Mutagenetix > Incidental Mutation

Incidental Mutation 'R2865:Usp40'

253136

Institutional Source

Beutler Lab

Gene Symbol

Usp40

Ensembl Gene

ENSMUSG00000005501

Gene Name

ubiquitin specific peptidase 40

Synonyms

B230215L03Rik

MMRRC Submission

040454-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87872841-87936273 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 87877701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1152 (Q1152*)

Ref Sequence

ENSEMBL: ENSMUSP00000140107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040783] [ENSMUST00000187758] [ENSMUST00000188332] [ENSMUST00000189448] [ENSMUST00000190061]

AlphaFold

Q8BWR4

Predicted Effect

probably null
Transcript: ENSMUST00000040783
AA Change: Q1063*

SMART Domains

Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: Q1063*

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

noncoding transcript
Transcript: ENSMUST00000186670

Predicted Effect

probably null
Transcript: ENSMUST00000187758
AA Change: Q1152*

SMART Domains

Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: Q1152*

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

probably benign
Transcript: ENSMUST00000189448

SMART Domains

Protein: ENSMUSP00000139626
Gene: ENSMUSG00000070738

Domain	Start	End	E-Value	Type
low complexity region	82	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190061

SMART Domains

Protein: ENSMUSP00000139658
Gene: ENSMUSG00000070738

Domain	Start	End	E-Value	Type
DAGKa	1	95	7.6e-26	SMART
Blast:DAGKa	119	188	1e-23	BLAST
low complexity region	301	312	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (30/30)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	G	8: 12,329,635 (GRCm39)	Q30R	unknown	Het
Bmper	A	G	9: 23,395,237 (GRCm39)	N656S	probably benign	Het
Cic	T	A	7: 24,972,646 (GRCm39)	D792E	probably damaging	Het
Dab1	G	A	4: 104,537,343 (GRCm39)	C192Y	probably benign	Het
Ddx6	G	T	9: 44,525,553 (GRCm39)	L103F	probably damaging	Het
Fhod1	T	C	8: 106,059,543 (GRCm39)	K714R	probably null	Het
Flt1	T	C	5: 147,531,431 (GRCm39)	Q844R	possibly damaging	Het
Fnip1	T	C	11: 54,393,250 (GRCm39)	I562T	probably damaging	Het
Fxr2	T	A	11: 69,530,253 (GRCm39)	I40N	probably damaging	Het
Gm7168	A	G	17: 14,170,117 (GRCm39)	K495E	probably benign	Het
Gria2	C	T	3: 80,639,392 (GRCm39)	V207I	probably benign	Het
Ifna6	G	C	4: 88,746,099 (GRCm39)	R149S	probably benign	Het
Ifna6	C	A	4: 88,746,086 (GRCm39)	T145K	probably benign	Het
Igf2r	T	C	17: 12,905,611 (GRCm39)	H2240R	probably damaging	Het
Ighv8-9	G	A	12: 115,432,066 (GRCm39)	P82S	probably benign	Het
Itpr3	T	C	17: 27,310,525 (GRCm39)	V436A	probably benign	Het
Ldb3	T	G	14: 34,251,460 (GRCm39)	D609A	probably damaging	Het
Lgalsl2	G	T	7: 5,362,668 (GRCm39)	D100Y	probably benign	Het
Luc7l	C	A	17: 26,485,335 (GRCm39)	Q112K	probably damaging	Het
Marchf4	C	T	1: 72,491,734 (GRCm39)	R179H	probably damaging	Het
Myt1l	A	G	12: 29,960,788 (GRCm39)	T75A	probably benign	Het
Or5t9	A	T	2: 86,659,198 (GRCm39)	D34V	probably benign	Het
Or8h10	A	T	2: 86,808,805 (GRCm39)	C112S	possibly damaging	Het
Parp4	C	T	14: 56,851,181 (GRCm39)	T728M	probably damaging	Het
Ppp1r10	A	G	17: 36,239,384 (GRCm39)	T398A	possibly damaging	Het
Ppp4c	A	T	7: 126,391,272 (GRCm39)	I20N	probably damaging	Het
Rph3a	C	T	5: 121,085,990 (GRCm39)	G482D	probably damaging	Het
Rtel1	T	A	2: 180,991,765 (GRCm39)	F388I	probably benign	Het
Slc12a6	G	A	2: 112,177,662 (GRCm39)	V594I	probably benign	Het
Slc2a4	G	A	11: 69,836,942 (GRCm39)	S134F	probably damaging	Het
Tead4	A	T	6: 128,225,062 (GRCm39)		probably null	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
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
R6625:Usp40	UTSW	1	87,894,935 (GRCm39)	missense	probably benign	0.01
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'- CTCCAGAACAGGAAGTCAAATCTCG -3'
(R):5'- GCTTTCTCAGGAAACCAGGC -3'

Sequencing Primer
(F):5'- AGGATGGTTGTGAGCCACC -3'
(R):5'- GAAACCAGGCTCTCTCTGACTG -3'

Posted On

2014-12-04