Mutagenetix > Incidental Mutation

Incidental Mutation 'R4496:Usp40'

330958

Institutional Source

Beutler Lab

Gene Symbol

Usp40

Ensembl Gene

ENSMUSG00000005501

Gene Name

ubiquitin specific peptidase 40

Synonyms

B230215L03Rik

MMRRC Submission

041749-MU

Accession Numbers

Genbank: NM_001033291

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4496 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87945119-88008551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87995737 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 271 (I271V)

Ref Sequence

ENSEMBL: ENSMUSP00000140107 (fasta)

Gene Model

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

AlphaFold

Q8BWR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040783
AA Change: I271V

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: I271V

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: ENSMUST00000186315

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187758
AA Change: I271V

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: I271V

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

Meta Mutation Damage Score

0.1076

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (50/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,383,973	L514H	possibly damaging	Het
Abca7	T	C	10: 80,002,934	F647S	probably damaging	Het
Ahi1	A	G	10: 20,965,545	K244E	probably benign	Het
Ankhd1	G	A	18: 36,560,786	D17N	probably damaging	Het
Arvcf	G	T	16: 18,405,182	K890N	probably damaging	Het
Atp11c	T	C	X: 60,280,744	D478G	probably damaging	Het
Clasrp	C	A	7: 19,585,240		probably benign	Het
Clca2	C	T	3: 145,092,165	D180N	possibly damaging	Het
Comt	T	C	16: 18,411,687		probably null	Het
Cylc2	C	G	4: 51,229,651	T331R	unknown	Het
Cyp2d11	C	T	15: 82,391,948		probably benign	Het
D10Jhu81e	T	C	10: 78,163,543	I145V	probably damaging	Het
Elmsan1	C	T	12: 84,156,471	G886S	probably benign	Het
Fam169b	G	T	7: 68,358,206	C289F	possibly damaging	Het
Fam214a	T	A	9: 75,031,531	S1038T	probably damaging	Het
Fastkd5	T	C	2: 130,616,581	T30A	probably benign	Het
Fchsd2	A	C	7: 101,282,495	T753P	probably benign	Het
Glis3	G	A	19: 28,666,127	S5L	possibly damaging	Het
Gpr158	T	A	2: 21,826,999	M970K	probably damaging	Het
Gpt	A	T	15: 76,698,463	Q276L	probably damaging	Het
Gtf3c3	G	T	1: 54,424,132	S302R	probably benign	Het
Hnrnpc	A	G	14: 52,075,431	S229P	probably benign	Het
Ikzf5	T	C	7: 131,396,664		probably null	Het
Mal2	T	C	15: 54,598,439	V110A	probably damaging	Het
Myo3b	A	G	2: 70,254,404	D702G	probably benign	Het
Myo9b	G	A	8: 71,334,337	R721Q	probably benign	Het
Nat10	T	A	2: 103,757,739	I14F	probably damaging	Het
Nat14	C	T	7: 4,923,919	T30M	probably damaging	Het
Ndst4	C	A	3: 125,683,273	A49D	probably damaging	Het
Nnt	A	T	13: 119,381,765	M292K	probably damaging	Het
Obox7	C	T	7: 14,665,374	T175I	probably benign	Het
Olfr1395	T	A	11: 49,148,387	N43K	possibly damaging	Het
Olfr787	T	G	10: 129,463,561	V295G	possibly damaging	Het
Plekhm3	T	C	1: 64,861,236	E634G	probably damaging	Het
Plxdc2	T	A	2: 16,512,229	I107K	probably damaging	Het
Psmb10	T	A	8: 105,936,028	R226S	probably damaging	Het
Ptprr	T	A	10: 116,229,502	V160E	possibly damaging	Het
Sema5a	T	A	15: 32,640,987	L649H	probably damaging	Het
Sephs1	T	A	2: 4,906,683	I356K	probably benign	Het
Serpinb3d	C	T	1: 107,079,292	V229M	probably damaging	Het
Slc7a4	T	C	16: 17,575,812	D41G	probably damaging	Het
Sort1	T	C	3: 108,310,145	V121A	probably benign	Het
Tcf20	C	A	15: 82,854,984	Q755H	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Ttll13	A	T	7: 80,256,919	Y445F	probably benign	Het
Vmn1r72	A	G	7: 11,669,864	I219T	probably damaging	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
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
R9501:Usp40	UTSW	1	87997835	missense	probably benign	0.01
R9535:Usp40	UTSW	1	88007439	start gained	probably benign
R9537:Usp40	UTSW	1	88007395	missense	probably benign	0.01
RF006:Usp40	UTSW	1	87967195	missense	possibly damaging	0.47
Z1177:Usp40	UTSW	1	87968414	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACAGCAACTTTCTTGGG -3'
(R):5'- ACAGCAAAGCATTATGTATTCTGTC -3'

Sequencing Primer
(F):5'- GGTACCACAGGCCTTAATCTTAG -3'
(R):5'- CTGTCATGTAACTTTGTCAATTCTTC -3'

Posted On

2015-07-21