Mutagenetix > Incidental Mutation

Incidental Mutation 'R4766:Usp45'

366127

Institutional Source

Beutler Lab

Gene Symbol

Usp45

Ensembl Gene

ENSMUSG00000040455

Gene Name

ubiquitin specific petidase 45

Synonyms

4930550B20Rik, Gcap7, 3110003C05Rik

MMRRC Submission

042407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21767161-21837872 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21797307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 76 (T76A)

Ref Sequence

ENSEMBL: ENSMUSP00000128859 (fasta)

Gene Model

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

AlphaFold

Q8K387

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040429
AA Change: T212A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048324
Gene: ENSMUSG00000040455
AA Change: T212A

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

possibly damaging
Transcript: ENSMUST00000065111
AA Change: T212A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067109
Gene: ENSMUSG00000040455
AA Change: T212A

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

possibly damaging
Transcript: ENSMUST00000108232
AA Change: T212A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103867
Gene: ENSMUSG00000040455
AA Change: T212A

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

unknown
Transcript: ENSMUST00000137293
AA Change: T178A

SMART Domains

Protein: ENSMUSP00000125982
Gene: ENSMUSG00000040455
AA Change: T178A

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: T211A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127194
Gene: ENSMUSG00000040455
AA Change: T211A

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 damaging
Transcript: ENSMUST00000148647
AA Change: T76A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128859
Gene: ENSMUSG00000040455
AA Change: T76A

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

Meta Mutation Damage Score

0.5752

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,245,502 (GRCm39)	V1584I	probably benign	Het
Adamts12	A	G	15: 11,285,987 (GRCm39)	D732G	probably benign	Het
Agpat4	A	G	17: 12,370,637 (GRCm39)		probably benign	Het
AI182371	T	C	2: 34,985,829 (GRCm39)	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,519,133 (GRCm39)	T316S	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bard1	T	C	1: 71,114,333 (GRCm39)	E216G	probably benign	Het
Bdp1	C	A	13: 100,186,376 (GRCm39)	R1692L	probably damaging	Het
Capn10	T	C	1: 92,871,141 (GRCm39)	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,158,979 (GRCm39)	M653I	probably benign	Het
Ccdc9b	C	A	2: 118,590,058 (GRCm39)	R262L	probably damaging	Het
Ccr8	G	A	9: 119,923,530 (GRCm39)	C215Y	probably damaging	Het
Cct3	T	A	3: 88,219,092 (GRCm39)	L241*	probably null	Het
Cd2ap	A	T	17: 43,163,350 (GRCm39)	I25N	probably damaging	Het
Cdh19	T	C	1: 110,820,990 (GRCm39)	K583E	probably benign	Het
Cela3a	A	G	4: 137,129,986 (GRCm39)	S212P	unknown	Het
Cfap44	T	A	16: 44,236,246 (GRCm39)		probably null	Het
Clca3a1	A	T	3: 144,455,473 (GRCm39)	L440Q	probably damaging	Het
Crybg2	A	G	4: 133,816,663 (GRCm39)	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,445,188 (GRCm39)	D1501G	probably benign	Het
Eml6	C	A	11: 29,755,757 (GRCm39)	L832F	probably benign	Het
Enpp3	A	G	10: 24,649,825 (GRCm39)	L867P	probably damaging	Het
Erbb3	A	G	10: 128,422,107 (GRCm39)	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,033,384 (GRCm39)	I342T	possibly damaging	Het
Flvcr1	A	T	1: 190,753,303 (GRCm39)	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191 (GRCm39)		probably benign	Het
Gad2	C	T	2: 22,512,679 (GRCm39)	A2V	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073 (GRCm39)		probably benign	Het
Herc1	T	G	9: 66,349,211 (GRCm39)	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,649,801 (GRCm39)	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,078,302 (GRCm39)		probably benign	Het
Iqcf3	A	G	9: 106,438,148 (GRCm39)		probably null	Het
Kcna4	G	A	2: 107,126,888 (GRCm39)	V541M	probably damaging	Het
Kcnj11	T	C	7: 45,749,240 (GRCm39)	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,236,016 (GRCm39)	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,374,535 (GRCm39)		probably benign	Het
Krt1c	T	C	15: 101,722,395 (GRCm39)	E430G	probably damaging	Het
Lins1	C	T	7: 66,360,389 (GRCm39)	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mfge8	T	C	7: 78,784,273 (GRCm39)	N389D	probably damaging	Het
Mug1	C	T	6: 121,861,213 (GRCm39)	T1278I	probably benign	Het
Myh9	T	C	15: 77,692,077 (GRCm39)	M161V	probably damaging	Het
Myl7	T	A	11: 5,848,171 (GRCm39)	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,096,706 (GRCm39)		unknown	Het
Nol3	A	G	8: 106,008,565 (GRCm39)		probably null	Het
Nup85	T	A	11: 115,468,751 (GRCm39)		probably null	Het
Obscn	T	A	11: 58,903,568 (GRCm39)	T7619S	probably damaging	Het
Or2t49	T	A	11: 58,392,494 (GRCm39)	N296I	probably damaging	Het
Or4k48	T	C	2: 111,476,226 (GRCm39)	M39V	probably benign	Het
Or52a24	C	T	7: 103,381,457 (GRCm39)	T108I	possibly damaging	Het
Or7g26	G	A	9: 19,230,141 (GRCm39)	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494 (GRCm39)	I184F	probably damaging	Het
Pcdha7	T	A	18: 37,107,560 (GRCm39)	V195D	probably damaging	Het
Phf3	A	T	1: 30,853,020 (GRCm39)		probably benign	Het
Pla2g15	G	T	8: 106,889,703 (GRCm39)	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,880,043 (GRCm39)	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016 (GRCm39)	I965V	probably benign	Het
Ptpru	A	G	4: 131,548,275 (GRCm39)	V74A	probably damaging	Het
Rif1	T	A	2: 51,988,946 (GRCm39)	Y780N	probably damaging	Het
Rps25	T	A	9: 44,320,046 (GRCm39)	Y23N	possibly damaging	Het
Ryr1	T	C	7: 28,785,258 (GRCm39)	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,359,319 (GRCm39)		probably null	Het
Senp1	T	C	15: 97,943,777 (GRCm39)	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,260,811 (GRCm39)	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,857,635 (GRCm39)	T836M	probably benign	Het
Slfn4	T	G	11: 83,077,647 (GRCm39)	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,595,254 (GRCm39)	T377I	probably benign	Het
Spdye4b	T	C	5: 143,182,089 (GRCm39)	F129S	probably damaging	Het
Sspo	G	A	6: 48,447,514 (GRCm39)	G2360E	probably benign	Het
Taar2	A	T	10: 23,816,669 (GRCm39)	I70F	probably damaging	Het
Taar7e	A	G	10: 23,914,464 (GRCm39)	N318S	probably damaging	Het
Tor1a	C	A	2: 30,857,742 (GRCm39)	R42L	probably benign	Het
Trdn	A	T	10: 33,350,502 (GRCm39)	Q690H	probably benign	Het
Trim56	C	A	5: 137,141,579 (GRCm39)	V646L	probably benign	Het
Tspan15	T	A	10: 62,027,323 (GRCm39)	K165I	probably benign	Het
Usp24	A	G	4: 106,273,245 (GRCm39)	Y2210C	probably damaging	Het
Vps13c	T	A	9: 67,785,506 (GRCm39)		probably null	Het
Zfp512b	T	C	2: 181,226,888 (GRCm39)		probably benign	Het
Zyx	C	A	6: 42,333,093 (GRCm39)		probably null	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
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
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'- TGATGGTGTTGCACTCAGC -3'
(R):5'- TGTTTTAGAGACCTCTGACCAC -3'

Sequencing Primer
(F):5'- TCAGCAGTGCTACCTGGAAGTC -3'
(R):5'- TAGAGACCTCTGACCACATTTGG -3'

Posted On

2015-12-21