Mutagenetix > Incidental Mutation

Incidental Mutation 'R9152:Usp22'

695101

Institutional Source

Beutler Lab

Gene Symbol

Usp22

Ensembl Gene

ENSMUSG00000042506

Gene Name

ubiquitin specific peptidase 22

Synonyms

MMRRC Submission

068939-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9152 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61042611-61065881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61049201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 383 (C383R)

Ref Sequence

ENSEMBL: ENSMUSP00000041263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041683] [ENSMUST00000174301]

AlphaFold

Q5DU02

Predicted Effect

probably damaging
Transcript: ENSMUST00000041683
AA Change: C383R

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

SMART Domains

Protein: ENSMUSP00000041263
Gene: ENSMUSG00000042506
AA Change: C383R

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

probably benign
Transcript: ENSMUST00000174301

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (44/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	C	A	13: 104,613,275 (GRCm39)	R1009S	probably benign	Het
Akap13	T	A	7: 75,261,033 (GRCm39)	I1219K	probably damaging	Het
Ap3b1	T	C	13: 94,609,439 (GRCm39)		probably null	Het
Ap3b1	T	A	13: 94,630,239 (GRCm39)	D831E	unknown	Het
Arsa	G	A	15: 89,359,995 (GRCm39)		probably benign	Het
Clrn2	T	C	5: 45,621,254 (GRCm39)	I216T	probably benign	Het
Cspg4	A	G	9: 56,795,463 (GRCm39)	K1066R	probably benign	Het
Cul4a	T	C	8: 13,155,799 (GRCm39)	M15T	probably benign	Het
Defb38	C	T	8: 19,076,558 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 66,021,457 (GRCm39)	D323G	probably damaging	Het
Dsg1c	T	A	18: 20,416,329 (GRCm39)	D743E	probably benign	Het
Eif1ad11	T	C	12: 87,993,946 (GRCm39)	L58P	probably damaging	Het
Elf1	T	C	14: 79,808,352 (GRCm39)	L268P	probably damaging	Het
Helq	G	T	5: 100,918,325 (GRCm39)	A863D	probably benign	Het
Hfm1	T	A	5: 106,989,611 (GRCm39)	R1368S	probably benign	Het
Hspg2	G	A	4: 137,249,876 (GRCm39)	G1379E	possibly damaging	Het
Kcnq5	A	T	1: 21,539,692 (GRCm39)		probably null	Het
Lrit2	C	T	14: 36,794,187 (GRCm39)	T417I	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Macroh2a1	CTTACCTCCAGCT	C	13: 56,232,004 (GRCm39)		probably null	Het
Mgat2	G	A	12: 69,232,497 (GRCm39)	W357*	probably null	Het
Mlkl	A	G	8: 112,046,403 (GRCm39)	L290P	probably damaging	Het
Or1j11	T	A	2: 36,311,439 (GRCm39)	S10T	possibly damaging	Het
Or2k2	T	C	4: 58,785,114 (GRCm39)	I203V	probably benign	Het
Or7g32	A	T	9: 19,408,448 (GRCm39)	I135F	probably damaging	Het
Pcnx1	T	C	12: 82,022,589 (GRCm39)	V853A		Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pik3c2a	G	A	7: 116,017,004 (GRCm39)	S251L	probably benign	Het
Prkch	T	C	12: 73,738,418 (GRCm39)	M175T	possibly damaging	Het
Psg22	A	T	7: 18,460,646 (GRCm39)	Q425L	probably damaging	Het
Qpctl	A	G	7: 18,883,025 (GRCm39)	L29P	probably damaging	Het
Ranbp10	A	T	8: 106,499,140 (GRCm39)	L549M	probably benign	Het
Rbbp6	A	G	7: 122,600,697 (GRCm39)	E1568G	unknown	Het
Rrh	A	T	3: 129,606,903 (GRCm39)	D173E	probably benign	Het
Scart2	A	T	7: 139,877,256 (GRCm39)	N857I	possibly damaging	Het
Selplg	A	G	5: 113,957,467 (GRCm39)	S280P	probably benign	Het
Septin11	T	C	5: 93,287,329 (GRCm39)	S17P	probably benign	Het
Stard9	T	C	2: 120,529,068 (GRCm39)	V1775A	probably damaging	Het
Tep1	A	C	14: 51,104,162 (GRCm39)	V244G	probably benign	Het
Tex24	A	C	8: 27,835,379 (GRCm39)	E302D	possibly damaging	Het
Trav18	A	G	14: 54,069,011 (GRCm39)	T19A	probably benign	Het
Trim56	T	C	5: 137,143,387 (GRCm39)	D43G	probably benign	Het
Trp53bp1	T	C	2: 121,029,056 (GRCm39)	T1869A	probably damaging	Het
Zdhhc22	G	A	12: 87,035,192 (GRCm39)	P87S	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
IGL02021:Usp22	APN	11	61,045,325 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTTCCTGCTTCCTGGGACTG -3'
(R):5'- TACACACAGACACTAAGACAAGTTTA -3'

Sequencing Primer
(F):5'- CTGGGACTGGTGCACTG -3'
(R):5'- GATGACACCTTTAACTACTGGTGAAC -3'

Posted On

2022-01-20