Mutagenetix > Incidental Mutation

Incidental Mutation 'R4072:Usp31'

316343

Institutional Source

Beutler Lab

Gene Symbol

Usp31

Ensembl Gene

ENSMUSG00000063317

Gene Name

ubiquitin specific peptidase 31

Synonyms

MMRRC Submission

040854-MU

Accession Numbers

Essential gene?

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

Stock #

R4072 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

121642021-121707253 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 121667782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040037 (fasta)

Gene Model

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

AlphaFold

E9Q6Y8

Predicted Effect

probably null
Transcript: ENSMUST00000046929

SMART Domains

Protein: ENSMUSP00000040037
Gene: ENSMUSG00000063317

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205473

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,945,361		probably null	Het
Abcc5	A	G	16: 20,333,695	I1367T	probably damaging	Het
Acsm4	T	A	7: 119,698,758	L206H	probably benign	Het
Acss3	C	T	10: 107,123,585		probably benign	Het
Ankar	G	T	1: 72,688,592	D169E	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atp4a	T	C	7: 30,715,332	I182T	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Baz1a	A	G	12: 54,941,560	I268T	probably benign	Het
Baz2b	A	T	2: 59,912,573		probably null	Het
C2cd4d	C	A	3: 94,363,878	C150*	probably null	Het
Crtac1	T	C	19: 42,304,707	Y321C	probably damaging	Het
Dnah11	T	C	12: 118,106,492	H1526R	probably damaging	Het
Dnah5	A	T	15: 28,340,298	R2284*	probably null	Het
Dnah9	T	C	11: 66,084,904	T1440A	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ercc4	G	A	16: 13,130,685	V499I	probably damaging	Het
Eva1c	T	A	16: 90,904,131	F331Y	probably damaging	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Galntl5	A	T	5: 25,198,480	K150*	probably null	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm19965	A	G	1: 116,821,071	T161A	probably benign	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Hydin	G	A	8: 110,505,256	E1617K	possibly damaging	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,700,716	L239P	possibly damaging	Het
Nlrp4c	A	G	7: 6,072,710	K667E	probably benign	Het
Obox3	G	T	7: 15,625,799	T315N	possibly damaging	Het
Obscn	A	G	11: 58,997,183	I7652T	unknown	Het
Olfr1469	G	A	19: 13,410,935	R122H	possibly damaging	Het
Olfr52	T	A	2: 86,181,647	M155L	probably benign	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde7a	G	A	3: 19,256,853	R70C	probably damaging	Het
Pidd1	A	G	7: 141,440,826	F453L	probably damaging	Het
Pms2	T	C	5: 143,929,001	I742T	probably damaging	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Rp1l1	A	T	14: 64,028,132	E389V	probably damaging	Het
Scnn1a	A	G	6: 125,338,907	N407S	probably damaging	Het
Slc30a7	T	C	3: 115,946,680	D374G	probably damaging	Het
Slco2a1	T	A	9: 103,068,002	I192N	probably damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tox	T	C	4: 6,842,396	T45A	probably damaging	Het
Vwc2	T	A	11: 11,116,446	L178Q	probably damaging	Het
Zbbx	C	T	3: 75,105,671	G151E	probably damaging	Het
Zbtb11	C	T	16: 55,998,064	T617I	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
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

Predicted Primers

PCR Primer
(F):5'- AGCCTTGGACAGAAGTTGGG -3'
(R):5'- CTCATTAAAGACTTTCTGATGGGGAAC -3'

Sequencing Primer
(F):5'- GGGGAAAGAATAATAAACTCCTTCAG -3'
(R):5'- CTGATGGGGAACTATAAAGATTTCCC -3'

Posted On

2015-05-15