Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02700:Usp42'

304102

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp42

Ensembl Gene

ENSMUSG00000051306

Gene Name

ubiquitin specific peptidase 42

Synonyms

3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02700

Quality Score

Status

Chromosome

Chromosomal Location

143696080-143718035 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143702883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 579 (S579R)

Ref Sequence

ENSEMBL: ENSMUSP00000053955 (fasta)

Gene Model

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

AlphaFold

B2RQC2

Predicted Effect

probably benign
Transcript: ENSMUST00000053287
AA Change: S579R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: S579R

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: ENSMUST00000129606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155408

Coding Region Coverage

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	C	A	8: 122,262,161 (GRCm39)		probably null	Het
Acacb	A	G	5: 114,356,942 (GRCm39)	Y1291C	probably damaging	Het
Agtpbp1	C	T	13: 59,676,233 (GRCm39)	C179Y	probably damaging	Het
Capn15	T	C	17: 26,181,982 (GRCm39)	D609G	probably damaging	Het
Cnnm3	T	A	1: 36,552,189 (GRCm39)	F400I	probably damaging	Het
Dst	A	C	1: 34,301,201 (GRCm39)	E1189A	probably damaging	Het
Gcnt1	G	A	19: 17,306,780 (GRCm39)	T315I	probably damaging	Het
H2-M1	T	C	17: 36,982,161 (GRCm39)	I147V	possibly damaging	Het
Hk1	T	C	10: 62,120,590 (GRCm39)	N536D	probably damaging	Het
Klhl5	C	T	5: 65,288,773 (GRCm39)	Q12*	probably null	Het
Lgals12	C	T	19: 7,575,455 (GRCm39)	A294T	probably benign	Het
Mideas	T	C	12: 84,199,636 (GRCm39)	N1028S	probably benign	Het
Mki67	G	T	7: 135,309,931 (GRCm39)	S173R	probably benign	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Obox5	A	G	7: 15,492,888 (GRCm39)	D281G	possibly damaging	Het
Or4f6	T	C	2: 111,839,036 (GRCm39)	D165G	probably benign	Het
Pacs2	T	A	12: 113,025,330 (GRCm39)	I494N	probably damaging	Het
Pax5	G	T	4: 44,682,722 (GRCm39)	T141K	probably damaging	Het
Phf21b	T	C	15: 84,687,662 (GRCm39)	N230S	probably benign	Het
Rab3gap1	G	T	1: 127,866,342 (GRCm39)	A841S	probably benign	Het
Siglecf	T	C	7: 43,001,802 (GRCm39)	L204P	probably damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Snca	G	A	6: 60,804,521 (GRCm39)	T22I	possibly damaging	Het
Syvn1	A	G	19: 6,097,973 (GRCm39)	T4A	probably benign	Het
Usp36	T	C	11: 118,166,983 (GRCm39)	N298S	possibly damaging	Het
Vezf1	T	C	11: 87,964,129 (GRCm39)	S94P	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
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
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

2015-04-16