Mutagenetix > Incidental Mutation

Incidental Mutation 'R4355:Usp43'

327505

Institutional Source

Beutler Lab

Gene Symbol

Usp43

Ensembl Gene

ENSMUSG00000020905

Gene Name

ubiquitin specific peptidase 43

Synonyms

MMRRC Submission

041108-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67854523-67922153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67891464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 376 (V376A)

Ref Sequence

ENSEMBL: ENSMUSP00000104317 (fasta)

Gene Model

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

AlphaFold

Q8BUM9

Predicted Effect

probably benign
Transcript: ENSMUST00000021288
AA Change: V376A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: V376A

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

probably benign
Transcript: ENSMUST00000108677
AA Change: V376A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: V376A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	G	8: 43,570,185	Q89H	probably benign	Het
Adgrb1	T	C	15: 74,543,662	F697S	probably damaging	Het
Adgrl2	A	T	3: 148,839,152	V769E	probably damaging	Het
Aldh7a1	A	T	18: 56,548,494	F173L	probably null	Het
Arntl	A	G	7: 113,303,406	I421V	possibly damaging	Het
Bcl3	G	T	7: 19,811,580	C208*	probably null	Het
Casz1	T	C	4: 148,952,335	S1685P	unknown	Het
Cep250	A	G	2: 155,991,525	E1789G	probably damaging	Het
Cep76	A	T	18: 67,626,640	D334E	probably benign	Het
Clca3b	A	T	3: 144,825,458		probably null	Het
Col9a3	A	G	2: 180,606,478	S208G	probably benign	Het
Ddx47	T	C	6: 135,021,505	V388A	probably benign	Het
Dync1h1	C	T	12: 110,632,899	A1896V	possibly damaging	Het
Eif2ak2	T	A	17: 78,858,534	R411S	probably benign	Het
F7	A	G	8: 13,034,774	T267A	probably benign	Het
Fras1	C	A	5: 96,700,242	D1770E	probably benign	Het
G2e3	T	A	12: 51,365,337	Y387N	probably benign	Het
Hspg2	C	T	4: 137,529,418	L1491F	probably damaging	Het
Ighv3-4	T	C	12: 114,253,640	I110M	probably benign	Het
Itgb5	T	A	16: 33,844,997	C28S	probably damaging	Het
Kbtbd11	C	A	8: 15,028,578	N392K	probably damaging	Het
Kcnmb4	A	G	10: 116,473,284	S80P	possibly damaging	Het
Kif21a	C	T	15: 90,970,833	C721Y	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klrc3	T	C	6: 129,639,162	M189V	probably benign	Het
Macf1	T	A	4: 123,475,091	E394V	possibly damaging	Het
Mrgprb4	C	T	7: 48,198,701	G160R	possibly damaging	Het
Myb	A	G	10: 21,152,617	S116P	probably damaging	Het
Nf2	G	A	11: 4,780,613	Q513*	probably null	Het
Nmnat3	C	T	9: 98,410,152	T150M	possibly damaging	Het
Olfr361	C	A	2: 37,084,930	V273F	probably benign	Het
Olfr743	T	C	14: 50,533,759	C116R	possibly damaging	Het
Patj	T	G	4: 98,650,454	C210W	possibly damaging	Het
Pde3b	A	G	7: 114,416,287	H246R	probably benign	Het
Pnp2	A	G	14: 50,959,625	H56R	probably benign	Het
Prkg1	A	G	19: 30,569,229		probably benign	Het
Rhbdf1	C	T	11: 32,216,236	S8N	probably damaging	Het
Rimbp3	A	G	16: 17,209,692	K327E	possibly damaging	Het
Rnf219	A	G	14: 104,479,257	V560A	probably benign	Het
Rsph6a	T	A	7: 19,067,078		probably null	Het
Ryr2	T	C	13: 11,649,812	N3535S	probably benign	Het
Ssfa2	A	G	2: 79,641,998	N132S	probably benign	Het
Ston1	T	G	17: 88,637,008	V614G	probably damaging	Het
Svep1	T	A	4: 58,138,695	T466S	possibly damaging	Het
Tas2r109	A	T	6: 132,980,181	I262N	probably benign	Het
Tmtc1	T	C	6: 148,355,098		probably benign	Het
Tshz2	G	A	2: 169,884,938	E16K	possibly damaging	Het
Ufsp2	T	A	8: 45,985,465	S193R	possibly damaging	Het
Ugt2b5	C	A	5: 87,139,763	E182*	probably null	Het
Utp15	A	T	13: 98,259,247	F76I	possibly damaging	Het
Wdr62	A	C	7: 30,242,248	L1141R	probably damaging	Het
Zfp418	T	A	7: 7,172,162	M18K	probably benign	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
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
R5686:Usp43	UTSW	11	67921916	unclassified	probably benign
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'- TGGCAAGCACAGGTCTACAAATC -3'
(R):5'- GCAGGTTATTTCAGGTTGCC -3'

Sequencing Primer
(F):5'- GGTCTACAAATCCCACTTACCACATG -3'
(R):5'- CAGGCCCATCTTTTAAAATTATTGGC -3'

Posted On

2015-07-07