Mutagenetix > Incidental Mutation

Incidental Mutation 'R8140:Usp31'

632480

Institutional Source

Beutler Lab

Gene Symbol

Usp31

Ensembl Gene

ENSMUSG00000063317

Gene Name

ubiquitin specific peptidase 31

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121642021-121707253 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121649026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 1065 (R1065S)

Ref Sequence

ENSEMBL: ENSMUSP00000040037 (fasta)

Gene Model

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

AlphaFold

E9Q6Y8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046929
AA Change: R1065S

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040037
Gene: ENSMUSG00000063317
AA Change: R1065S

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

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,611	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,572,715		probably null	Het
Atp7b	C	A	8: 22,028,560	E87D	probably damaging	Het
Bcat2	C	T	7: 45,588,351	P347L	probably damaging	Het
Brox	A	T	1: 183,293,873		probably null	Het
Cd37	A	G	7: 45,238,535	I58T	probably damaging	Het
Cep295	A	T	9: 15,341,533	M333K	probably benign	Het
Chtop	A	G	3: 90,505,393		probably null	Het
Cpa2	A	T	6: 30,544,905	K54N	probably benign	Het
Cpa6	A	G	1: 10,325,294	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,501,589	I2542N	probably benign	Het
Eif5b	G	A	1: 38,051,276	V1179I	probably benign	Het
Erbin	T	C	13: 103,920,294		probably null	Het
Fastkd5	A	T	2: 130,615,250	D473E	possibly damaging	Het
Fchsd1	T	C	18: 37,964,342	E372G	probably damaging	Het
Fgl1	T	C	8: 41,200,609		probably null	Het
Fzd8	T	G	18: 9,213,797	V293G	probably damaging	Het
Gm4787	T	A	12: 81,378,151	H411L	probably benign	Het
Gm49380	G	T	9: 44,111,972	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,135,290	R240C	probably damaging	Het
Hdac5	A	T	11: 102,197,355	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,383,871	S301G	probably benign	Het
Htra4	A	T	8: 25,030,558	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,583,741	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,995,541	I751T	probably damaging	Het
Magi3	T	C	3: 104,034,086	Y851C	probably damaging	Het
Mefv	A	G	16: 3,713,635	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,949,298	V397I	probably benign	Het
Mroh1	C	A	15: 76,433,873	H867N	probably benign	Het
Mthfd1l	C	T	10: 4,007,745	R261*	probably null	Het
Myo3a	A	G	2: 22,407,346	I725M	probably damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,392,957	P22Q	probably damaging	Het
Olfr1179	T	C	2: 88,402,113	T274A	possibly damaging	Het
Olfr1497	A	T	19: 13,795,239	V124E	possibly damaging	Het
Olfr178	T	C	16: 58,889,585	T212A	probably benign	Het
Peg10	C	G	6: 4,756,113	Q230E	unknown	Het
Pipox	T	C	11: 77,883,909	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,047,497	R993H	probably benign	Het
Pkdrej	A	C	15: 85,818,410	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,746,376	R291Q	probably benign	Het
Pomt1	T	A	2: 32,244,297	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,299,235	S78P	probably damaging	Het
Rgl1	A	T	1: 152,557,501	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,601,774	E14G	unknown	Het
Sh3rf3	T	A	10: 59,049,355	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,322,259	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,488,690	D274E	probably damaging	Het
Syne2	T	A	12: 75,912,353	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,895,176	D2170A	probably damaging	Het
Tnr	A	G	1: 159,863,695	T472A	probably damaging	Het
Tspan9	T	C	6: 127,965,278	H203R	probably damaging	Het
Ttn	T	C	2: 76,771,651	T18556A	possibly damaging	Het
Usp25	T	A	16: 77,071,681	Y323*	probably null	Het
Vmn2r103	A	T	17: 19,811,796	T611S	probably damaging	Het
Wdfy4	A	G	14: 33,142,360	V552A		Het
Zap70	G	T	1: 36,771,181	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,632,749	S91T	possibly damaging	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
IGL01917:Usp31	APN	7	121679485	missense	probably benign	0.26
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCCTGCTCTTCCCAGAAG -3'
(R):5'- TTCTCTCACAAAGAAGCCAGAG -3'

Sequencing Primer
(F):5'- GTGACAGGGCTTGGGGC -3'
(R):5'- TCTCACAAAGAAGCCAGAGAGCAC -3'

Posted On

2020-06-30