Incidental Mutation 'IGL01844:Itch'
ID 178147
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 # IGL01844
Quality Score
Status
Chromosome 2
Chromosomal Location 154975429-155068775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155014467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 101 (D101E)
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: D101E

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: D101E

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 possibly damaging
Transcript: ENSMUST00000109685
AA Change: D101E

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: D101E

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A G 17: 84,989,453 (GRCm39) I85T probably damaging Het
Amer2 A G 14: 60,617,356 (GRCm39) D391G possibly damaging Het
Atp13a3 A T 16: 30,180,781 (GRCm39) C83S probably benign Het
Bdh2 A T 3: 134,994,080 (GRCm39) Q54L probably benign Het
Cep128 A G 12: 90,975,628 (GRCm39) S1051P probably benign Het
Dop1a A G 9: 86,396,138 (GRCm39) T865A probably damaging Het
Epha8 C A 4: 136,658,360 (GRCm39) *1005L probably null Het
Etl4 T C 2: 20,811,493 (GRCm39) V1509A probably benign Het
Gucy1b1 T C 3: 81,953,833 (GRCm39) E161G possibly damaging Het
Hepacam T A 9: 37,291,912 (GRCm39) V80E probably damaging Het
Ireb2 A G 9: 54,772,641 (GRCm39) K24E probably benign Het
Kctd16 A G 18: 40,390,373 (GRCm39) I115M probably damaging Het
Klf7 C A 1: 64,117,933 (GRCm39) Q221H probably benign Het
Kptn A G 7: 15,857,897 (GRCm39) T242A probably benign Het
Macf1 A G 4: 123,334,485 (GRCm39) F4420S probably benign Het
Mthfd2 A G 6: 83,288,792 (GRCm39) probably null Het
Mtrf1l A C 10: 5,764,112 (GRCm39) L284V probably null Het
Neb C T 2: 52,060,561 (GRCm39) V2259I probably benign Het
Or4c111 A T 2: 88,843,814 (GRCm39) V198E possibly damaging Het
Or9i14 A T 19: 13,792,180 (GRCm39) M258K possibly damaging Het
Padi1 A T 4: 140,556,746 (GRCm39) C154S probably damaging Het
Paxip1 T C 5: 27,956,036 (GRCm39) T903A probably benign Het
Phactr2 T A 10: 13,129,181 (GRCm39) L292F probably benign Het
Pkhd1l1 G A 15: 44,362,796 (GRCm39) probably benign Het
Pnpla7 T C 2: 24,940,985 (GRCm39) probably null Het
Rif1 T A 2: 52,002,555 (GRCm39) I2003K probably benign Het
Rxfp3 A T 15: 11,037,132 (GRCm39) V80E probably damaging Het
Sart3 T A 5: 113,883,709 (GRCm39) K768* probably null Het
Slc35f5 C T 1: 125,517,612 (GRCm39) T470I probably damaging Het
Smg8 A T 11: 86,971,102 (GRCm39) Y890N probably damaging Het
Spata31 T C 13: 65,068,968 (GRCm39) V372A possibly damaging Het
Tbc1d30 A T 10: 121,103,084 (GRCm39) D649E probably benign Het
Tctn3 G A 19: 40,600,581 (GRCm39) T3I probably damaging Het
Tns3 G A 11: 8,387,177 (GRCm39) P1337S possibly damaging Het
Vmn2r15 T A 5: 109,434,135 (GRCm39) *856C probably null Het
Vmn2r61 A T 7: 41,909,639 (GRCm39) I55F probably benign Het
Zbtb41 C T 1: 139,375,065 (GRCm39) P842S probably benign Het
Zc3h13 A G 14: 75,581,209 (GRCm39) probably benign 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
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
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 2014-05-07