Mutagenetix > Incidental Mutation

Incidental Mutation 'R5368:Usp31'

429480

Institutional Source

Beutler Lab

Gene Symbol

Usp31

Ensembl Gene

ENSMUSG00000063317

Gene Name

ubiquitin specific peptidase 31

Synonyms

6330567E21Rik

MMRRC Submission

043204-MU

Accession Numbers

Essential gene?

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

Stock #

R5368 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121241244-121306476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121260588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 637 (H637R)

Ref Sequence

ENSEMBL: ENSMUSP00000040037 (fasta)

Gene Model

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

AlphaFold

E9Q6Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000046929
AA Change: H637R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040037
Gene: ENSMUSG00000063317
AA Change: H637R

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

Meta Mutation Damage Score

0.9454

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	A	7: 130,740,925 (GRCm39)	H97L	possibly damaging	Het
Abca9	T	A	11: 110,036,372 (GRCm39)	N579I	probably damaging	Het
Acbd3	A	T	1: 180,549,660 (GRCm39)		probably benign	Het
Ankrd50	A	T	3: 38,509,199 (GRCm39)	I1056N	probably damaging	Het
Ceacam18	T	C	7: 43,291,458 (GRCm39)	V300A	probably benign	Het
Cfap46	C	A	7: 139,207,389 (GRCm39)	R1843S	possibly damaging	Het
D430041D05Rik	A	G	2: 104,078,629 (GRCm39)	V1229A	probably damaging	Het
Dbx2	G	A	15: 95,538,522 (GRCm39)	S206L	probably benign	Het
Dnah11	A	T	12: 117,918,628 (GRCm39)	D1530E	probably damaging	Het
Ecm2	A	C	13: 49,674,419 (GRCm39)	T280P	probably benign	Het
Emc2	G	A	15: 43,375,207 (GRCm39)		probably null	Het
Epb42	C	T	2: 120,849,943 (GRCm39)	V689I	probably benign	Het
Fam114a1	T	A	5: 65,163,452 (GRCm39)	M209K	possibly damaging	Het
Fam117a	C	T	11: 95,266,459 (GRCm39)	S193F	probably damaging	Het
Foxp2	A	T	6: 15,377,913 (GRCm39)		probably benign	Het
Frmd6	T	A	12: 70,910,874 (GRCm39)	C19*	probably null	Het
Fyb1	A	G	15: 6,610,159 (GRCm39)		probably null	Het
Gata6	C	A	18: 11,063,059 (GRCm39)	H442Q	possibly damaging	Het
Gldc	A	G	19: 30,135,921 (GRCm39)	S160P	probably benign	Het
Gm3952	A	G	8: 129,472,455 (GRCm39)	S1626P	possibly damaging	Het
Gm9762	T	A	3: 78,873,742 (GRCm39)		noncoding transcript	Het
Gtpbp2	T	C	17: 46,477,230 (GRCm39)		probably benign	Het
Hgd	A	T	16: 37,410,113 (GRCm39)	T50S	probably benign	Het
Itpr1	C	T	6: 108,364,459 (GRCm39)	T22M	probably damaging	Het
Kif26b	G	A	1: 178,743,449 (GRCm39)	E1182K	probably damaging	Het
Kirrel3	A	G	9: 34,919,034 (GRCm39)	E230G	probably damaging	Het
Leng8	A	G	7: 4,142,987 (GRCm39)	Y88C	probably damaging	Het
Lpo	T	C	11: 87,711,895 (GRCm39)	D54G	possibly damaging	Het
Lypd2	G	T	15: 74,604,908 (GRCm39)	A29E	probably benign	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mical3	T	C	6: 120,936,434 (GRCm39)	Y1364C	probably damaging	Het
Mroh2b	A	G	15: 4,935,054 (GRCm39)	N163S	probably damaging	Het
Mtf1	G	A	4: 124,718,872 (GRCm39)	C295Y	probably damaging	Het
Nbn	T	A	4: 15,969,391 (GRCm39)	L212Q	probably damaging	Het
Obscn	A	T	11: 58,959,852 (GRCm39)		probably null	Het
Or10ag56	T	A	2: 87,139,126 (GRCm39)		probably null	Het
Or4c110	A	G	2: 88,832,435 (GRCm39)	S66P	probably damaging	Het
Peli1	A	G	11: 21,098,389 (GRCm39)	T375A	probably damaging	Het
Picalm	T	C	7: 89,856,803 (GRCm39)	*611Q	probably null	Het
Plch1	G	T	3: 63,609,394 (GRCm39)	Q938K	possibly damaging	Het
Plxnb2	A	G	15: 89,043,796 (GRCm39)	V1352A	possibly damaging	Het
Pmepa1	G	A	2: 173,070,115 (GRCm39)	R147W	probably damaging	Het
Prdm16	T	G	4: 154,429,848 (GRCm39)	K373Q	probably damaging	Het
Qki	T	G	17: 10,457,964 (GRCm39)	E135A	probably damaging	Het
Rad50	T	C	11: 53,575,073 (GRCm39)	K556E	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sin3a	T	A	9: 57,018,084 (GRCm39)	D834E	possibly damaging	Het
Smg8	G	A	11: 86,971,086 (GRCm39)	S895L	probably benign	Het
Sorl1	T	C	9: 41,890,686 (GRCm39)	I1944M	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tmprss7	A	T	16: 45,481,252 (GRCm39)	W645R	probably damaging	Het
Tns1	T	C	1: 73,980,176 (GRCm39)	M1111V	probably benign	Het
Ttn	A	C	2: 76,608,726 (GRCm39)	D17763E	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubr4	G	A	4: 139,124,839 (GRCm39)		probably benign	Het
Vps50	A	C	6: 3,567,739 (GRCm39)	E545A	possibly damaging	Het
Wdfy3	G	T	5: 102,020,724 (GRCm39)	L2527M	probably damaging	Het
Wfdc2	T	C	2: 164,405,354 (GRCm39)	V85A	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
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'- TACAGATAGGCTCGGTCAAACATG -3'
(R):5'- CTCCTGTGCAGTTTCCAGAGAG -3'

Sequencing Primer
(F):5'- GCTCGGTCAAACATGTATGGACAC -3'
(R):5'- TGCAGTTTCCAGAGAGATGCC -3'

Posted On

2016-09-06