Mutagenetix > Incidental Mutation

Incidental Mutation 'R8014:Usp31'

617069

Institutional Source

Beutler Lab

Gene Symbol

Usp31

Ensembl Gene

ENSMUSG00000063317

Gene Name

ubiquitin specific peptidase 31

Synonyms

6330567E21Rik

MMRRC Submission

067454-MU

Accession Numbers

Essential gene?

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

Stock #

R8014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121241244-121306476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121248480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 988 (S988G)

Ref Sequence

ENSEMBL: ENSMUSP00000040037 (fasta)

Gene Model

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

AlphaFold

E9Q6Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000046929
AA Change: S988G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040037
Gene: ENSMUSG00000063317
AA Change: S988G

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	C	A	15: 12,824,615 (GRCm39)	D7Y	probably benign	Het
Aff1	A	G	5: 103,981,735 (GRCm39)	T625A	possibly damaging	Het
Aldh8a1	T	C	10: 21,265,201 (GRCm39)	V276A	probably benign	Het
Alkbh3	T	C	2: 93,831,858 (GRCm39)	D124G	probably benign	Het
Apob	T	A	12: 8,060,798 (GRCm39)	N3093K	possibly damaging	Het
Atp13a1	C	T	8: 70,252,429 (GRCm39)	R608*	probably null	Het
Bbs7	A	T	3: 36,648,536 (GRCm39)	I404K	probably damaging	Het
Cacna2d1	A	T	5: 16,547,689 (GRCm39)	T647S	possibly damaging	Het
Carmil1	T	C	13: 24,220,304 (GRCm39)	E1140G	possibly damaging	Het
Ccdc158	C	A	5: 92,796,889 (GRCm39)	E482D	probably damaging	Het
Ccdc92	A	T	5: 124,913,090 (GRCm39)	H146Q	probably damaging	Het
Cntnap4	T	A	8: 113,480,577 (GRCm39)	N341K	probably damaging	Het
Cog1	A	G	11: 113,546,990 (GRCm39)	D528G	probably damaging	Het
Cttnbp2	G	C	6: 18,426,092 (GRCm39)	A762G	possibly damaging	Het
D130043K22Rik	A	T	13: 25,040,685 (GRCm39)	I36F	probably damaging	Het
Dis3	T	A	14: 99,314,835 (GRCm39)	R954W	possibly damaging	Het
Eef1ece2	A	T	16: 20,461,067 (GRCm39)	T618S	probably benign	Het
Ext1	T	C	15: 52,939,283 (GRCm39)	I589V	possibly damaging	Het
Fam20a	T	A	11: 109,576,332 (GRCm39)	E142D	possibly damaging	Het
Fars2	C	T	13: 36,389,068 (GRCm39)	Q186*	probably null	Het
Fcgbpl1	G	A	7: 27,836,966 (GRCm39)	R295H	probably benign	Het
Fhdc1	A	T	3: 84,381,946 (GRCm39)	M1K	probably null	Het
Gars1	T	A	6: 55,050,392 (GRCm39)	F551Y	probably benign	Het
Gm28363	A	G	1: 117,654,534 (GRCm39)	R58G	probably benign	Het
Gm8356	A	T	14: 17,692,450 (GRCm39)	N58K	probably damaging	Het
Gm9758	A	G	5: 14,961,454 (GRCm39)	V175A	possibly damaging	Het
Gpr182	T	C	10: 127,586,874 (GRCm39)	T26A	possibly damaging	Het
Gpr19	A	G	6: 134,846,436 (GRCm39)	Y416H	probably damaging	Het
Hrob	A	G	11: 102,148,725 (GRCm39)	N379D	probably benign	Het
Itgb7	T	A	15: 102,131,087 (GRCm39)	S322C	probably damaging	Het
Kcnma1	T	A	14: 23,423,211 (GRCm39)	I831F	probably benign	Het
Lrba	A	T	3: 86,325,278 (GRCm39)	D1912V	probably damaging	Het
Macf1	T	A	4: 123,420,619 (GRCm39)	T212S	probably benign	Het
Map3k4	A	T	17: 12,489,918 (GRCm39)	C504*	probably null	Het
Morc2a	T	C	11: 3,627,419 (GRCm39)	S281P	probably damaging	Het
Muc16	T	C	9: 18,566,171 (GRCm39)	H2116R	unknown	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Omg	T	C	11: 79,393,729 (GRCm39)	D43G	possibly damaging	Het
Or13c7	T	A	4: 43,854,958 (GRCm39)	F216L	probably benign	Het
Or2ag15	C	T	7: 106,340,824 (GRCm39)	V106I	probably benign	Het
Or4c122	T	A	2: 89,079,343 (GRCm39)	I220F	probably damaging	Het
Or4c3	C	A	2: 89,852,087 (GRCm39)	V108F	possibly damaging	Het
Or5b3	A	T	19: 13,388,175 (GRCm39)	T81S	not run	Het
Or5w22	A	T	2: 87,362,508 (GRCm39)	M44L	probably benign	Het
Pdia6	T	C	12: 17,323,966 (GRCm39)	L66S	probably damaging	Het
Pds5a	A	G	5: 65,785,082 (GRCm39)	I930T	possibly damaging	Het
Piezo2	C	T	18: 63,216,271 (GRCm39)	G1169S	probably benign	Het
Pkhd1	A	G	1: 20,579,115 (GRCm39)		probably null	Het
Plekhg1	A	T	10: 3,907,758 (GRCm39)	R947W		Het
Ptprs	A	C	17: 56,742,994 (GRCm39)	S383A	probably damaging	Het
Rin3	T	A	12: 102,327,630 (GRCm39)	L193*	probably null	Het
Sgsh	A	G	11: 119,243,521 (GRCm39)	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,218,794 (GRCm39)	Y465C	probably damaging	Het
Stab2	C	A	10: 86,686,767 (GRCm39)	S2259I	possibly damaging	Het
Tbc1d24	G	A	17: 24,401,795 (GRCm39)	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,200,319 (GRCm39)	I99V	probably benign	Het
Tmem108	A	T	9: 103,376,606 (GRCm39)	I281N	probably benign	Het
Usp44	G	T	10: 93,688,571 (GRCm39)		probably null	Het
Zbtb26	T	A	2: 37,327,013 (GRCm39)		probably null	Het
Zfp599	A	G	9: 22,160,777 (GRCm39)	Y463H	probably benign	Het
Zfp750	T	A	11: 121,403,843 (GRCm39)	D344V	possibly damaging	Het
Zmym5	T	A	14: 57,031,883 (GRCm39)	K408N	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGAAGATTCCTGGCTAGCC -3'
(R):5'- GTAGTCACCAGGAACCAAGTGAC -3'

Sequencing Primer
(F):5'- AGTGCCTTTGGAACTAGG -3'
(R):5'- TGACAGTCACAATAGACGAGAGCAC -3'

Posted On

2020-01-23