Mutagenetix > Incidental Mutation

Incidental Mutation 'R2867:Usp42'

253331

Institutional Source

Beutler Lab

Gene Symbol

Usp42

Ensembl Gene

ENSMUSG00000051306

Gene Name

ubiquitin specific peptidase 42

Synonyms

3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e

MMRRC Submission

040456-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143696080-143718035 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 143701219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 935 (P935S)

Ref Sequence

ENSEMBL: ENSMUSP00000053955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053287]

AlphaFold

B2RQC2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053287
AA Change: P935S

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: P935S

Domain	Start	End	E-Value	Type
low complexity region	65	77	N/A	INTRINSIC
Pfam:UCH	109	408	1.4e-46	PFAM
Pfam:UCH_1	110	391	1.4e-18	PFAM
low complexity region	470	490	N/A	INTRINSIC
low complexity region	567	579	N/A	INTRINSIC
low complexity region	604	613	N/A	INTRINSIC
low complexity region	634	645	N/A	INTRINSIC
low complexity region	954	962	N/A	INTRINSIC
low complexity region	1016	1031	N/A	INTRINSIC
low complexity region	1201	1219	N/A	INTRINSIC
low complexity region	1239	1255	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155408

Meta Mutation Damage Score

0.1147

Coding Region Coverage

1x: 99.6%
3x: 98.6%
10x: 94.8%
20x: 82.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit fecundity and behavioral abnormalities, hyperactivity, increased T cell number, abnormal lens morphology, and cataracts. Males display oligozoospermia and testis degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	T	C	1: 177,595,378 (GRCm39)		probably null	Het
Arid3c	T	C	4: 41,725,958 (GRCm39)	D215G	probably damaging	Het
Birc2	A	C	9: 7,834,478 (GRCm39)	M1R	probably null	Het
Cpz	T	C	5: 35,659,705 (GRCm39)	K647E	probably benign	Het
Cyp7a1	T	C	4: 6,272,493 (GRCm39)	E240G	probably damaging	Het
Dnaaf11	A	T	15: 66,310,257 (GRCm39)	L337*	probably null	Het
Epha6	T	C	16: 59,780,659 (GRCm39)		probably null	Het
Gm42542	T	C	6: 68,872,634 (GRCm39)		probably null	Het
Grin2b	A	G	6: 135,710,637 (GRCm39)	F970L	probably damaging	Het
Kcnma1	A	T	14: 23,423,275 (GRCm39)	N682K	probably benign	Het
Kif20b	A	G	19: 34,917,528 (GRCm39)	E631G	probably damaging	Het
Lctl	T	C	9: 64,045,150 (GRCm39)	S550P	probably benign	Het
Mapk10	C	T	5: 103,186,548 (GRCm39)	D25N	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
N4bp1	T	C	8: 87,588,033 (GRCm39)	N302D	probably benign	Het
Pcdh7	A	T	5: 57,879,236 (GRCm39)	K930N	probably damaging	Het
Pramel16	T	A	4: 143,675,456 (GRCm39)	I457L	probably benign	Het
Proca1	A	T	11: 78,095,806 (GRCm39)	N146I	probably damaging	Het
Ryr2	A	T	13: 11,776,235 (GRCm39)	W1101R	probably damaging	Het
Slc35d3	T	C	10: 19,725,209 (GRCm39)	T216A	probably benign	Het
Thnsl2	C	A	6: 71,108,945 (GRCm39)	D289Y	probably damaging	Het
Tigd4	A	G	3: 84,501,259 (GRCm39)	N59D	possibly damaging	Het
Togaram2	T	C	17: 72,016,592 (GRCm39)	S649P	probably benign	Het
Tradd	G	T	8: 105,986,145 (GRCm39)	F182L	probably benign	Het
Trav17	A	T	14: 54,044,383 (GRCm39)	Y50F	probably benign	Het
Usp37	A	T	1: 74,489,691 (GRCm39)	D808E	probably damaging	Het
Vmn2r23	A	G	6: 123,690,123 (GRCm39)	D333G	possibly damaging	Het
Zfpm2	C	T	15: 40,962,785 (GRCm39)	A149V	probably benign	Het

Other mutations in Usp42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Usp42	APN	5	143,702,897 (GRCm39)	missense	probably benign	0.00
IGL00902:Usp42	APN	5	143,705,629 (GRCm39)	splice site	probably benign
IGL01326:Usp42	APN	5	143,706,970 (GRCm39)	missense	possibly damaging	0.54
IGL01985:Usp42	APN	5	143,700,940 (GRCm39)	missense	probably damaging	1.00
IGL02629:Usp42	APN	5	143,708,909 (GRCm39)	missense	possibly damaging	0.94
IGL02683:Usp42	APN	5	143,701,101 (GRCm39)	missense	possibly damaging	0.55
IGL02700:Usp42	APN	5	143,702,883 (GRCm39)	missense	probably benign	0.01
IGL02965:Usp42	APN	5	143,713,769 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Usp42	UTSW	5	143,700,399 (GRCm39)	missense	probably damaging	1.00
R0043:Usp42	UTSW	5	143,700,465 (GRCm39)	missense	probably benign	0.09
R0043:Usp42	UTSW	5	143,700,465 (GRCm39)	missense	probably benign	0.09
R0420:Usp42	UTSW	5	143,700,616 (GRCm39)	missense	probably damaging	0.99
R1066:Usp42	UTSW	5	143,703,796 (GRCm39)	missense	probably damaging	1.00
R1345:Usp42	UTSW	5	143,703,088 (GRCm39)	missense	probably damaging	1.00
R1628:Usp42	UTSW	5	143,703,122 (GRCm39)	missense	probably damaging	1.00
R1728:Usp42	UTSW	5	143,700,381 (GRCm39)	missense	probably damaging	1.00
R1729:Usp42	UTSW	5	143,700,381 (GRCm39)	missense	probably damaging	1.00
R1767:Usp42	UTSW	5	143,700,621 (GRCm39)	missense	possibly damaging	0.69
R1772:Usp42	UTSW	5	143,702,857 (GRCm39)	missense	probably damaging	1.00
R1784:Usp42	UTSW	5	143,700,381 (GRCm39)	missense	probably damaging	1.00
R1916:Usp42	UTSW	5	143,700,811 (GRCm39)	missense	probably damaging	1.00
R2425:Usp42	UTSW	5	143,701,594 (GRCm39)	missense	probably benign	0.09
R2867:Usp42	UTSW	5	143,701,219 (GRCm39)	missense	possibly damaging	0.52
R2886:Usp42	UTSW	5	143,707,384 (GRCm39)	splice site	probably benign
R3195:Usp42	UTSW	5	143,702,954 (GRCm39)	missense	probably benign	0.02
R3737:Usp42	UTSW	5	143,701,194 (GRCm39)	missense	probably benign	0.00
R3738:Usp42	UTSW	5	143,701,194 (GRCm39)	missense	probably benign	0.00
R4034:Usp42	UTSW	5	143,701,194 (GRCm39)	missense	probably benign	0.00
R4795:Usp42	UTSW	5	143,709,692 (GRCm39)	missense	probably damaging	1.00
R4940:Usp42	UTSW	5	143,705,517 (GRCm39)	missense	probably damaging	1.00
R4967:Usp42	UTSW	5	143,701,119 (GRCm39)	missense	possibly damaging	0.71
R5282:Usp42	UTSW	5	143,707,401 (GRCm39)	missense	probably damaging	1.00
R5773:Usp42	UTSW	5	143,699,467 (GRCm39)	missense	probably benign	0.03
R5778:Usp42	UTSW	5	143,705,331 (GRCm39)	missense	probably damaging	1.00
R5933:Usp42	UTSW	5	143,701,270 (GRCm39)	missense	probably benign	0.00
R6192:Usp42	UTSW	5	143,702,942 (GRCm39)	missense	possibly damaging	0.73
R6275:Usp42	UTSW	5	143,700,727 (GRCm39)	missense	probably damaging	1.00
R6496:Usp42	UTSW	5	143,700,858 (GRCm39)	missense	probably damaging	1.00
R6825:Usp42	UTSW	5	143,713,562 (GRCm39)	missense	probably damaging	1.00
R6939:Usp42	UTSW	5	143,713,724 (GRCm39)	missense	probably damaging	1.00
R7099:Usp42	UTSW	5	143,712,400 (GRCm39)	missense	probably damaging	1.00
R7356:Usp42	UTSW	5	143,702,842 (GRCm39)	missense	possibly damaging	0.56
R7876:Usp42	UTSW	5	143,707,426 (GRCm39)	missense	probably damaging	1.00
R8243:Usp42	UTSW	5	143,700,849 (GRCm39)	missense	probably benign	0.01
R8554:Usp42	UTSW	5	143,706,137 (GRCm39)	missense	probably damaging	0.98
R8716:Usp42	UTSW	5	143,703,696 (GRCm39)	missense	probably damaging	1.00
R8854:Usp42	UTSW	5	143,702,632 (GRCm39)	missense	possibly damaging	0.93
R8886:Usp42	UTSW	5	143,700,714 (GRCm39)	missense	probably damaging	1.00
R8917:Usp42	UTSW	5	143,701,695 (GRCm39)	missense
R9027:Usp42	UTSW	5	143,708,906 (GRCm39)	missense	probably damaging	1.00
R9062:Usp42	UTSW	5	143,703,740 (GRCm39)	missense	possibly damaging	0.92
R9283:Usp42	UTSW	5	143,705,264 (GRCm39)	missense	probably damaging	1.00
R9354:Usp42	UTSW	5	143,701,027 (GRCm39)	missense	probably benign	0.00
R9524:Usp42	UTSW	5	143,702,704 (GRCm39)	missense	possibly damaging	0.85
R9620:Usp42	UTSW	5	143,703,154 (GRCm39)	missense	probably damaging	1.00
R9748:Usp42	UTSW	5	143,713,533 (GRCm39)	critical splice donor site	probably null
R9789:Usp42	UTSW	5	143,706,060 (GRCm39)	missense	possibly damaging	0.94
X0022:Usp42	UTSW	5	143,701,815 (GRCm39)	frame shift	probably null
X0027:Usp42	UTSW	5	143,702,833 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCCCATTGCAGTATGAATTAGTAGG -3'
(R):5'- TGCTCCCTCAGTACTCACAG -3'

Sequencing Primer
(F):5'- ATGAATTAGTAGGGTGTCGGTCC -3'
(R):5'- TCAGTACTCACAGGTGACGG -3'

Posted On

2014-12-04