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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL01917

Quality Score

Status

Chromosome

Chromosomal Location

121642021-121707253 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121679485 bp (GRCm38)

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: 23,423,789	M15K	unknown	Het
Adal	A	G	2: 121,142,554	S31G	possibly damaging	Het
C2cd5	T	C	6: 143,072,596	Y300C	probably benign	Het
Chia1	T	A	3: 106,128,220	V184E	probably damaging	Het
Fat4	T	A	3: 38,889,730	V924D	possibly damaging	Het
Fstl5	A	T	3: 76,707,846	H738L	probably damaging	Het
Gimap4	T	C	6: 48,690,920	M75T	probably benign	Het
Gm10238	A	T	15: 75,237,712		noncoding transcript	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Gsdmc	A	G	15: 63,778,585	Y307H	probably benign	Het
Iqub	A	G	6: 24,479,319	L408P	probably damaging	Het
Lbx1	T	A	19: 45,234,213	K124*	probably null	Het
Naip2	C	A	13: 100,162,083	V482L	probably benign	Het
Olfr596	T	A	7: 103,310,357	L212*	probably null	Het
Pdcd11	C	A	19: 47,101,165	Q325K	possibly damaging	Het
Pik3c3	T	A	18: 30,274,446	S82R	probably damaging	Het
Pramef6	T	A	4: 143,897,714	E71V	probably benign	Het
Prickle1	T	C	15: 93,503,527	K359E	probably damaging	Het
Ptprj	A	G	2: 90,469,749	V236A	probably damaging	Het
Serpinb3d	T	A	1: 107,079,681	T192S	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Usp31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Usp31	APN	7	121706670	missense	probably damaging	1.00
IGL00421:Usp31	APN	7	121648650	missense	probably damaging	0.96
IGL00657:Usp31	APN	7	121648231	missense	probably benign	0.00
IGL02444:Usp31	APN	7	121679495	missense	probably damaging	1.00
IGL03090:Usp31	APN	7	121679530	splice site	probably benign
R0334:Usp31	UTSW	7	121658962	missense	probably damaging	0.99
R0945:Usp31	UTSW	7	121670253	missense	probably damaging	1.00
R1326:Usp31	UTSW	7	121648302	missense	probably damaging	1.00
R2116:Usp31	UTSW	7	121648696	missense	probably benign	0.39
R3113:Usp31	UTSW	7	121679513	missense	probably damaging	1.00
R4072:Usp31	UTSW	7	121667782	splice site	probably null
R4075:Usp31	UTSW	7	121667782	splice site	probably null
R4076:Usp31	UTSW	7	121667782	splice site	probably null
R4306:Usp31	UTSW	7	121706929	missense	possibly damaging	0.93
R4675:Usp31	UTSW	7	121707325	unclassified	probably benign
R4960:Usp31	UTSW	7	121648645	missense	probably damaging	0.99
R5368:Usp31	UTSW	7	121661365	missense	probably damaging	1.00
R5396:Usp31	UTSW	7	121667782	splice site	probably null
R5456:Usp31	UTSW	7	121670277	missense	probably damaging	1.00
R5475:Usp31	UTSW	7	121651526	missense	probably damaging	1.00
R5497:Usp31	UTSW	7	121651601	missense	probably damaging	1.00
R5872:Usp31	UTSW	7	121649475	missense	probably benign	0.05
R6301:Usp31	UTSW	7	121648276	missense	possibly damaging	0.76
R6688:Usp31	UTSW	7	121678330	missense	probably benign	0.01
R6875:Usp31	UTSW	7	121649640	nonsense	probably null
R6895:Usp31	UTSW	7	121653176	missense	probably benign	0.00
R7570:Usp31	UTSW	7	121674963	missense	probably damaging	1.00
R7633:Usp31	UTSW	7	121658962	missense	probably damaging	0.99
R7666:Usp31	UTSW	7	121649181	missense	possibly damaging	0.68
R7841:Usp31	UTSW	7	121648456	missense	probably benign	0.00
R7841:Usp31	UTSW	7	121677312	missense	probably damaging	0.96
R8013:Usp31	UTSW	7	121649257	missense	probably damaging	0.99
R8014:Usp31	UTSW	7	121649257	missense	probably damaging	0.99
R8118:Usp31	UTSW	7	121677262	missense	probably damaging	1.00
R8140:Usp31	UTSW	7	121649026	missense	possibly damaging	0.79
R9063:Usp31	UTSW	7	121707243	missense	probably benign
R9795:Usp31	UTSW	7	121648276	missense	probably benign	0.00
X0062:Usp31	UTSW	7	121651514	missense	possibly damaging	0.50

Posted On

2014-05-07