Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00657:Usp31'

14741

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp31

Ensembl Gene

ENSMUSG00000063317

Gene Name

ubiquitin specific peptidase 31

Synonyms

6330567E21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL00657

Quality Score

Status

Chromosome

Chromosomal Location

121241244-121306476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121247454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1330 (S1330P)

Ref Sequence

ENSEMBL: ENSMUSP00000040037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046929]

AlphaFold

E9Q6Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000046929
AA Change: S1330P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040037
Gene: ENSMUSG00000063317
AA Change: S1330P

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
low complexity region	29	58	N/A	INTRINSIC
low complexity region	64	75	N/A	INTRINSIC
low complexity region	90	120	N/A	INTRINSIC
Pfam:UCH	122	755	2.5e-64	PFAM
Pfam:UCH_1	562	737	1.3e-12	PFAM
low complexity region	763	777	N/A	INTRINSIC
low complexity region	792	811	N/A	INTRINSIC
low complexity region	831	847	N/A	INTRINSIC
low complexity region	869	881	N/A	INTRINSIC
low complexity region	985	996	N/A	INTRINSIC
low complexity region	1009	1030	N/A	INTRINSIC
low complexity region	1044	1060	N/A	INTRINSIC
low complexity region	1072	1127	N/A	INTRINSIC
low complexity region	1161	1173	N/A	INTRINSIC
low complexity region	1192	1204	N/A	INTRINSIC
low complexity region	1245	1258	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cntnap2	A	G	6: 46,965,721 (GRCm39)	D844G	probably damaging	Het
Krt7	A	G	15: 101,324,966 (GRCm39)		probably benign	Het
Lrig2	T	C	3: 104,374,487 (GRCm39)	E556G	probably damaging	Het
Mettl15	A	G	2: 108,923,552 (GRCm39)	I290T	probably damaging	Het
Mysm1	T	C	4: 94,848,602 (GRCm39)	E477G	probably benign	Het
Nasp	T	C	4: 116,461,416 (GRCm39)	Y234C	probably damaging	Het
Nipal2	A	G	15: 34,600,224 (GRCm39)	Y198H	probably damaging	Het
Nup153	T	A	13: 46,834,626 (GRCm39)		probably benign	Het
Prdm1	A	G	10: 44,317,888 (GRCm39)	S327P	probably damaging	Het
Rhobtb1	C	A	10: 69,106,051 (GRCm39)	D267E	probably damaging	Het
Sec31a	G	A	5: 100,551,876 (GRCm39)	Q166*	probably null	Het
Sphkap	A	G	1: 83,254,096 (GRCm39)	C931R	probably damaging	Het
Sytl2	A	G	7: 90,050,618 (GRCm39)	R695G	probably benign	Het

Other mutations in Usp31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Usp31	APN	7	121,305,893 (GRCm39)	missense	probably damaging	1.00
IGL00421:Usp31	APN	7	121,247,873 (GRCm39)	missense	probably damaging	0.96
IGL01917:Usp31	APN	7	121,278,708 (GRCm39)	missense	probably benign	0.26
IGL02444:Usp31	APN	7	121,278,718 (GRCm39)	missense	probably damaging	1.00
IGL03090:Usp31	APN	7	121,278,753 (GRCm39)	splice site	probably benign
R0334:Usp31	UTSW	7	121,258,185 (GRCm39)	missense	probably damaging	0.99
R0945:Usp31	UTSW	7	121,269,476 (GRCm39)	missense	probably damaging	1.00
R1326:Usp31	UTSW	7	121,247,525 (GRCm39)	missense	probably damaging	1.00
R2116:Usp31	UTSW	7	121,247,919 (GRCm39)	missense	probably benign	0.39
R3113:Usp31	UTSW	7	121,278,736 (GRCm39)	missense	probably damaging	1.00
R4072:Usp31	UTSW	7	121,267,005 (GRCm39)	splice site	probably null
R4075:Usp31	UTSW	7	121,267,005 (GRCm39)	splice site	probably null
R4076:Usp31	UTSW	7	121,267,005 (GRCm39)	splice site	probably null
R4306:Usp31	UTSW	7	121,306,152 (GRCm39)	missense	possibly damaging	0.93
R4675:Usp31	UTSW	7	121,306,548 (GRCm39)	unclassified	probably benign
R4960:Usp31	UTSW	7	121,247,868 (GRCm39)	missense	probably damaging	0.99
R5368:Usp31	UTSW	7	121,260,588 (GRCm39)	missense	probably damaging	1.00
R5396:Usp31	UTSW	7	121,267,005 (GRCm39)	splice site	probably null
R5456:Usp31	UTSW	7	121,269,500 (GRCm39)	missense	probably damaging	1.00
R5475:Usp31	UTSW	7	121,250,749 (GRCm39)	missense	probably damaging	1.00
R5497:Usp31	UTSW	7	121,250,824 (GRCm39)	missense	probably damaging	1.00
R5872:Usp31	UTSW	7	121,248,698 (GRCm39)	missense	probably benign	0.05
R6301:Usp31	UTSW	7	121,247,499 (GRCm39)	missense	possibly damaging	0.76
R6688:Usp31	UTSW	7	121,277,553 (GRCm39)	missense	probably benign	0.01
R6875:Usp31	UTSW	7	121,248,863 (GRCm39)	nonsense	probably null
R6895:Usp31	UTSW	7	121,252,399 (GRCm39)	missense	probably benign	0.00
R7570:Usp31	UTSW	7	121,274,186 (GRCm39)	missense	probably damaging	1.00
R7633:Usp31	UTSW	7	121,258,185 (GRCm39)	missense	probably damaging	0.99
R7666:Usp31	UTSW	7	121,248,404 (GRCm39)	missense	possibly damaging	0.68
R7841:Usp31	UTSW	7	121,276,535 (GRCm39)	missense	probably damaging	0.96
R7841:Usp31	UTSW	7	121,247,679 (GRCm39)	missense	probably benign	0.00
R8013:Usp31	UTSW	7	121,248,480 (GRCm39)	missense	probably damaging	0.99
R8014:Usp31	UTSW	7	121,248,480 (GRCm39)	missense	probably damaging	0.99
R8118:Usp31	UTSW	7	121,276,485 (GRCm39)	missense	probably damaging	1.00
R8140:Usp31	UTSW	7	121,248,249 (GRCm39)	missense	possibly damaging	0.79
R9063:Usp31	UTSW	7	121,306,466 (GRCm39)	missense	probably benign
R9795:Usp31	UTSW	7	121,247,499 (GRCm39)	missense	probably benign	0.00
X0062:Usp31	UTSW	7	121,250,737 (GRCm39)	missense	possibly damaging	0.50

Posted On

2012-12-06