Mutagenetix > Incidental Mutation

Incidental Mutation 'R4716:Itch'

397203

Institutional Source

Beutler Lab

Gene Symbol

Itch

Ensembl Gene

ENSMUSG00000027598

Gene Name

itchy, E3 ubiquitin protein ligase

Synonyms

6720481N21Rik, C230047C07Rik, 8030492O04Rik, AIP4

MMRRC Submission

041983-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154975429-155068775 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 155052502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105307 (fasta)

Gene Model

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Adam8	T	A	7: 139,563,851 (GRCm39)	D717V	probably benign	Het
Aknad1	T	C	3: 108,682,417 (GRCm39)		probably null	Het
Alk	A	T	17: 72,512,937 (GRCm39)	W341R	probably damaging	Het
Ankdd1b	G	A	13: 96,591,091 (GRCm39)	Q101*	probably null	Het
Anpep	A	C	7: 79,476,380 (GRCm39)	S829A	probably benign	Het
Armh3	A	G	19: 45,948,781 (GRCm39)	S233P	probably damaging	Het
Ate1	A	T	7: 130,115,511 (GRCm39)	C72S	probably damaging	Het
Atp6v0a4	G	A	6: 38,037,999 (GRCm39)	L533F	probably damaging	Het
Bach1	T	C	16: 87,512,267 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,799,599 (GRCm39)	D240G	probably benign	Het
Cdc14b	C	T	13: 64,357,014 (GRCm39)	S21N	probably damaging	Het
Cdh3	A	G	8: 107,270,520 (GRCm39)	I466V	probably benign	Het
Cog1	A	G	11: 113,547,923 (GRCm39)	E137G	probably damaging	Het
Col4a2	A	G	8: 11,452,224 (GRCm39)	D180G	probably damaging	Het
Cyp2c40	A	T	19: 39,791,105 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,827,188 (GRCm39)	R97H	probably damaging	Het
Ddx52	T	C	11: 83,846,031 (GRCm39)		probably null	Het
Dhx58	C	T	11: 100,587,797 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,360,427 (GRCm39)	S368T	probably damaging	Het
Dnah17	C	A	11: 117,964,474 (GRCm39)	V2435L	probably benign	Het
Dnajc7	A	G	11: 100,510,402 (GRCm39)	V10A	probably benign	Het
Dscam	G	T	16: 96,420,771 (GRCm39)	T1705K	possibly damaging	Het
Dscaml1	G	A	9: 45,361,890 (GRCm39)	V217M	probably damaging	Het
Dync2h1	A	G	9: 7,142,648 (GRCm39)		probably null	Het
F5	A	G	1: 164,021,488 (GRCm39)	D1321G	probably damaging	Het
Fam174a	C	T	1: 95,241,770 (GRCm39)	P77S	probably benign	Het
Fars2	G	A	13: 36,389,051 (GRCm39)	R180H	probably damaging	Het
Fnbp1	T	C	2: 30,945,532 (GRCm39)	T154A	probably benign	Het
Fsip2	T	A	2: 82,805,203 (GRCm39)	N507K	probably damaging	Het
Glg1	G	T	8: 111,887,407 (GRCm39)	Y449*	probably null	Het
Gm15130	A	T	2: 110,964,560 (GRCm39)	Y187*	probably null	Het
Gm973	A	T	1: 59,591,713 (GRCm39)	K366*	probably null	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hao1	A	G	2: 134,347,540 (GRCm39)	I255T	probably damaging	Het
Herc6	T	A	6: 57,575,423 (GRCm39)	V148E	probably damaging	Het
Insm2	T	A	12: 55,647,677 (GRCm39)	C474S	possibly damaging	Het
Itga2	A	G	13: 114,993,909 (GRCm39)	V748A	probably damaging	Het
Itga9	T	A	9: 118,510,826 (GRCm39)	S452T	probably damaging	Het
Kdm4b	C	A	17: 56,693,178 (GRCm39)	D338E	probably benign	Het
Krt40	G	A	11: 99,431,045 (GRCm39)	R155C	probably damaging	Het
Krtap16-1	A	G	11: 99,876,000 (GRCm39)	V468A	probably damaging	Het
Lactb2	G	A	1: 13,708,619 (GRCm39)	P143L	probably damaging	Het
Lrba	C	A	3: 86,550,021 (GRCm39)	T2330K	probably damaging	Het
Lrp2bp	A	T	8: 46,466,208 (GRCm39)	I106F	probably benign	Het
Luzp2	A	G	7: 54,485,710 (GRCm39)	K2E	probably damaging	Het
Lypd6	T	C	2: 50,078,855 (GRCm39)		probably null	Het
Maml1	A	T	11: 50,148,694 (GRCm39)	D1015E	probably benign	Het
Mdfi	T	G	17: 48,131,906 (GRCm39)	D106A	possibly damaging	Het
Olfm3	T	C	3: 114,874,755 (GRCm39)	M17T	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2o1	A	G	11: 49,051,717 (GRCm39)	Y292C	probably damaging	Het
Or8c16	T	A	9: 38,130,714 (GRCm39)	N198K	probably damaging	Het
Or8g30	A	G	9: 39,230,725 (GRCm39)	F62L	probably benign	Het
Otud7b	T	G	3: 96,058,227 (GRCm39)	L261V	probably damaging	Het
P2ry1	A	G	3: 60,910,893 (GRCm39)	N11D	probably damaging	Het
Pate2	T	C	9: 35,596,978 (GRCm39)		probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Per1	A	G	11: 68,992,057 (GRCm39)	E137G	probably damaging	Het
Phf11d	T	C	14: 59,590,791 (GRCm39)	T189A	probably benign	Het
Pik3r5	C	A	11: 68,386,030 (GRCm39)	S738R	possibly damaging	Het
Pikfyve	A	G	1: 65,285,635 (GRCm39)	Y913C	possibly damaging	Het
Pkd1	T	G	17: 24,795,107 (GRCm39)	S2265A	probably damaging	Het
Pkhd1l1	C	A	15: 44,419,428 (GRCm39)	N2964K	probably damaging	Het
Plch1	T	G	3: 63,688,967 (GRCm39)	D79A	probably damaging	Het
Pnliprp1	A	C	19: 58,728,901 (GRCm39)	T363P	possibly damaging	Het
Ppp1r10	T	A	17: 36,240,352 (GRCm39)	D547E	probably benign	Het
Prkdc	T	A	16: 15,628,701 (GRCm39)	I3482K	probably benign	Het
Ptpn4	A	G	1: 119,649,598 (GRCm39)	Y333H	probably damaging	Het
Ptpru	T	A	4: 131,548,279 (GRCm39)	M73L	probably benign	Het
Rrp12	A	G	19: 41,865,867 (GRCm39)	Y698H	probably damaging	Het
Scaf8	T	C	17: 3,227,398 (GRCm39)	F338L	unknown	Het
Slc17a1	G	T	13: 24,064,576 (GRCm39)	V347L	probably benign	Het
Slc1a2	T	A	2: 102,578,883 (GRCm39)	V263E	probably damaging	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Slc6a3	A	C	13: 73,705,195 (GRCm39)	I229L	probably benign	Het
Sos2	T	C	12: 69,654,145 (GRCm39)	I703V	probably benign	Het
Srpk1	T	C	17: 28,840,982 (GRCm39)	T15A	probably benign	Het
St6gal2	A	T	17: 55,817,367 (GRCm39)	Q510L	probably benign	Het
Stk24	T	C	14: 121,532,130 (GRCm39)	D289G	possibly damaging	Het
Taf2	T	G	15: 54,929,364 (GRCm39)	K64T	probably benign	Het
Tbx3	A	G	5: 119,813,735 (GRCm39)	E257G	possibly damaging	Het
Tmem102	A	T	11: 69,695,022 (GRCm39)	F317I	probably damaging	Het
Trav10	A	G	14: 53,743,497 (GRCm39)	S33G	possibly damaging	Het
Ttn	T	A	2: 76,745,408 (GRCm39)	I5214F	probably damaging	Het
Ube2f	T	A	1: 91,182,002 (GRCm39)	L2Q	probably damaging	Het
Ube4b	A	G	4: 149,429,069 (GRCm39)	F857L	probably damaging	Het
Vmn2r18	T	A	5: 151,485,602 (GRCm39)	I631F	possibly damaging	Het
Zfp280d	T	A	9: 72,219,947 (GRCm39)	S241T	possibly damaging	Het
Zfp638	T	A	6: 83,956,544 (GRCm39)	L1717*	probably null	Het
Zfp719	A	G	7: 43,240,535 (GRCm39)	N708D	possibly damaging	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
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
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'- GAACTGCATCCAAGGTCTTAAG -3'
(R):5'- TGCTGTCAAAAGAAACGTTGTC -3'

Sequencing Primer
(F):5'- CTGCATCCAAGGTCTTAAGTAGTAAC -3'
(R):5'- GTACACGCTATGCTCCTGAGTG -3'

Posted On

2016-06-28