
T |
G |
8: 82,679,314 (GRCm39) |
|
probably null |
Het |
Kcnq1 |
T |
C |
7: 142,663,152 (GRCm39) |
F20L |
unknown |
Het |
Kmt2d |
G |
T |
15: 98,753,235 (GRCm39) |
A153E |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,398,263 (GRCm39) |
N750I |
probably damaging |
Het |
Marveld2 |
T |
A |
13: 100,747,984 (GRCm39) |
H365L |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
Mettl8 |
A |
T |
2: 70,803,687 (GRCm39) |
V200E |
probably damaging |
Het |
Mrgbp |
T |
G |
2: 180,227,135 (GRCm39) |
S157A |
possibly damaging |
Het |
Mrps35 |
A |
G |
6: 146,957,481 (GRCm39) |
T169A |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,526,180 (GRCm39) |
Y551N |
probably damaging |
Het |
Myo18b |
T |
C |
5: 113,021,971 (GRCm39) |
R474G |
probably benign |
Het |
Nfx1 |
T |
A |
4: 41,021,830 (GRCm39) |
S979R |
possibly damaging |
Het |
Nlrp1a |
T |
C |
11: 71,013,634 (GRCm39) |
T539A |
probably benign |
Het |
Oca2 |
T |
A |
7: 56,064,145 (GRCm39) |
D713E |
probably benign |
Het |
Omt2b |
A |
C |
9: 78,235,894 (GRCm39) |
Y73S |
probably benign |
Het |
Or10aa1 |
T |
A |
1: 173,870,099 (GRCm39) |
H194Q |
probably benign |
Het |
Or13a27 |
C |
T |
7: 139,925,318 (GRCm39) |
V195I |
probably benign |
Het |
Or6c38 |
A |
G |
10: 128,929,081 (GRCm39) |
I254T |
probably damaging |
Het |
Or6c69 |
A |
T |
10: 129,748,120 (GRCm39) |
V9D |
possibly damaging |
Het |
Pde11a |
G |
T |
2: 75,836,328 (GRCm39) |
Q20K |
|
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Phrf1 |
C |
A |
7: 140,839,205 (GRCm39) |
T800K |
unknown |
Het |
Polr1f |
T |
G |
12: 33,486,988 (GRCm39) |
C150W |
possibly damaging |
Het |
Pramel4 |
T |
C |
4: 143,795,061 (GRCm39) |
S486P |
probably benign |
Het |
Proc |
T |
C |
18: 32,260,513 (GRCm39) |
D204G |
probably benign |
Het |
Rasgrp3 |
T |
A |
17: 75,823,411 (GRCm39) |
I494N |
possibly damaging |
Het |
Samm50 |
A |
G |
15: 84,081,231 (GRCm39) |
D53G |
probably benign |
Het |
Satb1 |
T |
C |
17: 52,116,217 (GRCm39) |
D22G |
possibly damaging |
Het |
Scarf2 |
T |
C |
16: 17,624,918 (GRCm39) |
S658P |
probably damaging |
Het |
Sfta2 |
T |
A |
17: 35,925,410 (GRCm39) |
I29K |
unknown |
Het |
Slc15a4 |
A |
T |
5: 127,681,742 (GRCm39) |
S292T |
probably benign |
Het |
Slc37a1 |
C |
T |
17: 31,559,237 (GRCm39) |
T439I |
probably damaging |
Het |
Slc4a9 |
C |
A |
18: 36,663,858 (GRCm39) |
P294Q |
probably damaging |
Het |
Slc52a3 |
T |
C |
2: 151,846,086 (GRCm39) |
S16P |
probably damaging |
Het |
Slc6a15 |
A |
G |
10: 103,244,163 (GRCm39) |
I468V |
probably benign |
Het |
Spag17 |
T |
C |
3: 99,934,547 (GRCm39) |
S610P |
possibly damaging |
Het |
Spag17 |
A |
T |
3: 99,941,475 (GRCm39) |
D738V |
probably benign |
Het |
Ssbp4 |
T |
C |
8: 71,050,617 (GRCm39) |
R269G |
unknown |
Het |
Tbl1xr1 |
A |
G |
3: 22,257,354 (GRCm39) |
T406A |
possibly damaging |
Het |
Tep1 |
A |
T |
14: 51,104,312 (GRCm39) |
V194D |
possibly damaging |
Het |
Thbs4 |
A |
T |
13: 92,909,767 (GRCm39) |
C343* |
probably null |
Het |
Tmed10 |
A |
T |
12: 85,391,065 (GRCm39) |
S158T |
possibly damaging |
Het |
Trbv3 |
T |
A |
6: 41,025,524 (GRCm39) |
V38E |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,743,772 (GRCm39) |
M1258T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,589,320 (GRCm39) |
D21281G |
probably damaging |
Het |
Usp54 |
T |
C |
14: 20,602,313 (GRCm39) |
R1346G |
probably damaging |
Het |
Vmn2r8 |
C |
A |
5: 108,956,449 (GRCm39) |
E58* |
probably null |
Het |
Vps13d |
C |
T |
4: 144,867,824 (GRCm39) |
E2009K |
|
Het |
Vps33b |
T |
C |
7: 79,935,017 (GRCm39) |
I320T |
probably damaging |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Ythdf1 |
T |
C |
2: 180,553,786 (GRCm39) |
Y143C |
probably damaging |
Het |
Zfp213 |
C |
T |
17: 23,778,603 (GRCm39) |
|
probably null |
Het |
Zfp219 |
A |
T |
14: 52,244,570 (GRCm39) |
Y536* |
probably null |
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 |
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'- TGGGTCTGGATCCCGAAATG -3'
(R):5'- GGCCCACCTCAAGTACAACTTTG -3'
Sequencing Primer
(F):5'- AAATGCCTGTCTGCAGCCATG -3'
(R):5'- CAAGGCTGATTTTCCCGT -3'
|
Posted On |
2019-10-07 |