Incidental Mutation 'R4676:Itch'
ID |
349549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itch
|
Ensembl Gene |
ENSMUSG00000027598 |
Gene Name |
itchy, E3 ubiquitin protein ligase |
Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
MMRRC Submission |
042013-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4676 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 155041355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 468
(I468L)
|
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: I468L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000029126 Gene: ENSMUSG00000027598 AA Change: I468L
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: I468L
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000105307 Gene: ENSMUSG00000027598 AA Change: I468L
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 |
0.0625 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (93/95) |
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 |
3110009E18Rik |
T |
A |
1: 120,078,382 (GRCm39) |
I13N |
probably damaging |
Het |
Abcd3 |
T |
A |
3: 121,567,815 (GRCm39) |
T409S |
possibly damaging |
Het |
Acad12 |
C |
A |
5: 121,745,234 (GRCm39) |
W317L |
probably damaging |
Het |
Acap1 |
T |
A |
11: 69,780,294 (GRCm39) |
M50L |
probably benign |
Het |
Acvr1b |
T |
A |
15: 101,100,867 (GRCm39) |
V343E |
probably damaging |
Het |
Adgb |
C |
A |
10: 10,302,454 (GRCm39) |
G371W |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,082,774 (GRCm39) |
K1966R |
probably damaging |
Het |
Akap9 |
C |
T |
5: 4,114,515 (GRCm39) |
Q48* |
probably null |
Het |
Ano10 |
T |
C |
9: 122,092,853 (GRCm39) |
R159G |
probably damaging |
Het |
Anxa7 |
T |
C |
14: 20,517,983 (GRCm39) |
M128V |
probably benign |
Het |
Arhgef40 |
C |
A |
14: 52,228,416 (GRCm39) |
C554* |
probably null |
Het |
Atf6 |
T |
C |
1: 170,614,979 (GRCm39) |
Y538C |
probably damaging |
Het |
Atp8b1 |
A |
C |
18: 64,671,749 (GRCm39) |
D1091E |
probably benign |
Het |
BC034090 |
A |
G |
1: 155,102,010 (GRCm39) |
Y85H |
possibly damaging |
Het |
Bcas2 |
A |
G |
3: 103,083,017 (GRCm39) |
|
probably benign |
Het |
Bnc2 |
T |
C |
4: 84,211,056 (GRCm39) |
N463D |
probably damaging |
Het |
Capn7 |
A |
T |
14: 31,081,216 (GRCm39) |
H411L |
possibly damaging |
Het |
Cavin3 |
T |
C |
7: 105,130,320 (GRCm39) |
E164G |
probably damaging |
Het |
Ccdc191 |
T |
C |
16: 43,759,536 (GRCm39) |
|
probably benign |
Het |
Ccdc88b |
A |
G |
19: 6,830,368 (GRCm39) |
V858A |
probably benign |
Het |
Clcn3 |
A |
G |
8: 61,383,685 (GRCm39) |
|
probably benign |
Het |
Commd6 |
T |
C |
14: 101,877,720 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
C |
A |
13: 113,505,341 (GRCm39) |
L2157I |
probably damaging |
Het |
Cspg4b |
T |
G |
13: 113,505,342 (GRCm39) |
L2157R |
probably damaging |
Het |
Cul3 |
G |
A |
1: 80,249,391 (GRCm39) |
L561F |
probably damaging |
Het |
Cyfip1 |
T |
A |
7: 55,524,761 (GRCm39) |
I131N |
probably damaging |
Het |
Dlgap3 |
T |
A |
4: 127,127,554 (GRCm39) |
Y741N |
probably damaging |
Het |
Dnaaf10 |
T |
C |
11: 17,179,794 (GRCm39) |
V265A |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,295,406 (GRCm39) |
I1380F |
possibly damaging |
Het |
Dync1h1 |
G |
T |
12: 110,628,975 (GRCm39) |
L4177F |
probably damaging |
Het |
Ethe1 |
G |
A |
7: 24,307,319 (GRCm39) |
V178M |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,445,153 (GRCm39) |
|
probably null |
Het |
Get3 |
C |
T |
8: 85,745,502 (GRCm39) |
A219T |
probably benign |
Het |
Glt8d1 |
T |
C |
14: 30,728,649 (GRCm39) |
F26L |
probably benign |
Het |
Gm5493 |
T |
A |
17: 22,967,054 (GRCm39) |
D63E |
probably benign |
Het |
Gm9996 |
T |
A |
10: 29,019,834 (GRCm39) |
|
probably benign |
Het |
Gnl2 |
T |
G |
4: 124,947,266 (GRCm39) |
S629R |
possibly damaging |
Het |
Gpbp1l1 |
T |
C |
4: 116,447,462 (GRCm39) |
S381P |
probably damaging |
Het |
Igsf10 |
A |
C |
3: 59,233,370 (GRCm39) |
F1788V |
probably benign |
Het |
Inpp5d |
C |
A |
1: 87,642,864 (GRCm39) |
P935Q |
probably damaging |
Het |
Itga5 |
A |
T |
15: 103,265,637 (GRCm39) |
Y192N |
probably damaging |
Het |
Itih3 |
T |
A |
14: 30,643,643 (GRCm39) |
Q121L |
possibly damaging |
Het |
Itih3 |
T |
A |
14: 30,640,906 (GRCm39) |
Q302L |
probably null |
Het |
Kctd17 |
T |
A |
15: 78,319,959 (GRCm39) |
|
probably benign |
Het |
Lsm1 |
T |
C |
8: 26,283,717 (GRCm39) |
L43P |
probably damaging |
Het |
Magi3 |
A |
T |
3: 103,923,141 (GRCm39) |
M1192K |
probably benign |
Het |
Mecom |
A |
G |
3: 30,322,817 (GRCm39) |
|
probably benign |
Het |
Minar1 |
A |
G |
9: 89,483,606 (GRCm39) |
V597A |
probably damaging |
Het |
Mtmr3 |
A |
T |
11: 4,477,855 (GRCm39) |
F63Y |
probably benign |
Het |
Naa16 |
A |
G |
14: 79,573,788 (GRCm39) |
|
probably benign |
Het |
Neto1 |
A |
T |
18: 86,416,427 (GRCm39) |
T45S |
possibly damaging |
Het |
Nlrp4a |
A |
T |
7: 26,149,654 (GRCm39) |
R420S |
probably damaging |
Het |
Nr1h4 |
T |
C |
10: 89,309,736 (GRCm39) |
D317G |
probably damaging |
Het |
Or8b53 |
A |
G |
9: 38,666,955 (GRCm39) |
|
probably benign |
Het |
Or9i16 |
C |
T |
19: 13,864,765 (GRCm39) |
D270N |
probably damaging |
Het |
Or9q2 |
T |
A |
19: 13,772,838 (GRCm39) |
I46F |
possibly damaging |
Het |
Pde5a |
A |
T |
3: 122,541,542 (GRCm39) |
M11L |
possibly damaging |
Het |
Plxnb1 |
G |
A |
9: 108,939,503 (GRCm39) |
R1416Q |
possibly damaging |
Het |
Polm |
A |
T |
11: 5,785,749 (GRCm39) |
Y141* |
probably null |
Het |
Rxfp1 |
A |
G |
3: 79,612,975 (GRCm39) |
F32L |
probably damaging |
Het |
Scrt1 |
T |
A |
15: 76,405,868 (GRCm39) |
D13V |
possibly damaging |
Het |
Slc1a7 |
T |
A |
4: 107,834,871 (GRCm39) |
V79E |
possibly damaging |
Het |
Snurf |
T |
C |
7: 59,645,270 (GRCm39) |
Q48R |
probably benign |
Het |
Srek1 |
T |
C |
13: 103,894,695 (GRCm39) |
|
probably benign |
Het |
Stxbp5l |
T |
C |
16: 37,076,246 (GRCm39) |
S267G |
probably damaging |
Het |
Taf5 |
C |
T |
19: 47,063,409 (GRCm39) |
R320W |
probably damaging |
Het |
Tars2 |
A |
T |
3: 95,660,403 (GRCm39) |
N106K |
probably damaging |
Het |
Tatdn3 |
A |
T |
1: 190,781,531 (GRCm39) |
L207Q |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,938,501 (GRCm39) |
E849G |
probably damaging |
Het |
Tedc2 |
T |
C |
17: 24,438,985 (GRCm39) |
T111A |
probably benign |
Het |
Tfg |
T |
A |
16: 56,514,854 (GRCm39) |
|
probably null |
Het |
Tgds |
A |
T |
14: 118,353,643 (GRCm39) |
S225T |
probably benign |
Het |
Tnks2 |
T |
A |
19: 36,852,671 (GRCm39) |
Y134* |
probably null |
Het |
Trappc1 |
T |
A |
11: 69,216,356 (GRCm39) |
V134D |
probably damaging |
Het |
Ttc3 |
C |
A |
16: 94,243,620 (GRCm39) |
P853Q |
probably damaging |
Het |
Ttc7 |
C |
A |
17: 87,678,163 (GRCm39) |
|
probably benign |
Het |
Ttf1 |
A |
G |
2: 28,964,606 (GRCm39) |
S643G |
probably damaging |
Het |
Tubgcp3 |
A |
T |
8: 12,700,171 (GRCm39) |
S338T |
probably damaging |
Het |
Ugt1a6a |
T |
C |
1: 88,067,007 (GRCm39) |
I271T |
possibly damaging |
Het |
Vipas39 |
T |
A |
12: 87,288,075 (GRCm39) |
Y445F |
probably damaging |
Het |
Vmn1r31 |
A |
C |
6: 58,448,998 (GRCm39) |
I289S |
probably damaging |
Het |
Zfp112 |
A |
G |
7: 23,825,685 (GRCm39) |
E551G |
probably damaging |
Het |
Zfp397 |
T |
A |
18: 24,093,854 (GRCm39) |
Y446* |
probably null |
Het |
Zfp442 |
A |
T |
2: 150,251,526 (GRCm39) |
H124Q |
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 |
|
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 |
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'- AGTCATGATTGCGCTGGAG -3'
(R):5'- ATCATGCTGGGACAATGCTTTG -3'
Sequencing Primer
(F):5'- TGGAGTGGAAGCCCGATC -3'
(R):5'- CCCACCTCAAGTACAACTTT -3'
|
Posted On |
2015-10-08 |