Mutagenetix > Incidental Mutation

Incidental Mutation 'R6625:Usp40'

524707

Institutional Source

Beutler Lab

Gene Symbol

Usp40

Ensembl Gene

ENSMUSG00000005501

Gene Name

ubiquitin specific peptidase 40

Synonyms

B230215L03Rik

MMRRC Submission

044747-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6625 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87872841-87936273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87894935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 862 (I862V)

Ref Sequence

ENSEMBL: ENSMUSP00000140107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040783] [ENSMUST00000187758] [ENSMUST00000188332]

AlphaFold

Q8BWR4

Predicted Effect

probably benign
Transcript: ENSMUST00000040783

SMART Domains

Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501

Domain	Start	End	E-Value	Type
Pfam:UCH	40	344	1.1e-31	PFAM
Pfam:UCH_1	41	320	1.2e-20	PFAM
low complexity region	641	650	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187758
AA Change: I862V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: I862V

Domain	Start	End	E-Value	Type
Pfam:UCH	40	346	8.7e-41	PFAM
Pfam:UCH_1	41	319	2.4e-22	PFAM
low complexity region	641	650	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188332

SMART Domains

Protein: ENSMUSP00000140574
Gene: ENSMUSG00000005501

Domain	Start	End	E-Value	Type
Pfam:UCH	40	70	5.9e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190446

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

91% (30/33)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]

Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Apcdd1	C	A	18: 63,084,929 (GRCm39)	D375E	probably damaging	Het
Cacna2d1	A	T	5: 16,567,391 (GRCm39)	R984W	probably null	Het
Csmd3	T	G	15: 47,470,471 (GRCm39)	I3402L	probably benign	Het
Dnah7a	T	A	1: 53,604,916 (GRCm39)	T1281S	probably benign	Het
Dnmt3b	T	C	2: 153,507,233 (GRCm39)	I139T	probably benign	Het
Dtnbp1	T	C	13: 45,145,507 (GRCm39)	E40G	possibly damaging	Het
Fam162b	C	T	10: 51,466,391 (GRCm39)	G43R	probably damaging	Het
G2e3	T	G	12: 51,400,572 (GRCm39)		probably null	Het
Kiss1r	G	A	10: 79,755,368 (GRCm39)	V118I	possibly damaging	Het
Mre11a	T	C	9: 14,716,687 (GRCm39)	M294T	possibly damaging	Het
Muc16	A	T	9: 18,571,574 (GRCm39)	V315D	unknown	Het
Nelfe	C	T	17: 35,073,334 (GRCm39)	P290S	probably benign	Het
Or2v2	T	A	11: 49,003,896 (GRCm39)	Y219F	probably damaging	Het
Or5a3	T	G	19: 12,400,205 (GRCm39)	H177Q	probably damaging	Het
Pcolce2	T	A	9: 95,560,492 (GRCm39)	C180*	probably null	Het
Piezo2	A	T	18: 63,154,333 (GRCm39)	V2482D	probably damaging	Het
Plagl1	T	C	10: 13,003,806 (GRCm39)		probably benign	Het
Pramel31	T	A	4: 144,090,369 (GRCm39)	Y470N	probably damaging	Het
Pramel57	C	T	5: 95,669,342 (GRCm39)	H124Y	possibly damaging	Het
Prss48	G	T	3: 85,905,373 (GRCm39)	Q167K	probably benign	Het
Saxo4	G	A	19: 10,459,100 (GRCm39)	P65L	probably damaging	Het
Scyl1	C	A	19: 5,810,854 (GRCm39)	V488F	probably damaging	Het
Sh3pxd2b	T	A	11: 32,372,594 (GRCm39)	L587Q	possibly damaging	Het
Sim1	A	G	10: 50,860,082 (GRCm39)	D648G	probably benign	Het
Snupn	G	A	9: 56,890,054 (GRCm39)	V292I	probably benign	Het
St6galnac1	T	C	11: 116,656,717 (GRCm39)	H474R	probably damaging	Het
Thap12	G	A	7: 98,365,277 (GRCm39)	V482I	probably benign	Het
Usp13	T	A	3: 32,949,025 (GRCm39)	V454D	probably damaging	Het
Vmn2r59	A	T	7: 41,693,177 (GRCm39)	F474L	probably benign	Het
Zbtb38	T	C	9: 96,569,366 (GRCm39)	R573G	probably damaging	Het
Zfp493	C	T	13: 67,934,514 (GRCm39)	Q156*	probably null	Het
Zfp873	C	A	10: 81,896,138 (GRCm39)	P290T	probably damaging	Het

Other mutations in Usp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Usp40	APN	1	87,931,960 (GRCm39)	splice site	probably benign
IGL00828:Usp40	APN	1	87,906,028 (GRCm39)	unclassified	probably benign
IGL01090:Usp40	APN	1	87,890,187 (GRCm39)	missense	probably benign	0.01
IGL01123:Usp40	APN	1	87,913,845 (GRCm39)	missense	probably benign	0.01
IGL01401:Usp40	APN	1	87,921,920 (GRCm39)	missense	probably damaging	1.00
IGL02506:Usp40	APN	1	87,909,738 (GRCm39)	missense	probably damaging	0.98
IGL02580:Usp40	APN	1	87,908,688 (GRCm39)	splice site	probably null
IGL02625:Usp40	APN	1	87,877,739 (GRCm39)	missense	probably benign	0.19
IGL02811:Usp40	APN	1	87,923,458 (GRCm39)	missense	probably damaging	1.00
IGL02958:Usp40	APN	1	87,906,207 (GRCm39)	missense	probably damaging	0.99
Brink	UTSW	1	87,908,755 (GRCm39)	missense	probably benign	0.11
void	UTSW	1	87,923,435 (GRCm39)	nonsense	probably null
G5030:Usp40	UTSW	1	87,921,941 (GRCm39)	missense	probably damaging	1.00
R0019:Usp40	UTSW	1	87,906,133 (GRCm39)	missense	probably benign	0.00
R0282:Usp40	UTSW	1	87,908,680 (GRCm39)	splice site	probably benign
R0453:Usp40	UTSW	1	87,874,320 (GRCm39)	makesense	probably null
R0646:Usp40	UTSW	1	87,906,244 (GRCm39)	missense	probably benign	0.00
R1440:Usp40	UTSW	1	87,909,808 (GRCm39)	missense	probably benign	0.01
R1490:Usp40	UTSW	1	87,916,687 (GRCm39)	nonsense	probably null
R1620:Usp40	UTSW	1	87,921,947 (GRCm39)	missense	probably damaging	1.00
R1881:Usp40	UTSW	1	87,921,993 (GRCm39)	missense	probably benign	0.08
R1903:Usp40	UTSW	1	87,909,778 (GRCm39)	missense	probably benign	0.15
R1912:Usp40	UTSW	1	87,874,368 (GRCm39)	missense	probably benign	0.00
R1919:Usp40	UTSW	1	87,923,564 (GRCm39)	missense	possibly damaging	0.75
R1976:Usp40	UTSW	1	87,906,258 (GRCm39)	missense	probably benign	0.00
R2111:Usp40	UTSW	1	87,877,936 (GRCm39)	missense	probably benign	0.17
R2112:Usp40	UTSW	1	87,877,936 (GRCm39)	missense	probably benign	0.17
R2163:Usp40	UTSW	1	87,923,580 (GRCm39)	splice site	probably benign
R2432:Usp40	UTSW	1	87,909,804 (GRCm39)	missense	probably benign
R2865:Usp40	UTSW	1	87,877,701 (GRCm39)	nonsense	probably null
R3885:Usp40	UTSW	1	87,894,991 (GRCm39)	missense	probably damaging	1.00
R4360:Usp40	UTSW	1	87,880,083 (GRCm39)	missense	probably damaging	1.00
R4370:Usp40	UTSW	1	87,925,597 (GRCm39)	missense	probably benign
R4496:Usp40	UTSW	1	87,923,459 (GRCm39)	missense	possibly damaging	0.69
R4714:Usp40	UTSW	1	87,894,901 (GRCm39)	splice site	probably null
R4888:Usp40	UTSW	1	87,913,923 (GRCm39)	critical splice acceptor site	probably null
R4944:Usp40	UTSW	1	87,880,077 (GRCm39)	missense	probably benign	0.10
R5269:Usp40	UTSW	1	87,923,504 (GRCm39)	missense	probably benign	0.01
R5629:Usp40	UTSW	1	87,908,731 (GRCm39)	missense	probably benign
R5696:Usp40	UTSW	1	87,923,474 (GRCm39)	missense	probably benign	0.27
R5756:Usp40	UTSW	1	87,879,413 (GRCm39)	missense	possibly damaging	0.66
R5887:Usp40	UTSW	1	87,927,592 (GRCm39)	missense	probably damaging	1.00
R5910:Usp40	UTSW	1	87,896,122 (GRCm39)	nonsense	probably null
R6014:Usp40	UTSW	1	87,907,738 (GRCm39)	missense	probably damaging	1.00
R6044:Usp40	UTSW	1	87,917,872 (GRCm39)	missense	probably benign
R6083:Usp40	UTSW	1	87,906,281 (GRCm39)	missense	probably benign	0.01
R6299:Usp40	UTSW	1	87,925,649 (GRCm39)	missense	probably damaging	0.99
R6757:Usp40	UTSW	1	87,907,759 (GRCm39)	missense	probably damaging	0.99
R6810:Usp40	UTSW	1	87,908,755 (GRCm39)	missense	probably benign	0.11
R7110:Usp40	UTSW	1	87,913,884 (GRCm39)	missense	probably benign	0.11
R7573:Usp40	UTSW	1	87,913,794 (GRCm39)	missense	probably benign	0.09
R7575:Usp40	UTSW	1	87,877,682 (GRCm39)	missense	probably damaging	1.00
R7634:Usp40	UTSW	1	87,890,152 (GRCm39)	nonsense	probably null
R7756:Usp40	UTSW	1	87,894,922 (GRCm39)	missense	probably damaging	0.99
R7767:Usp40	UTSW	1	87,909,900 (GRCm39)	missense	probably benign	0.01
R7861:Usp40	UTSW	1	87,909,852 (GRCm39)	missense	probably damaging	0.99
R7881:Usp40	UTSW	1	87,923,435 (GRCm39)	nonsense	probably null
R7896:Usp40	UTSW	1	87,906,201 (GRCm39)	missense	possibly damaging	0.77
R8119:Usp40	UTSW	1	87,895,400 (GRCm39)	splice site	probably null
R8354:Usp40	UTSW	1	87,908,694 (GRCm39)	missense	probably benign	0.00
R8358:Usp40	UTSW	1	87,908,770 (GRCm39)	missense	possibly damaging	0.71
R8425:Usp40	UTSW	1	87,887,558 (GRCm39)	missense	probably benign
R8446:Usp40	UTSW	1	87,906,190 (GRCm39)	missense	probably benign
R8454:Usp40	UTSW	1	87,908,694 (GRCm39)	missense	probably benign	0.00
R8744:Usp40	UTSW	1	87,911,491 (GRCm39)	missense	probably benign
R9002:Usp40	UTSW	1	87,935,063 (GRCm39)	missense	probably benign
R9033:Usp40	UTSW	1	87,923,499 (GRCm39)	utr 3 prime	probably benign
R9210:Usp40	UTSW	1	87,885,035 (GRCm39)	missense	possibly damaging	0.90
R9245:Usp40	UTSW	1	87,878,009 (GRCm39)	missense	probably benign
R9331:Usp40	UTSW	1	87,901,828 (GRCm39)	missense	probably damaging	1.00
R9378:Usp40	UTSW	1	87,885,032 (GRCm39)	missense	probably damaging	1.00
R9379:Usp40	UTSW	1	87,881,889 (GRCm39)	missense	probably benign
R9501:Usp40	UTSW	1	87,925,557 (GRCm39)	missense	probably benign	0.01
R9535:Usp40	UTSW	1	87,935,161 (GRCm39)	start gained	probably benign
R9537:Usp40	UTSW	1	87,935,117 (GRCm39)	missense	probably benign	0.01
RF006:Usp40	UTSW	1	87,894,917 (GRCm39)	missense	possibly damaging	0.47
Z1177:Usp40	UTSW	1	87,896,136 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCTTGGTTGGCTCAACTG -3'
(R):5'- CAGAGTTGCTCCTTCCCAAC -3'

Sequencing Primer
(F):5'- TGGTTGGCTCAACTGTCTTC -3'
(R):5'- GTTGCTCCTTCCCAACTAACATG -3'

Posted On

2018-06-22