Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01871:Usp47'

178730

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp47

Ensembl Gene

ENSMUSG00000059263

Gene Name

ubiquitin specific peptidase 47

Synonyms

A630020C16Rik, 4930502N04Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.870) question?

Stock #

IGL01871

Quality Score

Status

Chromosome

Chromosomal Location

111622692-111710591 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 111676993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151051 (fasta)

Gene Model

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

AlphaFold

Q8BY87

Predicted Effect

probably benign
Transcript: ENSMUST00000106653

SMART Domains

Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263

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 benign
Transcript: ENSMUST00000210309

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211791

Predicted Effect

probably benign
Transcript: ENSMUST00000215510

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,620,513 (GRCm39)		probably null	Het
Aqp7	G	A	4: 41,045,321 (GRCm39)	R20*	probably null	Het
Asxl2	G	T	12: 3,552,112 (GRCm39)	V1285L	probably benign	Het
Bdp1	A	T	13: 100,202,561 (GRCm39)	S688T	probably benign	Het
Cc2d2a	A	T	5: 43,846,311 (GRCm39)	I357F	probably damaging	Het
Clasp1	A	T	1: 118,498,619 (GRCm39)	I884F	probably damaging	Het
Cpne4	T	G	9: 104,802,956 (GRCm39)	M200R	possibly damaging	Het
Cyp2d10	T	A	15: 82,288,086 (GRCm39)	D180V	probably damaging	Het
Dicer1	A	T	12: 104,670,439 (GRCm39)	V1042D	probably damaging	Het
Dlc1	G	A	8: 37,317,334 (GRCm39)	T447I	probably damaging	Het
Efl1	T	C	7: 82,412,527 (GRCm39)	M972T	possibly damaging	Het
Erbin	A	G	13: 103,971,274 (GRCm39)	S781P	probably damaging	Het
Galnt4	G	A	10: 98,945,103 (GRCm39)	G276D	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gmppa	A	G	1: 75,413,661 (GRCm39)	I41V	probably damaging	Het
Golga1	C	T	2: 38,940,210 (GRCm39)		probably benign	Het
H2-Ob	G	T	17: 34,461,519 (GRCm39)	W86L	probably damaging	Het
Hnrnpr	G	A	4: 136,066,885 (GRCm39)	R482H	unknown	Het
L2hgdh	T	C	12: 69,768,869 (GRCm39)	E81G	probably damaging	Het
Mre11a	T	C	9: 14,723,193 (GRCm39)	V389A	possibly damaging	Het
Mxra8	A	G	4: 155,927,258 (GRCm39)	T372A	probably benign	Het
Ncapg	T	A	5: 45,845,923 (GRCm39)	S593R	probably benign	Het
Ndufaf1	C	T	2: 119,488,768 (GRCm39)	W250*	probably null	Het
Neb	T	C	2: 52,043,081 (GRCm39)	E6783G	probably damaging	Het
Nmt2	T	C	2: 3,313,711 (GRCm39)	Y175H	probably damaging	Het
Olfml2b	T	C	1: 170,489,924 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,946,964 (GRCm39)	M812L	probably damaging	Het
Pou2f3	A	G	9: 43,045,768 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,600,951 (GRCm39)	T2871A	probably benign	Het
Rapgef4	A	G	2: 72,028,704 (GRCm39)	T392A	possibly damaging	Het
Rhov	G	T	2: 119,101,219 (GRCm39)	Q71K	probably benign	Het
Slc22a15	T	C	3: 101,768,110 (GRCm39)		probably benign	Het
Spaca1	T	A	4: 34,040,894 (GRCm39)	N22Y	probably damaging	Het
Stmnd1	A	G	13: 46,443,189 (GRCm39)	E107G	probably damaging	Het
Tent5b	A	G	4: 133,213,620 (GRCm39)	I164V	possibly damaging	Het
Timm22	T	C	11: 76,298,263 (GRCm39)	V78A	probably damaging	Het
Utp4	A	C	8: 107,638,949 (GRCm39)	K419T	probably benign	Het
Zfp410	T	C	12: 84,372,565 (GRCm39)		probably null	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
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
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

Posted On

2014-05-07