Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01123:Usp40'

50307

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp40

Ensembl Gene

ENSMUSG00000005501

Gene Name

ubiquitin specific peptidase 40

Synonyms

B230215L03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01123

Quality Score

Status

Chromosome

Chromosomal Location

87945119-88008551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87986123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 416 (T416I)

Ref Sequence

ENSEMBL: ENSMUSP00000140107 (fasta)

Gene Model

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

AlphaFold

Q8BWR4

Predicted Effect

probably benign
Transcript: ENSMUST00000040783
AA Change: T416I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: T416I

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

probably benign
Transcript: ENSMUST00000187758
AA Change: T416I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: T416I

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

Coding Region Coverage

Validation Efficiency

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
2310057J18Rik	G	T	10: 28,973,938 (GRCm38)	D167E	probably damaging	Het
Aadat	A	T	8: 60,526,614 (GRCm38)	E170V	probably benign	Het
Acsf2	T	C	11: 94,570,450 (GRCm38)	E300G	probably benign	Het
Agbl3	C	T	6: 34,846,976 (GRCm38)	Q859*	probably null	Het
Arhgap11a	T	C	2: 113,834,773 (GRCm38)		probably benign	Het
Arhgef40	C	A	14: 51,994,346 (GRCm38)	Q730K	probably damaging	Het
Armc3	C	T	2: 19,201,805 (GRCm38)	P13L	possibly damaging	Het
B3gnt2	T	A	11: 22,836,490 (GRCm38)	T233S	probably benign	Het
Bnc1	G	A	7: 81,973,707 (GRCm38)	Q591*	probably null	Het
Bsn	A	T	9: 108,115,986 (GRCm38)	F856I	probably damaging	Het
CK137956	T	A	4: 127,935,850 (GRCm38)	T558S	probably benign	Het
Coq8b	G	A	7: 27,240,084 (GRCm38)	V180I	probably damaging	Het
Csmd1	A	T	8: 17,534,928 (GRCm38)	L16Q	possibly damaging	Het
Dhx37	A	G	5: 125,419,088 (GRCm38)	S769P	possibly damaging	Het
Diras1	T	A	10: 81,022,415 (GRCm38)	M1L	probably damaging	Het
Fam161b	A	G	12: 84,357,664 (GRCm38)	W81R	probably benign	Het
Fat4	A	T	3: 38,957,269 (GRCm38)	I2173L	probably benign	Het
Fbn2	T	C	18: 58,104,081 (GRCm38)	T617A	possibly damaging	Het
Gabrq	G	A	X: 72,836,833 (GRCm38)	D311N	probably benign	Het
Isl2	G	T	9: 55,545,462 (GRCm38)	G335C	probably damaging	Het
Kbtbd7	T	C	14: 79,428,612 (GRCm38)	V628A	probably damaging	Het
Kmt2d	T	C	15: 98,837,148 (GRCm38)	M5378V	unknown	Het
Lrrc23	G	T	6: 124,778,819 (GRCm38)	D75E	probably benign	Het
Mab21l3	G	A	3: 101,835,130 (GRCm38)	T38M	probably benign	Het
Matn1	T	C	4: 130,950,011 (GRCm38)	I177T	possibly damaging	Het
Mtor	T	C	4: 148,453,037 (GRCm38)	S60P	probably benign	Het
Naip6	T	C	13: 100,304,438 (GRCm38)	E278G	probably benign	Het
Nsun6	T	C	2: 15,048,978 (GRCm38)	I7V	possibly damaging	Het
Pabpc6	A	T	17: 9,668,147 (GRCm38)	S492T	probably benign	Het
Pakap	C	T	4: 57,757,627 (GRCm38)	Q188*	probably null	Het
Pom121	A	T	5: 135,391,706 (GRCm38)	V287D	unknown	Het
Ptprq	A	T	10: 107,686,218 (GRCm38)	F624Y	probably damaging	Het
Ptprr	A	G	10: 116,188,317 (GRCm38)	T178A	probably benign	Het
Pygm	A	G	19: 6,391,394 (GRCm38)	N473S	probably benign	Het
Ros1	A	T	10: 52,120,809 (GRCm38)	Y1256N	probably damaging	Het
Scpep1	T	C	11: 88,941,328 (GRCm38)	N192S	possibly damaging	Het
Serpina1f	A	G	12: 103,694,006 (GRCm38)	S6P	possibly damaging	Het
Sgca	T	A	11: 94,972,287 (GRCm38)	Q80L	probably damaging	Het
Skint6	A	G	4: 112,804,682 (GRCm38)	L1235P	possibly damaging	Het
Slc23a2	A	C	2: 132,056,816 (GRCm38)	N600K	probably benign	Het
Spata20	T	C	11: 94,483,395 (GRCm38)	T350A	probably benign	Het
Syne1	G	T	10: 5,344,921 (GRCm38)	Y1227*	probably null	Het
Unc13c	T	C	9: 73,933,197 (GRCm38)	Y124C	probably benign	Het
Vmn1r200	T	C	13: 22,395,401 (GRCm38)	W116R	probably benign	Het
Vps4a	T	C	8: 107,039,219 (GRCm38)		probably benign	Het
Zfyve16	A	G	13: 92,492,522 (GRCm38)	V1469A	probably damaging	Het

Other mutations in Usp40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Usp40	APN	1	88,004,238 (GRCm38)	splice site	probably benign
IGL00828:Usp40	APN	1	87,978,306 (GRCm38)	unclassified	probably benign
IGL01090:Usp40	APN	1	87,962,465 (GRCm38)	missense	probably benign	0.01
IGL01401:Usp40	APN	1	87,994,198 (GRCm38)	missense	probably damaging	1.00
IGL02506:Usp40	APN	1	87,982,016 (GRCm38)	missense	probably damaging	0.98
IGL02580:Usp40	APN	1	87,980,966 (GRCm38)	splice site	probably null
IGL02625:Usp40	APN	1	87,950,017 (GRCm38)	missense	probably benign	0.19
IGL02811:Usp40	APN	1	87,995,736 (GRCm38)	missense	probably damaging	1.00
IGL02958:Usp40	APN	1	87,978,485 (GRCm38)	missense	probably damaging	0.99
Brink	UTSW	1	87,981,033 (GRCm38)	missense	probably benign	0.11
void	UTSW	1	87,995,713 (GRCm38)	nonsense	probably null
G5030:Usp40	UTSW	1	87,994,219 (GRCm38)	missense	probably damaging	1.00
R0019:Usp40	UTSW	1	87,978,411 (GRCm38)	missense	probably benign	0.00
R0282:Usp40	UTSW	1	87,980,958 (GRCm38)	splice site	probably benign
R0453:Usp40	UTSW	1	87,946,598 (GRCm38)	makesense	probably null
R0646:Usp40	UTSW	1	87,978,522 (GRCm38)	missense	probably benign	0.00
R1440:Usp40	UTSW	1	87,982,086 (GRCm38)	missense	probably benign	0.01
R1490:Usp40	UTSW	1	87,988,965 (GRCm38)	nonsense	probably null
R1620:Usp40	UTSW	1	87,994,225 (GRCm38)	missense	probably damaging	1.00
R1881:Usp40	UTSW	1	87,994,271 (GRCm38)	missense	probably benign	0.08
R1903:Usp40	UTSW	1	87,982,056 (GRCm38)	missense	probably benign	0.15
R1912:Usp40	UTSW	1	87,946,646 (GRCm38)	missense	probably benign	0.00
R1919:Usp40	UTSW	1	87,995,842 (GRCm38)	missense	possibly damaging	0.75
R1976:Usp40	UTSW	1	87,978,536 (GRCm38)	missense	probably benign	0.00
R2111:Usp40	UTSW	1	87,950,214 (GRCm38)	missense	probably benign	0.17
R2112:Usp40	UTSW	1	87,950,214 (GRCm38)	missense	probably benign	0.17
R2163:Usp40	UTSW	1	87,995,858 (GRCm38)	splice site	probably benign
R2432:Usp40	UTSW	1	87,982,082 (GRCm38)	missense	probably benign
R2865:Usp40	UTSW	1	87,949,979 (GRCm38)	nonsense	probably null
R3885:Usp40	UTSW	1	87,967,269 (GRCm38)	missense	probably damaging	1.00
R4360:Usp40	UTSW	1	87,952,361 (GRCm38)	missense	probably damaging	1.00
R4370:Usp40	UTSW	1	87,997,875 (GRCm38)	missense	probably benign
R4496:Usp40	UTSW	1	87,995,737 (GRCm38)	missense	possibly damaging	0.69
R4714:Usp40	UTSW	1	87,967,179 (GRCm38)	splice site	probably null
R4888:Usp40	UTSW	1	87,986,201 (GRCm38)	critical splice acceptor site	probably null
R4944:Usp40	UTSW	1	87,952,355 (GRCm38)	missense	probably benign	0.10
R5269:Usp40	UTSW	1	87,995,782 (GRCm38)	missense	probably benign	0.01
R5629:Usp40	UTSW	1	87,981,009 (GRCm38)	missense	probably benign
R5696:Usp40	UTSW	1	87,995,752 (GRCm38)	missense	probably benign	0.27
R5756:Usp40	UTSW	1	87,951,691 (GRCm38)	missense	possibly damaging	0.66
R5887:Usp40	UTSW	1	87,999,870 (GRCm38)	missense	probably damaging	1.00
R5910:Usp40	UTSW	1	87,968,400 (GRCm38)	nonsense	probably null
R6014:Usp40	UTSW	1	87,980,016 (GRCm38)	missense	probably damaging	1.00
R6044:Usp40	UTSW	1	87,990,150 (GRCm38)	missense	probably benign
R6083:Usp40	UTSW	1	87,978,559 (GRCm38)	missense	probably benign	0.01
R6299:Usp40	UTSW	1	87,997,927 (GRCm38)	missense	probably damaging	0.99
R6625:Usp40	UTSW	1	87,967,213 (GRCm38)	missense	probably benign	0.01
R6757:Usp40	UTSW	1	87,980,037 (GRCm38)	missense	probably damaging	0.99
R6810:Usp40	UTSW	1	87,981,033 (GRCm38)	missense	probably benign	0.11
R7110:Usp40	UTSW	1	87,986,162 (GRCm38)	missense	probably benign	0.11
R7573:Usp40	UTSW	1	87,986,072 (GRCm38)	missense	probably benign	0.09
R7575:Usp40	UTSW	1	87,949,960 (GRCm38)	missense	probably damaging	1.00
R7634:Usp40	UTSW	1	87,962,430 (GRCm38)	nonsense	probably null
R7756:Usp40	UTSW	1	87,967,200 (GRCm38)	missense	probably damaging	0.99
R7767:Usp40	UTSW	1	87,982,178 (GRCm38)	missense	probably benign	0.01
R7861:Usp40	UTSW	1	87,982,130 (GRCm38)	missense	probably damaging	0.99
R7881:Usp40	UTSW	1	87,995,713 (GRCm38)	nonsense	probably null
R7896:Usp40	UTSW	1	87,978,479 (GRCm38)	missense	possibly damaging	0.77
R8119:Usp40	UTSW	1	87,967,678 (GRCm38)	splice site	probably null
R8354:Usp40	UTSW	1	87,980,972 (GRCm38)	missense	probably benign	0.00
R8358:Usp40	UTSW	1	87,981,048 (GRCm38)	missense	possibly damaging	0.71
R8425:Usp40	UTSW	1	87,959,836 (GRCm38)	missense	probably benign
R8446:Usp40	UTSW	1	87,978,468 (GRCm38)	missense	probably benign
R8454:Usp40	UTSW	1	87,980,972 (GRCm38)	missense	probably benign	0.00
R8744:Usp40	UTSW	1	87,983,769 (GRCm38)	missense	probably benign
R9002:Usp40	UTSW	1	88,007,341 (GRCm38)	missense	probably benign
R9033:Usp40	UTSW	1	87,995,777 (GRCm38)	utr 3 prime	probably benign
R9210:Usp40	UTSW	1	87,957,313 (GRCm38)	missense	possibly damaging	0.90
R9245:Usp40	UTSW	1	87,950,287 (GRCm38)	missense	probably benign
R9331:Usp40	UTSW	1	87,974,106 (GRCm38)	missense	probably damaging	1.00
R9378:Usp40	UTSW	1	87,957,310 (GRCm38)	missense	probably damaging	1.00
R9379:Usp40	UTSW	1	87,954,167 (GRCm38)	missense	probably benign
R9501:Usp40	UTSW	1	87,997,835 (GRCm38)	missense	probably benign	0.01
R9535:Usp40	UTSW	1	88,007,439 (GRCm38)	start gained	probably benign
R9537:Usp40	UTSW	1	88,007,395 (GRCm38)	missense	probably benign	0.01
RF006:Usp40	UTSW	1	87,967,195 (GRCm38)	missense	possibly damaging	0.47
Z1177:Usp40	UTSW	1	87,968,414 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-06-21