Mutagenetix > Incidental Mutation

Incidental Mutation 'R3113:Usp31'

263878

Institutional Source

Beutler Lab

Gene Symbol

Usp31

Ensembl Gene

ENSMUSG00000063317

Gene Name

ubiquitin specific peptidase 31

Synonyms

6330567E21Rik

MMRRC Submission

040586-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R3113 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121241244-121306476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121278736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 210 (S210P)

Ref Sequence

ENSEMBL: ENSMUSP00000040037 (fasta)

Gene Model

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

AlphaFold

E9Q6Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000046929
AA Change: S210P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040037
Gene: ENSMUSG00000063317
AA Change: S210P

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

Meta Mutation Damage Score

0.7407

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,372 (GRCm39)	Y248*	probably null	Het
Acta2	T	C	19: 34,220,752 (GRCm39)	I319V	probably benign	Het
Alox15	A	T	11: 70,235,703 (GRCm39)	N585K	probably benign	Het
Ank	T	A	15: 27,571,700 (GRCm39)	I324N	probably damaging	Het
Ank1	A	G	8: 23,574,813 (GRCm39)	N99D	probably damaging	Het
As3mt	T	C	19: 46,703,717 (GRCm39)		probably benign	Het
Atg4b	C	T	1: 93,703,426 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,047,541 (GRCm39)	V705D	probably damaging	Het
Bves	T	C	10: 45,219,148 (GRCm39)	V82A	probably benign	Het
Cad	C	A	5: 31,231,481 (GRCm39)	H7Q	possibly damaging	Het
Carmil1	A	G	13: 24,253,740 (GRCm39)	V387A	probably benign	Het
Csnk2a1	T	A	2: 152,105,134 (GRCm39)	F181Y	probably damaging	Het
Cwc22	A	T	2: 77,754,823 (GRCm39)		probably benign	Het
Ddx18	A	G	1: 121,493,877 (GRCm39)	S36P	possibly damaging	Het
Dnai2	T	A	11: 114,642,756 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,769,008 (GRCm39)	M765K	probably benign	Het
Fitm2	T	C	2: 163,311,511 (GRCm39)	Y234C	probably damaging	Het
Flrt3	T	C	2: 140,503,454 (GRCm39)	E58G	probably benign	Het
Foxs1	A	G	2: 152,774,156 (GRCm39)	V299A	probably benign	Het
Galnt12	A	G	4: 47,108,415 (GRCm39)	N184S	probably benign	Het
Gata6	T	C	18: 11,063,124 (GRCm39)	L464P	probably damaging	Het
Gm17332	T	C	11: 31,132,384 (GRCm39)	T27A	possibly damaging	Het
Ifna11	A	C	4: 88,738,220 (GRCm39)	M9L	probably benign	Het
Ldb3	T	A	14: 34,251,418 (GRCm39)	*623L	probably null	Het
Lrrc27	A	G	7: 138,798,223 (GRCm39)	D106G	probably damaging	Het
Ly6f	A	G	15: 75,143,577 (GRCm39)	N95D	probably benign	Het
Lyst	A	G	13: 13,844,512 (GRCm39)	I1901V	probably benign	Het
Mboat2	A	G	12: 24,932,718 (GRCm39)	Y70C	probably damaging	Het
Mmut	G	A	17: 41,269,247 (GRCm39)	G610D	probably damaging	Het
Mroh1	T	A	15: 76,292,736 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,399,871 (GRCm39)	H448R	unknown	Het
Myh2	A	G	11: 67,076,012 (GRCm39)	N733S	probably damaging	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Nlrp1a	A	T	11: 71,014,491 (GRCm39)	I253N	probably damaging	Het
Ocrl	A	G	X: 47,022,304 (GRCm39)	E258G	probably benign	Het
Or2w1	T	A	13: 21,317,299 (GRCm39)	M118K	probably damaging	Het
Or6c2	A	T	10: 129,363,012 (GRCm39)	R305S	probably benign	Het
Pak1	C	A	7: 97,515,321 (GRCm39)	S115*	probably null	Het
Pilrb1	C	T	5: 137,853,195 (GRCm39)	V203I	possibly damaging	Het
Ppfia2	T	A	10: 106,742,256 (GRCm39)	Y1016*	probably null	Het
Prmt3	C	A	7: 49,431,760 (GRCm39)	P121Q	probably damaging	Het
Rhox6	T	A	X: 36,916,507 (GRCm39)	I116N	possibly damaging	Het
Saxo2	A	C	7: 82,292,949 (GRCm39)	F49L	probably benign	Het
Scn2a	A	C	2: 65,579,129 (GRCm39)	D1488A	possibly damaging	Het
Scn5a	T	A	9: 119,314,738 (GRCm39)	D1989V	probably damaging	Het
Sec31b	C	A	19: 44,506,624 (GRCm39)	E905*	probably null	Het
Secisbp2l	A	T	2: 125,592,206 (GRCm39)	F672I	probably damaging	Het
Slc22a23	C	T	13: 34,367,058 (GRCm39)	G650E	probably damaging	Het
Smu1	A	G	4: 40,748,658 (GRCm39)	F211L	probably benign	Het
Spef1l	G	T	7: 139,555,878 (GRCm39)		probably benign	Het
Tab1	C	T	15: 80,032,461 (GRCm39)	L23F	probably benign	Het
Thsd7b	G	A	1: 129,977,599 (GRCm39)	C1078Y	probably benign	Het
Ttn	A	T	2: 76,644,542 (GRCm39)	Y13071N	probably damaging	Het
Usp17ld	A	G	7: 102,899,870 (GRCm39)	V354A	probably benign	Het
Wdr12	T	C	1: 60,126,221 (GRCm39)	D198G	probably benign	Het
Wrap53	A	G	11: 69,454,144 (GRCm39)	V298A	probably benign	Het
Xirp2	A	G	2: 67,340,491 (GRCm39)	I911V	probably benign	Het
Zcchc2	T	C	1: 105,918,752 (GRCm39)	M78T	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- AGAAGCCCAGGGAATATTTGTG -3'
(R):5'- GTATCACAGCTAAGAAGTATCTTGC -3'

Sequencing Primer
(F):5'- CAGGGAATATTTGTGAGAAGACTTCC -3'
(R):5'- GCTAAGAAGTATCTTGCTGTTGAC -3'

Posted On

2015-02-05