Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01917:Usp31'

179987

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 #

IGL01917

Quality Score

Status

Chromosome

Chromosomal Location

121241244-121306476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121278708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 219 (N219S)

Ref Sequence

ENSEMBL: ENSMUSP00000040037 (fasta)

Gene Model

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

AlphaFold

E9Q6Y8

Predicted Effect

probably benign
Transcript: ENSMUST00000046929
AA Change: N219S

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000040037
Gene: ENSMUSG00000063317
AA Change: N219S

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	A	T	13: 23,607,959 (GRCm39)	M15K	unknown	Het
Adal	A	G	2: 120,973,035 (GRCm39)	S31G	possibly damaging	Het
C2cd5	T	C	6: 143,018,322 (GRCm39)	Y300C	probably benign	Het
Chia1	T	A	3: 106,035,536 (GRCm39)	V184E	probably damaging	Het
Fat4	T	A	3: 38,943,879 (GRCm39)	V924D	possibly damaging	Het
Fstl5	A	T	3: 76,615,153 (GRCm39)	H738L	probably damaging	Het
Gimap4	T	C	6: 48,667,854 (GRCm39)	M75T	probably benign	Het
Gm10238	A	T	15: 75,109,561 (GRCm39)		noncoding transcript	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Gsdmc	A	G	15: 63,650,434 (GRCm39)	Y307H	probably benign	Het
Iqub	A	G	6: 24,479,318 (GRCm39)	L408P	probably damaging	Het
Lbx1	T	A	19: 45,222,652 (GRCm39)	K124*	probably null	Het
Naip2	C	A	13: 100,298,591 (GRCm39)	V482L	probably benign	Het
Or52e19	T	A	7: 102,959,564 (GRCm39)	L212*	probably null	Het
Pdcd11	C	A	19: 47,089,604 (GRCm39)	Q325K	possibly damaging	Het
Pik3c3	T	A	18: 30,407,499 (GRCm39)	S82R	probably damaging	Het
Pramel11	T	A	4: 143,624,284 (GRCm39)	E71V	probably benign	Het
Prickle1	T	C	15: 93,401,408 (GRCm39)	K359E	probably damaging	Het
Ptprj	A	G	2: 90,300,093 (GRCm39)	V236A	probably damaging	Het
Serpinb3d	T	A	1: 107,007,411 (GRCm39)	T192S	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	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
IGL00657:Usp31	APN	7	121,247,454 (GRCm39)	missense	probably benign	0.00
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

2014-05-07