Mutagenetix > Incidental Mutation

Incidental Mutation 'R2348:Itch'

246019

Institutional Source

Beutler Lab

Gene Symbol

Itch

Ensembl Gene

ENSMUSG00000027598

Gene Name

itchy, E3 ubiquitin protein ligase

Synonyms

6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4

MMRRC Submission

040330-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2348 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154975429-155068775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155050998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 562 (S562P)

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: S562P

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: S562P

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

possibly damaging
Transcript: ENSMUST00000109685
AA Change: S562P

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: S562P

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

Meta Mutation Damage Score

0.9676

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (31/31)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1	A	G	17: 93,509,702 (GRCm39)	D51G	possibly damaging	Het
Ano3	A	G	2: 110,614,088 (GRCm39)	I205T	possibly damaging	Het
Arhgap10	A	T	8: 78,177,555 (GRCm39)		probably benign	Het
Asb18	T	G	1: 89,942,256 (GRCm39)	D15A	probably damaging	Het
Atm	C	A	9: 53,403,568 (GRCm39)	S1368I	possibly damaging	Het
Atp9a	A	T	2: 168,552,746 (GRCm39)		probably benign	Het
C2cd3	T	C	7: 100,062,573 (GRCm39)	V653A	probably damaging	Het
Ctc1	T	A	11: 68,917,017 (GRCm39)	S304T	probably benign	Het
Dennd4c	G	A	4: 86,729,764 (GRCm39)	V789I	probably benign	Het
Dlgap4	C	A	2: 156,543,126 (GRCm39)	D176E	possibly damaging	Het
Hdac5	T	C	11: 102,090,840 (GRCm39)	T747A	probably benign	Het
Htr2a	A	T	14: 74,882,550 (GRCm39)	N179Y	probably damaging	Het
Ift52	T	C	2: 162,887,177 (GRCm39)	V393A	probably damaging	Het
Khdc4	T	C	3: 88,616,183 (GRCm39)	S457P	probably benign	Het
Kiss1r	G	T	10: 79,757,654 (GRCm39)	R336L	probably benign	Het
Klra13-ps	A	T	6: 130,268,271 (GRCm39)		noncoding transcript	Het
Krt8	T	C	15: 101,907,300 (GRCm39)	D261G	probably benign	Het
Mycl	A	T	4: 122,890,745 (GRCm39)	T144S	probably benign	Het
Naip5	C	T	13: 100,356,246 (GRCm39)	R1123K	probably benign	Het
Or5b122	A	T	19: 13,563,553 (GRCm39)	E295V	probably damaging	Het
Rasip1	T	G	7: 45,278,507 (GRCm39)		probably null	Het
Rc3h1	C	A	1: 160,778,430 (GRCm39)	R452S	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Tpk1	A	G	6: 43,323,778 (GRCm39)	S224P	probably damaging	Het
Vmn2r88	A	T	14: 51,651,461 (GRCm39)	K258N	probably benign	Het
Vps37c	T	C	19: 10,683,664 (GRCm39)	S29P	probably damaging	Het
Zfp457	T	A	13: 67,441,468 (GRCm39)	D369V	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- CAATGTGAGTTTGAACAGAACCAAG -3'
(R):5'- AGAACTCACTTTCCCTAAAGGTCC -3'

Sequencing Primer
(F):5'- GAGTTTGAACAGAACCAAGAAAACTC -3'
(R):5'- GCAGAAGATCCTGGTTCATTCTCAG -3'

Posted On

2014-10-30