Mutagenetix > Incidental Mutations

Incidental Mutation 'R6150:Usp45'

489175

Institutional Source

Beutler Lab

Gene Symbol

Usp45

Ensembl Gene

ENSMUSG00000040455

Gene Name

ubiquitin specific petidase 45

Synonyms

Gcap7, 3110003C05Rik, 4930550B20Rik

MMRRC Submission

044297-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21767156-21837872 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21810797 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 331 (D331A)

Ref Sequence

ENSEMBL: ENSMUSP00000103867 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040429
AA Change: D331A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048324
Gene: ENSMUSG00000040455
AA Change: D331A

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 damaging
Transcript: ENSMUST00000065111
AA Change: D331A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
AA Change: D331A

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 damaging
Transcript: ENSMUST00000108232
AA Change: D331A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103867
Gene: ENSMUSG00000040455
AA Change: D331A

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

probably benign
Transcript: ENSMUST00000137293

SMART Domains

Protein: ENSMUSP00000125982
Gene: ENSMUSG00000040455

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: ENSMUST00000148647

SMART Domains

Protein: ENSMUSP00000128859
Gene: ENSMUSG00000040455

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

Meta Mutation Damage Score

0.5023

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,213,508	T74A	probably benign	Het
Arhgef1	T	C	7: 24,919,357		probably null	Het
Art1	C	G	7: 102,107,087	R162G	probably benign	Het
Boll	T	A	1: 55,270,653	I280F	possibly damaging	Het
Cep44	T	C	8: 56,539,805	E258G	probably benign	Het
Cutc	T	A	19: 43,759,889	V75E	probably damaging	Het
Dtx1	T	C	5: 120,681,363	K590R	probably damaging	Het
Eps8	A	T	6: 137,517,174	D295E	probably damaging	Het
Erc2	C	A	14: 28,141,291	S491Y	probably damaging	Het
F2rl3	G	T	8: 72,762,738	A198S	probably benign	Het
Fam83b	G	A	9: 76,492,357	T488M	probably damaging	Het
Fitm2	A	G	2: 163,470,074	L73P	probably damaging	Het
Fxyd1	T	C	7: 31,054,803		probably null	Het
Gm17186	T	C	14: 51,680,726		noncoding transcript	Het
Hivep3	C	A	4: 119,734,077	S94*	probably null	Het
Ifna1	T	A	4: 88,850,112	M9K	probably null	Het
Igsf11	G	A	16: 39,023,349	E275K	probably damaging	Het
Itga1	G	A	13: 114,968,233	L1086F	probably benign	Het
Itgav	T	C	2: 83,776,436	S374P	probably benign	Het
Jmy	A	T	13: 93,441,133	N842K	probably benign	Het
Kcnh6	G	A	11: 106,020,731	V595M	possibly damaging	Het
Kif13b	T	A	14: 64,751,639	I823N	probably damaging	Het
Kif26b	T	C	1: 178,915,546	L1069P	probably damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,588,477		probably benign	Het
Map10	G	A	8: 125,671,589	D574N	probably damaging	Het
Mau2	A	T	8: 70,019,837	H565Q	probably benign	Het
Myb	A	G	10: 21,141,769	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,552,050	G15V	probably null	Het
Olfr370	G	A	8: 83,541,153	C3Y	probably benign	Het
Olfr399	A	C	11: 74,054,319	S147A	probably benign	Het
Olfr800	A	G	10: 129,659,934	I43V	probably benign	Het
Olfr867	A	T	9: 20,054,874	N78K	probably benign	Het
Otog	A	G	7: 46,264,059	E772G	possibly damaging	Het
Pla2g4d	T	C	2: 120,269,564	D674G	probably damaging	Het
Pmpcb	A	G	5: 21,737,139		probably null	Het
Pomk	A	G	8: 25,983,256	V223A	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Serpina1e	A	G	12: 103,950,807	V201A	probably benign	Het
Six5	C	T	7: 19,097,521	P646S	probably benign	Het
Slc17a9	A	G	2: 180,737,628	I298V	probably benign	Het
Slc37a2	G	T	9: 37,238,347	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,245,618	F525I	probably benign	Het
Slit2	A	T	5: 48,304,174	D1504V	probably damaging	Het
Srcap	T	A	7: 127,534,828	M907K	probably damaging	Het
Sspo	T	C	6: 48,486,379	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,435,722	N376K	possibly damaging	Het
Tekt3	A	T	11: 63,094,657	T430S	possibly damaging	Het
Tex2	A	T	11: 106,567,080	V508D	probably benign	Het
Tmem184c	G	T	8: 77,596,440	Q598K	probably benign	Het
Ube2v1	G	A	2: 167,617,954	R42*	probably null	Het
Vangl1	T	C	3: 102,184,519	T84A	probably damaging	Het
Vgll3	T	A	16: 65,828,178		probably null	Het
Vmn1r61	T	A	7: 5,610,679	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,291,295	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,786,556	D727E	probably damaging	Het
Vps18	T	A	2: 119,297,592	Y965*	probably null	Het
Zfp521	A	T	18: 13,844,078	C1093S	probably damaging	Het
Zfp971	A	C	2: 178,033,454	H282P	probably benign	Het

Other mutations in Usp45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02040:Usp45	APN	4	21830433	missense	probably benign	0.38
IGL02053:Usp45	APN	4	21824553	missense	probably benign	0.43
IGL02155:Usp45	APN	4	21798743	splice site	probably null
R0285:Usp45	UTSW	4	21798603	critical splice acceptor site	probably null
R1260:Usp45	UTSW	4	21826204	missense	probably damaging	1.00
R1495:Usp45	UTSW	4	21797385	missense	possibly damaging	0.82
R1888:Usp45	UTSW	4	21784811	intron	probably benign
R2444:Usp45	UTSW	4	21817528	missense	probably benign	0.00
R2906:Usp45	UTSW	4	21834338	nonsense	probably null
R4058:Usp45	UTSW	4	21810746	missense	probably damaging	1.00
R4357:Usp45	UTSW	4	21834350	nonsense	probably null
R4386:Usp45	UTSW	4	21830505	critical splice donor site	probably null
R4648:Usp45	UTSW	4	21825044	missense	probably benign	0.12
R4766:Usp45	UTSW	4	21797307	missense	probably damaging	0.98
R4787:Usp45	UTSW	4	21796860	missense	probably benign
R4973:Usp45	UTSW	4	21815372	missense	probably damaging	1.00
R5152:Usp45	UTSW	4	21824815	missense	probably benign	0.41
R5900:Usp45	UTSW	4	21830451	missense	probably damaging	1.00
R5960:Usp45	UTSW	4	21810797	missense	probably damaging	1.00
R5961:Usp45	UTSW	4	21810797	missense	probably damaging	1.00
R6149:Usp45	UTSW	4	21810797	missense	probably damaging	1.00
R6151:Usp45	UTSW	4	21810797	missense	probably damaging	1.00
R6997:Usp45	UTSW	4	21781844	missense	probably damaging	1.00
R7504:Usp45	UTSW	4	21816892	missense	possibly damaging	0.65
R7565:Usp45	UTSW	4	21784790	missense	probably benign	0.00
R7750:Usp45	UTSW	4	21780430	missense	probably damaging	1.00
R7992:Usp45	UTSW	4	21824543	missense	probably benign	0.02
R8043:Usp45	UTSW	4	21824543	missense	probably benign	0.02
R8233:Usp45	UTSW	4	21781736	missense	probably benign	0.33
R8237:Usp45	UTSW	4	21834274	missense	probably damaging	0.98
Z1176:Usp45	UTSW	4	21796847	missense	possibly damaging	0.87
Z1176:Usp45	UTSW	4	21817613	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- GCAAGGCTCAGTCTTACAAAAC -3'
(R):5'- AAGGAGAGGCTTTACGACCC -3'

Sequencing Primer
(F):5'- AGGCTCAGTCTTACAAAACAATTC -3'
(R):5'- CACAGTGGCTGGAAGTTCCTG -3'

Posted On

2017-10-10