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

Gcap7, 3110003C05Rik, 4930550B20Rik

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

21767156-21837872 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21797307 bp (GRCm38)

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: 113,097,636	V1584I	probably benign	Het
A430105I19Rik	C	A	2: 118,759,577	R262L	probably damaging	Het
Adamts12	A	G	15: 11,285,901	D732G	probably benign	Het
Agpat4	A	G	17: 12,151,750		probably benign	Het
AI182371	T	C	2: 35,095,817	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,634,933	T316S	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bard1	T	C	1: 71,075,174	E216G	probably benign	Het
Bdp1	C	A	13: 100,049,868	R1692L	probably damaging	Het
Capn10	T	C	1: 92,943,419	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,112,205	M653I	probably benign	Het
Ccr8	G	A	9: 120,094,464	C215Y	probably damaging	Het
Cct3	T	A	3: 88,311,785	L241*	probably null	Het
Cd2ap	A	T	17: 42,852,459	I25N	probably damaging	Het
Cdh19	T	C	1: 110,893,260	K583E	probably benign	Het
Cela3a	A	G	4: 137,402,675	S212P	unknown	Het
Cfap44	T	A	16: 44,415,883		probably null	Het
Clca3a1	A	T	3: 144,749,712	L440Q	probably damaging	Het
Crybg2	A	G	4: 134,089,352	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,643,988	D1501G	probably benign	Het
Eml6	C	A	11: 29,805,757	L832F	probably benign	Het
Enpp3	A	G	10: 24,773,927	L867P	probably damaging	Het
Erbb3	A	G	10: 128,586,238	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,056,020	I342T	possibly damaging	Het
Flvcr1	A	T	1: 191,021,106	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191		probably benign	Het
Gad2	C	T	2: 22,622,667	A2V	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073		probably benign	Het
Herc1	T	G	9: 66,441,929	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,742,485	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,257,939		probably benign	Het
Iqcf3	A	G	9: 106,560,949		probably null	Het
Kcna4	G	A	2: 107,296,543	V541M	probably damaging	Het
Kcnj11	T	C	7: 46,099,816	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,181,867	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,324,507		probably benign	Het
Krt2	T	C	15: 101,813,960	E430G	probably damaging	Het
Lins1	C	T	7: 66,710,641	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mfge8	T	C	7: 79,134,525	N389D	probably damaging	Het
Mug1	C	T	6: 121,884,254	T1278I	probably benign	Het
Myh9	T	C	15: 77,807,877	M161V	probably damaging	Het
Myl7	T	A	11: 5,898,171	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,362,779		unknown	Het
Nol3	A	G	8: 105,281,933		probably null	Het
Nup85	T	A	11: 115,577,925		probably null	Het
Obscn	T	A	11: 59,012,742	T7619S	probably damaging	Het
Olfr1298	T	C	2: 111,645,881	M39V	probably benign	Het
Olfr331	T	A	11: 58,501,668	N296I	probably damaging	Het
Olfr628	C	T	7: 103,732,250	T108I	possibly damaging	Het
Olfr844	G	A	9: 19,318,845	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494	I184F	probably damaging	Het
Pcdha7	T	A	18: 36,974,507	V195D	probably damaging	Het
Phf3	A	T	1: 30,813,939		probably benign	Het
Pla2g15	G	T	8: 106,163,071	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,572,615	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016	I965V	probably benign	Het
Ptpru	A	G	4: 131,820,964	V74A	probably damaging	Het
Rif1	T	A	2: 52,098,934	Y780N	probably damaging	Het
Rps25	T	A	9: 44,408,749	Y23N	possibly damaging	Het
Ryr1	T	C	7: 29,085,833	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,452,036		probably null	Het
Senp1	T	C	15: 98,045,896	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,231,957	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,638,661	T836M	probably benign	Het
Slfn4	T	G	11: 83,186,821	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,777,390	T377I	probably benign	Het
Spdye4b	T	C	5: 143,196,334	F129S	probably damaging	Het
Sspo	G	A	6: 48,470,580	G2360E	probably benign	Het
Taar2	A	T	10: 23,940,771	I70F	probably damaging	Het
Taar7e	A	G	10: 24,038,566	N318S	probably damaging	Het
Tor1a	C	A	2: 30,967,730	R42L	probably benign	Het
Trdn	A	T	10: 33,474,506	Q690H	probably benign	Het
Trim56	C	A	5: 137,112,725	V646L	probably benign	Het
Tspan15	T	A	10: 62,191,544	K165I	probably benign	Het
Usp24	A	G	4: 106,416,048	Y2210C	probably damaging	Het
Vps13c	T	A	9: 67,878,224		probably null	Het
Zfp512b	T	C	2: 181,585,095		probably benign	Het
Zyx	C	A	6: 42,356,159		probably null	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
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
R6150: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
R8868:Usp45	UTSW	4	21815399	critical splice donor site	probably null
R8883:Usp45	UTSW	4	21825006	missense	probably damaging	1.00
R9036:Usp45	UTSW	4	21832201	missense	probably damaging	1.00
R9307:Usp45	UTSW	4	21824998	missense	probably damaging	1.00
R9338:Usp45	UTSW	4	21784755	missense	probably damaging	1.00
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'- TGATGGTGTTGCACTCAGC -3'
(R):5'- TGTTTTAGAGACCTCTGACCAC -3'

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

Posted On

2015-12-21