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

87872841-87936273 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87913845 bp (GRCm39)

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: 28,849,934 (GRCm39)	D167E	probably damaging	Het
Aadat	A	T	8: 60,979,648 (GRCm39)	E170V	probably benign	Het
Acsf2	T	C	11: 94,461,276 (GRCm39)	E300G	probably benign	Het
Agbl3	C	T	6: 34,823,911 (GRCm39)	Q859*	probably null	Het
Arhgap11a	T	C	2: 113,665,118 (GRCm39)		probably benign	Het
Arhgef40	C	A	14: 52,231,803 (GRCm39)	Q730K	probably damaging	Het
Armc3	C	T	2: 19,206,616 (GRCm39)	P13L	possibly damaging	Het
B3gnt2	T	A	11: 22,786,490 (GRCm39)	T233S	probably benign	Het
Bnc1	G	A	7: 81,623,455 (GRCm39)	Q591*	probably null	Het
Bsn	A	T	9: 107,993,185 (GRCm39)	F856I	probably damaging	Het
CK137956	T	A	4: 127,829,643 (GRCm39)	T558S	probably benign	Het
Coq8b	G	A	7: 26,939,509 (GRCm39)	V180I	probably damaging	Het
Csmd1	A	T	8: 17,584,944 (GRCm39)	L16Q	possibly damaging	Het
Dhx37	A	G	5: 125,496,152 (GRCm39)	S769P	possibly damaging	Het
Diras1	T	A	10: 80,858,249 (GRCm39)	M1L	probably damaging	Het
Fam161b	A	G	12: 84,404,438 (GRCm39)	W81R	probably benign	Het
Fat4	A	T	3: 39,011,418 (GRCm39)	I2173L	probably benign	Het
Fbn2	T	C	18: 58,237,153 (GRCm39)	T617A	possibly damaging	Het
Gabrq	G	A	X: 71,880,439 (GRCm39)	D311N	probably benign	Het
Isl2	G	T	9: 55,452,746 (GRCm39)	G335C	probably damaging	Het
Kbtbd7	T	C	14: 79,666,052 (GRCm39)	V628A	probably damaging	Het
Kmt2d	T	C	15: 98,735,029 (GRCm39)	M5378V	unknown	Het
Lrrc23	G	T	6: 124,755,782 (GRCm39)	D75E	probably benign	Het
Mab21l3	G	A	3: 101,742,446 (GRCm39)	T38M	probably benign	Het
Matn1	T	C	4: 130,677,322 (GRCm39)	I177T	possibly damaging	Het
Mtor	T	C	4: 148,537,494 (GRCm39)	S60P	probably benign	Het
Naip6	T	C	13: 100,440,946 (GRCm39)	E278G	probably benign	Het
Nsun6	T	C	2: 15,053,789 (GRCm39)	I7V	possibly damaging	Het
Pabpc6	A	T	17: 9,887,076 (GRCm39)	S492T	probably benign	Het
Pakap	C	T	4: 57,757,627 (GRCm39)	Q188*	probably null	Het
Pom121	A	T	5: 135,420,560 (GRCm39)	V287D	unknown	Het
Ptprq	A	T	10: 107,522,079 (GRCm39)	F624Y	probably damaging	Het
Ptprr	A	G	10: 116,024,222 (GRCm39)	T178A	probably benign	Het
Pygm	A	G	19: 6,441,424 (GRCm39)	N473S	probably benign	Het
Ros1	A	T	10: 51,996,905 (GRCm39)	Y1256N	probably damaging	Het
Scpep1	T	C	11: 88,832,154 (GRCm39)	N192S	possibly damaging	Het
Serpina1f	A	G	12: 103,660,265 (GRCm39)	S6P	possibly damaging	Het
Sgca	T	A	11: 94,863,113 (GRCm39)	Q80L	probably damaging	Het
Skint6	A	G	4: 112,661,879 (GRCm39)	L1235P	possibly damaging	Het
Slc23a2	A	C	2: 131,898,736 (GRCm39)	N600K	probably benign	Het
Spata20	T	C	11: 94,374,221 (GRCm39)	T350A	probably benign	Het
Syne1	G	T	10: 5,294,921 (GRCm39)	Y1227*	probably null	Het
Unc13c	T	C	9: 73,840,479 (GRCm39)	Y124C	probably benign	Het
Vmn1r200	T	C	13: 22,579,571 (GRCm39)	W116R	probably benign	Het
Vps4a	T	C	8: 107,765,851 (GRCm39)		probably benign	Het
Zfyve16	A	G	13: 92,629,030 (GRCm39)	V1469A	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
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
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

Posted On

2013-06-21