Incidental Mutation 'R7974:Itch'
| ID |
650759 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itch
|
| Ensembl Gene |
ENSMUSG00000027598 |
| Gene Name |
itchy, E3 ubiquitin protein ligase |
| Synonyms |
6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4 |
| MMRRC Submission |
046017-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7974 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154975429-155068775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155034079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 417
(F417S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029126]
[ENSMUST00000109685]
|
| AlphaFold |
Q8C863 |
| PDB Structure |
Itch E3 ubiquitin ligase WW3 domain [SOLUTION NMR]
Mouse Itch 3rd WW domain complex with the Epstein-Barr virus latent membrane protein 2A derived peptide EEPPPPYED [SOLUTION NMR]
Mouse Itch 3rd domain phosphorylated in T30 [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029126
AA Change: F417S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: F417S
| 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: F417S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: F417S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (64/64) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,033,405 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
A |
T |
18: 59,144,094 (GRCm39) |
Q892L |
possibly damaging |
Het |
| Adamts9 |
A |
G |
6: 92,886,668 (GRCm39) |
|
probably null |
Het |
| Aftph |
T |
C |
11: 20,648,233 (GRCm39) |
*686W |
probably null |
Het |
| AI661453 |
T |
C |
17: 47,777,006 (GRCm39) |
L244P |
unknown |
Het |
| Ankar |
C |
A |
1: 72,738,138 (GRCm39) |
E15* |
probably null |
Het |
| Ankrd39 |
A |
G |
1: 36,585,999 (GRCm39) |
|
probably benign |
Het |
| Arsi |
A |
G |
18: 61,045,478 (GRCm39) |
D56G |
probably damaging |
Het |
| Blmh |
T |
C |
11: 76,856,729 (GRCm39) |
I245T |
possibly damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,056 (GRCm39) |
F87S |
probably damaging |
Het |
| Cdc42ep2 |
T |
C |
19: 5,968,523 (GRCm39) |
K61E |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,915,231 (GRCm39) |
G914D |
probably damaging |
Het |
| Cep126 |
T |
A |
9: 8,120,764 (GRCm39) |
K86N |
probably benign |
Het |
| Cfap70 |
A |
T |
14: 20,470,818 (GRCm39) |
F532I |
probably damaging |
Het |
| Cpsf3 |
T |
A |
12: 21,358,006 (GRCm39) |
L506Q |
probably damaging |
Het |
| Dct |
A |
C |
14: 118,277,067 (GRCm39) |
I273S |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,788,229 (GRCm39) |
I769V |
probably benign |
Het |
| Dus2 |
G |
A |
8: 106,762,652 (GRCm39) |
E138K |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,279,425 (GRCm39) |
S305P |
possibly damaging |
Het |
| Erp27 |
A |
T |
6: 136,885,063 (GRCm39) |
V245D |
probably damaging |
Het |
| Fez1 |
C |
A |
9: 36,755,244 (GRCm39) |
T81K |
probably damaging |
Het |
| Gli3 |
A |
C |
13: 15,900,841 (GRCm39) |
Q1409H |
probably benign |
Het |
| Hdac9 |
T |
C |
12: 34,353,219 (GRCm39) |
S664G |
possibly damaging |
Het |
| Hibadh |
A |
G |
6: 52,534,880 (GRCm39) |
S167P |
probably benign |
Het |
| Hsdl1 |
A |
G |
8: 120,293,072 (GRCm39) |
V121A |
probably benign |
Het |
| Ift70a1 |
T |
C |
2: 75,810,688 (GRCm39) |
H465R |
probably damaging |
Het |
| Ighv1-18 |
A |
C |
12: 114,646,669 (GRCm39) |
I6S |
possibly damaging |
Het |
| Iqcm |
T |
A |
8: 76,281,520 (GRCm39) |
M1K |
probably null |
Het |
| Itpr1 |
C |
T |
6: 108,500,366 (GRCm39) |
T2653I |
possibly damaging |
Het |
| Kank1 |
T |
G |
19: 25,401,584 (GRCm39) |
Y1064D |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,505,561 (GRCm39) |
Q3249R |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,385 (GRCm39) |
C318R |
probably damaging |
Het |
| Lmbr1l |
C |
T |
15: 98,809,500 (GRCm39) |
V147I |
probably benign |
Het |
| Meig1 |
C |
A |
2: 3,412,911 (GRCm39) |
E37* |
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,899,180 (GRCm39) |
|
probably null |
Het |
| Muc17 |
T |
C |
5: 137,175,664 (GRCm39) |
N2S |
|
Het |
| Mup7 |
T |
C |
4: 60,067,518 (GRCm39) |
E199G |
possibly damaging |
Het |
| Nol4 |
G |
C |
18: 22,852,082 (GRCm39) |
Y275* |
probably null |
Het |
| Nrxn1 |
G |
A |
17: 91,008,207 (GRCm39) |
P429S |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,672 (GRCm39) |
Y81C |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,829,996 (GRCm39) |
F367L |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,254,031 (GRCm39) |
E652G |
probably benign |
Het |
| Prkag3 |
A |
G |
1: 74,783,980 (GRCm39) |
I301T |
probably benign |
Het |
| Rcn1 |
G |
A |
2: 105,224,055 (GRCm39) |
P163L |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc37a2 |
A |
T |
9: 37,150,421 (GRCm39) |
|
probably null |
Het |
| Slc9b1 |
C |
T |
3: 135,099,791 (GRCm39) |
T437I |
possibly damaging |
Het |
| Smap1 |
T |
G |
1: 23,888,522 (GRCm39) |
T248P |
probably benign |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata20 |
T |
C |
11: 94,374,966 (GRCm39) |
N212S |
possibly damaging |
Het |
| Sphkap |
A |
C |
1: 83,256,683 (GRCm39) |
C355W |
probably damaging |
Het |
| Spopfm2 |
T |
C |
3: 94,082,848 (GRCm39) |
K321R |
probably benign |
Het |
| Spsb1 |
T |
A |
4: 149,991,566 (GRCm39) |
M1L |
probably damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Stxbp5 |
A |
C |
10: 9,646,439 (GRCm39) |
|
probably null |
Het |
| Taar5 |
G |
C |
10: 23,847,120 (GRCm39) |
D173H |
possibly damaging |
Het |
| Tfrc |
A |
G |
16: 32,440,101 (GRCm39) |
D438G |
probably null |
Het |
| Tinag |
A |
T |
9: 76,907,131 (GRCm39) |
I368K |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,873,906 (GRCm39) |
W531R |
probably damaging |
Het |
| Tnc |
G |
T |
4: 63,918,961 (GRCm39) |
P1154Q |
possibly damaging |
Het |
| Toporsl |
A |
G |
4: 52,611,645 (GRCm39) |
R513G |
probably damaging |
Het |
| Vat1 |
A |
G |
11: 101,356,956 (GRCm39) |
S2P |
probably benign |
Het |
| Vmn2r107 |
C |
G |
17: 20,577,270 (GRCm39) |
P423A |
probably benign |
Het |
| Vmn2r2 |
T |
A |
3: 64,024,808 (GRCm39) |
E591V |
probably damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,437,281 (GRCm39) |
Y401F |
probably damaging |
Het |
| Vmn2r62 |
G |
A |
7: 42,414,031 (GRCm39) |
T804I |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,459 (GRCm39) |
I270F |
probably damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,167 (GRCm39) |
F377L |
possibly damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,144,502 (GRCm39) |
S182P |
unknown |
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 |
|
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 |
|
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'- GAGAGGCGTTTGCTCAAAAG -3'
(R):5'- TGAAACTCAAGCTCTTCATTACACG -3'
Sequencing Primer
(F):5'- CAAAAGCTAGAATACACTTTCATGTG -3'
(R):5'- GAGTCAAAAGGTACATAACCTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation