Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Usp43'

443374

Institutional Source

Beutler Lab

Gene Symbol

Usp43

Ensembl Gene

ENSMUSG00000020905

Gene Name

ubiquitin specific peptidase 43

Synonyms

MMRRC Submission

043319-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5686 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

67854523-67922153 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 67921916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021287] [ENSMUST00000021288] [ENSMUST00000108677]

AlphaFold

Q8BUM9

Predicted Effect

probably benign
Transcript: ENSMUST00000021287

SMART Domains

Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904

Domain	Start	End	E-Value	Type
WD40	53	97	3.71e-1	SMART
WD40	100	141	3.45e-3	SMART
WD40	149	186	1.03e1	SMART
low complexity region	262	273	N/A	INTRINSIC
WD40	280	318	9.86e1	SMART
WD40	321	360	6.6e1	SMART
WD40	363	402	8.56e0	SMART
WD40	405	445	2.27e-3	SMART
WD40	450	489	3.14e-6	SMART
WD40	492	530	9.21e0	SMART
WD40	533	573	6.19e-5	SMART
WD40	576	615	2.15e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000021288
AA Change: P45S

SMART Domains

Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: P45S

Domain	Start	End	E-Value	Type
low complexity region	8	54	N/A	INTRINSIC
low complexity region	59	87	N/A	INTRINSIC
Pfam:UCH	100	707	2.8e-61	PFAM
Pfam:UCH_1	101	297	1.3e-6	PFAM
Pfam:UCH_1	503	689	5.2e-13	PFAM
low complexity region	717	731	N/A	INTRINSIC
low complexity region	958	972	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000068548

Predicted Effect

unknown
Transcript: ENSMUST00000108677
AA Change: P45S

SMART Domains

Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: P45S

Domain	Start	End	E-Value	Type
low complexity region	8	54	N/A	INTRINSIC
low complexity region	59	87	N/A	INTRINSIC
Pfam:UCH	100	702	3.5e-54	PFAM
Pfam:UCH_1	101	298	2.7e-7	PFAM
Pfam:UCH_1	503	684	1.2e-9	PFAM
low complexity region	712	726	N/A	INTRINSIC
low complexity region	953	967	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152120

Meta Mutation Damage Score

0.0758

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,303,314	E839G	possibly damaging	Het
2410141K09Rik	T	C	13: 66,431,663	R254G	probably benign	Het
4932438A13Rik	T	A	3: 36,917,660	F514Y	probably benign	Het
Adgrf3	T	A	5: 30,197,306	T575S	probably damaging	Het
Akap9	T	A	5: 3,971,926	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,726,633	F926L	probably damaging	Het
BC035947	G	T	1: 78,497,930	T655K	probably benign	Het
Bcas1	T	C	2: 170,406,810	T64A	probably benign	Het
Brca2	A	G	5: 150,540,904	K1378E	probably benign	Het
Card6	A	T	15: 5,100,953	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,138,060	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,790,164	S212P	probably damaging	Het
Cdh8	T	C	8: 99,033,222	I632V	probably benign	Het
Col25a1	A	G	3: 130,564,154	E477G	probably damaging	Het
Cpne5	A	T	17: 29,184,017	C215S	possibly damaging	Het
Crim1	T	A	17: 78,374,083	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,616,404	N340K	probably benign	Het
Eif4e2	G	A	1: 87,226,238		probably null	Het
Ephb6	G	T	6: 41,619,704	R895L	possibly damaging	Het
Esrrg	T	A	1: 188,150,198	H217Q	probably benign	Het
Fgl1	T	A	8: 41,200,557	K100*	probably null	Het
Flt4	T	C	11: 49,630,603	V450A	probably benign	Het
G6pc2	A	T	2: 69,220,784	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684	M336T	probably damaging	Het
Gli1	T	A	10: 127,337,436	T118S	probably benign	Het
Gm5435	A	T	12: 82,496,026		noncoding transcript	Het
Got1l1	A	G	8: 27,198,059	L314P	probably damaging	Het
Hk3	T	A	13: 55,006,813	I740F	probably damaging	Het
Htr7	C	A	19: 35,969,871	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,324,179	T508A	probably damaging	Het
Il16	T	A	7: 83,648,728	N431I	probably benign	Het
Lax1	G	A	1: 133,680,176	P276S	probably damaging	Het
Lrp2	A	T	2: 69,511,061	V925E	possibly damaging	Het
Lrp3	T	A	7: 35,203,485	T479S	possibly damaging	Het
Metrn	G	A	17: 25,795,217	R212C	probably damaging	Het
Mlip	A	C	9: 77,347,693		probably null	Het
Mmp24	C	T	2: 155,799,777	T175I	probably damaging	Het
N6amt1	A	T	16: 87,354,335	D28V	probably damaging	Het
Olfr1289	G	A	2: 111,484,143	G238R	probably damaging	Het
Olfr215	T	C	6: 116,582,929	T6A	probably benign	Het
Olfr380	A	T	11: 73,453,851	Y120*	probably null	Het
Olfr472	A	G	7: 107,902,912	H65R	probably damaging	Het
Olfr490	G	T	7: 108,286,742	A128E	probably damaging	Het
Olfr870	T	A	9: 20,170,969	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,532,993	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,151,428	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,425,237	L323P	probably damaging	Het
Psg21	G	T	7: 18,652,258		probably benign	Het
Rest	T	C	5: 77,281,726	V664A	probably benign	Het
Sco2	G	A	15: 89,371,972	R160*	probably null	Het
Sfswap	T	A	5: 129,514,818	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,678,566	M329K	probably benign	Het
Slco1a5	G	A	6: 142,236,307	P564S	probably damaging	Het
Stk38	A	G	17: 28,982,129	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 84,079,602	T441M	possibly damaging	Het
Tg	T	A	15: 66,688,889	N1033K	probably benign	Het
Thoc3	A	T	13: 54,467,873	I126N	probably damaging	Het
Tnc	T	C	4: 64,007,730		probably null	Het
Tnc	A	T	4: 64,008,795	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,211,218	V100E	probably damaging	Het
Vmn2r90	A	T	17: 17,713,450	Y424F	probably benign	Het
Vps33a	C	T	5: 123,547,001		probably null	Het
Xirp2	A	T	2: 67,482,298	K37I	probably damaging	Het
Zfp106	A	T	2: 120,533,507		probably null	Het
Zfp748	A	T	13: 67,542,528	C204*	probably null	Het

Other mutations in Usp43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Usp43	APN	11	67891419	missense	probably benign	0.08
IGL01536:Usp43	APN	11	67855938	missense	probably benign	0.01
IGL01754:Usp43	APN	11	67856181	missense	probably benign	0.06
IGL02057:Usp43	APN	11	67856287	missense	probably benign	0.02
IGL02638:Usp43	APN	11	67855755	missense	probably benign	0.06
IGL03105:Usp43	APN	11	67879976	missense	possibly damaging	0.82
IGL03155:Usp43	APN	11	67876489	missense	probably damaging	1.00
IGL03380:Usp43	APN	11	67875316	missense	possibly damaging	0.67
R0207:Usp43	UTSW	11	67876499	missense	probably damaging	1.00
R0308:Usp43	UTSW	11	67880140	missense	probably damaging	1.00
R0350:Usp43	UTSW	11	67876498	missense	probably damaging	1.00
R0479:Usp43	UTSW	11	67897274	missense	possibly damaging	0.96
R1451:Usp43	UTSW	11	67856181	missense	probably benign	0.01
R1686:Usp43	UTSW	11	67887767	missense	probably damaging	0.99
R1750:Usp43	UTSW	11	67879953	missense	probably damaging	1.00
R1956:Usp43	UTSW	11	67904333	missense	probably damaging	1.00
R2107:Usp43	UTSW	11	67855740	frame shift	probably null
R2108:Usp43	UTSW	11	67855740	frame shift	probably null
R2112:Usp43	UTSW	11	67921710	missense	probably damaging	1.00
R2162:Usp43	UTSW	11	67879969	missense	probably damaging	1.00
R2336:Usp43	UTSW	11	67891432	nonsense	probably null
R4031:Usp43	UTSW	11	67913833	missense	probably damaging	1.00
R4355:Usp43	UTSW	11	67891464	missense	probably benign	0.01
R4410:Usp43	UTSW	11	67855890	missense	probably benign	0.00
R4479:Usp43	UTSW	11	67856407	missense	possibly damaging	0.96
R4569:Usp43	UTSW	11	67875352	nonsense	probably null
R4569:Usp43	UTSW	11	67898962	missense	probably damaging	1.00
R4737:Usp43	UTSW	11	67855505	missense	probably damaging	1.00
R5395:Usp43	UTSW	11	67897358	critical splice acceptor site	probably null
R5466:Usp43	UTSW	11	67913883	missense	probably damaging	0.99
R6106:Usp43	UTSW	11	67879907	missense	probably benign	0.00
R7205:Usp43	UTSW	11	67883284	missense	probably null	1.00
R7360:Usp43	UTSW	11	67876329	splice site	probably null
R7426:Usp43	UTSW	11	67893016	missense	possibly damaging	0.60
R7755:Usp43	UTSW	11	67891468	missense	possibly damaging	0.94
R7937:Usp43	UTSW	11	67855789	missense	probably damaging	0.96
R8054:Usp43	UTSW	11	67891458	missense	probably damaging	0.96
R8410:Usp43	UTSW	11	67856320	missense	probably damaging	1.00
R8792:Usp43	UTSW	11	67876418	nonsense	probably null
R8865:Usp43	UTSW	11	67898962	missense	probably damaging	1.00
R8879:Usp43	UTSW	11	67898881	splice site	probably benign
R8906:Usp43	UTSW	11	67891481	missense	possibly damaging	0.51
R9287:Usp43	UTSW	11	67880096	missense	probably damaging	0.98
R9303:Usp43	UTSW	11	67876519	missense	probably damaging	1.00
R9305:Usp43	UTSW	11	67876519	missense	probably damaging	1.00
Z1088:Usp43	UTSW	11	67856040	missense	probably benign	0.39
Z1176:Usp43	UTSW	11	67921841	missense	unknown
Z1177:Usp43	UTSW	11	67855808	missense	possibly damaging	0.56
Z1177:Usp43	UTSW	11	67922032	missense	unknown
Z1186:Usp43	UTSW	11	67855719	small insertion	probably benign
Z1186:Usp43	UTSW	11	67856506	missense	probably benign	0.41
Z1187:Usp43	UTSW	11	67855719	small insertion	probably benign
Z1187:Usp43	UTSW	11	67856506	missense	probably benign	0.41
Z1188:Usp43	UTSW	11	67855719	small insertion	probably benign
Z1188:Usp43	UTSW	11	67856506	missense	probably benign	0.41
Z1189:Usp43	UTSW	11	67855719	small insertion	probably benign
Z1189:Usp43	UTSW	11	67856506	missense	probably benign	0.41
Z1190:Usp43	UTSW	11	67855719	small insertion	probably benign
Z1190:Usp43	UTSW	11	67855723	small insertion	probably benign
Z1190:Usp43	UTSW	11	67856506	missense	probably benign	0.41
Z1191:Usp43	UTSW	11	67855719	small insertion	probably benign
Z1191:Usp43	UTSW	11	67856506	missense	probably benign	0.41
Z1192:Usp43	UTSW	11	67855719	small insertion	probably benign
Z1192:Usp43	UTSW	11	67856506	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TGGTTCTTCAAGCCCTGAGC -3'
(R):5'- GAGGTGAAAGGCCTGTTCCAAG -3'

Sequencing Primer
(F):5'- ACCCGAAGATATCTGGGG -3'
(R):5'- AGTGCATTCCCAGCTCCAG -3'

Posted On

2016-11-09