Mutagenetix > Incidental Mutation

Incidental Mutation 'R0207:Usp43'

33413

Institutional Source

Beutler Lab

Gene Symbol

Usp43

Ensembl Gene

ENSMUSG00000020905

Gene Name

ubiquitin specific peptidase 43

Synonyms

C630032K07Rik

MMRRC Submission

038460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67745349-67812979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67767325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 682 (Y682H)

Ref Sequence

ENSEMBL: ENSMUSP00000021288 (fasta)

Gene Model

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

AlphaFold

Q8BUM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000021288
AA Change: Y682H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: Y682H

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 damaging
Transcript: ENSMUST00000108677
AA Change: Y677H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: Y677H

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

0.7656

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.5%

Validation Efficiency

95% (76/80)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,086,039 (GRCm39)	F488S	probably damaging	Het
Acap3	C	T	4: 155,983,881 (GRCm39)	R116W	probably damaging	Het
Adamts10	C	A	17: 33,764,364 (GRCm39)	P663T	possibly damaging	Het
Akap12	G	A	10: 4,303,333 (GRCm39)	G48S	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Ankzf1	C	A	1: 75,174,948 (GRCm39)	D599E	possibly damaging	Het
Aox1	T	C	1: 58,144,173 (GRCm39)	I1278T	possibly damaging	Het
Apcdd1	T	C	18: 63,083,150 (GRCm39)	Y327H	probably benign	Het
Asxl3	T	A	18: 22,544,553 (GRCm39)		probably benign	Het
Birc6	C	A	17: 74,969,827 (GRCm39)		probably benign	Het
Btaf1	T	A	19: 36,987,048 (GRCm39)	L1714*	probably null	Het
Cacng6	T	A	7: 3,473,520 (GRCm39)		probably benign	Het
Cdc20b	A	G	13: 113,215,146 (GRCm39)	D238G	probably damaging	Het
Celf5	T	A	10: 81,306,532 (GRCm39)	R113W	probably null	Het
Cfap251	T	C	5: 123,421,510 (GRCm39)	V182A	probably damaging	Het
Cfap70	C	A	14: 20,462,415 (GRCm39)	E659D	probably damaging	Het
Clspn	T	A	4: 126,484,391 (GRCm39)	M1183K	possibly damaging	Het
Dpy19l1	G	A	9: 24,365,187 (GRCm39)	R275C	probably damaging	Het
Dst	C	T	1: 34,226,016 (GRCm39)	S1721L	probably benign	Het
Faap100	T	C	11: 120,265,191 (GRCm39)	T562A	probably damaging	Het
Fam168b	T	C	1: 34,858,769 (GRCm39)	M133V	probably damaging	Het
Farp2	T	C	1: 93,496,809 (GRCm39)	I172T	probably damaging	Het
Fer	T	G	17: 64,203,273 (GRCm39)	S68A	probably damaging	Het
Fmo5	A	G	3: 97,552,997 (GRCm39)	E315G	probably damaging	Het
Gpr89	A	T	3: 96,778,796 (GRCm39)	F426I	probably damaging	Het
Hinfp	T	C	9: 44,207,624 (GRCm39)	I461V	possibly damaging	Het
Hsd11b1	A	T	1: 192,922,556 (GRCm39)	V167D	probably damaging	Het
Htt	A	G	5: 35,054,252 (GRCm39)	K2574E	probably benign	Het
I830077J02Rik	A	G	3: 105,833,821 (GRCm39)	S112P	probably benign	Het
Igf2bp3	T	A	6: 49,082,551 (GRCm39)	M344L	probably benign	Het
Itch	A	T	2: 155,044,177 (GRCm39)	Q494L	probably benign	Het
Itga9	T	C	9: 118,598,321 (GRCm39)		probably benign	Het
Jaml	T	A	9: 45,005,065 (GRCm39)	D152E	probably benign	Het
Kif22	A	C	7: 126,641,572 (GRCm39)	M1R	probably null	Het
Kifap3	T	C	1: 163,710,955 (GRCm39)	Y663H	probably benign	Het
Letm2	T	A	8: 26,068,786 (GRCm39)	N472I	probably damaging	Het
Mthfr	T	G	4: 148,136,681 (GRCm39)	V446G	probably damaging	Het
Myh11	T	C	16: 14,029,124 (GRCm39)	E1206G	possibly damaging	Het
Myo6	G	A	9: 80,195,338 (GRCm39)	V903I	probably damaging	Het
Myo9b	C	T	8: 71,807,869 (GRCm39)		probably benign	Het
Nr2f2	G	C	7: 70,009,923 (GRCm39)	P52R	probably damaging	Het
Nsd3	A	G	8: 26,173,273 (GRCm39)	N859S	probably benign	Het
Nucb2	C	A	7: 116,135,245 (GRCm39)	A384E	probably damaging	Het
Ogdhl	C	A	14: 32,063,994 (GRCm39)		probably null	Het
Or10al3	C	A	17: 38,011,949 (GRCm39)	C129*	probably null	Het
Or1e22	A	T	11: 73,377,401 (GRCm39)	L83Q	probably benign	Het
Or1i2	T	C	10: 78,447,705 (GRCm39)	T257A	probably benign	Het
Or4a74	G	A	2: 89,440,207 (GRCm39)	L80F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Parp10	C	T	15: 76,126,833 (GRCm39)	S145N	probably benign	Het
Pigh	A	G	12: 79,130,483 (GRCm39)		probably benign	Het
Pigo	A	G	4: 43,023,824 (GRCm39)		probably benign	Het
Pkp4	T	A	2: 59,135,832 (GRCm39)	V199D	possibly damaging	Het
Polr1e	C	A	4: 45,025,143 (GRCm39)		probably null	Het
Ppfia3	C	A	7: 44,997,958 (GRCm39)	R723L	probably damaging	Het
Prex1	C	A	2: 166,427,818 (GRCm39)	A945S	possibly damaging	Het
Prrt3	A	T	6: 113,472,801 (GRCm39)	V457E	probably damaging	Het
Rab39	A	G	9: 53,617,271 (GRCm39)	F49L	possibly damaging	Het
Rrs1	C	A	1: 9,615,987 (GRCm39)		probably null	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Serpinb3c	T	C	1: 107,204,722 (GRCm39)	D8G	probably benign	Het
Slc17a6	A	G	7: 51,295,928 (GRCm39)		probably benign	Het
Slc24a4	T	A	12: 102,195,210 (GRCm39)		probably null	Het
Smc1b	C	T	15: 85,007,960 (GRCm39)	M272I	probably benign	Het
Smc6	T	C	12: 11,333,179 (GRCm39)		probably benign	Het
Tcf20	T	C	15: 82,739,286 (GRCm39)	T722A	probably benign	Het
Tesmin	A	T	19: 3,454,088 (GRCm39)	M141L	probably benign	Het
Tmprss5	T	A	9: 49,024,460 (GRCm39)	H274Q	possibly damaging	Het
Tns1	C	T	1: 73,976,477 (GRCm39)		probably null	Het
Tpr	T	C	1: 150,293,178 (GRCm39)	S868P	possibly damaging	Het
Trank1	C	T	9: 111,195,321 (GRCm39)	T1115I	probably damaging	Het
Trmt44	A	T	5: 35,730,261 (GRCm39)	I203K	possibly damaging	Het
Ulk2	A	T	11: 61,668,611 (GRCm39)	V1037E	probably benign	Het
Vipr2	A	T	12: 116,106,502 (GRCm39)	Q366L	probably damaging	Het
Vmn1r185	C	A	7: 26,311,014 (GRCm39)	V164L	possibly damaging	Het
Vmn2r120	C	T	17: 57,832,052 (GRCm39)	V246I	probably benign	Het
Wiz	C	T	17: 32,576,007 (GRCm39)	G790R	probably damaging	Het
Wnk1	A	T	6: 119,929,694 (GRCm39)	S1016R	probably damaging	Het
Zc3hav1	A	G	6: 38,288,109 (GRCm39)	L909S	probably benign	Het
Zfp236	T	A	18: 82,658,352 (GRCm39)	I637F	probably damaging	Het
Zfp788	G	A	7: 41,299,020 (GRCm39)	G532D	probably damaging	Het
Zranb1	T	C	7: 132,552,114 (GRCm39)	I255T	probably damaging	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
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
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'- CTGCCTTCTATAAATGGACGGCAGG -3'
(R):5'- GCACTCACCTTCCAGTGAGCAATC -3'

Sequencing Primer
(F):5'- gtgcggaggtcaaagaaaac -3'
(R):5'- TTCCAGTGAGCAATCCTGGC -3'

Posted On

2013-05-09