Mutagenetix > Incidental Mutation

Incidental Mutation 'R9307:Usp45'

705260

Institutional Source

Beutler Lab

Gene Symbol

Usp45

Ensembl Gene

ENSMUSG00000040455

Gene Name

ubiquitin specific petidase 45

Synonyms

4930550B20Rik, Gcap7, 3110003C05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21767161-21837872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21824998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 583 (L583F)

Ref Sequence

ENSEMBL: ENSMUSP00000048324 (fasta)

Gene Model

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

AlphaFold

Q8K387

Predicted Effect

probably damaging
Transcript: ENSMUST00000040429
AA Change: L583F

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

SMART Domains

Protein: ENSMUSP00000048324
Gene: ENSMUSG00000040455
AA Change: L583F

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: L631F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
AA Change: L631F

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: L631F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103867
Gene: ENSMUSG00000040455
AA Change: L631F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,183 (GRCm39)	D124A	probably benign	Het
Acd	T	C	8: 106,425,514 (GRCm39)	D273G	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam15	T	C	3: 89,254,790 (GRCm39)	D90G	possibly damaging	Het
Adam2	A	T	14: 66,287,921 (GRCm39)	C392S	probably damaging	Het
Adam23	T	A	1: 63,576,131 (GRCm39)	N304K	probably damaging	Het
Adam34l	A	C	8: 44,079,304 (GRCm39)	F307V	probably benign	Het
Aldh3b3	T	C	19: 4,013,882 (GRCm39)	F28L	probably damaging	Het
Bsn	A	G	9: 107,992,993 (GRCm39)	S920P	probably benign	Het
Btc	A	G	5: 91,550,515 (GRCm39)		probably null	Het
Chchd2	A	T	5: 129,916,054 (GRCm39)	V12E	probably benign	Het
Chia1	A	G	3: 106,035,991 (GRCm39)		probably benign	Het
Chil4	A	T	3: 106,111,382 (GRCm39)		probably null	Het
Clock	A	G	5: 76,364,671 (GRCm39)	F815L	unknown	Het
Cmtr2	C	T	8: 110,949,712 (GRCm39)	T674M	probably benign	Het
Cnbd1	A	C	4: 18,887,647 (GRCm39)	I289R	probably damaging	Het
Cog2	A	T	8: 125,253,837 (GRCm39)		probably null	Het
Col13a1	T	C	10: 61,703,248 (GRCm39)	I454V	unknown	Het
Cyct	T	A	2: 76,184,457 (GRCm39)	Y98F	probably benign	Het
Dcaf6	T	C	1: 165,227,236 (GRCm39)	E297G	possibly damaging	Het
Dgka	T	C	10: 128,567,046 (GRCm39)	H271R	probably damaging	Het
Dnah9	T	A	11: 65,976,300 (GRCm39)	I1250F	probably benign	Het
Dock4	T	C	12: 40,686,155 (GRCm39)	L130P	probably damaging	Het
Dpyd	G	A	3: 119,108,560 (GRCm39)	V868I	probably benign	Het
Dync1li1	T	A	9: 114,535,076 (GRCm39)	D113E	probably damaging	Het
Fat3	T	C	9: 15,932,719 (GRCm39)	K1405E	probably damaging	Het
Fbn2	A	G	18: 58,342,856 (GRCm39)	C8R	probably benign	Het
Frmd4a	A	G	2: 4,609,044 (GRCm39)	M971V	probably benign	Het
Glyatl3	C	T	17: 41,223,553 (GRCm39)		probably null	Het
Grip1	A	T	10: 119,821,454 (GRCm39)	H373L	probably benign	Het
Ins1	T	C	19: 52,253,258 (GRCm39)	L66P	possibly damaging	Het
Kif21b	A	T	1: 136,101,800 (GRCm39)	I1616L	probably benign	Het
Map7d1	A	G	4: 126,128,024 (GRCm39)	M637T	unknown	Het
Mc2r	A	T	18: 68,540,636 (GRCm39)	M219K	probably benign	Het
Mcpt1	A	G	14: 56,256,867 (GRCm39)	D135G	possibly damaging	Het
Mturn	T	C	6: 54,676,541 (GRCm39)		probably null	Het
Mutyh	T	A	4: 116,674,074 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,984,397 (GRCm39)	D1078G	possibly damaging	Het
Or4d5	T	C	9: 40,012,451 (GRCm39)	I112V	probably benign	Het
Pcdha12	A	G	18: 37,153,874 (GRCm39)	K198E	probably damaging	Het
Pcf11	A	T	7: 92,306,534 (GRCm39)	N1211K	possibly damaging	Het
Piezo1	G	A	8: 123,213,832 (GRCm39)	P1711S		Het
Pkd1	T	A	17: 24,769,451 (GRCm39)	L72Q	possibly damaging	Het
Pramel20	C	A	4: 143,299,314 (GRCm39)	L326I	probably damaging	Het
Prss12	A	G	3: 123,299,049 (GRCm39)	D607G	probably benign	Het
R3hdml	T	C	2: 163,344,372 (GRCm39)	*254R	probably null	Het
Rasal3	TTGGACCTGAGTGGA	TTGGA	17: 32,612,502 (GRCm39)	782	probably null	Het
Relch	A	T	1: 105,615,077 (GRCm39)	Y272F	probably benign	Het
Rev3l	C	T	10: 39,693,149 (GRCm39)	P410S	probably benign	Het
Sec14l2	A	G	11: 4,068,665 (GRCm39)	V5A	probably benign	Het
Slc12a3	A	C	8: 95,061,625 (GRCm39)	I291L	probably benign	Het
Slc4a10	T	C	2: 62,083,662 (GRCm39)	F372L	probably damaging	Het
Spta1	T	C	1: 174,035,978 (GRCm39)	W1095R	probably damaging	Het
Synj1	T	C	16: 90,785,095 (GRCm39)	T254A	probably damaging	Het
Taar2	T	C	10: 23,817,237 (GRCm39)	F259S	probably damaging	Het
Tns2	C	A	15: 102,018,996 (GRCm39)	L396I	probably damaging	Het
Tom1l1	TTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTG	11: 90,540,648 (GRCm39)		probably benign	Het
Traf5	T	C	1: 191,747,033 (GRCm39)	D96G	probably damaging	Het
Trgv3	A	G	13: 19,427,441 (GRCm39)	E108G	probably damaging	Het
Trpv6	A	G	6: 41,602,378 (GRCm39)	V336A	probably benign	Het
Utrn	T	C	10: 12,554,475 (GRCm39)	D1538G	probably benign	Het
Vmn1r209	T	A	13: 22,990,072 (GRCm39)	H206L	probably damaging	Het
Zfp51	T	A	17: 21,684,733 (GRCm39)	H449Q	probably benign	Het
Zfp653	G	A	9: 21,969,321 (GRCm39)	S315F	possibly damaging	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
R7565:Usp45	UTSW	4	21,784,790 (GRCm39)	missense	probably benign	0.00
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
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'- TGGCAATAGAGATTTCCACAGG -3'
(R):5'- CCCAAGTAGAACAAGGCCTG -3'

Sequencing Primer
(F):5'- GGGAAAAACAGCCACTAAATGTC -3'
(R):5'- GCAGGCAATGAGCTGTTT -3'

Posted On

2022-03-25