Incidental Mutation 'R1769:Itch'
| ID |
194665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
| MMRRC Submission |
039800-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155014481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 106
(L106S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029126]
[ENSMUST00000109685]
|
| AlphaFold |
Q8C863 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029126
AA Change: L106S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: L106S
| 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 damaging
Transcript: ENSMUST00000109685
AA Change: L106S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: L106S
| 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 |
0.9122 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (91/91) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,644,519 (GRCm39) |
I135V |
probably benign |
Het |
| Abca1 |
T |
A |
4: 53,074,325 (GRCm39) |
K1119N |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,573,194 (GRCm39) |
|
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,809 (GRCm39) |
E476G |
possibly damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,968,740 (GRCm39) |
F271S |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,576,586 (GRCm39) |
V847A |
probably damaging |
Het |
| Best3 |
A |
G |
10: 116,859,883 (GRCm39) |
N381S |
probably benign |
Het |
| Blm |
A |
T |
7: 80,163,118 (GRCm39) |
S78T |
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,907,520 (GRCm39) |
L871Q |
probably damaging |
Het |
| Car13 |
T |
A |
3: 14,715,795 (GRCm39) |
H104Q |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,029,568 (GRCm39) |
M165V |
probably benign |
Het |
| Cd4 |
A |
T |
6: 124,843,618 (GRCm39) |
M431K |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 109,980,606 (GRCm39) |
T178I |
probably damaging |
Het |
| Ceacam3 |
C |
T |
7: 16,892,301 (GRCm39) |
T348I |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,740,125 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
A |
T |
4: 148,098,758 (GRCm39) |
|
probably null |
Het |
| Csf3 |
A |
G |
11: 98,593,246 (GRCm39) |
Y121C |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,567,505 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,864,815 (GRCm39) |
I221T |
probably benign |
Het |
| Dgcr2 |
T |
C |
16: 17,675,115 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,401,250 (GRCm39) |
F474S |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,032,839 (GRCm39) |
I399V |
probably null |
Het |
| Efcab14 |
T |
A |
4: 115,610,188 (GRCm39) |
L183Q |
probably damaging |
Het |
| Evx2 |
A |
G |
2: 74,489,501 (GRCm39) |
V88A |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,285,109 (GRCm39) |
N730S |
probably benign |
Het |
| Farsb |
T |
A |
1: 78,443,620 (GRCm39) |
K196I |
probably benign |
Het |
| Fbln7 |
C |
T |
2: 128,735,682 (GRCm39) |
|
probably benign |
Het |
| Fhdc1 |
A |
G |
3: 84,356,085 (GRCm39) |
F453S |
probably damaging |
Het |
| Gast |
T |
A |
11: 100,227,684 (GRCm39) |
W89R |
probably damaging |
Het |
| Gata2 |
A |
G |
6: 88,182,237 (GRCm39) |
S402G |
probably benign |
Het |
| Gin1 |
T |
A |
1: 97,720,162 (GRCm39) |
S386T |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,736,363 (GRCm39) |
E1870G |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,954,768 (GRCm39) |
V1028E |
possibly damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
| Ifi209 |
G |
A |
1: 173,468,728 (GRCm39) |
S186N |
probably benign |
Het |
| Ifih1 |
C |
T |
2: 62,436,738 (GRCm39) |
A562T |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,146,050 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,199,234 (GRCm39) |
S141G |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klra3 |
T |
C |
6: 130,307,226 (GRCm39) |
|
probably null |
Het |
| Lama2 |
G |
C |
10: 27,084,403 (GRCm39) |
F922L |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,084,402 (GRCm39) |
S923T |
probably damaging |
Het |
| Llgl1 |
G |
A |
11: 60,597,873 (GRCm39) |
V331M |
probably damaging |
Het |
| Lrrc30 |
T |
C |
17: 67,938,676 (GRCm39) |
*301W |
probably null |
Het |
| Map1lc3b |
C |
T |
8: 122,320,226 (GRCm39) |
|
probably benign |
Het |
| Mbd2 |
A |
G |
18: 70,749,690 (GRCm39) |
I302V |
probably benign |
Het |
| Med27 |
A |
G |
2: 29,390,307 (GRCm39) |
Y78C |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,996,771 (GRCm39) |
|
probably null |
Het |
| Mideas |
G |
A |
12: 84,205,124 (GRCm39) |
|
probably benign |
Het |
| Miga1 |
T |
C |
3: 151,993,191 (GRCm39) |
E346G |
probably damaging |
Het |
| Myef2 |
A |
G |
2: 124,957,363 (GRCm39) |
S131P |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,069,527 (GRCm39) |
H899R |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,456,556 (GRCm39) |
|
probably benign |
Het |
| Ngf |
T |
A |
3: 102,427,513 (GRCm39) |
N87K |
possibly damaging |
Het |
| Nol10 |
T |
A |
12: 17,466,709 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,385,231 (GRCm39) |
I221V |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,182,366 (GRCm39) |
G777D |
probably damaging |
Het |
| Or5ac17 |
A |
G |
16: 59,036,344 (GRCm39) |
F211L |
probably benign |
Het |
| Or5b96 |
A |
G |
19: 12,867,047 (GRCm39) |
V298A |
probably damaging |
Het |
| Or6c1 |
T |
A |
10: 129,518,081 (GRCm39) |
T176S |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,682 (GRCm39) |
Q283L |
probably damaging |
Het |
| Or8d6 |
G |
T |
9: 39,854,251 (GRCm39) |
D232Y |
probably benign |
Het |
| Oxt |
A |
T |
2: 130,418,220 (GRCm39) |
R31W |
probably damaging |
Het |
| Pde4dip |
A |
G |
3: 97,603,246 (GRCm39) |
S2248P |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,859,460 (GRCm39) |
V16A |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,080,561 (GRCm39) |
S616P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,540 (GRCm39) |
Y379C |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,104,159 (GRCm39) |
N540D |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,220,746 (GRCm39) |
H255Y |
possibly damaging |
Het |
| Rad21 |
T |
C |
15: 51,835,703 (GRCm39) |
N237D |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,582,113 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
C |
A |
10: 21,873,007 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
G |
T |
7: 16,531,464 (GRCm39) |
A490S |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,755,326 (GRCm39) |
Y478H |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,755,328 (GRCm39) |
Y478* |
probably null |
Het |
| Slc9a3 |
A |
T |
13: 74,311,190 (GRCm39) |
M562L |
probably benign |
Het |
| Spmip4 |
A |
G |
6: 50,568,801 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,555,714 (GRCm39) |
R57* |
probably null |
Het |
| Tiam1 |
T |
C |
16: 89,657,167 (GRCm39) |
R690G |
probably damaging |
Het |
| Tmem150b |
A |
G |
7: 4,727,365 (GRCm39) |
S47P |
probably damaging |
Het |
| Trim39 |
C |
T |
17: 36,574,832 (GRCm39) |
R190Q |
probably damaging |
Het |
| Ttc32 |
A |
T |
12: 9,085,073 (GRCm39) |
I98L |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,873,003 (GRCm39) |
T3304A |
probably benign |
Het |
| Wdr35 |
A |
C |
12: 9,062,728 (GRCm39) |
D638A |
probably damaging |
Het |
| Wwc1 |
G |
T |
11: 35,752,671 (GRCm39) |
P797T |
probably benign |
Het |
| Zan |
T |
A |
5: 137,462,780 (GRCm39) |
T800S |
unknown |
Het |
| Zbbx |
A |
G |
3: 74,990,926 (GRCm39) |
|
probably benign |
Het |
| Zup1 |
T |
C |
10: 33,811,172 (GRCm39) |
M291V |
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 |
|
|
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'- GGTTGAATAGTAAACTTTAGGACGCGCA -3'
(R):5'- tctctccagcaccCTATGCCTTT -3'
Sequencing Primer
(F):5'- gccagcctctaatactgatgac -3'
(R):5'- tctatctgcctctgcttccc -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation