Mutagenetix > Incidental Mutation

Incidental Mutation 'R2336:Usp43'

246556

Institutional Source

Beutler Lab

Gene Symbol

Usp43

Ensembl Gene

ENSMUSG00000020905

Gene Name

ubiquitin specific peptidase 43

Synonyms

C630032K07Rik

MMRRC Submission

040323-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2336 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67745349-67812979 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 67782258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 387 (R387*)

Ref Sequence

ENSEMBL: ENSMUSP00000104317 (fasta)

Gene Model

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

AlphaFold

Q8BUM9

Predicted Effect

probably null
Transcript: ENSMUST00000021288
AA Change: R387*

SMART Domains

Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: R387*

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 null
Transcript: ENSMUST00000108677
AA Change: R387*

SMART Domains

Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: R387*

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

0.9711

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	T	A	1: 181,055,206 (GRCm39)		noncoding transcript	Het
Arhgap21	G	A	2: 20,884,862 (GRCm39)	R772C	probably damaging	Het
Arid2	A	G	15: 96,260,430 (GRCm39)	E393G	probably damaging	Het
Atrn	C	T	2: 130,799,874 (GRCm39)	T417I	probably damaging	Het
Baiap3	T	C	17: 25,469,378 (GRCm39)	K173R	probably damaging	Het
Bdp1	A	T	13: 100,189,510 (GRCm39)	N1497K	probably damaging	Het
Ceacam5	T	C	7: 17,481,300 (GRCm39)	V349A	probably benign	Het
Chrnd	T	C	1: 87,122,615 (GRCm39)	F132S	probably damaging	Het
Ddx42	A	G	11: 106,121,976 (GRCm39)	M164V	possibly damaging	Het
Dtwd2	A	G	18: 49,833,320 (GRCm39)		probably benign	Het
Eprs1	T	A	1: 185,143,571 (GRCm39)		probably benign	Het
Fut8	A	G	12: 77,459,730 (GRCm39)		probably benign	Het
Gabrr3	C	T	16: 59,250,313 (GRCm39)	T104M	probably damaging	Het
Gcat	G	A	15: 78,915,180 (GRCm39)	R16H	probably benign	Het
Gnb2	A	T	5: 137,527,460 (GRCm39)	W125R	probably damaging	Het
Grik4	C	T	9: 42,477,651 (GRCm39)	D512N	probably damaging	Het
Hnf4g	T	C	3: 3,706,284 (GRCm39)	F60L	probably benign	Het
Lrp6	A	G	6: 134,484,546 (GRCm39)	I359T	probably damaging	Het
Lrrfip2	A	G	9: 111,051,283 (GRCm39)	D325G	probably damaging	Het
Mttp	A	T	3: 137,821,856 (GRCm39)	I222K	possibly damaging	Het
Myom1	A	T	17: 71,330,189 (GRCm39)	H107L	possibly damaging	Het
Obi1	G	A	14: 104,716,318 (GRCm39)	P685L	probably damaging	Het
Or10al4	A	T	17: 38,037,689 (GRCm39)	Y258F	probably benign	Het
Or2r11	A	G	6: 42,437,663 (GRCm39)	C97R	probably damaging	Het
Ppfia3	T	C	7: 45,006,121 (GRCm39)		probably null	Het
Prokr2	A	T	2: 132,223,359 (GRCm39)	M61K	probably damaging	Het
Ptk2	A	G	15: 73,137,965 (GRCm39)	C502R	probably damaging	Het
Rbm25	T	A	12: 83,698,192 (GRCm39)	W172R	probably damaging	Het
Rdh16f1	A	G	10: 127,624,624 (GRCm39)	K154R	probably benign	Het
Rnf213	G	A	11: 119,305,430 (GRCm39)	E554K	probably benign	Het
St3gal6	A	T	16: 58,314,067 (GRCm39)	I22K	probably damaging	Het
Tut7	G	T	13: 59,946,868 (GRCm39)	P585Q	probably damaging	Het
Vmn2r106	T	C	17: 20,488,470 (GRCm39)	N643S	probably benign	Het
Zdbf2	G	T	1: 63,342,623 (GRCm39)	R334L	probably benign	Het
Zfp868	G	T	8: 70,066,558 (GRCm39)		probably null	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
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
R4479:Usp43	UTSW	11	67,747,233 (GRCm39)	missense	possibly damaging	0.96
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'- ACAGCTAATCCTCTTGCTCAG -3'
(R):5'- TCTTCTAATCAAACTCAGGCCC -3'

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

Posted On

2014-10-30