Incidental Mutation 'R1855:Itch'
| ID |
206009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
| MMRRC Submission |
039879-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 155014374 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 benign
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 benign
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142147
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155360
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
| Validation Efficiency |
97% (72/74) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 11,818,195 (GRCm39) |
L285Q |
probably damaging |
Het |
| Acaca |
T |
C |
11: 84,262,380 (GRCm39) |
L1994P |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,878,350 (GRCm39) |
|
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,249,385 (GRCm39) |
E574G |
probably benign |
Het |
| Ankrd1 |
T |
C |
19: 36,096,635 (GRCm39) |
K64R |
probably damaging |
Het |
| Arhgap23 |
T |
C |
11: 97,339,523 (GRCm39) |
I163T |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,494,018 (GRCm39) |
Q151L |
probably benign |
Het |
| Atad2 |
G |
A |
15: 57,960,685 (GRCm39) |
P971L |
possibly damaging |
Het |
| C1s1 |
A |
C |
6: 124,511,315 (GRCm39) |
|
probably null |
Het |
| Ccdc150 |
T |
C |
1: 54,407,069 (GRCm39) |
|
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,110,351 (GRCm39) |
I311N |
probably damaging |
Het |
| Chad |
T |
A |
11: 94,456,303 (GRCm39) |
L127H |
probably damaging |
Het |
| Clasp1 |
G |
A |
1: 118,436,624 (GRCm39) |
A303T |
probably damaging |
Het |
| Clptm1 |
A |
G |
7: 19,372,134 (GRCm39) |
V234A |
probably benign |
Het |
| Cnih3 |
C |
A |
1: 181,282,186 (GRCm39) |
S140* |
probably null |
Het |
| Col24a1 |
G |
A |
3: 145,164,895 (GRCm39) |
G1033D |
probably damaging |
Het |
| Csnk1a1 |
T |
A |
18: 61,708,498 (GRCm39) |
|
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,378,412 (GRCm39) |
I1475L |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,411,815 (GRCm39) |
V3728A |
possibly damaging |
Het |
| Dock9 |
C |
A |
14: 121,877,571 (GRCm39) |
V391F |
probably damaging |
Het |
| Ehmt2 |
A |
T |
17: 35,129,752 (GRCm39) |
I949F |
probably damaging |
Het |
| Eif4g1 |
C |
A |
16: 20,505,911 (GRCm39) |
T1025K |
possibly damaging |
Het |
| Enpp2 |
C |
T |
15: 54,709,219 (GRCm39) |
E803K |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,943,295 (GRCm39) |
M423L |
probably damaging |
Het |
| Etnppl |
A |
T |
3: 130,414,371 (GRCm39) |
I89F |
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbln7 |
A |
G |
2: 128,735,755 (GRCm39) |
T248A |
possibly damaging |
Het |
| Galnt9 |
C |
T |
5: 110,763,390 (GRCm39) |
T465M |
probably damaging |
Het |
| Grcc10 |
A |
G |
6: 124,717,541 (GRCm39) |
V57A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,298,708 (GRCm39) |
M614K |
possibly damaging |
Het |
| Kdm6b |
C |
A |
11: 69,298,112 (GRCm39) |
A167S |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,106,590 (GRCm39) |
R1348C |
probably damaging |
Het |
| Kif17 |
T |
C |
4: 138,015,582 (GRCm39) |
L577P |
probably benign |
Het |
| Krt25 |
A |
T |
11: 99,209,141 (GRCm39) |
L258Q |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,281,218 (GRCm39) |
T356A |
probably benign |
Het |
| Mical2 |
G |
A |
7: 111,944,489 (GRCm39) |
A940T |
probably benign |
Het |
| Mrpl4 |
A |
G |
9: 20,914,667 (GRCm39) |
E81G |
possibly damaging |
Het |
| Mtcl1 |
A |
G |
17: 66,686,509 (GRCm39) |
V447A |
probably benign |
Het |
| Mtor |
C |
A |
4: 148,637,546 (GRCm39) |
N2502K |
probably benign |
Het |
| Notch4 |
G |
A |
17: 34,799,936 (GRCm39) |
D966N |
probably benign |
Het |
| Oip5 |
C |
A |
2: 119,442,271 (GRCm39) |
K214N |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,623,266 (GRCm39) |
F103Y |
possibly damaging |
Het |
| Pabir2 |
T |
A |
X: 52,342,933 (GRCm39) |
Q201H |
probably benign |
Het |
| Pak5 |
A |
T |
2: 135,929,429 (GRCm39) |
S585T |
probably benign |
Het |
| Pard3 |
T |
A |
8: 128,174,293 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,534,735 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,492,556 (GRCm39) |
Y939C |
possibly damaging |
Het |
| Pde1a |
A |
G |
2: 79,728,408 (GRCm39) |
|
probably null |
Het |
| Pde9a |
C |
T |
17: 31,674,094 (GRCm39) |
P60S |
probably damaging |
Het |
| Pikfyve |
C |
A |
1: 65,297,957 (GRCm39) |
T1562K |
probably benign |
Het |
| Plekhg6 |
A |
T |
6: 125,352,802 (GRCm39) |
M115K |
probably damaging |
Het |
| Pogz |
C |
T |
3: 94,786,160 (GRCm39) |
T863I |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,754,993 (GRCm39) |
W85R |
probably damaging |
Het |
| Rnf123 |
C |
A |
9: 107,938,990 (GRCm39) |
R826L |
probably damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,648,758 (GRCm39) |
V493E |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,805,699 (GRCm39) |
D150G |
probably damaging |
Het |
| Snap47 |
C |
T |
11: 59,319,159 (GRCm39) |
|
probably benign |
Het |
| Spata22 |
A |
G |
11: 73,231,385 (GRCm39) |
D213G |
probably benign |
Het |
| St6galnac2 |
T |
A |
11: 116,581,141 (GRCm39) |
R60S |
probably benign |
Het |
| Stk32c |
A |
G |
7: 138,701,363 (GRCm39) |
F263S |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,123,366 (GRCm39) |
I104V |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,437,702 (GRCm39) |
E158G |
possibly damaging |
Het |
| Tiam2 |
C |
T |
17: 3,465,410 (GRCm39) |
R380C |
probably damaging |
Het |
| Trim25 |
C |
T |
11: 88,906,407 (GRCm39) |
T410I |
probably benign |
Het |
| Usp18 |
T |
A |
6: 121,239,076 (GRCm39) |
C212S |
probably benign |
Het |
| Vmn1r2 |
A |
G |
4: 3,172,588 (GRCm39) |
Y169C |
probably damaging |
Het |
| Wdr33 |
A |
T |
18: 32,039,909 (GRCm39) |
|
probably benign |
Het |
| Xpr1 |
A |
G |
1: 155,159,002 (GRCm39) |
Y597H |
probably benign |
Het |
| Yy1 |
CGGG |
CGGGGGGGGG |
12: 108,759,916 (GRCm39) |
|
probably benign |
Het |
| Zfp54 |
T |
A |
17: 21,654,404 (GRCm39) |
Y299* |
probably null |
Het |
| Zfp566 |
T |
G |
7: 29,777,927 (GRCm39) |
S85R |
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 |
|
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'- AACTTTAGGACGCGCAGGGA -3'
(R):5'- TGAGTTGTTCCACATGTTTAACATA -3'
Sequencing Primer
(F):5'- GTTGAAGGTGCCAGCCTCTAATAC -3'
(R):5'- GCTATTCTTACATACGTACGT -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation