Incidental Mutation 'IGL02621:Itch'
ID 300876
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itch
Ensembl Gene ENSMUSG00000027598
Gene Name itchy, E3 ubiquitin protein ligase
Synonyms 6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02621
Quality Score
Status
Chromosome 2
Chromosomal Location 154975429-155068775 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to T at 155014504 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 null
Transcript: ENSMUST00000029126
SMART Domains Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000109685
SMART Domains Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik C A 12: 3,476,688 (GRCm39) probably benign Het
2210408I21Rik T C 13: 77,408,150 (GRCm39) I159T possibly damaging Het
Agpat3 T A 10: 78,120,900 (GRCm39) I93F probably damaging Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Atr G A 9: 95,790,453 (GRCm39) A1598T probably benign Het
Bltp1 T A 3: 37,095,633 (GRCm39) probably benign Het
Clk1 T C 1: 58,453,614 (GRCm39) D324G probably damaging Het
Cntnap4 A T 8: 113,537,355 (GRCm39) D742V probably damaging Het
Esrrb A G 12: 86,468,735 (GRCm39) N16S probably benign Het
Grm1 A T 10: 10,564,755 (GRCm39) Y1184* probably null Het
Hint1 G T 11: 54,761,011 (GRCm39) probably benign Het
Lmod3 T C 6: 97,215,796 (GRCm39) probably benign Het
Map3k4 C A 17: 12,482,900 (GRCm39) A606S probably damaging Het
Mapk4 A T 18: 74,103,346 (GRCm39) S54R probably damaging Het
Megf11 A G 9: 64,601,214 (GRCm39) D807G probably benign Het
Mgat5 A G 1: 127,325,326 (GRCm39) T398A possibly damaging Het
Nme8 T G 13: 19,859,818 (GRCm39) K28N probably damaging Het
Pamr1 A G 2: 102,464,688 (GRCm39) N279S probably benign Het
Pcca A T 14: 122,922,391 (GRCm39) D384V probably damaging Het
Prkag1 A T 15: 98,711,909 (GRCm39) I239N probably damaging Het
Psme4 A G 11: 30,798,131 (GRCm39) T1375A probably benign Het
Ptk2 A C 15: 73,077,994 (GRCm39) L1024R probably damaging Het
Rere G A 4: 150,698,269 (GRCm39) probably benign Het
Scn2a A G 2: 65,579,223 (GRCm39) probably benign Het
Sema5a T A 15: 32,538,802 (GRCm39) probably benign Het
Shoc1 A T 4: 59,062,668 (GRCm39) W863R probably damaging Het
Slc9a1 T A 4: 133,097,879 (GRCm39) W9R probably benign Het
Slco1a5 T A 6: 142,187,741 (GRCm39) M533L probably benign Het
Ttll4 T A 1: 74,726,643 (GRCm39) S720T probably damaging Het
Vmn1r168 A T 7: 23,240,780 (GRCm39) R212S probably damaging Het
Vmn2r114 T C 17: 23,529,494 (GRCm39) I203V probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Itch
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16