Incidental Mutation 'R2008:Itch'
| ID |
219163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
| MMRRC Submission |
040017-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2008 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155052379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 660
(C660S)
|
| 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: C660S
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: C660S
| 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: C660S
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: C660S
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
A |
4: 148,026,034 (GRCm39) |
C185S |
probably benign |
Het |
| Acsbg3 |
A |
G |
17: 57,193,478 (GRCm39) |
N608S |
probably benign |
Het |
| Actl6b |
T |
A |
5: 137,567,592 (GRCm39) |
S409T |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,080,074 (GRCm39) |
V50D |
probably benign |
Het |
| Adgrf2 |
T |
C |
17: 43,021,013 (GRCm39) |
T604A |
probably damaging |
Het |
| Adprs |
T |
A |
4: 126,211,137 (GRCm39) |
D260V |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,010,131 (GRCm39) |
E296G |
possibly damaging |
Het |
| Alg5 |
A |
G |
3: 54,653,894 (GRCm39) |
Y210C |
possibly damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,831 (GRCm39) |
W236R |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,909,271 (GRCm39) |
D1155G |
probably damaging |
Het |
| Atp2c1 |
T |
A |
9: 105,309,925 (GRCm39) |
T551S |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,517,996 (GRCm39) |
C281S |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,729,906 (GRCm39) |
C466Y |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,570,810 (GRCm39) |
|
probably null |
Het |
| Capn9 |
T |
G |
8: 125,318,424 (GRCm39) |
C97G |
probably damaging |
Het |
| Cbfa2t3 |
A |
G |
8: 123,370,032 (GRCm39) |
V147A |
probably damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,893,349 (GRCm39) |
Y136F |
probably damaging |
Het |
| Cdh6 |
C |
A |
15: 13,051,562 (GRCm39) |
R357L |
possibly damaging |
Het |
| Celf1 |
A |
T |
2: 90,840,753 (GRCm39) |
N367I |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,790,467 (GRCm39) |
I1363V |
probably benign |
Het |
| Cfap299 |
C |
T |
5: 98,885,561 (GRCm39) |
T156I |
possibly damaging |
Het |
| Colec12 |
T |
A |
18: 9,874,813 (GRCm39) |
D696E |
probably benign |
Het |
| Ctbp1 |
C |
T |
5: 33,408,330 (GRCm39) |
E138K |
probably damaging |
Het |
| Cyp4a10 |
T |
C |
4: 115,382,589 (GRCm39) |
I293T |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dctn1 |
C |
T |
6: 83,166,938 (GRCm39) |
T263I |
probably damaging |
Het |
| Ddx49 |
A |
T |
8: 70,748,094 (GRCm39) |
V317E |
probably damaging |
Het |
| Edil3 |
G |
A |
13: 89,093,072 (GRCm39) |
|
probably null |
Het |
| Egflam |
A |
T |
15: 7,267,285 (GRCm39) |
V700E |
possibly damaging |
Het |
| Fam168b |
A |
G |
1: 34,858,946 (GRCm39) |
|
probably null |
Het |
| Gigyf2 |
T |
G |
1: 87,301,835 (GRCm39) |
|
probably null |
Het |
| H1f2 |
C |
G |
13: 23,923,392 (GRCm39) |
S187R |
probably benign |
Het |
| Heatr4 |
A |
G |
12: 84,026,514 (GRCm39) |
S248P |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,594,524 (GRCm39) |
I260F |
possibly damaging |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,408 (GRCm39) |
L305Q |
probably damaging |
Het |
| Ivd |
A |
T |
2: 118,701,981 (GRCm39) |
I138F |
probably benign |
Het |
| Katnip |
C |
G |
7: 125,459,738 (GRCm39) |
H1189D |
probably damaging |
Het |
| Lcn4 |
G |
T |
2: 26,561,228 (GRCm39) |
Q18K |
possibly damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,843,146 (GRCm39) |
Y192H |
probably damaging |
Het |
| Mn1 |
T |
C |
5: 111,566,723 (GRCm39) |
L231P |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,386,009 (GRCm39) |
D544G |
probably benign |
Het |
| Mthfd1 |
C |
A |
12: 76,344,293 (GRCm39) |
T331K |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 113,021,423 (GRCm39) |
Y546F |
probably benign |
Het |
| Nod1 |
T |
C |
6: 54,916,310 (GRCm39) |
Y129C |
probably damaging |
Het |
| Nprl3 |
A |
G |
11: 32,182,973 (GRCm39) |
V563A |
probably damaging |
Het |
| Or13a18 |
T |
C |
7: 140,190,498 (GRCm39) |
Y140H |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,417 (GRCm39) |
C252S |
possibly damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,766 (GRCm39) |
N294S |
probably damaging |
Het |
| Or5p72 |
T |
C |
7: 108,022,389 (GRCm39) |
F204L |
probably benign |
Het |
| Or8b1b |
T |
C |
9: 38,375,537 (GRCm39) |
S67P |
probably damaging |
Het |
| Orc3 |
T |
A |
4: 34,611,049 (GRCm39) |
|
probably null |
Het |
| Otog |
T |
C |
7: 45,913,498 (GRCm39) |
V777A |
probably benign |
Het |
| Pbxip1 |
G |
T |
3: 89,356,020 (GRCm39) |
V711L |
probably benign |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,316 (GRCm39) |
D92G |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,783,096 (GRCm39) |
M964K |
probably damaging |
Het |
| Pitpnm2 |
T |
A |
5: 124,290,684 (GRCm39) |
M1L |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,269,683 (GRCm39) |
V3287A |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,882,844 (GRCm39) |
H1669Q |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,552,016 (GRCm39) |
S195P |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,517 (GRCm39) |
Y591C |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,651 (GRCm39) |
T268S |
possibly damaging |
Het |
| Scd2 |
A |
T |
19: 44,291,610 (GRCm39) |
T350S |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,518,091 (GRCm39) |
Q1040L |
possibly damaging |
Het |
| Sdhb |
T |
A |
4: 140,706,340 (GRCm39) |
L259Q |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,033,680 (GRCm39) |
H701R |
probably damaging |
Het |
| Slc41a2 |
C |
T |
10: 83,140,167 (GRCm39) |
|
probably null |
Het |
| Slx4 |
T |
C |
16: 3,797,785 (GRCm39) |
D1533G |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,713,271 (GRCm39) |
K367R |
possibly damaging |
Het |
| Sstr3 |
G |
A |
15: 78,424,711 (GRCm39) |
T12M |
probably benign |
Het |
| Synj2 |
G |
T |
17: 6,047,221 (GRCm39) |
E20D |
probably damaging |
Het |
| Tchh |
G |
T |
3: 93,353,281 (GRCm39) |
R907L |
unknown |
Het |
| Thsd1 |
A |
G |
8: 22,749,247 (GRCm39) |
E645G |
probably benign |
Het |
| Tmem176b |
A |
T |
6: 48,812,383 (GRCm39) |
M194K |
probably damaging |
Het |
| Tmprss11f |
T |
C |
5: 86,739,265 (GRCm39) |
|
probably null |
Het |
| Trim44 |
G |
A |
2: 102,230,722 (GRCm39) |
|
probably benign |
Het |
| Triml1 |
T |
A |
8: 43,583,642 (GRCm39) |
R320W |
probably damaging |
Het |
| Trmt6 |
A |
T |
2: 132,648,829 (GRCm39) |
C401* |
probably null |
Het |
| Trpv5 |
T |
C |
6: 41,636,662 (GRCm39) |
|
probably null |
Het |
| V1rd19 |
T |
A |
7: 23,702,726 (GRCm39) |
L64* |
probably null |
Het |
| Vmn1r216 |
A |
T |
13: 23,283,661 (GRCm39) |
R115W |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,509,924 (GRCm39) |
N551S |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,450,921 (GRCm39) |
V269A |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,881,813 (GRCm39) |
V1254D |
probably benign |
Het |
| Xpr1 |
T |
C |
1: 155,156,775 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
A |
5: 137,450,712 (GRCm39) |
T1622S |
unknown |
Het |
| Zfp112 |
T |
C |
7: 23,826,176 (GRCm39) |
Y715H |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,403,951 (GRCm39) |
P308L |
possibly 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 |
|
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'- GCATCCAAGGTCTTAAGTAGTAAC -3'
(R):5'- TGCTGTCAAAAGAAACGTTGTC -3'
Sequencing Primer
(F):5'- GGCTTATTGCTTAAACTCAGA -3'
(R):5'- AACTGAGCTCAAGTGTTCTGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation