Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00796:Itch'

11494

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 #

IGL00796

Quality Score

Status

Chromosome

Chromosomal Location

154975429-155068775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155051002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 563 (H563L)

Ref Sequence

ENSEMBL: ENSMUSP00000105307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029126] [ENSMUST00000109685]

AlphaFold

Q8C863

Predicted Effect

probably damaging
Transcript: ENSMUST00000029126
AA Change: H563L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: H563L

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: H563L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: H563L

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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh5	A	G	3: 138,156,742 (GRCm39)	T143A	probably benign	Het
Alk	T	A	17: 72,212,137 (GRCm39)	N802I	possibly damaging	Het
Aspn	A	G	13: 49,710,893 (GRCm39)	I179M	probably damaging	Het
Bptf	A	G	11: 106,945,376 (GRCm39)	L2506P	probably damaging	Het
Cacna1f	T	A	X: 7,497,270 (GRCm39)	D1594E	probably damaging	Het
Chd7	T	A	4: 8,847,271 (GRCm39)	N1671K	possibly damaging	Het
Dnah7b	T	C	1: 46,250,497 (GRCm39)	V1706A	probably damaging	Het
Elmo2	A	T	2: 165,133,934 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,291,959 (GRCm39)	S1108P	probably benign	Het
Fam53a	A	T	5: 33,758,171 (GRCm39)	D317E	probably benign	Het
Gria2	T	C	3: 80,618,097 (GRCm39)	N313D	probably benign	Het
Kdm1a	G	A	4: 136,281,558 (GRCm39)	A651V	probably damaging	Het
Myb	T	G	10: 21,017,698 (GRCm39)	Q631P	probably benign	Het
Myh9	A	T	15: 77,681,195 (GRCm39)		probably benign	Het
Nars2	C	A	7: 96,680,786 (GRCm39)	L319I	probably benign	Het
Nars2	T	A	7: 96,680,787 (GRCm39)	L319Q	probably benign	Het
Pdcl2	G	A	5: 76,467,022 (GRCm39)	T57I	probably damaging	Het
Pde6g	T	A	11: 120,341,390 (GRCm39)	I17L	probably benign	Het
Ppp1r9a	T	A	6: 5,157,014 (GRCm39)	M964K	probably benign	Het
Ssxb2	A	G	X: 8,324,459 (GRCm39)		probably benign	Het
Tonsl	T	C	15: 76,509,349 (GRCm39)	T8A	probably benign	Het
Zdbf2	T	C	1: 63,346,364 (GRCm39)	M1581T	probably benign	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
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
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

2012-12-06