Incidental Mutation 'R0689:Itch'
| ID |
218711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
| MMRRC Submission |
038874-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0689 (G1)
|
| Quality Score |
56 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155024098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 234
(S234T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029126]
[ENSMUST00000109685]
|
| AlphaFold |
Q8C863 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029126
AA Change: S234T
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: S234T
| 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 |
possibly damaging
Transcript: ENSMUST00000109685
AA Change: S234T
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: S234T
| 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: ENSMUST00000142147
|
| Meta Mutation Damage Score |
0.0585 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.1%
|
| Validation Efficiency |
99% (80/81) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
C |
A |
7: 28,596,474 (GRCm39) |
G674W |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,130,668 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,623,224 (GRCm39) |
V3800I |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,587,277 (GRCm39) |
Y93H |
probably damaging |
Het |
| Aldh1a3 |
T |
A |
7: 66,051,753 (GRCm39) |
D400V |
probably benign |
Het |
| Bpifc |
A |
G |
10: 85,796,411 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
G |
T |
4: 100,832,073 (GRCm39) |
R745L |
probably damaging |
Het |
| Cadm3 |
T |
A |
1: 173,172,019 (GRCm39) |
T185S |
possibly damaging |
Het |
| Cep85l |
G |
T |
10: 53,224,943 (GRCm39) |
D215E |
probably damaging |
Het |
| Ces1g |
A |
G |
8: 94,055,035 (GRCm39) |
S221P |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,722,668 (GRCm39) |
V138M |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,619,421 (GRCm39) |
F1714I |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,749,812 (GRCm39) |
L279P |
probably benign |
Het |
| Dnah7a |
G |
A |
1: 53,659,840 (GRCm39) |
Q723* |
probably null |
Het |
| Dnaja2 |
A |
G |
8: 86,273,347 (GRCm39) |
|
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,468,450 (GRCm39) |
V162A |
possibly damaging |
Het |
| Dok4 |
T |
C |
8: 95,597,547 (GRCm39) |
T3A |
probably benign |
Het |
| Efcab7 |
T |
C |
4: 99,761,981 (GRCm39) |
W424R |
probably damaging |
Het |
| Fah |
A |
T |
7: 84,242,392 (GRCm39) |
|
probably null |
Het |
| Fam120a |
T |
C |
13: 49,121,114 (GRCm39) |
D64G |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gas8 |
T |
G |
8: 124,250,845 (GRCm39) |
L106R |
probably damaging |
Het |
| Gykl1 |
T |
G |
18: 52,827,123 (GRCm39) |
N110K |
possibly damaging |
Het |
| Hsd3b3 |
G |
T |
3: 98,649,295 (GRCm39) |
L343I |
possibly damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,065,259 (GRCm39) |
I61F |
possibly damaging |
Het |
| Klf6 |
T |
A |
13: 5,915,115 (GRCm39) |
S185T |
probably damaging |
Het |
| Klk1b1 |
A |
C |
7: 43,620,143 (GRCm39) |
K202T |
probably benign |
Het |
| Liph |
T |
C |
16: 21,786,818 (GRCm39) |
Y268C |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,783,400 (GRCm39) |
D574N |
probably damaging |
Het |
| Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
| Nipbl |
A |
G |
15: 8,322,562 (GRCm39) |
|
probably null |
Het |
| Olfm3 |
T |
A |
3: 114,916,194 (GRCm39) |
N355K |
probably benign |
Het |
| Or4k15c |
A |
T |
14: 50,321,689 (GRCm39) |
F150I |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,370 (GRCm39) |
T500A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,764,033 (GRCm39) |
I4169V |
unknown |
Het |
| Pde4d |
T |
C |
13: 109,877,078 (GRCm39) |
S144P |
possibly damaging |
Het |
| Pgghg |
T |
C |
7: 140,523,191 (GRCm39) |
Y157H |
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pla2g12a |
T |
C |
3: 129,674,947 (GRCm39) |
|
probably null |
Het |
| Ppp1r14d |
T |
C |
2: 119,060,093 (GRCm39) |
D63G |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Sgip1 |
A |
T |
4: 102,823,449 (GRCm39) |
D690V |
probably damaging |
Het |
| Skp1 |
T |
C |
11: 52,134,592 (GRCm39) |
|
probably benign |
Het |
| Slc25a12 |
T |
C |
2: 71,141,837 (GRCm39) |
Y272C |
possibly damaging |
Het |
| Slc37a2 |
A |
G |
9: 37,146,846 (GRCm39) |
|
probably benign |
Het |
| Snx6 |
A |
T |
12: 54,810,441 (GRCm39) |
S112T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,085,786 (GRCm39) |
V685A |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,926,461 (GRCm39) |
V163E |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,711,253 (GRCm39) |
|
probably benign |
Het |
| Tmem30c |
A |
G |
16: 57,090,536 (GRCm39) |
Y224H |
probably damaging |
Het |
| Tmem45b |
T |
C |
9: 31,339,879 (GRCm39) |
N173D |
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,729,837 (GRCm39) |
T405A |
probably benign |
Het |
| Trerf1 |
C |
T |
17: 47,630,300 (GRCm39) |
|
noncoding transcript |
Het |
| Triobp |
A |
T |
15: 78,844,188 (GRCm39) |
K135* |
probably null |
Het |
| Ttll9 |
T |
A |
2: 152,825,047 (GRCm39) |
D75E |
probably benign |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,609 (GRCm39) |
I8V |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,872 (GRCm39) |
I733F |
probably damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,300,782 (GRCm39) |
S595P |
possibly damaging |
Het |
| Zcchc2 |
C |
T |
1: 105,958,234 (GRCm39) |
Q504* |
probably null |
Het |
| Zfp2 |
T |
C |
11: 50,791,734 (GRCm39) |
D103G |
probably benign |
Het |
| Zfp59 |
A |
G |
7: 27,553,142 (GRCm39) |
K198R |
probably benign |
Het |
| Zfp64 |
C |
A |
2: 168,777,121 (GRCm39) |
|
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 |
|
|
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'- TTATACACAAGGTCCTTGCACCACG -3'
(R):5'- GGGGAGCTTGGCTTACAGTATTCAG -3'
Sequencing Primer
(F):5'- GGTCCTTGCACCACGAAAATC -3'
(R):5'- CCCGAGCCTCCAGATATAGTAAGA -3'
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| Posted On |
2014-08-20 |
Incidental Mutation