Mutagenetix > Incidental Mutation

Incidental Mutation 'R5465:Usp47'

433209

Institutional Source

Beutler Lab

Gene Symbol

Usp47

Ensembl Gene

ENSMUSG00000059263

Gene Name

ubiquitin specific peptidase 47

Synonyms

A630020C16Rik, 4930502N04Rik

MMRRC Submission

043026-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R5465 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111622692-111710591 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111658209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 176 (T176M)

Ref Sequence

ENSEMBL: ENSMUSP00000151051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106653] [ENSMUST00000210309] [ENSMUST00000215510]

AlphaFold

Q8BY87

Predicted Effect

probably damaging
Transcript: ENSMUST00000106653
AA Change: T176M

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

SMART Domains

Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: T176M

Domain	Start	End	E-Value	Type
Pfam:UCH	167	541	1.2e-50	PFAM
Pfam:UCH_1	168	507	5.1e-31	PFAM
coiled coil region	554	586	N/A	INTRINSIC
low complexity region	859	880	N/A	INTRINSIC
low complexity region	934	950	N/A	INTRINSIC
Pfam:Ubiquitin_2	1026	1095	1.9e-3	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210309
AA Change: T196M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211791

Predicted Effect

probably damaging
Transcript: ENSMUST00000215510
AA Change: T176M

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aplp1	T	C	7: 30,136,277 (GRCm39)	D500G	probably benign	Het
Atg7	G	A	6: 114,629,493 (GRCm39)	G4R	probably benign	Het
Atp11b	G	A	3: 35,864,333 (GRCm39)	V302I	probably benign	Het
Cacna1b	C	T	2: 24,540,438 (GRCm39)		probably null	Het
Ccna1	T	C	3: 54,953,065 (GRCm39)	H234R	probably benign	Het
Cplx2	G	A	13: 54,527,352 (GRCm39)	E79K	possibly damaging	Het
Dnai4	T	A	4: 102,906,758 (GRCm39)	D685V	probably damaging	Het
Gnb2	A	G	5: 137,526,775 (GRCm39)	I380T	probably damaging	Het
Gpr162	A	T	6: 124,838,134 (GRCm39)	V172D	probably damaging	Het
Gtf2a1	A	C	12: 91,534,565 (GRCm39)	F191V	possibly damaging	Het
Ift172	A	T	5: 31,418,862 (GRCm39)		probably null	Het
Khdrbs2	T	C	1: 32,658,255 (GRCm39)	Y272H	probably damaging	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Map1a	T	C	2: 121,136,506 (GRCm39)	S2203P	probably damaging	Het
Map3k1	A	T	13: 111,892,654 (GRCm39)	L867Q	probably benign	Het
Ncapd2	A	T	6: 125,153,746 (GRCm39)	F656L	probably damaging	Het
Or51f5	A	G	7: 102,424,640 (GRCm39)	K303R	probably benign	Het
Or5b109	T	C	19: 13,212,052 (GRCm39)	I146T	probably benign	Het
Or7c70	T	C	10: 78,682,852 (GRCm39)	K299R	probably benign	Het
Pcdhb6	A	T	18: 37,467,783 (GRCm39)	I235F	probably damaging	Het
Pzp	A	G	6: 128,463,924 (GRCm39)	S1395P	probably damaging	Het
Ralgapb	C	A	2: 158,290,325 (GRCm39)	T412N	possibly damaging	Het
Rtn4r	A	T	16: 17,969,291 (GRCm39)	M240L	probably benign	Het
Slit2	C	T	5: 48,407,254 (GRCm39)	T895I	probably damaging	Het
Slx4ip	T	G	2: 136,846,867 (GRCm39)	L44R	probably damaging	Het
Sptbn2	C	A	19: 4,800,133 (GRCm39)	Q2196K	probably benign	Het
Tbc1d16	G	A	11: 119,046,885 (GRCm39)	S454L	probably benign	Het
Tet1	T	C	10: 62,675,556 (GRCm39)	H840R	probably benign	Het
Utp6	A	T	11: 79,839,836 (GRCm39)	I284N	probably benign	Het
Vcpip1	T	C	1: 9,817,372 (GRCm39)	H337R	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in Usp47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Usp47	APN	7	111,673,990 (GRCm39)	missense	probably benign	0.00
IGL00574:Usp47	APN	7	111,662,542 (GRCm39)	missense	probably damaging	1.00
IGL00975:Usp47	APN	7	111,692,577 (GRCm39)	missense	probably damaging	1.00
IGL01289:Usp47	APN	7	111,662,565 (GRCm39)	missense	probably damaging	1.00
IGL01419:Usp47	APN	7	111,687,118 (GRCm39)	missense	possibly damaging	0.94
IGL01645:Usp47	APN	7	111,654,069 (GRCm39)	missense	probably damaging	0.96
IGL01871:Usp47	APN	7	111,676,993 (GRCm39)	splice site	probably benign
IGL02066:Usp47	APN	7	111,663,604 (GRCm39)	missense	probably damaging	1.00
IGL02122:Usp47	APN	7	111,706,115 (GRCm39)	missense	probably damaging	0.97
IGL02153:Usp47	APN	7	111,703,256 (GRCm39)	missense	probably benign	0.00
IGL02550:Usp47	APN	7	111,703,561 (GRCm39)	missense	probably damaging	1.00
IGL02710:Usp47	APN	7	111,692,132 (GRCm39)	missense	probably benign	0.01
IGL02756:Usp47	APN	7	111,692,270 (GRCm39)	missense	possibly damaging	0.76
IGL03093:Usp47	APN	7	111,688,827 (GRCm39)	missense	probably damaging	1.00
IGL03398:Usp47	APN	7	111,673,710 (GRCm39)	missense	probably damaging	1.00
0152:Usp47	UTSW	7	111,655,784 (GRCm39)	missense	probably damaging	0.96
PIT4142001:Usp47	UTSW	7	111,703,548 (GRCm39)	splice site	probably benign
R0110:Usp47	UTSW	7	111,655,787 (GRCm39)	missense	possibly damaging	0.88
R0381:Usp47	UTSW	7	111,662,600 (GRCm39)	critical splice donor site	probably null
R0450:Usp47	UTSW	7	111,655,787 (GRCm39)	missense	possibly damaging	0.88
R0634:Usp47	UTSW	7	111,707,862 (GRCm39)	missense	probably damaging	1.00
R0881:Usp47	UTSW	7	111,690,643 (GRCm39)	missense	possibly damaging	0.51
R1178:Usp47	UTSW	7	111,709,205 (GRCm39)	missense	possibly damaging	0.68
R1447:Usp47	UTSW	7	111,673,775 (GRCm39)	critical splice donor site	probably null
R1640:Usp47	UTSW	7	111,682,334 (GRCm39)	missense	probably damaging	0.99
R1727:Usp47	UTSW	7	111,685,307 (GRCm39)	missense	probably damaging	0.96
R1866:Usp47	UTSW	7	111,701,077 (GRCm39)	missense	possibly damaging	0.93
R1876:Usp47	UTSW	7	111,654,127 (GRCm39)	missense	probably damaging	0.99
R1953:Usp47	UTSW	7	111,692,083 (GRCm39)	missense	probably benign	0.26
R2117:Usp47	UTSW	7	111,666,443 (GRCm39)	critical splice donor site	probably null
R2176:Usp47	UTSW	7	111,691,934 (GRCm39)	missense	probably benign	0.00
R2187:Usp47	UTSW	7	111,666,398 (GRCm39)	missense	probably damaging	1.00
R2504:Usp47	UTSW	7	111,703,677 (GRCm39)	critical splice donor site	probably null
R2902:Usp47	UTSW	7	111,692,658 (GRCm39)	missense	probably damaging	1.00
R2922:Usp47	UTSW	7	111,692,405 (GRCm39)	missense	probably damaging	1.00
R2939:Usp47	UTSW	7	111,681,743 (GRCm39)	missense	probably damaging	1.00
R4065:Usp47	UTSW	7	111,652,623 (GRCm39)	missense	probably benign	0.30
R4179:Usp47	UTSW	7	111,687,091 (GRCm39)	missense	probably damaging	1.00
R4235:Usp47	UTSW	7	111,709,255 (GRCm39)	missense	probably damaging	0.99
R4243:Usp47	UTSW	7	111,707,836 (GRCm39)	missense	probably damaging	1.00
R4281:Usp47	UTSW	7	111,709,200 (GRCm39)	missense	probably benign	0.03
R4360:Usp47	UTSW	7	111,654,139 (GRCm39)	missense	probably damaging	1.00
R4604:Usp47	UTSW	7	111,701,038 (GRCm39)	missense	probably damaging	1.00
R4857:Usp47	UTSW	7	111,681,759 (GRCm39)	missense	probably damaging	1.00
R5133:Usp47	UTSW	7	111,683,089 (GRCm39)	missense	probably damaging	1.00
R5179:Usp47	UTSW	7	111,692,639 (GRCm39)	missense	probably damaging	1.00
R5322:Usp47	UTSW	7	111,652,476 (GRCm39)	missense	probably damaging	0.99
R5445:Usp47	UTSW	7	111,673,928 (GRCm39)	missense	probably damaging	1.00
R5699:Usp47	UTSW	7	111,709,204 (GRCm39)	missense	probably benign	0.00
R5961:Usp47	UTSW	7	111,652,523 (GRCm39)	missense	probably damaging	1.00
R6117:Usp47	UTSW	7	111,687,139 (GRCm39)	missense	probably damaging	0.98
R6271:Usp47	UTSW	7	111,686,263 (GRCm39)	missense	probably damaging	1.00
R7155:Usp47	UTSW	7	111,686,220 (GRCm39)	missense	probably damaging	0.97
R7229:Usp47	UTSW	7	111,692,084 (GRCm39)	missense	probably benign	0.04
R7246:Usp47	UTSW	7	111,715,116 (GRCm39)
R7285:Usp47	UTSW	7	111,692,315 (GRCm39)	missense	probably benign	0.02
R7938:Usp47	UTSW	7	111,687,132 (GRCm39)	missense	probably damaging	0.99
R8079:Usp47	UTSW	7	111,646,177 (GRCm39)	missense	probably damaging	1.00
R8114:Usp47	UTSW	7	111,692,394 (GRCm39)	missense	probably damaging	1.00
R8141:Usp47	UTSW	7	111,652,472 (GRCm39)	missense	possibly damaging	0.60
R8172:Usp47	UTSW	7	111,687,133 (GRCm39)	nonsense	probably null
R8223:Usp47	UTSW	7	111,703,583 (GRCm39)	missense	probably damaging	1.00
R8510:Usp47	UTSW	7	111,658,208 (GRCm39)	missense	probably damaging	1.00
R8701:Usp47	UTSW	7	111,692,402 (GRCm39)	missense	probably damaging	1.00
R9106:Usp47	UTSW	7	111,681,713 (GRCm39)	missense	probably damaging	1.00
R9135:Usp47	UTSW	7	111,652,431 (GRCm39)	missense	probably benign	0.30
R9311:Usp47	UTSW	7	111,703,257 (GRCm39)	missense	probably benign	0.02
R9417:Usp47	UTSW	7	111,688,801 (GRCm39)	missense	possibly damaging	0.86
R9487:Usp47	UTSW	7	111,677,063 (GRCm39)	missense	probably damaging	0.99
R9628:Usp47	UTSW	7	111,705,999 (GRCm39)	missense	probably benign	0.01
RF010:Usp47	UTSW	7	111,692,145 (GRCm39)	missense	probably damaging	0.99
X0027:Usp47	UTSW	7	111,687,054 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGAGCTTTCTTAAGTGGCATTG -3'
(R):5'- CTTTTATGTCAGTCTTTCGGTAGAC -3'

Sequencing Primer
(F):5'- GTGTTTTAGCCCAAGTGC -3'
(R):5'- CGGTAGACTCTTGTTCATATA -3'

Posted On

2016-10-06