Incidental Mutation 'R0207:Itch'
ID |
33370 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itch
|
Ensembl Gene |
ENSMUSG00000027598 |
Gene Name |
itchy, E3 ubiquitin protein ligase |
Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
MMRRC Submission |
038460-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0207 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 155044177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 494
(Q494L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029126]
[ENSMUST00000109685]
|
AlphaFold |
Q8C863 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029126
AA Change: Q494L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029126 Gene: ENSMUSG00000027598 AA Change: Q494L
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
AA Change: Q494L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105307 Gene: ENSMUSG00000027598 AA Change: Q494L
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: ENSMUST00000119431
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123497
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142147
|
Meta Mutation Damage Score |
0.0693 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.5%
|
Validation Efficiency |
95% (76/80) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,086,039 (GRCm39) |
F488S |
probably damaging |
Het |
Acap3 |
C |
T |
4: 155,983,881 (GRCm39) |
R116W |
probably damaging |
Het |
Adamts10 |
C |
A |
17: 33,764,364 (GRCm39) |
P663T |
possibly damaging |
Het |
Akap12 |
G |
A |
10: 4,303,333 (GRCm39) |
G48S |
probably damaging |
Het |
Ankrd7 |
T |
A |
6: 18,870,030 (GRCm39) |
M261K |
probably benign |
Het |
Ankzf1 |
C |
A |
1: 75,174,948 (GRCm39) |
D599E |
possibly damaging |
Het |
Aox1 |
T |
C |
1: 58,144,173 (GRCm39) |
I1278T |
possibly damaging |
Het |
Apcdd1 |
T |
C |
18: 63,083,150 (GRCm39) |
Y327H |
probably benign |
Het |
Asxl3 |
T |
A |
18: 22,544,553 (GRCm39) |
|
probably benign |
Het |
Birc6 |
C |
A |
17: 74,969,827 (GRCm39) |
|
probably benign |
Het |
Btaf1 |
T |
A |
19: 36,987,048 (GRCm39) |
L1714* |
probably null |
Het |
Cacng6 |
T |
A |
7: 3,473,520 (GRCm39) |
|
probably benign |
Het |
Cdc20b |
A |
G |
13: 113,215,146 (GRCm39) |
D238G |
probably damaging |
Het |
Celf5 |
T |
A |
10: 81,306,532 (GRCm39) |
R113W |
probably null |
Het |
Cfap251 |
T |
C |
5: 123,421,510 (GRCm39) |
V182A |
probably damaging |
Het |
Cfap70 |
C |
A |
14: 20,462,415 (GRCm39) |
E659D |
probably damaging |
Het |
Clspn |
T |
A |
4: 126,484,391 (GRCm39) |
M1183K |
possibly damaging |
Het |
Dpy19l1 |
G |
A |
9: 24,365,187 (GRCm39) |
R275C |
probably damaging |
Het |
Dst |
C |
T |
1: 34,226,016 (GRCm39) |
S1721L |
probably benign |
Het |
Faap100 |
T |
C |
11: 120,265,191 (GRCm39) |
T562A |
probably damaging |
Het |
Fam168b |
T |
C |
1: 34,858,769 (GRCm39) |
M133V |
probably damaging |
Het |
Farp2 |
T |
C |
1: 93,496,809 (GRCm39) |
I172T |
probably damaging |
Het |
Fer |
T |
G |
17: 64,203,273 (GRCm39) |
S68A |
probably damaging |
Het |
Fmo5 |
A |
G |
3: 97,552,997 (GRCm39) |
E315G |
probably damaging |
Het |
Gpr89 |
A |
T |
3: 96,778,796 (GRCm39) |
F426I |
probably damaging |
Het |
Hinfp |
T |
C |
9: 44,207,624 (GRCm39) |
I461V |
possibly damaging |
Het |
Hsd11b1 |
A |
T |
1: 192,922,556 (GRCm39) |
V167D |
probably damaging |
Het |
Htt |
A |
G |
5: 35,054,252 (GRCm39) |
K2574E |
probably benign |
Het |
I830077J02Rik |
A |
G |
3: 105,833,821 (GRCm39) |
S112P |
probably benign |
Het |
Igf2bp3 |
T |
A |
6: 49,082,551 (GRCm39) |
M344L |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,598,321 (GRCm39) |
|
probably benign |
Het |
Jaml |
T |
A |
9: 45,005,065 (GRCm39) |
D152E |
probably benign |
Het |
Kif22 |
A |
C |
7: 126,641,572 (GRCm39) |
M1R |
probably null |
Het |
Kifap3 |
T |
C |
1: 163,710,955 (GRCm39) |
Y663H |
probably benign |
Het |
Letm2 |
T |
A |
8: 26,068,786 (GRCm39) |
N472I |
probably damaging |
Het |
Mthfr |
T |
G |
4: 148,136,681 (GRCm39) |
V446G |
probably damaging |
Het |
Myh11 |
T |
C |
16: 14,029,124 (GRCm39) |
E1206G |
possibly damaging |
Het |
Myo6 |
G |
A |
9: 80,195,338 (GRCm39) |
V903I |
probably damaging |
Het |
Myo9b |
C |
T |
8: 71,807,869 (GRCm39) |
|
probably benign |
Het |
Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
Nsd3 |
A |
G |
8: 26,173,273 (GRCm39) |
N859S |
probably benign |
Het |
Nucb2 |
C |
A |
7: 116,135,245 (GRCm39) |
A384E |
probably damaging |
Het |
Ogdhl |
C |
A |
14: 32,063,994 (GRCm39) |
|
probably null |
Het |
Or10al3 |
C |
A |
17: 38,011,949 (GRCm39) |
C129* |
probably null |
Het |
Or1e22 |
A |
T |
11: 73,377,401 (GRCm39) |
L83Q |
probably benign |
Het |
Or1i2 |
T |
C |
10: 78,447,705 (GRCm39) |
T257A |
probably benign |
Het |
Or4a74 |
G |
A |
2: 89,440,207 (GRCm39) |
L80F |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Parp10 |
C |
T |
15: 76,126,833 (GRCm39) |
S145N |
probably benign |
Het |
Pigh |
A |
G |
12: 79,130,483 (GRCm39) |
|
probably benign |
Het |
Pigo |
A |
G |
4: 43,023,824 (GRCm39) |
|
probably benign |
Het |
Pkp4 |
T |
A |
2: 59,135,832 (GRCm39) |
V199D |
possibly damaging |
Het |
Polr1e |
C |
A |
4: 45,025,143 (GRCm39) |
|
probably null |
Het |
Ppfia3 |
C |
A |
7: 44,997,958 (GRCm39) |
R723L |
probably damaging |
Het |
Prex1 |
C |
A |
2: 166,427,818 (GRCm39) |
A945S |
possibly damaging |
Het |
Prrt3 |
A |
T |
6: 113,472,801 (GRCm39) |
V457E |
probably damaging |
Het |
Rab39 |
A |
G |
9: 53,617,271 (GRCm39) |
F49L |
possibly damaging |
Het |
Rrs1 |
C |
A |
1: 9,615,987 (GRCm39) |
|
probably null |
Het |
Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,204,722 (GRCm39) |
D8G |
probably benign |
Het |
Slc17a6 |
A |
G |
7: 51,295,928 (GRCm39) |
|
probably benign |
Het |
Slc24a4 |
T |
A |
12: 102,195,210 (GRCm39) |
|
probably null |
Het |
Smc1b |
C |
T |
15: 85,007,960 (GRCm39) |
M272I |
probably benign |
Het |
Smc6 |
T |
C |
12: 11,333,179 (GRCm39) |
|
probably benign |
Het |
Tcf20 |
T |
C |
15: 82,739,286 (GRCm39) |
T722A |
probably benign |
Het |
Tesmin |
A |
T |
19: 3,454,088 (GRCm39) |
M141L |
probably benign |
Het |
Tmprss5 |
T |
A |
9: 49,024,460 (GRCm39) |
H274Q |
possibly damaging |
Het |
Tns1 |
C |
T |
1: 73,976,477 (GRCm39) |
|
probably null |
Het |
Tpr |
T |
C |
1: 150,293,178 (GRCm39) |
S868P |
possibly damaging |
Het |
Trank1 |
C |
T |
9: 111,195,321 (GRCm39) |
T1115I |
probably damaging |
Het |
Trmt44 |
A |
T |
5: 35,730,261 (GRCm39) |
I203K |
possibly damaging |
Het |
Ulk2 |
A |
T |
11: 61,668,611 (GRCm39) |
V1037E |
probably benign |
Het |
Usp43 |
A |
G |
11: 67,767,325 (GRCm39) |
Y682H |
probably damaging |
Het |
Vipr2 |
A |
T |
12: 116,106,502 (GRCm39) |
Q366L |
probably damaging |
Het |
Vmn1r185 |
C |
A |
7: 26,311,014 (GRCm39) |
V164L |
possibly damaging |
Het |
Vmn2r120 |
C |
T |
17: 57,832,052 (GRCm39) |
V246I |
probably benign |
Het |
Wiz |
C |
T |
17: 32,576,007 (GRCm39) |
G790R |
probably damaging |
Het |
Wnk1 |
A |
T |
6: 119,929,694 (GRCm39) |
S1016R |
probably damaging |
Het |
Zc3hav1 |
A |
G |
6: 38,288,109 (GRCm39) |
L909S |
probably benign |
Het |
Zfp236 |
T |
A |
18: 82,658,352 (GRCm39) |
I637F |
probably damaging |
Het |
Zfp788 |
G |
A |
7: 41,299,020 (GRCm39) |
G532D |
probably damaging |
Het |
Zranb1 |
T |
C |
7: 132,552,114 (GRCm39) |
I255T |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTCTTGGAAGCCCCTACAGCAC -3'
(R):5'- CTCTGGACAACCGAAGACATCGTTATC -3'
Sequencing Primer
(F):5'- aaaaaaaaaaaaaaaaaaGCACCCCC -3'
(R):5'- GACTGCTGTGTAACATCAGC -3'
|
Posted On |
2013-05-09 |