Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03093:Usp47'

418450

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 #

IGL03093

Quality Score

Status

Chromosome

Chromosomal Location

111622692-111710591 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111688827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 745 (F745L)

Ref Sequence

ENSEMBL: ENSMUSP00000151051 (fasta)

Gene Model

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

AlphaFold

Q8BY87

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106653
AA Change: F725L

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: F725L

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

possibly damaging
Transcript: ENSMUST00000210309
AA Change: F745L

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210526

Predicted Effect

probably damaging
Transcript: ENSMUST00000215510
AA Change: F745L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	A	G	19: 53,219,638 (GRCm39)	D121G	probably damaging	Het
Cacna1s	A	G	1: 136,043,802 (GRCm39)	D1380G	probably benign	Het
Clca3a1	T	C	3: 144,453,262 (GRCm39)	Y487C	probably damaging	Het
Coro2a	A	G	4: 46,544,158 (GRCm39)	S278P	possibly damaging	Het
Creb3l3	A	G	10: 80,927,047 (GRCm39)	S128P	probably benign	Het
Dab2	A	G	15: 6,465,892 (GRCm39)	R697G	probably damaging	Het
Erap1	T	C	13: 74,823,399 (GRCm39)	F811S	probably benign	Het
Fam170b	A	G	14: 32,557,482 (GRCm39)	S106G	probably damaging	Het
Galk2	T	C	2: 125,771,563 (GRCm39)	L196P	probably damaging	Het
Gan	T	C	8: 117,910,314 (GRCm39)	M81T	probably benign	Het
Gemin2	A	G	12: 59,068,511 (GRCm39)	T197A	probably benign	Het
Hemgn	A	T	4: 46,396,504 (GRCm39)	M244K	probably benign	Het
Htr6	A	G	4: 138,789,080 (GRCm39)	F325S	probably damaging	Het
Igkv9-120	A	G	6: 68,027,398 (GRCm39)	D104G	probably damaging	Het
Itpr2	A	C	6: 146,281,008 (GRCm39)	I216S	probably damaging	Het
Lingo1	T	C	9: 56,526,748 (GRCm39)	I614V	possibly damaging	Het
Mep1b	C	T	18: 21,226,710 (GRCm39)	T524M	probably benign	Het
Mtif2	A	G	11: 29,480,702 (GRCm39)		probably benign	Het
Mylk	G	A	16: 34,732,562 (GRCm39)	R614H	possibly damaging	Het
Or2ag2	T	C	7: 106,485,410 (GRCm39)	T205A	probably benign	Het
Or52s19	T	C	7: 103,007,446 (GRCm39)		probably benign	Het
Pabpc4	G	A	4: 123,180,502 (GRCm39)	D75N	probably damaging	Het
Paics	T	A	5: 77,109,355 (GRCm39)		probably null	Het
Prl	T	A	13: 27,248,870 (GRCm39)	I172N	probably benign	Het
Ripk2	A	G	4: 16,152,056 (GRCm39)	S168P	probably damaging	Het
Siglecf	T	C	7: 43,001,865 (GRCm39)	V225A	probably damaging	Het
Slc36a1	A	G	11: 55,110,430 (GRCm39)	I86V	probably benign	Het
Slc6a13	A	G	6: 121,309,407 (GRCm39)	Y306C	probably damaging	Het
Soat2	T	A	15: 102,066,078 (GRCm39)	L250Q	probably damaging	Het
Tex38	A	G	4: 115,637,762 (GRCm39)	S14P	probably damaging	Het
Tm2d1	A	T	4: 98,268,921 (GRCm39)	C59S	possibly damaging	Het
Tmco1	A	G	1: 167,143,848 (GRCm39)	D82G	probably damaging	Het
Tmem245	G	A	4: 56,886,019 (GRCm39)	R866W	probably damaging	Het
Tnip1	G	T	11: 54,831,652 (GRCm39)	Y7*	probably null	Het
Trp73	A	G	4: 154,189,330 (GRCm39)	M48T	probably benign	Het
Tslp	T	C	18: 32,948,612 (GRCm39)		probably benign	Het
Vmn2r53	T	A	7: 12,334,791 (GRCm39)	T290S	probably benign	Het
Wdr1	T	C	5: 38,718,472 (GRCm39)	D30G	probably benign	Het
Zkscan2	T	C	7: 123,094,073 (GRCm39)	Y247C	probably benign	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
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

2016-08-02