Incidental Mutation 'IGL02869:Itch'
ID 362513
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 # IGL02869
Quality Score
Status
Chromosome 2
Chromosomal Location 154975429-155068775 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) G to T at 155015853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029126] [ENSMUST00000029126] [ENSMUST00000029126] [ENSMUST00000109685] [ENSMUST00000109685] [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: 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: 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 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 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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,685,323 (GRCm39) S1142T possibly damaging Het
Aadacl4fm5 T C 4: 144,512,938 (GRCm39) I54V probably benign Het
Actr3b T G 5: 26,037,433 (GRCm39) V215G probably damaging Het
Adam9 C T 8: 25,460,634 (GRCm39) V617M probably damaging Het
Adgrl2 G T 3: 148,596,241 (GRCm39) P32T probably damaging Het
Afg2a G T 3: 37,518,694 (GRCm39) G743W probably damaging Het
Ago3 A T 4: 126,261,580 (GRCm39) probably benign Het
Allc A C 12: 28,623,206 (GRCm39) I20M probably benign Het
Asic3 G A 5: 24,621,972 (GRCm39) W361* probably null Het
Atf7ip A G 6: 136,583,577 (GRCm39) K1203E probably damaging Het
Babam2 C A 5: 32,162,116 (GRCm39) H272Q possibly damaging Het
Baz2b G A 2: 59,807,872 (GRCm39) T129I probably benign Het
C130073F10Rik A T 4: 101,747,590 (GRCm39) Y146* probably null Het
Cd247 A G 1: 165,684,986 (GRCm39) E74G probably damaging Het
Cdh17 A T 4: 11,814,908 (GRCm39) Q778L probably benign Het
Ceacam1 T C 7: 25,175,966 (GRCm39) D76G probably benign Het
Cela3a T C 4: 137,131,145 (GRCm39) K198E probably benign Het
Cemip2 T A 19: 21,789,241 (GRCm39) D558E probably damaging Het
Ces2a T A 8: 105,465,691 (GRCm39) D281E probably damaging Het
Cetn2 A T X: 71,958,527 (GRCm39) D116E probably damaging Het
Cracd A G 5: 77,006,890 (GRCm39) K1084E unknown Het
Ctu2 G T 8: 123,205,530 (GRCm39) probably null Het
Cybb T C X: 9,308,828 (GRCm39) N469D probably benign Het
Cygb C T 11: 116,540,749 (GRCm39) R79Q probably damaging Het
Cyp2d10 C T 15: 82,288,069 (GRCm39) V186M possibly damaging Het
Defb29 T A 2: 152,380,942 (GRCm39) probably null Het
Depdc7 T G 2: 104,560,694 (GRCm39) Q100P probably damaging Het
Dhx30 A C 9: 109,926,251 (GRCm39) I91R probably damaging Het
Dnm1l T A 16: 16,159,288 (GRCm39) K105* probably null Het
Eddm13 T C 7: 6,272,898 (GRCm39) probably benign Het
Efhc1 T C 1: 21,037,567 (GRCm39) I248T probably damaging Het
Elapor1 A G 3: 108,380,182 (GRCm39) I309T probably benign Het
Entpd2 A G 2: 25,288,120 (GRCm39) T115A probably damaging Het
Epb42 G T 2: 120,856,227 (GRCm39) A439E probably benign Het
Esm1 T G 13: 113,346,618 (GRCm39) L81R probably damaging Het
F8 T C X: 74,330,987 (GRCm39) S968G probably benign Het
Fam234b T G 6: 135,202,201 (GRCm39) Y308D probably damaging Het
Fbxo46 T G 7: 18,871,139 (GRCm39) V586G probably damaging Het
Foxp1 C A 6: 98,907,044 (GRCm39) probably benign Het
Gm10754 A T 10: 97,518,136 (GRCm39) probably benign Het
Gm12695 A C 4: 96,650,370 (GRCm39) probably benign Het
Gm5468 T C 15: 25,414,726 (GRCm39) probably benign Het
Grhl1 T C 12: 24,631,490 (GRCm39) S66P probably damaging Het
Gstt3 A T 10: 75,612,576 (GRCm39) probably null Het
Gtf2i A G 5: 134,308,281 (GRCm39) probably benign Het
Gzmk C A 13: 113,308,560 (GRCm39) G175C probably damaging Het
Helz2 T C 2: 180,872,939 (GRCm39) probably benign Het
Ift20 T C 11: 78,430,780 (GRCm39) probably benign Het
Intu A G 3: 40,642,216 (GRCm39) D491G probably damaging Het
Itgb5 A G 16: 33,665,362 (GRCm39) N26S possibly damaging Het
Lama2 A T 10: 26,891,534 (GRCm39) S2526R probably damaging Het
Lat2 A G 5: 134,637,027 (GRCm39) I40T probably damaging Het
Lipa T A 19: 34,471,397 (GRCm39) M393L probably benign Het
Lipa G T 19: 34,471,371 (GRCm39) probably benign Het
Lpcat1 T A 13: 73,632,417 (GRCm39) L10H probably damaging Het
Lpcat3 T C 6: 124,679,970 (GRCm39) Y348H possibly damaging Het
Lrp1b A T 2: 40,591,842 (GRCm39) N50K unknown Het
Lrrk2 T A 15: 91,634,480 (GRCm39) Y1415N probably damaging Het
Lsamp A T 16: 41,965,078 (GRCm39) T312S probably benign Het
Man2a2 T C 7: 80,013,689 (GRCm39) E454G probably benign Het
Mcm3 T C 1: 20,879,063 (GRCm39) K570R probably damaging Het
Mctp2 C A 7: 71,878,219 (GRCm39) probably null Het
Msantd2 T G 9: 37,434,796 (GRCm39) C345W probably damaging Het
Musk T C 4: 58,354,078 (GRCm39) I362T probably benign Het
Myh15 A T 16: 48,965,767 (GRCm39) N1224I probably benign Het
Myo18a A G 11: 77,755,612 (GRCm39) Y1983C probably damaging Het
Myo18a C T 11: 77,720,699 (GRCm39) probably benign Het
Myrfl G T 10: 116,664,909 (GRCm39) Q374K probably damaging Het
Ndrg1 T A 15: 66,818,346 (GRCm39) Q87H probably benign Het
Nol9 G A 4: 152,131,030 (GRCm39) C351Y probably damaging Het
Nr5a1 A G 2: 38,598,141 (GRCm39) S219P probably benign Het
Or8b43 T C 9: 38,360,489 (GRCm39) F107S possibly damaging Het
Or8g28 A T 9: 39,169,520 (GRCm39) Y149* probably null Het
Pcdhb19 A G 18: 37,631,690 (GRCm39) D495G probably damaging Het
Pfkm A G 15: 98,026,123 (GRCm39) M573V probably damaging Het
Plec A T 15: 76,065,516 (GRCm39) L1586Q probably damaging Het
Prelp C A 1: 133,843,005 (GRCm39) E47* probably null Het
Rbm33 T A 5: 28,615,753 (GRCm39) I32N probably damaging Het
Rgs12 A T 5: 35,183,227 (GRCm39) D310V probably damaging Het
Ripor2 A C 13: 24,880,512 (GRCm39) H404P possibly damaging Het
Sh3d21 T C 4: 126,056,034 (GRCm39) E124G probably benign Het
Shroom2 C T X: 151,442,549 (GRCm39) S872N probably benign Het
Slc44a5 A G 3: 153,956,651 (GRCm39) Y301C probably damaging Het
Smap1 A T 1: 23,930,995 (GRCm39) H66Q possibly damaging Het
Smyd1 G T 6: 71,198,007 (GRCm39) probably benign Het
Sptbn4 T A 7: 27,093,573 (GRCm39) probably benign Het
Srsf3-ps T A 11: 98,516,146 (GRCm39) R76* probably null Het
Stag3 A G 5: 138,280,955 (GRCm39) K49R probably damaging Het
Stim1 C A 7: 101,917,758 (GRCm39) A46E unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tbc1d19 A G 5: 53,992,559 (GRCm39) T114A probably benign Het
Tln2 G A 9: 67,128,807 (GRCm39) probably benign Het
Trmt10a T A 3: 137,857,945 (GRCm39) probably null Het
Vwde G A 6: 13,187,136 (GRCm39) H784Y probably damaging Het
Zfp773 T C 7: 7,137,232 (GRCm39) T121A 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
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
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 2015-12-18