Mutagenetix > Incidental Mutation

Incidental Mutation 'R2922:Usp47'

255578

Institutional Source

Beutler Lab

Gene Symbol

Usp47

Ensembl Gene

ENSMUSG00000059263

Gene Name

ubiquitin specific peptidase 47

Synonyms

A630020C16Rik, 4930502N04Rik

MMRRC Submission

040507-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R2922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111622692-111710591 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111692405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 956 (S956G)

Ref Sequence

ENSEMBL: ENSMUSP00000147619 (fasta)

Gene Model

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

AlphaFold

Q8BY87

Predicted Effect

probably damaging
Transcript: ENSMUST00000106653
AA Change: S936G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: S936G

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: S956G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210526

Predicted Effect

probably damaging
Transcript: ENSMUST00000215510
AA Change: S956G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.1662

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 90,009,393 (GRCm39)	D90G	possibly damaging	Het
Atp6v0a2	C	T	5: 124,794,981 (GRCm39)	T656M	possibly damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Bsn	C	T	9: 107,985,385 (GRCm39)	V2890M	unknown	Het
Bsn	T	C	9: 107,992,668 (GRCm39)	E1028G	probably damaging	Het
Ccdc116	T	C	16: 16,960,307 (GRCm39)	H170R	probably benign	Het
Cdk11b	CAGAAGAAG	CAGAAG	4: 155,725,201 (GRCm39)		probably benign	Het
Cemip2	A	G	19: 21,795,303 (GRCm39)	D732G	possibly damaging	Het
Clpb	A	G	7: 101,372,035 (GRCm39)	D257G	probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dlgap5	A	G	14: 47,627,898 (GRCm39)		probably null	Het
Dmwd	T	C	7: 18,810,270 (GRCm39)	F26L	probably damaging	Het
Eif5b	T	C	1: 38,057,100 (GRCm39)		probably benign	Het
Flii	A	G	11: 60,609,742 (GRCm39)	Y622H	probably damaging	Het
Gbp7	A	T	3: 142,240,333 (GRCm39)	E17V	probably benign	Het
Ghrh	T	C	2: 157,173,797 (GRCm39)		probably null	Het
Gm20939	T	A	17: 95,184,721 (GRCm39)	H456Q	probably damaging	Het
Golga4	T	A	9: 118,388,411 (GRCm39)	S1844R	possibly damaging	Het
Hgd	T	C	16: 37,439,330 (GRCm39)	F213L	probably damaging	Het
Hoxb1	T	C	11: 96,257,119 (GRCm39)	L156P	probably benign	Het
Itga11	A	G	9: 62,675,912 (GRCm39)		probably benign	Het
Kcnn3	T	C	3: 89,428,329 (GRCm39)	V185A	probably damaging	Het
Lrriq1	T	C	10: 103,050,536 (GRCm39)	T739A	probably benign	Het
Mib1	C	T	18: 10,760,831 (GRCm39)	Q374*	probably null	Het
Myh9	A	G	15: 77,697,384 (GRCm39)	L10P	probably damaging	Het
Ncor2	A	G	5: 125,132,855 (GRCm39)	F44S	probably damaging	Het
Nr3c1	C	A	18: 39,620,156 (GRCm39)	A44S	possibly damaging	Het
Or10n1	G	A	9: 39,525,060 (GRCm39)	V66I	probably benign	Het
Or51a43	A	G	7: 103,717,794 (GRCm39)	V148A	probably benign	Het
Ovch2	A	G	7: 107,389,596 (GRCm39)	L317P	possibly damaging	Het
Pcolce2	T	A	9: 95,576,767 (GRCm39)	L346Q	probably damaging	Het
Rdm1	T	A	11: 101,521,716 (GRCm39)	L157H	possibly damaging	Het
Rptn	A	G	3: 93,306,015 (GRCm39)	Y1116C	possibly damaging	Het
Scn7a	A	G	2: 66,530,551 (GRCm39)		probably benign	Het
Slc24a2	A	G	4: 86,909,591 (GRCm39)	V660A	possibly damaging	Het
Tet3	A	G	6: 83,345,494 (GRCm39)	S1648P	probably damaging	Het
Tmem198b	G	A	10: 128,638,062 (GRCm39)	T167I	probably damaging	Het
Tmx1	T	A	12: 70,512,895 (GRCm39)	C268S	probably benign	Het
Ubr4	A	G	4: 139,206,811 (GRCm39)	N4886S	possibly damaging	Het
Vmn2r60	T	A	7: 41,790,459 (GRCm39)	V482E	probably damaging	Het
Zfhx4	C	T	3: 5,468,724 (GRCm39)	P2986S	probably damaging	Het
Zfp507	T	C	7: 35,494,224 (GRCm39)	E273G	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
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
R5465:Usp47	UTSW	7	111,658,209 (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'- ACTGAAAAGCTTGTCACTGCAG -3'
(R):5'- TTCTTCAGCTGTGTCCCAGG -3'

Sequencing Primer
(F):5'- CAGCAGCAGCAGCAAGATG -3'
(R):5'- GCTGTGTCCCAGGTCTCC -3'

Posted On

2014-12-29