Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Usp47'

669071

Institutional Source

Beutler Lab

Gene Symbol

Usp47

Ensembl Gene

ENSMUSG00000059263

Gene Name

ubiquitin specific peptidase 47

Synonyms

A630020C16Rik, 4930502N04Rik

MMRRC Submission

Accession Numbers

Genbank: NM_133758; MGI: 1922246

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112023504-112111661 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112093195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 955 (T955A)

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: T935A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: T935A

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: T955A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215510
AA Change: T955A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,684,966	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283	M155T	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Hunk	T	A	16: 90,386,610	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mccc1	A	T	3: 35,995,784	D86E	probably benign	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,107,191	F90S	possibly damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Ncaph	T	C	2: 127,106,138	K676E	probably benign	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pcdh20	A	T	14: 88,468,413	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Plcg2	T	A	8: 117,581,677	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tdrd1	T	C	19: 56,851,484	S659P	possibly damaging	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,278,936	E111G	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp112	A	G	7: 24,125,740	R382G	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	unknown	Het

Other mutations in Usp47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Usp47	APN	7	112074783	missense	probably benign	0.00
IGL00574:Usp47	APN	7	112063335	missense	probably damaging	1.00
IGL00975:Usp47	APN	7	112093370	missense	probably damaging	1.00
IGL01289:Usp47	APN	7	112063358	missense	probably damaging	1.00
IGL01419:Usp47	APN	7	112087911	missense	possibly damaging	0.94
IGL01645:Usp47	APN	7	112054862	missense	probably damaging	0.96
IGL01871:Usp47	APN	7	112077786	splice site	probably benign
IGL02066:Usp47	APN	7	112064397	missense	probably damaging	1.00
IGL02122:Usp47	APN	7	112106908	missense	probably damaging	0.97
IGL02153:Usp47	APN	7	112104049	missense	probably benign	0.00
IGL02550:Usp47	APN	7	112104354	missense	probably damaging	1.00
IGL02710:Usp47	APN	7	112092925	missense	probably benign	0.01
IGL02756:Usp47	APN	7	112093063	missense	possibly damaging	0.76
IGL03093:Usp47	APN	7	112089620	missense	probably damaging	1.00
IGL03398:Usp47	APN	7	112074503	missense	probably damaging	1.00
0152:Usp47	UTSW	7	112056577	missense	probably damaging	0.96
PIT4142001:Usp47	UTSW	7	112104341	splice site	probably benign
R0110:Usp47	UTSW	7	112056580	missense	possibly damaging	0.88
R0381:Usp47	UTSW	7	112063393	critical splice donor site	probably null
R0450:Usp47	UTSW	7	112056580	missense	possibly damaging	0.88
R0634:Usp47	UTSW	7	112108655	missense	probably damaging	1.00
R0881:Usp47	UTSW	7	112091436	missense	possibly damaging	0.51
R1178:Usp47	UTSW	7	112109998	missense	possibly damaging	0.68
R1447:Usp47	UTSW	7	112074568	critical splice donor site	probably null
R1640:Usp47	UTSW	7	112083127	missense	probably damaging	0.99
R1727:Usp47	UTSW	7	112086100	missense	probably damaging	0.96
R1866:Usp47	UTSW	7	112101870	missense	possibly damaging	0.93
R1876:Usp47	UTSW	7	112054920	missense	probably damaging	0.99
R1953:Usp47	UTSW	7	112092876	missense	probably benign	0.26
R2117:Usp47	UTSW	7	112067236	critical splice donor site	probably null
R2176:Usp47	UTSW	7	112092727	missense	probably benign	0.00
R2187:Usp47	UTSW	7	112067191	missense	probably damaging	1.00
R2504:Usp47	UTSW	7	112104470	critical splice donor site	probably null
R2902:Usp47	UTSW	7	112093451	missense	probably damaging	1.00
R2922:Usp47	UTSW	7	112093198	missense	probably damaging	1.00
R2939:Usp47	UTSW	7	112082536	missense	probably damaging	1.00
R4065:Usp47	UTSW	7	112053416	missense	probably benign	0.30
R4179:Usp47	UTSW	7	112087884	missense	probably damaging	1.00
R4235:Usp47	UTSW	7	112110048	missense	probably damaging	0.99
R4243:Usp47	UTSW	7	112108629	missense	probably damaging	1.00
R4281:Usp47	UTSW	7	112109993	missense	probably benign	0.03
R4360:Usp47	UTSW	7	112054932	missense	probably damaging	1.00
R4604:Usp47	UTSW	7	112101831	missense	probably damaging	1.00
R4857:Usp47	UTSW	7	112082552	missense	probably damaging	1.00
R5133:Usp47	UTSW	7	112083882	missense	probably damaging	1.00
R5179:Usp47	UTSW	7	112093432	missense	probably damaging	1.00
R5322:Usp47	UTSW	7	112053269	missense	probably damaging	0.99
R5445:Usp47	UTSW	7	112074721	missense	probably damaging	1.00
R5465:Usp47	UTSW	7	112059002	missense	probably damaging	1.00
R5699:Usp47	UTSW	7	112109997	missense	probably benign	0.00
R5961:Usp47	UTSW	7	112053316	missense	probably damaging	1.00
R6117:Usp47	UTSW	7	112087932	missense	probably damaging	0.98
R6271:Usp47	UTSW	7	112087056	missense	probably damaging	1.00
R7155:Usp47	UTSW	7	112087013	missense	probably damaging	0.97
R7229:Usp47	UTSW	7	112092877	missense	probably benign	0.04
R7246:Usp47	UTSW	7	112115909
R7285:Usp47	UTSW	7	112093108	missense	probably benign	0.02
R7938:Usp47	UTSW	7	112087925	missense	probably damaging	0.99
R8079:Usp47	UTSW	7	112046970	missense	probably damaging	1.00
R8114:Usp47	UTSW	7	112093187	missense	probably damaging	1.00
R8141:Usp47	UTSW	7	112053265	missense	possibly damaging	0.60
R8172:Usp47	UTSW	7	112087926	nonsense	probably null
R8223:Usp47	UTSW	7	112104376	missense	probably damaging	1.00
R8510:Usp47	UTSW	7	112059001	missense	probably damaging	1.00
R9106:Usp47	UTSW	7	112082506	missense	probably damaging	1.00
R9135:Usp47	UTSW	7	112053224	missense	probably benign	0.30
R9311:Usp47	UTSW	7	112104050	missense	probably benign	0.02
R9417:Usp47	UTSW	7	112089594	missense	possibly damaging	0.86
R9487:Usp47	UTSW	7	112077856	missense	probably damaging	0.99
R9628:Usp47	UTSW	7	112106792	missense	probably benign	0.01
RF010:Usp47	UTSW	7	112092938	missense	probably damaging	0.99
X0027:Usp47	UTSW	7	112087847	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCTTGTCACTGCAGCAGC -3'
(R):5'- CAGAGTCTTCTTCAGCTGTGTC -3'

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

Posted On

2021-04-30