Mutagenetix > Incidental Mutation

Incidental Mutation 'R7565:Usp45'

585365

Institutional Source

Beutler Lab

Gene Symbol

Usp45

Ensembl Gene

ENSMUSG00000040455

Gene Name

ubiquitin specific petidase 45

Synonyms

4930550B20Rik, Gcap7, 3110003C05Rik

MMRRC Submission

045710-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21767161-21837872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21784790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 159 (T159A)

Ref Sequence

ENSEMBL: ENSMUSP00000048324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040429] [ENSMUST00000065111] [ENSMUST00000108232] [ENSMUST00000148304] [ENSMUST00000148647]

AlphaFold

Q8K387

Predicted Effect

probably benign
Transcript: ENSMUST00000040429
AA Change: T159A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000048324
Gene: ENSMUSG00000040455
AA Change: T159A

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	60	139	2e-19	PFAM
Pfam:UCH	190	761	2.8e-50	PFAM
Pfam:UCH_1	533	743	3.9e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065111
AA Change: T159A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
AA Change: T159A

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	60	139	4.1e-19	PFAM
Pfam:UCH	190	809	2.1e-45	PFAM
Pfam:UCH_1	581	790	9.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108232
AA Change: T159A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103867
Gene: ENSMUSG00000040455
AA Change: T159A

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	60	139	2.2e-19	PFAM
Pfam:UCH	190	809	4.6e-50	PFAM
Pfam:UCH_1	582	791	4.5e-10	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125982
Gene: ENSMUSG00000040455
AA Change: T125A

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	27	106	1.6e-20	PFAM
Pfam:UCH	157	205	3.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148304
AA Change: T158A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127194
Gene: ENSMUSG00000040455
AA Change: T158A

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	59	138	2.7e-21	PFAM
Pfam:UCH	189	248	1.9e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148647
AA Change: T23A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000128859
Gene: ENSMUSG00000040455
AA Change: T23A

Domain	Start	End	E-Value	Type
Pfam:UCH	54	150	4.6e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,452,750 (GRCm39)	Y63F	possibly damaging	Het
Abi1	A	T	2: 22,836,596 (GRCm39)	I421N	probably benign	Het
Ahnak	A	G	19: 8,993,520 (GRCm39)	I4935V	probably benign	Het
Atg12	A	C	18: 46,867,551 (GRCm39)	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,795,456 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,795,450 (GRCm39)		probably benign	Het
Bcl3	C	T	7: 19,546,419 (GRCm39)	V139I	probably damaging	Het
Bloc1s4	T	A	5: 36,905,689 (GRCm39)	M101L	probably benign	Het
Bmp6	C	T	13: 38,530,233 (GRCm39)	Q109*	probably null	Het
Cabyr	C	T	18: 12,877,656 (GRCm39)	T28I	possibly damaging	Het
Catsper3	T	C	13: 55,932,538 (GRCm39)	S22P	probably benign	Het
Catsperg2	A	T	7: 29,412,406 (GRCm39)	C395S	probably null	Het
Cd101	T	C	3: 100,926,108 (GRCm39)	T208A	probably benign	Het
Chaf1a	A	G	17: 56,371,148 (GRCm39)	S678G	probably benign	Het
Chrna2	A	C	14: 66,388,484 (GRCm39)	I500L	probably benign	Het
Cln6	C	T	9: 62,758,039 (GRCm39)	T266I	possibly damaging	Het
Col17a1	T	A	19: 47,659,963 (GRCm39)	T330S	possibly damaging	Het
Cyp2d40	A	G	15: 82,644,975 (GRCm39)	V225A	unknown	Het
Dnah10	A	G	5: 124,876,095 (GRCm39)	N2645D	probably damaging	Het
Dph5	T	A	3: 115,686,446 (GRCm39)	V74D	probably benign	Het
Dthd1	A	T	5: 63,000,435 (GRCm39)	I586L	probably damaging	Het
Elane	G	A	10: 79,722,879 (GRCm39)	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,587,398 (GRCm39)	T453A	probably damaging	Het
Fpr3	C	A	17: 18,191,227 (GRCm39)	T166K	probably damaging	Het
Fryl	A	G	5: 73,191,063 (GRCm39)	I2724T	probably benign	Het
Fsip2	C	T	2: 82,779,856 (GRCm39)	R201C	probably damaging	Het
Gm14496	A	G	2: 181,642,630 (GRCm39)	N767S	probably damaging	Het
Gm14496	T	A	2: 181,633,050 (GRCm39)	F11Y	possibly damaging	Het
Hyal4	T	A	6: 24,765,933 (GRCm39)	M429K	possibly damaging	Het
Itgad	A	T	7: 127,782,187 (GRCm39)	T208S	probably damaging	Het
Itpr3	T	G	17: 27,329,862 (GRCm39)	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,186 (GRCm39)	C292Y	probably damaging	Het
Kdr	T	C	5: 76,109,503 (GRCm39)	K958R	probably damaging	Het
Klhl22	T	A	16: 17,607,148 (GRCm39)	W485R	probably damaging	Het
Ldhb	T	A	6: 142,438,245 (GRCm39)	I271F	possibly damaging	Het
Lmo7	A	G	14: 102,122,737 (GRCm39)	R309G	probably damaging	Het
Marco	C	A	1: 120,402,395 (GRCm39)	C517F	probably damaging	Het
Mpdz	G	A	4: 81,221,891 (GRCm39)	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,218,600 (GRCm39)	S1410G	probably benign	Het
Ncor1	T	C	11: 62,292,091 (GRCm39)	N283S	probably damaging	Het
Nlrp14	T	A	7: 106,781,094 (GRCm39)	L97*	probably null	Het
Olfm3	T	G	3: 114,916,393 (GRCm39)	S442A	probably damaging	Het
Or10p1	A	G	10: 129,444,029 (GRCm39)	V107A	possibly damaging	Het
Or14j10	T	C	17: 37,935,392 (GRCm39)	I45V	probably damaging	Het
Or2ag12	T	C	7: 106,277,333 (GRCm39)	Y120C	probably damaging	Het
Or5a1	T	A	19: 12,097,375 (GRCm39)	S234C	probably benign	Het
Or5an10	T	C	19: 12,276,212 (GRCm39)	T95A	probably benign	Het
Pank4	G	A	4: 155,065,007 (GRCm39)	V769I	probably benign	Het
Pdgfrb	G	A	18: 61,216,336 (GRCm39)	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,104,501 (GRCm39)	S911N	probably benign	Het
Prdx6b	A	G	2: 80,123,334 (GRCm39)	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,432,870 (GRCm39)	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,078,987 (GRCm39)	D9G		Het
Rpl13a	C	T	7: 44,776,466 (GRCm39)	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,582,342 (GRCm39)	I177F	probably damaging	Het
Rttn	C	A	18: 89,078,603 (GRCm39)	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,575,539 (GRCm39)	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,938,891 (GRCm39)	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,305,813 (GRCm39)	V277M	probably damaging	Het
Spata13	A	T	14: 60,989,298 (GRCm39)	Y988F	probably damaging	Het
Spata31e2	A	T	1: 26,724,351 (GRCm39)	N276K	probably benign	Het
Spo11	A	G	2: 172,833,864 (GRCm39)	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,422,998 (GRCm39)	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,744,029 (GRCm39)	W659*	probably null	Het
Thnsl2	T	C	6: 71,118,311 (GRCm39)	D39G	probably benign	Het
Thumpd1	A	T	7: 119,316,085 (GRCm39)	L288*	probably null	Het
Tram1l1	T	C	3: 124,115,556 (GRCm39)	Y239H	probably damaging	Het
Usp38	T	A	8: 81,708,601 (GRCm39)	E992D	probably damaging	Het
Vmn1r218	C	T	13: 23,320,830 (GRCm39)	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,214,499 (GRCm39)	I218V	probably benign	Het
Xpr1	T	C	1: 155,183,488 (GRCm39)	I461V	probably benign	Het
Ydjc	T	C	16: 16,964,869 (GRCm39)	L8P	probably damaging	Het
Yme1l1	A	T	2: 23,050,232 (GRCm39)	N21I	possibly damaging	Het
Zfhx4	T	C	3: 5,455,426 (GRCm39)	L1140P	probably benign	Het

Other mutations in Usp45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Usp45	APN	4	21,830,433 (GRCm39)	missense	probably benign	0.38
IGL02053:Usp45	APN	4	21,824,553 (GRCm39)	missense	probably benign	0.43
IGL02155:Usp45	APN	4	21,798,743 (GRCm39)	splice site	probably null
R0285:Usp45	UTSW	4	21,798,603 (GRCm39)	critical splice acceptor site	probably null
R1260:Usp45	UTSW	4	21,826,204 (GRCm39)	missense	probably damaging	1.00
R1495:Usp45	UTSW	4	21,797,385 (GRCm39)	missense	possibly damaging	0.82
R1888:Usp45	UTSW	4	21,784,811 (GRCm39)	intron	probably benign
R2444:Usp45	UTSW	4	21,817,528 (GRCm39)	missense	probably benign	0.00
R2906:Usp45	UTSW	4	21,834,338 (GRCm39)	nonsense	probably null
R4058:Usp45	UTSW	4	21,810,746 (GRCm39)	missense	probably damaging	1.00
R4357:Usp45	UTSW	4	21,834,350 (GRCm39)	nonsense	probably null
R4386:Usp45	UTSW	4	21,830,505 (GRCm39)	critical splice donor site	probably null
R4648:Usp45	UTSW	4	21,825,044 (GRCm39)	missense	probably benign	0.12
R4766:Usp45	UTSW	4	21,797,307 (GRCm39)	missense	probably damaging	0.98
R4787:Usp45	UTSW	4	21,796,860 (GRCm39)	missense	probably benign
R4973:Usp45	UTSW	4	21,815,372 (GRCm39)	missense	probably damaging	1.00
R5152:Usp45	UTSW	4	21,824,815 (GRCm39)	missense	probably benign	0.41
R5900:Usp45	UTSW	4	21,830,451 (GRCm39)	missense	probably damaging	1.00
R5960:Usp45	UTSW	4	21,810,797 (GRCm39)	missense	probably damaging	1.00
R5961:Usp45	UTSW	4	21,810,797 (GRCm39)	missense	probably damaging	1.00
R6149:Usp45	UTSW	4	21,810,797 (GRCm39)	missense	probably damaging	1.00
R6150:Usp45	UTSW	4	21,810,797 (GRCm39)	missense	probably damaging	1.00
R6151:Usp45	UTSW	4	21,810,797 (GRCm39)	missense	probably damaging	1.00
R6997:Usp45	UTSW	4	21,781,844 (GRCm39)	missense	probably damaging	1.00
R7504:Usp45	UTSW	4	21,816,892 (GRCm39)	missense	possibly damaging	0.65
R7750:Usp45	UTSW	4	21,780,430 (GRCm39)	missense	probably damaging	1.00
R7992:Usp45	UTSW	4	21,824,543 (GRCm39)	missense	probably benign	0.02
R8043:Usp45	UTSW	4	21,824,543 (GRCm39)	missense	probably benign	0.02
R8233:Usp45	UTSW	4	21,781,736 (GRCm39)	missense	probably benign	0.33
R8237:Usp45	UTSW	4	21,834,274 (GRCm39)	missense	probably damaging	0.98
R8868:Usp45	UTSW	4	21,815,399 (GRCm39)	critical splice donor site	probably null
R8883:Usp45	UTSW	4	21,825,006 (GRCm39)	missense	probably damaging	1.00
R9036:Usp45	UTSW	4	21,832,201 (GRCm39)	missense	probably damaging	1.00
R9307:Usp45	UTSW	4	21,824,998 (GRCm39)	missense	probably damaging	1.00
R9338:Usp45	UTSW	4	21,784,755 (GRCm39)	missense	probably damaging	1.00
Z1176:Usp45	UTSW	4	21,817,613 (GRCm39)	missense	possibly damaging	0.65
Z1176:Usp45	UTSW	4	21,796,847 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CAGAAGTTGTCAACTGCATACC -3'
(R):5'- AGCACTTAATGTCTTCCGAGGC -3'

Sequencing Primer
(F):5'- AGTTGTCAACTGCATACCTTATATG -3'
(R):5'- AATGTCTTCCGAGGCAATTTGAG -3'

Posted On

2019-10-17