Mutagenetix > Incidental Mutation

Incidental Mutation 'R1365:Itch'

155993

Institutional Source

Beutler Lab

Gene Symbol

Itch

Ensembl Gene

ENSMUSG00000027598

Gene Name

itchy, E3 ubiquitin protein ligase

Synonyms

6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4

MMRRC Submission

039430-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1365 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154975429-155068775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155054951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 752 (N752D)

Ref Sequence

ENSEMBL: ENSMUSP00000105307 (fasta)

Gene Model

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

AlphaFold

Q8C863

Predicted Effect

probably benign
Transcript: ENSMUST00000029126
AA Change: N752D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: N752D

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 benign
Transcript: ENSMUST00000109685
AA Change: N752D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: N752D

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

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.6%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef28	G	A	13: 98,211,632 (GRCm39)	T117M	probably damaging	Het
Asb15	T	C	6: 24,567,269 (GRCm39)	I530T	possibly damaging	Het
Brca1	T	C	11: 101,392,822 (GRCm39)	N1673S	probably benign	Het
Cd48	A	T	1: 171,527,129 (GRCm39)	Q185L	probably damaging	Het
Cog2	A	T	8: 125,267,713 (GRCm39)	K343I	probably damaging	Het
Dars2	G	A	1: 160,872,564 (GRCm39)	Q546*	probably null	Het
Dst	A	G	1: 34,227,275 (GRCm39)	K1623E	probably benign	Het
Epn1	G	A	7: 5,096,369 (GRCm39)	R221Q	probably benign	Het
Gtf2b	T	C	3: 142,477,227 (GRCm39)	I33T	probably damaging	Het
Hsf4	G	T	8: 105,997,726 (GRCm39)	R156L	probably damaging	Het
Kif28	G	A	1: 179,567,552 (GRCm39)	Q73*	probably null	Het
Mamdc4	T	C	2: 25,456,036 (GRCm39)	Y790C	probably damaging	Het
Med1	T	C	11: 98,046,821 (GRCm39)		probably benign	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Nf1	A	G	11: 79,438,711 (GRCm39)		probably null	Het
Oxct2b	G	A	4: 123,011,162 (GRCm39)	V361I	probably benign	Het
Pid1	T	C	1: 84,015,862 (GRCm39)	M168V	probably damaging	Het
Plk1	A	G	7: 121,767,852 (GRCm39)	D419G	probably damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Sem1	T	C	6: 6,560,501 (GRCm39)	D26G	possibly damaging	Het
Sin3a	C	T	9: 57,032,487 (GRCm39)	R1141*	probably null	Het
Slf1	C	T	13: 77,274,490 (GRCm39)	A68T	probably damaging	Het
Trmo	A	G	4: 46,380,278 (GRCm39)	S364P	probably damaging	Het
Uchl3	A	G	14: 101,891,528 (GRCm39)	E10G	probably damaging	Het
Usp14	C	T	18: 10,000,490 (GRCm39)		probably null	Het
Vmn1r203	T	A	13: 22,708,756 (GRCm39)	M179K	probably benign	Het
Vps13a	A	G	19: 16,596,810 (GRCm39)	Y3103H	probably damaging	Het
Zfp804a	T	C	2: 82,087,590 (GRCm39)	L473P	probably benign	Het
Zfp979	A	T	4: 147,697,681 (GRCm39)	Y343N	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
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

Predicted Primers

PCR Primer
(F):5'- TGAGAGTCAGGCTGACAGAACTTGATG -3'
(R):5'- CCGTAAACTCTGGCAAAGGTACAAGG -3'

Sequencing Primer
(F):5'- GTCGAGTTTCCTGATGCTTGC -3'
(R):5'- CAAAGGTACAAGGTATGTGTTGCTC -3'

Posted On

2014-02-11