Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02710:Usp47'

304542

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: 0.839) question?

Stock #

IGL02710

Quality Score

Status

Chromosome

Chromosomal Location

111622692-111710591 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 111692132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 845 (N845D)

Ref Sequence

ENSEMBL: ENSMUSP00000102264 (fasta)

Gene Model

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

AlphaFold

Q8BY87

Predicted Effect

probably benign
Transcript: ENSMUST00000106653
AA Change: N845D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: N845D

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
AA Change: N865D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210526

Predicted Effect

probably benign
Transcript: ENSMUST00000215510
AA Change: N865D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	G	1: 58,373,928 (GRCm39)		probably null	Het
Col18a1	G	A	10: 76,949,146 (GRCm39)	A122V	possibly damaging	Het
Dnai3	A	T	3: 145,753,903 (GRCm39)	I719N	possibly damaging	Het
Dtnb	T	A	12: 3,698,380 (GRCm39)	H289Q	possibly damaging	Het
Fat4	A	T	3: 38,944,744 (GRCm39)	K1212N	probably damaging	Het
Gm10392	T	C	11: 77,409,294 (GRCm39)	H44R	possibly damaging	Het
Herc2	G	A	7: 55,787,562 (GRCm39)	A1740T	possibly damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Knl1	A	C	2: 118,901,411 (GRCm39)	E1037D	probably damaging	Het
Lsg1	A	T	16: 30,390,292 (GRCm39)	D274E	probably benign	Het
Msantd3	A	G	4: 48,552,686 (GRCm39)	K92E	probably damaging	Het
Nap1l4	G	A	7: 143,077,998 (GRCm39)	T312I	probably benign	Het
Nlrp3	A	G	11: 59,456,802 (GRCm39)	E988G	probably damaging	Het
Or11g2	C	T	14: 50,856,255 (GRCm39)	T192I	probably benign	Het
Palm3	C	T	8: 84,754,941 (GRCm39)	T151I	possibly damaging	Het
Pde1b	T	C	15: 103,430,484 (GRCm39)	W144R	probably damaging	Het
Piezo2	A	G	18: 63,207,730 (GRCm39)	L1427P	probably damaging	Het
Rasal1	A	T	5: 120,804,496 (GRCm39)	H456L	possibly damaging	Het
Sec16a	C	T	2: 26,320,142 (GRCm39)	G1432D	possibly damaging	Het
Shc1	A	G	3: 89,331,917 (GRCm39)		probably null	Het
Skint5	T	A	4: 113,335,156 (GRCm39)	I1452F	unknown	Het
Slc35b4	C	A	6: 34,135,476 (GRCm39)	V279L	probably benign	Het
Snx9	T	C	17: 5,958,873 (GRCm39)	V283A	probably damaging	Het
Stra6l	T	C	4: 45,882,728 (GRCm39)	F480L	possibly damaging	Het
Stt3a	A	G	9: 36,670,041 (GRCm39)	Y132H	probably damaging	Het
Sv2c	T	A	13: 96,125,649 (GRCm39)	I363F	probably damaging	Het
Tnfrsf21	C	T	17: 43,398,820 (GRCm39)	T642I	probably damaging	Het
Tubgcp2	G	A	7: 139,584,897 (GRCm39)		probably benign	Het
Wdr20	A	T	12: 110,759,544 (GRCm39)		probably benign	Het
Zfp518b	A	G	5: 38,830,061 (GRCm39)	V648A	probably damaging	Het
Zfp687	A	T	3: 94,916,084 (GRCm39)	S927T	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
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

2015-04-16