Mutagenetix > Incidental Mutation

Incidental Mutation 'R4479:Usp43'

331407

Institutional Source

Beutler Lab

Gene Symbol

Usp43

Ensembl Gene

ENSMUSG00000020905

Gene Name

ubiquitin specific peptidase 43

Synonyms

C630032K07Rik

MMRRC Submission

041736-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4479 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67745349-67812979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67747233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 820 (R820C)

Ref Sequence

ENSEMBL: ENSMUSP00000104317 (fasta)

Gene Model

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

AlphaFold

Q8BUM9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021288
AA Change: R825C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: R825C

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

possibly damaging
Transcript: ENSMUST00000108677
AA Change: R820C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: R820C

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: ENSMUST00000129961

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

95% (36/38)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,654,663 (GRCm39)	T553A	possibly damaging	Het
Adamts20	C	T	15: 94,301,326 (GRCm39)	R66H	probably damaging	Het
Anks1b	A	G	10: 89,885,754 (GRCm39)	E150G	probably damaging	Het
Chp2	A	G	7: 121,820,141 (GRCm39)	D97G	probably benign	Het
Cnbd2	T	C	2: 156,175,573 (GRCm39)		probably benign	Het
D130040H23Rik	C	A	8: 69,755,155 (GRCm39)	H187N	possibly damaging	Het
Dusp15	A	G	2: 152,786,102 (GRCm39)	L135P	probably damaging	Het
Eif4g1	G	T	16: 20,497,593 (GRCm39)		probably benign	Het
Erlin2	G	T	8: 27,515,127 (GRCm39)	V10L	probably benign	Het
F830104G03Rik	A	G	3: 56,797,634 (GRCm39)	S98P	unknown	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Gm3159	T	C	14: 4,398,584 (GRCm38)	Y92H	probably damaging	Het
Ighv1-22	G	T	12: 114,710,283 (GRCm39)	A15E	possibly damaging	Het
Ints4	T	C	7: 97,134,178 (GRCm39)	S37P	probably damaging	Het
Irs1	G	A	1: 82,265,015 (GRCm39)	T1067I	probably damaging	Het
Lrrc28	C	T	7: 67,181,362 (GRCm39)		probably null	Het
Or10v1	A	G	19: 11,873,922 (GRCm39)	Y179C	probably damaging	Het
Or4a71	A	G	2: 89,358,514 (GRCm39)	I80T	possibly damaging	Het
Or5ac24	G	A	16: 59,165,230 (GRCm39)	T278I	probably damaging	Het
Psg18	C	T	7: 18,084,787 (GRCm39)	S103N	probably benign	Het
Psma3	T	C	12: 71,031,555 (GRCm39)		probably benign	Het
Slc7a11	T	C	3: 50,372,412 (GRCm39)		probably benign	Het
Tas2r115	T	C	6: 132,714,495 (GRCm39)	D152G	probably damaging	Het
Tti1	A	T	2: 157,850,315 (GRCm39)	L308Q	possibly damaging	Het
Unc93b1	G	A	19: 3,985,236 (GRCm39)	A15T	probably benign	Het
Vmn2r68	TCC	TC	7: 84,870,758 (GRCm39)		probably null	Het
Vps8	A	T	16: 21,363,986 (GRCm39)		probably benign	Het
Wdr73	T	C	7: 80,542,969 (GRCm39)	E213G	probably benign	Het
Zfp286	C	G	11: 62,671,030 (GRCm39)	G348R	probably damaging	Het
Zkscan5	T	C	5: 145,147,984 (GRCm39)		probably benign	Het

Other mutations in Usp43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00902:Usp43	APN	11	67,782,245 (GRCm39)	missense	probably benign	0.08
IGL01536:Usp43	APN	11	67,746,764 (GRCm39)	missense	probably benign	0.01
IGL01754:Usp43	APN	11	67,747,007 (GRCm39)	missense	probably benign	0.06
IGL02057:Usp43	APN	11	67,747,113 (GRCm39)	missense	probably benign	0.02
IGL02638:Usp43	APN	11	67,746,581 (GRCm39)	missense	probably benign	0.06
IGL03105:Usp43	APN	11	67,770,802 (GRCm39)	missense	possibly damaging	0.82
IGL03155:Usp43	APN	11	67,767,315 (GRCm39)	missense	probably damaging	1.00
IGL03380:Usp43	APN	11	67,766,142 (GRCm39)	missense	possibly damaging	0.67
R0207:Usp43	UTSW	11	67,767,325 (GRCm39)	missense	probably damaging	1.00
R0308:Usp43	UTSW	11	67,770,966 (GRCm39)	missense	probably damaging	1.00
R0350:Usp43	UTSW	11	67,767,324 (GRCm39)	missense	probably damaging	1.00
R0479:Usp43	UTSW	11	67,788,100 (GRCm39)	missense	possibly damaging	0.96
R1451:Usp43	UTSW	11	67,747,007 (GRCm39)	missense	probably benign	0.01
R1686:Usp43	UTSW	11	67,778,593 (GRCm39)	missense	probably damaging	0.99
R1750:Usp43	UTSW	11	67,770,779 (GRCm39)	missense	probably damaging	1.00
R1956:Usp43	UTSW	11	67,795,159 (GRCm39)	missense	probably damaging	1.00
R2107:Usp43	UTSW	11	67,746,566 (GRCm39)	frame shift	probably null
R2108:Usp43	UTSW	11	67,746,566 (GRCm39)	frame shift	probably null
R2112:Usp43	UTSW	11	67,812,536 (GRCm39)	missense	probably damaging	1.00
R2162:Usp43	UTSW	11	67,770,795 (GRCm39)	missense	probably damaging	1.00
R2336:Usp43	UTSW	11	67,782,258 (GRCm39)	nonsense	probably null
R4031:Usp43	UTSW	11	67,804,659 (GRCm39)	missense	probably damaging	1.00
R4355:Usp43	UTSW	11	67,782,290 (GRCm39)	missense	probably benign	0.01
R4410:Usp43	UTSW	11	67,746,716 (GRCm39)	missense	probably benign	0.00
R4569:Usp43	UTSW	11	67,789,788 (GRCm39)	missense	probably damaging	1.00
R4569:Usp43	UTSW	11	67,766,178 (GRCm39)	nonsense	probably null
R4737:Usp43	UTSW	11	67,746,331 (GRCm39)	missense	probably damaging	1.00
R5395:Usp43	UTSW	11	67,788,184 (GRCm39)	critical splice acceptor site	probably null
R5466:Usp43	UTSW	11	67,804,709 (GRCm39)	missense	probably damaging	0.99
R5686:Usp43	UTSW	11	67,812,742 (GRCm39)	unclassified	probably benign
R6106:Usp43	UTSW	11	67,770,733 (GRCm39)	missense	probably benign	0.00
R7205:Usp43	UTSW	11	67,774,110 (GRCm39)	missense	probably null	1.00
R7360:Usp43	UTSW	11	67,767,155 (GRCm39)	splice site	probably null
R7426:Usp43	UTSW	11	67,783,842 (GRCm39)	missense	possibly damaging	0.60
R7755:Usp43	UTSW	11	67,782,294 (GRCm39)	missense	possibly damaging	0.94
R7937:Usp43	UTSW	11	67,746,615 (GRCm39)	missense	probably damaging	0.96
R8054:Usp43	UTSW	11	67,782,284 (GRCm39)	missense	probably damaging	0.96
R8410:Usp43	UTSW	11	67,747,146 (GRCm39)	missense	probably damaging	1.00
R8792:Usp43	UTSW	11	67,767,244 (GRCm39)	nonsense	probably null
R8865:Usp43	UTSW	11	67,789,788 (GRCm39)	missense	probably damaging	1.00
R8879:Usp43	UTSW	11	67,789,707 (GRCm39)	splice site	probably benign
R8906:Usp43	UTSW	11	67,782,307 (GRCm39)	missense	possibly damaging	0.51
R9287:Usp43	UTSW	11	67,770,922 (GRCm39)	missense	probably damaging	0.98
R9303:Usp43	UTSW	11	67,767,345 (GRCm39)	missense	probably damaging	1.00
R9305:Usp43	UTSW	11	67,767,345 (GRCm39)	missense	probably damaging	1.00
Z1088:Usp43	UTSW	11	67,746,866 (GRCm39)	missense	probably benign	0.39
Z1176:Usp43	UTSW	11	67,812,667 (GRCm39)	missense	unknown
Z1177:Usp43	UTSW	11	67,812,858 (GRCm39)	missense	unknown
Z1177:Usp43	UTSW	11	67,746,634 (GRCm39)	missense	possibly damaging	0.56
Z1186:Usp43	UTSW	11	67,747,332 (GRCm39)	missense	probably benign	0.41
Z1186:Usp43	UTSW	11	67,746,545 (GRCm39)	small insertion	probably benign
Z1187:Usp43	UTSW	11	67,747,332 (GRCm39)	missense	probably benign	0.41
Z1187:Usp43	UTSW	11	67,746,545 (GRCm39)	small insertion	probably benign
Z1188:Usp43	UTSW	11	67,747,332 (GRCm39)	missense	probably benign	0.41
Z1188:Usp43	UTSW	11	67,746,545 (GRCm39)	small insertion	probably benign
Z1189:Usp43	UTSW	11	67,747,332 (GRCm39)	missense	probably benign	0.41
Z1189:Usp43	UTSW	11	67,746,545 (GRCm39)	small insertion	probably benign
Z1190:Usp43	UTSW	11	67,747,332 (GRCm39)	missense	probably benign	0.41
Z1190:Usp43	UTSW	11	67,746,549 (GRCm39)	small insertion	probably benign
Z1190:Usp43	UTSW	11	67,746,545 (GRCm39)	small insertion	probably benign
Z1191:Usp43	UTSW	11	67,747,332 (GRCm39)	missense	probably benign	0.41
Z1191:Usp43	UTSW	11	67,746,545 (GRCm39)	small insertion	probably benign
Z1192:Usp43	UTSW	11	67,747,332 (GRCm39)	missense	probably benign	0.41
Z1192:Usp43	UTSW	11	67,746,545 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGTTGTTCCTTGCCCAATGG -3'
(R):5'- TACACCATTGCTTGAAGGCTG -3'

Sequencing Primer
(F):5'- AATGGCTCGACCGCTGTC -3'
(R):5'- CAGGGCATATATCCCTTAGCAGGTG -3'

Posted On

2015-07-21