Mutagenetix > Incidental Mutation

Incidental Mutation 'R0043:Usp42'

16080

Institutional Source

Beutler Lab

Gene Symbol

Usp42

Ensembl Gene

ENSMUSG00000051306

Gene Name

ubiquitin specific peptidase 42

Synonyms

3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e

MMRRC Submission

038337-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0043 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

143696080-143718035 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 143700465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1186 (V1186G)

Ref Sequence

ENSEMBL: ENSMUSP00000053955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053287] [ENSMUST00000116456]

AlphaFold

B2RQC2

Predicted Effect

probably benign
Transcript: ENSMUST00000053287
AA Change: V1186G

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: V1186G

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

probably benign
Transcript: ENSMUST00000116456

SMART Domains

Protein: ENSMUSP00000112157
Gene: ENSMUSG00000018001

Domain	Start	End	E-Value	Type
low complexity region	3	10	N/A	INTRINSIC
low complexity region	14	35	N/A	INTRINSIC
Sec7	63	248	3.21e-104	SMART
PH	265	382	2.36e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155408

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 81.2%
3x: 72.1%
10x: 49.9%
20x: 30.2%

Validation Efficiency

90% (56/62)

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
Accs	A	G	2: 93,672,230 (GRCm39)	Y213H	probably benign	Het
Adcy9	A	G	16: 4,106,879 (GRCm39)	L982P	probably benign	Het
Cntnap2	T	A	6: 46,460,917 (GRCm39)	V651E	probably benign	Het
Cstf3	A	T	2: 104,475,430 (GRCm39)		probably benign	Het
Dnah1	T	C	14: 30,996,362 (GRCm39)	D2658G	probably damaging	Het
Dsg4	T	C	18: 20,586,029 (GRCm39)	S240P	probably damaging	Het
Dync2h1	C	T	9: 7,005,574 (GRCm39)	M3765I	probably benign	Het
Fbxw7	T	C	3: 84,879,874 (GRCm39)		probably benign	Het
Fhip2b	A	T	14: 70,826,101 (GRCm39)	S304T	probably benign	Het
Gata4	T	C	14: 63,440,750 (GRCm39)		probably benign	Het
Hyal1	T	C	9: 107,456,519 (GRCm39)	L152P	probably benign	Het
Ifi207	T	A	1: 173,556,678 (GRCm39)	T694S	possibly damaging	Het
Kalrn	C	A	16: 33,875,276 (GRCm39)	G99W	probably damaging	Het
Man1a2	A	T	3: 100,495,196 (GRCm39)	W448R	probably damaging	Het
Mfsd6	A	T	1: 52,747,811 (GRCm39)	Y351*	probably null	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mki67	T	C	7: 135,302,310 (GRCm39)	D908G	probably benign	Het
Nav3	A	G	10: 109,603,379 (GRCm39)	S1057P	possibly damaging	Het
Rasgef1b	T	C	5: 99,391,053 (GRCm39)	Y102C	probably damaging	Het
Sbf1	A	G	15: 89,179,764 (GRCm39)	V1281A	probably benign	Het
Sfmbt1	T	A	14: 30,538,764 (GRCm39)	S794R	probably damaging	Het
Skint3	T	A	4: 112,134,820 (GRCm39)	V331E	probably damaging	Het
Spata31e2	T	A	1: 26,722,883 (GRCm39)	I766F	possibly damaging	Het
Spata6	A	T	4: 111,638,002 (GRCm39)	R277S	probably damaging	Het
Spink12	T	C	18: 44,240,763 (GRCm39)	C50R	probably damaging	Het
Trappc11	A	G	8: 47,958,610 (GRCm39)		probably benign	Het
Ube2u	G	T	4: 100,340,026 (GRCm39)	V66F	possibly damaging	Het
Yme1l1	T	C	2: 23,077,815 (GRCm39)	I419T	probably damaging	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
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
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

Posted On

2013-01-08