Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Itch'

362513

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itch

Ensembl Gene

ENSMUSG00000027598

Gene Name

itchy, E3 ubiquitin protein ligase

Synonyms

8030492O04Rik, C230047C07Rik, 6720481N21Rik, AIP4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

155133509-155226855 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to T at 155173933 bp (GRCm38)

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

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 null
Transcript: ENSMUST00000029126

SMART Domains

Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598

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 null
Transcript: ENSMUST00000029126

SMART Domains

Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598

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 null
Transcript: ENSMUST00000109685

SMART Domains

Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598

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 null
Transcript: ENSMUST00000109685

SMART Domains

Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598

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 null
Transcript: ENSMUST00000109685

SMART Domains

Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,867,459	S1142T	possibly damaging	Het
5330417C22Rik	A	G	3: 108,472,866	I309T	probably benign	Het
Actr3b	T	G	5: 25,832,435	V215G	probably damaging	Het
Adam9	C	T	8: 24,970,618	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,890,605	P32T	probably damaging	Het
Ago3	A	T	4: 126,367,787		probably benign	Het
Allc	A	C	12: 28,573,207	I20M	probably benign	Het
Asic3	G	A	5: 24,416,974	W361*	probably null	Het
Atf7ip	A	G	6: 136,606,579	K1203E	probably damaging	Het
Babam2	C	A	5: 32,004,772	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,977,528	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,890,393	Y146*	probably null	Het
C530008M17Rik	A	G	5: 76,859,043	K1084E	unknown	Het
Cd247	A	G	1: 165,857,417	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,476,541	D76G	probably benign	Het
Cela3a	T	C	4: 137,403,834	K198E	probably benign	Het
Ces2a	T	A	8: 104,739,059	D281E	probably damaging	Het
Cetn2	A	T	X: 72,914,921	D116E	probably damaging	Het
Ctu2	G	T	8: 122,478,791		probably null	Het
Cybb	T	C	X: 9,442,589	N469D	probably benign	Het
Cygb	C	T	11: 116,649,923	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,403,868	V186M	possibly damaging	Het
Defb29	T	A	2: 152,539,022		probably null	Het
Depdc7	T	G	2: 104,730,349	Q100P	probably damaging	Het
Dhx30	A	C	9: 110,097,183	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,341,424	K105*	probably null	Het
Efhc1	T	C	1: 20,967,343	I248T	probably damaging	Het
Entpd2	A	G	2: 25,398,108	T115A	probably damaging	Het
Epb42	G	T	2: 121,025,746	A439E	probably benign	Het
Epp13	T	C	7: 6,269,899		probably benign	Het
Esm1	T	G	13: 113,210,084	L81R	probably damaging	Het
F8	T	C	X: 75,287,381	S968G	probably benign	Het
Fam234b	T	G	6: 135,225,203	Y308D	probably damaging	Het
Fbxo46	T	G	7: 19,137,214	V586G	probably damaging	Het
Foxp1	C	A	6: 98,930,083		probably benign	Het
Gm10754	A	T	10: 97,682,274		probably benign	Het
Gm12355	T	A	11: 98,625,320	R76*	probably null	Het
Gm12695	A	C	4: 96,762,133		probably benign	Het
Gm438	T	C	4: 144,786,368	I54V	probably benign	Het
Gm5468	T	C	15: 25,414,640		probably benign	Het
Grhl1	T	C	12: 24,581,491	S66P	probably damaging	Het
Gstt3	A	T	10: 75,776,742		probably null	Het
Gtf2i	A	G	5: 134,279,427		probably benign	Het
Gzmk	C	A	13: 113,172,026	G175C	probably damaging	Het
Helz2	T	C	2: 181,231,146		probably benign	Het
Ift20	T	C	11: 78,539,954		probably benign	Het
Intu	A	G	3: 40,687,786	D491G	probably damaging	Het
Itgb5	A	G	16: 33,844,992	N26S	possibly damaging	Het
Lama2	A	T	10: 27,015,538	S2526R	probably damaging	Het
Lat2	A	G	5: 134,608,173	I40T	probably damaging	Het
Lipa	T	A	19: 34,493,997	M393L	probably benign	Het
Lipa	G	T	19: 34,493,971		probably benign	Het
Lpcat1	T	A	13: 73,484,298	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,703,007	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,701,830	N50K	unknown	Het
Lrrk2	T	A	15: 91,750,277	Y1415N	probably damaging	Het
Lsamp	A	T	16: 42,144,715	T312S	probably benign	Het
Man2a2	T	C	7: 80,363,941	E454G	probably benign	Het
Mcm3	T	C	1: 20,808,839	K570R	probably damaging	Het
Mctp2	C	A	7: 72,228,471		probably null	Het
Msantd2	T	G	9: 37,523,500	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078	I362T	probably benign	Het
Myh15	A	T	16: 49,145,404	N1224I	probably benign	Het
Myo18a	A	G	11: 77,864,786	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,829,873		probably benign	Het
Myrfl	G	T	10: 116,829,004	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,946,497	Q87H	probably benign	Het
Nol9	G	A	4: 152,046,573	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,708,129	S219P	probably benign	Het
Olfr902	T	C	9: 38,449,193	F107S	possibly damaging	Het
Olfr945	A	T	9: 39,258,224	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,498,637	D495G	probably damaging	Het
Pfkm	A	G	15: 98,128,242	M573V	probably damaging	Het
Plec	A	T	15: 76,181,316	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,915,267	E47*	probably null	Het
Rbm33	T	A	5: 28,410,755	I32N	probably damaging	Het
Rgs12	A	T	5: 35,025,883	D310V	probably damaging	Het
Ripor2	A	C	13: 24,696,529	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,162,241	E124G	probably benign	Het
Shroom2	C	T	X: 152,659,553	S872N	probably benign	Het
Slc44a5	A	G	3: 154,251,014	Y301C	probably damaging	Het
Smap1	A	T	1: 23,891,914	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,221,023		probably benign	Het
Spata5	G	T	3: 37,464,545	G743W	probably damaging	Het
Sptbn4	T	A	7: 27,394,148		probably benign	Het
Stag3	A	G	5: 138,282,693	K49R	probably damaging	Het
Stim1	C	A	7: 102,268,551	A46E	unknown	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,835,217	T114A	probably benign	Het
Tln2	G	A	9: 67,221,525		probably benign	Het
Tmem2	T	A	19: 21,811,877	D558E	probably damaging	Het
Trmt10a	T	A	3: 138,152,184		probably null	Het
Vwde	G	A	6: 13,187,137	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,134,233	T121A	probably benign	Het

Other mutations in Itch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Itch	APN	2	155213023	missense	probably damaging	1.00
IGL00796:Itch	APN	2	155209082	missense	probably damaging	0.97
IGL01090:Itch	APN	2	155206336	missense	probably damaging	0.99
IGL01568:Itch	APN	2	155212462	splice site	probably benign
IGL01844:Itch	APN	2	155172547	missense	possibly damaging	0.56
IGL01844:Itch	APN	2	155172486	missense	possibly damaging	0.94
IGL01873:Itch	APN	2	155168750	missense	possibly damaging	0.68
IGL02129:Itch	APN	2	155217988	splice site	probably benign
IGL02386:Itch	APN	2	155202261	nonsense	probably null
IGL02545:Itch	APN	2	155172586	splice site	probably null
IGL02621:Itch	APN	2	155172584	splice site	probably null
IGL02708:Itch	APN	2	155174044	missense	probably benign	0.00
Abrade	UTSW	2	155209078	missense	possibly damaging	0.93
dorsolateral	UTSW	2	155210558	nonsense	probably null
gadfly	UTSW	2	155182298	nonsense	probably null
hankerin	UTSW	2	155210582	critical splice donor site	probably null
irresistable	UTSW	2	155203297	missense	probably benign	0.34
prurient	UTSW	2	155210502	missense	probably damaging	1.00
scratch	UTSW	2	155172561	missense	probably damaging	0.99
R0116:Itch	UTSW	2	155217983	splice site	probably benign
R0207:Itch	UTSW	2	155202257	missense	probably benign
R0226:Itch	UTSW	2	155199394	missense	probably benign	0.01
R0545:Itch	UTSW	2	155182298	nonsense	probably null
R0689:Itch	UTSW	2	155182178	missense	possibly damaging	0.82
R1365:Itch	UTSW	2	155213031	missense	probably benign	0.00
R1406:Itch	UTSW	2	155206354	missense	possibly damaging	0.95
R1406:Itch	UTSW	2	155206354	missense	possibly damaging	0.95
R1436:Itch	UTSW	2	155192145	missense	probably damaging	0.96
R1639:Itch	UTSW	2	155179025	splice site	probably null
R1769:Itch	UTSW	2	155172561	missense	probably damaging	0.99
R1855:Itch	UTSW	2	155172454	splice site	probably benign
R1865:Itch	UTSW	2	155168746	missense	probably damaging	0.96
R2008:Itch	UTSW	2	155210459	missense	possibly damaging	0.91
R2054:Itch	UTSW	2	155210576	missense	probably damaging	1.00
R2196:Itch	UTSW	2	155202221	missense	probably benign
R2199:Itch	UTSW	2	155202221	missense	probably benign
R2252:Itch	UTSW	2	155212339	missense	probably benign	0.01
R2253:Itch	UTSW	2	155212339	missense	probably benign	0.01
R2348:Itch	UTSW	2	155209078	missense	possibly damaging	0.93
R2850:Itch	UTSW	2	155202221	missense	probably benign
R3021:Itch	UTSW	2	155209126	missense	possibly damaging	0.74
R4676:Itch	UTSW	2	155199435	missense	probably benign	0.05
R4716:Itch	UTSW	2	155210582	critical splice donor site	probably null
R4888:Itch	UTSW	2	155217977	splice site	probably null
R4970:Itch	UTSW	2	155185593	missense	possibly damaging	0.50
R6029:Itch	UTSW	2	155179089	critical splice donor site	probably null
R6122:Itch	UTSW	2	155174065	missense	probably benign	0.05
R6435:Itch	UTSW	2	155209129	missense	probably benign	0.01
R6449:Itch	UTSW	2	155163395	splice site	probably benign
R7069:Itch	UTSW	2	155209994	missense	probably damaging	1.00
R7083:Itch	UTSW	2	155210444	missense	probably damaging	1.00
R7409:Itch	UTSW	2	155199382	missense	probably damaging	0.99
R7689:Itch	UTSW	2	155210002	missense	probably damaging	0.99
R7689:Itch	UTSW	2	155213067	missense	probably benign	0.00
R7974:Itch	UTSW	2	155192159	missense	probably damaging	1.00
R8046:Itch	UTSW	2	155210502	missense	probably damaging	1.00
R8248:Itch	UTSW	2	155206383	critical splice donor site	probably null
R8355:Itch	UTSW	2	155210582	critical splice donor site	probably null
R8428:Itch	UTSW	2	155168707	missense	probably benign	0.38
R8691:Itch	UTSW	2	155210558	nonsense	probably null
R8779:Itch	UTSW	2	155172520	missense	probably benign	0.28
R9010:Itch	UTSW	2	155179071	missense	probably benign
R9130:Itch	UTSW	2	155210125	splice site	probably benign
R9278:Itch	UTSW	2	155203297	missense	probably benign	0.34
Z1177:Itch	UTSW	2	155209059	missense	probably damaging	1.00

Posted On

2015-12-18