Mutagenetix > Incidental Mutations

Incidental Mutation 'RF006:Usp40'

602803

Institutional Source

Beutler Lab

Gene Symbol

Usp40

Ensembl Gene

ENSMUSG00000005501

Gene Name

ubiquitin specific peptidase 40

Synonyms

B230215L03Rik

Accession Numbers

Genbank: NM_001033291

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF006 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87945119-88008551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87967195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 868 (S868A)

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

possibly damaging
Transcript: ENSMUST00000187758
AA Change: S868A

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: S868A

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

97% (36/37)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	T	9: 92,352,649	I146F	possibly damaging	Het
4930548H24Rik	C	T	5: 31,487,550	Q216*	probably null	Het
Acbd7	GTT	GT	2: 3,340,699		probably null	Het
Acp7	A	T	7: 28,614,779	N330K	possibly damaging	Het
Adam25	A	T	8: 40,755,797	H700L	probably benign	Het
Alg9	GGGTGG	GGGTGGTGG	9: 50,775,417		probably benign	Het
Atp8b3	A	T	10: 80,526,236	V689E	probably benign	Het
Atxn2l	A	G	7: 126,495,891	V533A	probably benign	Het
C87414	A	T	5: 93,636,703	C301S	probably benign	Het
Catsperb	G	A	12: 101,575,979		probably null	Het
Ccdc13	T	C	9: 121,814,207	K376R	probably damaging	Het
Ccdc170	C	CCAA	10: 4,561,030		probably benign	Het
Cdh9	G	C	15: 16,855,830	R652P	probably damaging	Het
Cenpf	A	C	1: 189,657,386	C1416W	probably damaging	Het
Chga	GCA	GCATCA	12: 102,561,412		probably benign	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGAAG	TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG	9: 87,040,425		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGAGAGACACGCTGGCCAGGGA	9: 87,040,441		probably benign	Het
Dennd3	T	C	15: 73,547,592	I744T	probably damaging	Het
Dnah1	C	T	14: 31,307,875	R491Q	probably benign	Het
Eif4a2	A	T	16: 23,110,278	M188L	possibly damaging	Het
Esf1	CTCCTCTTC	CTC	2: 140,164,374		probably benign	Het
Fat3	T	C	9: 15,998,617	I2030V	probably benign	Het
Gab3	CTT	CTTTTT	X: 75,000,027		probably benign	Het
Gins4	A	T	8: 23,227,167	V195E	possibly damaging	Het
Gm17402	TCCTCCTCC	TCCTCCTCCCCCTCCTCC	3: 67,365,559		probably benign	Het
Gm17604	CTCTCTTTC	CTC	X: 165,003,818		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,511,764		probably benign	Het
Gnpnat1	T	A	14: 45,383,443		probably null	Het
Inpp4a	A	C	1: 37,388,827	N651T	possibly damaging	Het
Ireb2	T	C	9: 54,881,484	F81L	possibly damaging	Het
Kcnh3	T	A	15: 99,239,928		probably null	Het
Kmt2b	CTCCTC	CTCCTCATCCTC	7: 30,586,377		probably benign	Het
Kmt2c	TG	TGCTGTGG	5: 25,315,772		probably benign	Het
Myt1	T	C	2: 181,797,773	S405P	probably damaging	Het
Net1	T	C	13: 3,887,406	T245A	probably benign	Het
Nkx2-1	T	C	12: 56,533,547	T203A	probably damaging	Het
Oas3	T	C	5: 120,774,100	E75G	probably damaging	Het
Pappa	T	A	4: 65,323,873	D1491E	probably benign	Het
Pkhd1l1	C	A	15: 44,503,238	T704K	probably benign	Het
Pkhd1l1	TT	TTTTTTTTTGT	15: 44,558,507		probably benign	Het
Ppp1r8	TCTCTCAC	TC	4: 132,830,617		probably benign	Het
Ppp2r3c	T	A	12: 55,293,815	I157F	probably benign	Het
Rspo4	C	T	2: 151,867,877		probably null	Het
Rtn4	T	C	11: 29,706,919	S358P	possibly damaging	Het
Siglecg	T	A	7: 43,408,864	Y58*	probably null	Het
Slc4a1	C	T	11: 102,356,716		probably null	Het
Slc9b1	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	3: 135,357,542		probably benign	Het
Smc2	T	A	4: 52,442,276	D64E	probably benign	Het
Spaca1	CTCGC	CTCGCTATCGC	4: 34,049,853		probably benign	Het
Srrm2	A	G	17: 23,812,588	S236G	unknown	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Strn	TGCTCCCTTACCCCAGTC	TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC	17: 78,677,271		probably null	Het
Tfeb	CAG	CAGGAG	17: 47,786,113		probably benign	Het
Tktl2	A	T	8: 66,512,852	E354V	probably benign	Het
Tpte	A	G	8: 22,306,943	T94A	probably benign	Het
Vmn2r24	G	A	6: 123,806,419	C526Y	probably damaging	Het
Vmn2r58	CAAAATGATGTAGCACTT	C	7: 41,836,959		probably null	Het

Other mutations in Usp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Usp40	APN	1	88004238	splice site	probably benign
IGL00828:Usp40	APN	1	87978306	unclassified	probably benign
IGL01090:Usp40	APN	1	87962465	missense	probably benign	0.01
IGL01123:Usp40	APN	1	87986123	missense	probably benign	0.01
IGL01401:Usp40	APN	1	87994198	missense	probably damaging	1.00
IGL02506:Usp40	APN	1	87982016	missense	probably damaging	0.98
IGL02580:Usp40	APN	1	87980966	splice site	probably null
IGL02625:Usp40	APN	1	87950017	missense	probably benign	0.19
IGL02811:Usp40	APN	1	87995736	missense	probably damaging	1.00
IGL02958:Usp40	APN	1	87978485	missense	probably damaging	0.99
Brink	UTSW	1	87981033	missense	probably benign	0.11
void	UTSW	1	87995713	nonsense	probably null
G5030:Usp40	UTSW	1	87994219	missense	probably damaging	1.00
R0019:Usp40	UTSW	1	87978411	missense	probably benign	0.00
R0282:Usp40	UTSW	1	87980958	splice site	probably benign
R0453:Usp40	UTSW	1	87946598	makesense	probably null
R0646:Usp40	UTSW	1	87978522	missense	probably benign	0.00
R1440:Usp40	UTSW	1	87982086	missense	probably benign	0.01
R1490:Usp40	UTSW	1	87988965	nonsense	probably null
R1620:Usp40	UTSW	1	87994225	missense	probably damaging	1.00
R1881:Usp40	UTSW	1	87994271	missense	probably benign	0.08
R1903:Usp40	UTSW	1	87982056	missense	probably benign	0.15
R1912:Usp40	UTSW	1	87946646	missense	probably benign	0.00
R1919:Usp40	UTSW	1	87995842	missense	possibly damaging	0.75
R1976:Usp40	UTSW	1	87978536	missense	probably benign	0.00
R2111:Usp40	UTSW	1	87950214	missense	probably benign	0.17
R2112:Usp40	UTSW	1	87950214	missense	probably benign	0.17
R2163:Usp40	UTSW	1	87995858	splice site	probably benign
R2432:Usp40	UTSW	1	87982082	missense	probably benign
R2865:Usp40	UTSW	1	87949979	nonsense	probably null
R3885:Usp40	UTSW	1	87967269	missense	probably damaging	1.00
R4360:Usp40	UTSW	1	87952361	missense	probably damaging	1.00
R4370:Usp40	UTSW	1	87997875	missense	probably benign
R4496:Usp40	UTSW	1	87995737	missense	possibly damaging	0.69
R4714:Usp40	UTSW	1	87967179	splice site	probably null
R4888:Usp40	UTSW	1	87986201	critical splice acceptor site	probably null
R4944:Usp40	UTSW	1	87952355	missense	probably benign	0.10
R5269:Usp40	UTSW	1	87995782	missense	probably benign	0.01
R5629:Usp40	UTSW	1	87981009	missense	probably benign
R5696:Usp40	UTSW	1	87995752	missense	probably benign	0.27
R5756:Usp40	UTSW	1	87951691	missense	possibly damaging	0.66
R5887:Usp40	UTSW	1	87999870	missense	probably damaging	1.00
R5910:Usp40	UTSW	1	87968400	nonsense	probably null
R6014:Usp40	UTSW	1	87980016	missense	probably damaging	1.00
R6044:Usp40	UTSW	1	87990150	missense	probably benign
R6083:Usp40	UTSW	1	87978559	missense	probably benign	0.01
R6299:Usp40	UTSW	1	87997927	missense	probably damaging	0.99
R6625:Usp40	UTSW	1	87967213	missense	probably benign	0.01
R6757:Usp40	UTSW	1	87980037	missense	probably damaging	0.99
R6810:Usp40	UTSW	1	87981033	missense	probably benign	0.11
R7110:Usp40	UTSW	1	87986162	missense	probably benign	0.11
R7573:Usp40	UTSW	1	87986072	missense	probably benign	0.09
R7575:Usp40	UTSW	1	87949960	missense	probably damaging	1.00
R7634:Usp40	UTSW	1	87962430	nonsense	probably null
R7756:Usp40	UTSW	1	87967200	missense	probably damaging	0.99
R7767:Usp40	UTSW	1	87982178	missense	probably benign	0.01
R7861:Usp40	UTSW	1	87982130	missense	probably damaging	0.99
R7881:Usp40	UTSW	1	87995713	nonsense	probably null
R7896:Usp40	UTSW	1	87978479	missense	possibly damaging	0.77
R8119:Usp40	UTSW	1	87967678	splice site	probably null
R8354:Usp40	UTSW	1	87980972	missense	probably benign	0.00
R8358:Usp40	UTSW	1	87981048	missense	possibly damaging	0.71
R8425:Usp40	UTSW	1	87959836	missense	probably benign
R8446:Usp40	UTSW	1	87978468	missense	probably benign
R8454:Usp40	UTSW	1	87980972	missense	probably benign	0.00
R8744:Usp40	UTSW	1	87983769	missense	probably benign
R9002:Usp40	UTSW	1	88007341	missense	probably benign
R9033:Usp40	UTSW	1	87995777	utr 3 prime	probably benign
R9210:Usp40	UTSW	1	87957313	missense	possibly damaging	0.90
R9245:Usp40	UTSW	1	87950287	missense	probably benign
R9331:Usp40	UTSW	1	87974106	missense	probably damaging	1.00
R9378:Usp40	UTSW	1	87957310	missense	probably damaging	1.00
R9379:Usp40	UTSW	1	87954167	missense	probably benign
Z1177:Usp40	UTSW	1	87968414	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCACATTTCTGTAGCATTATCG -3'
(R):5'- TTCCTCTCAGGTACACTACGG -3'

Sequencing Primer
(F):5'- GTAGCATTATCGATCATCAGAAAAGC -3'
(R):5'- TCAGGTACACTACGGCCCAG -3'

Posted On

2019-12-04