Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02021:Usp22'

183979

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp22

Ensembl Gene

ENSMUSG00000042506

Gene Name

ubiquitin specific peptidase 22

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02021

Quality Score

Status

Chromosome

Chromosomal Location

61042611-61065881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61045325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 517 (Y517F)

Ref Sequence

ENSEMBL: ENSMUSP00000041263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041683]

AlphaFold

Q5DU02

Predicted Effect

probably damaging
Transcript: ENSMUST00000041683
AA Change: Y517F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041263
Gene: ENSMUSG00000042506
AA Change: Y517F

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	63	124	5.5e-16	PFAM
Pfam:UCH	175	517	5.5e-60	PFAM
Pfam:UCH_1	176	501	2.8e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174035

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality, embryonic growth retardation, and increased apoptosis in mouse embryonic fibroblasts. Homozygotes for a hypomorphic allele are viable but show postnatal growth retardation, and impaired cell differentiation in the small intestine and brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002L01Rik	G	A	12: 3,457,890 (GRCm39)		probably benign	Het
Adam10	C	T	9: 70,651,191 (GRCm39)	T72I	possibly damaging	Het
Adam26b	T	A	8: 43,972,909 (GRCm39)	M698L	probably benign	Het
Ankrd27	A	T	7: 35,313,881 (GRCm39)	H404L	probably damaging	Het
Atp1a1	T	C	3: 101,501,524 (GRCm39)	S60G	probably benign	Het
Bcat1	T	C	6: 144,993,015 (GRCm39)		probably benign	Het
Cd177	G	A	7: 24,444,631 (GRCm39)	A650V	probably benign	Het
Cmya5	T	C	13: 93,231,057 (GRCm39)	N1344D	probably benign	Het
Ctsd	G	T	7: 141,939,213 (GRCm39)	L71I	probably damaging	Het
Dctn2	T	C	10: 127,110,926 (GRCm39)		probably null	Het
Ddr1	G	A	17: 35,994,372 (GRCm39)	A801V	probably damaging	Het
Dennd2b	T	C	7: 109,156,579 (GRCm39)	Y57C	probably damaging	Het
Duoxa1	A	G	2: 122,135,127 (GRCm39)	F251S	probably benign	Het
Fcho1	A	C	8: 72,173,919 (GRCm39)	S2A	probably benign	Het
Gm4861	T	C	3: 137,257,871 (GRCm39)		probably null	Het
Gm4922	C	A	10: 18,660,225 (GRCm39)	G166W	probably damaging	Het
Hic2	A	G	16: 17,076,617 (GRCm39)	E482G	probably benign	Het
Hoxa5	C	T	6: 52,179,637 (GRCm39)	R246K	probably damaging	Het
Ipo11	A	T	13: 106,993,745 (GRCm39)	F721I	probably damaging	Het
Lama1	A	T	17: 68,128,621 (GRCm39)	S2993C	probably damaging	Het
Lonp2	T	A	8: 87,435,599 (GRCm39)	S612T	probably benign	Het
Lpar5	T	G	6: 125,058,955 (GRCm39)	Y225*	probably null	Het
Map4k3	A	G	17: 80,917,255 (GRCm39)	Y574H	probably damaging	Het
Msantd4	A	G	9: 4,385,163 (GRCm39)	E296G	probably damaging	Het
Ncs1	A	G	2: 31,174,177 (GRCm39)	D109G	probably damaging	Het
Nnt	T	C	13: 119,472,783 (GRCm39)		probably benign	Het
Nr1h5	T	C	3: 102,855,058 (GRCm39)		probably benign	Het
Or2ag20	A	T	7: 106,464,696 (GRCm39)	K170*	probably null	Het
Or4g7	A	G	2: 111,309,825 (GRCm39)	D232G	probably benign	Het
Plk4	A	G	3: 40,765,143 (GRCm39)	D595G	probably damaging	Het
Rbm17	C	A	2: 11,600,249 (GRCm39)		probably benign	Het
Slc24a3	T	A	2: 145,360,836 (GRCm39)	I193N	probably damaging	Het
Stat5a	G	T	11: 100,774,715 (GRCm39)	V759F	probably damaging	Het
Tgfbi	T	A	13: 56,779,166 (GRCm39)	L463Q	probably damaging	Het
Tigar	G	T	6: 127,066,253 (GRCm39)	A95E	probably damaging	Het
Tph1	A	G	7: 46,306,421 (GRCm39)	I180T	possibly damaging	Het
Vmn2r105	A	C	17: 20,448,157 (GRCm39)	I222M	possibly damaging	Het
Wapl	A	G	14: 34,444,293 (GRCm39)	I582V	probably benign	Het
Zfp217	A	G	2: 169,957,069 (GRCm39)	V643A	probably benign	Het

Other mutations in Usp22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Usp22	APN	11	61,046,114 (GRCm39)	missense	probably damaging	0.99
R0230:Usp22	UTSW	11	61,050,023 (GRCm39)	unclassified	probably benign
R1635:Usp22	UTSW	11	61,052,144 (GRCm39)	nonsense	probably null
R2198:Usp22	UTSW	11	61,050,163 (GRCm39)	missense	probably damaging	0.97
R3150:Usp22	UTSW	11	61,051,407 (GRCm39)	missense	probably damaging	0.98
R4296:Usp22	UTSW	11	61,052,290 (GRCm39)	splice site	probably null
R4618:Usp22	UTSW	11	61,052,269 (GRCm39)	missense	probably damaging	0.96
R4764:Usp22	UTSW	11	61,051,462 (GRCm39)	missense	probably damaging	0.98
R4979:Usp22	UTSW	11	61,048,042 (GRCm39)	missense	probably damaging	1.00
R5620:Usp22	UTSW	11	61,049,206 (GRCm39)	missense	probably damaging	1.00
R6191:Usp22	UTSW	11	61,065,602 (GRCm39)	missense	probably benign	0.24
R6750:Usp22	UTSW	11	61,048,042 (GRCm39)	missense	probably damaging	1.00
R7129:Usp22	UTSW	11	61,053,775 (GRCm39)	missense	probably damaging	0.98
R7991:Usp22	UTSW	11	61,065,588 (GRCm39)	missense	probably benign	0.35
R9152:Usp22	UTSW	11	61,049,201 (GRCm39)	missense	probably damaging	1.00
R9732:Usp22	UTSW	11	61,051,437 (GRCm39)	missense	probably damaging	1.00
R9780:Usp22	UTSW	11	61,050,069 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07