Incidental Mutation 'R7689:Itch'
| ID |
593246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
| MMRRC Submission |
045753-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7689 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155051922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 614
(K614E)
|
| 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: K614E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: K614E
| 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: K614E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: K614E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
A |
4: 148,029,440 (GRCm39) |
F470Y |
probably damaging |
Het |
| Adra1a |
T |
C |
14: 66,875,250 (GRCm39) |
L75P |
probably damaging |
Het |
| Agap1 |
T |
C |
1: 89,762,188 (GRCm39) |
S560P |
probably damaging |
Het |
| Ahcyl |
T |
C |
16: 45,974,970 (GRCm39) |
T136A |
probably benign |
Het |
| Arrdc4 |
T |
A |
7: 68,391,623 (GRCm39) |
I215L |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,840,610 (GRCm39) |
A97T |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,386,713 (GRCm39) |
T383S |
probably benign |
Het |
| C2cd5 |
G |
A |
6: 142,995,951 (GRCm39) |
R379* |
probably null |
Het |
| Cacna1e |
G |
T |
1: 154,274,549 (GRCm39) |
H2138N |
probably benign |
Het |
| Card14 |
A |
T |
11: 119,216,328 (GRCm39) |
D303V |
possibly damaging |
Het |
| Ccdc202 |
T |
C |
14: 96,119,252 (GRCm39) |
V3A |
probably benign |
Het |
| Cfhr1 |
T |
C |
1: 139,475,478 (GRCm39) |
Y331C |
unknown |
Het |
| Chp1 |
G |
A |
2: 119,415,146 (GRCm39) |
D183N |
probably benign |
Het |
| Cntn2 |
T |
C |
1: 132,443,882 (GRCm39) |
T966A |
probably benign |
Het |
| Cpne9 |
T |
G |
6: 113,266,965 (GRCm39) |
C133G |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,515,948 (GRCm39) |
T121A |
|
Het |
| Cul7 |
C |
T |
17: 46,963,747 (GRCm39) |
Q275* |
probably null |
Het |
| Cyp11b1 |
T |
C |
15: 74,710,897 (GRCm39) |
D221G |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 49,979,685 (GRCm39) |
F107I |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,363,170 (GRCm39) |
I3911V |
probably benign |
Het |
| Eif1ad16 |
A |
G |
12: 87,985,259 (GRCm39) |
Y95H |
probably damaging |
Het |
| Eloa |
T |
C |
4: 135,736,595 (GRCm39) |
H551R |
probably benign |
Het |
| Fam171b |
T |
A |
2: 83,709,732 (GRCm39) |
V468D |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,200,666 (GRCm39) |
W803R |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,163,201 (GRCm39) |
D2G |
probably benign |
Het |
| Fbxo8 |
A |
G |
8: 57,041,120 (GRCm39) |
T179A |
probably benign |
Het |
| Gdap1 |
A |
G |
1: 17,231,623 (GRCm39) |
T323A |
probably damaging |
Het |
| Gm136 |
T |
C |
4: 34,743,875 (GRCm39) |
N323S |
probably null |
Het |
| Gm6899 |
A |
T |
11: 26,543,819 (GRCm39) |
T129S |
unknown |
Het |
| Gnb3 |
A |
T |
6: 124,814,183 (GRCm39) |
C166S |
possibly damaging |
Het |
| Gpr61 |
A |
G |
3: 108,057,966 (GRCm39) |
F232L |
probably damaging |
Het |
| Gpx8 |
T |
C |
13: 113,179,711 (GRCm39) |
M197V |
probably benign |
Het |
| Gse1 |
G |
T |
8: 121,295,217 (GRCm39) |
R446L |
unknown |
Het |
| Itpkb |
T |
G |
1: 180,241,544 (GRCm39) |
M738R |
probably damaging |
Het |
| Jph1 |
T |
A |
1: 17,074,192 (GRCm39) |
K609* |
probably null |
Het |
| Kcns1 |
G |
A |
2: 164,010,241 (GRCm39) |
R173C |
probably damaging |
Het |
| Larp4b |
C |
T |
13: 9,186,834 (GRCm39) |
S54L |
probably damaging |
Het |
| Lonrf1 |
G |
T |
8: 36,715,918 (GRCm39) |
S239* |
probably null |
Het |
| Lyst |
T |
G |
13: 13,857,808 (GRCm39) |
|
probably null |
Het |
| Mccc1 |
T |
A |
3: 36,015,132 (GRCm39) |
R663* |
probably null |
Het |
| Mcm3 |
A |
G |
1: 20,876,997 (GRCm39) |
V646A |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,739,912 (GRCm39) |
L3722P |
probably damaging |
Het |
| Mmp27 |
T |
G |
9: 7,579,002 (GRCm39) |
D392E |
probably damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,279,906 (GRCm39) |
I884T |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,574,439 (GRCm39) |
T963I |
probably benign |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Mucl3 |
C |
A |
17: 35,948,969 (GRCm39) |
S210I |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Ndrg2 |
C |
T |
14: 52,147,812 (GRCm39) |
A102T |
possibly damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,117,566 (GRCm39) |
N411S |
probably benign |
Het |
| Nos1 |
A |
G |
5: 118,035,792 (GRCm39) |
D431G |
probably damaging |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Otog |
T |
C |
7: 45,901,480 (GRCm39) |
L393P |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,736,627 (GRCm39) |
N656S |
probably damaging |
Het |
| Pole3 |
C |
A |
4: 62,443,060 (GRCm39) |
V27F |
probably damaging |
Het |
| Prrt4 |
T |
A |
6: 29,177,140 (GRCm39) |
I210F |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rbpms |
A |
T |
8: 34,354,387 (GRCm39) |
S53T |
possibly damaging |
Het |
| Rgs7 |
C |
A |
1: 174,949,296 (GRCm39) |
V203L |
probably benign |
Het |
| Riok1 |
A |
T |
13: 38,229,263 (GRCm39) |
D150V |
probably damaging |
Het |
| Rrp1b |
T |
C |
17: 32,274,900 (GRCm39) |
L335P |
probably benign |
Het |
| Rsph6a |
T |
G |
7: 18,801,962 (GRCm39) |
I592S |
possibly damaging |
Het |
| Skor1 |
C |
T |
9: 63,052,661 (GRCm39) |
G436D |
probably damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,433,319 (GRCm39) |
T51A |
possibly damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,585,248 (GRCm39) |
S266P |
probably damaging |
Het |
| Socs2 |
A |
G |
10: 95,250,845 (GRCm39) |
|
probably benign |
Het |
| Tas2r106 |
A |
G |
6: 131,655,668 (GRCm39) |
I61T |
possibly damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,051 (GRCm39) |
N77D |
probably damaging |
Het |
| Tmem236 |
T |
A |
2: 14,197,076 (GRCm39) |
L88Q |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,595,088 (GRCm39) |
E954G |
probably damaging |
Het |
| Vmn1r34 |
G |
T |
6: 66,613,994 (GRCm39) |
S248* |
probably null |
Het |
| Wipf1 |
T |
C |
2: 73,262,789 (GRCm39) |
R483G |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,476,946 (GRCm39) |
N3187S |
probably benign |
Het |
| Zfp202 |
C |
A |
9: 40,121,829 (GRCm39) |
P309T |
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,781,469 (GRCm39) |
H431R |
probably damaging |
Het |
| Zfp658 |
T |
A |
7: 43,224,102 (GRCm39) |
H792Q |
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 |
|
|
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 |
|
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'- AGTTCTCCATCAGGTGTTGG -3'
(R):5'- TGGCATGCCTATGGTATAGACG -3'
Sequencing Primer
(F):5'- GCTATCACTGTGTAGACCAGG -3'
(R):5'- CATGCCTATGGTATAGACGAACTTAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation