Mutagenetix > Incidental Mutation

Incidental Mutation 'R3021:Itch'

257738

Institutional Source

Beutler Lab

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 #

R3021 (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 155051046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 578 (K578E)

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: K578E

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029126
Gene: ENSMUSG00000027598
AA Change: K578E

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: K578E

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105307
Gene: ENSMUSG00000027598
AA Change: K578E

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.0%

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1c1	T	C	15: 38,689,460 (GRCm39)	V307A	possibly damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Ccdc85a	T	C	11: 28,526,894 (GRCm39)	E210G	possibly damaging	Het
Dennd1c	C	T	17: 57,381,180 (GRCm39)		probably null	Het
Eng	T	C	2: 32,568,580 (GRCm39)	V474A	probably damaging	Het
Fam114a2	T	C	11: 57,390,625 (GRCm39)	D303G	probably benign	Het
Fat1	T	A	8: 45,497,048 (GRCm39)	C4178S	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Inpp4b	A	T	8: 82,629,467 (GRCm39)	E267D	possibly damaging	Het
Mttp	T	C	3: 137,817,464 (GRCm39)	M444V	probably benign	Het
Or2a56	T	C	6: 42,933,118 (GRCm39)	S229P	possibly damaging	Het
Pgm3	A	T	9: 86,449,588 (GRCm39)	V144E	possibly damaging	Het
Ppp3cb	A	T	14: 20,573,921 (GRCm39)	Y271*	probably null	Het
Pramel31	T	A	4: 144,088,369 (GRCm39)	M55K	probably damaging	Het
Ptk2b	A	T	14: 66,415,632 (GRCm39)		probably null	Het
Rdh1	G	A	10: 127,596,077 (GRCm39)	V91M	possibly damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Smad2	T	G	18: 76,395,703 (GRCm39)	S47R	probably damaging	Het
Smchd1	G	T	17: 71,694,093 (GRCm39)	S1217R	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	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
R2348:Itch	UTSW	2	155,050,998 (GRCm39)	missense	possibly damaging	0.93
R2850:Itch	UTSW	2	155,044,141 (GRCm39)	missense	probably benign
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'- GATGTGAGCAGGTTCCTGAC -3'
(R):5'- GAACTCACTTTCCCTAAAGGTCCC -3'

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

Posted On

2015-01-11