Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01754:Usp43'

153430

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp43

Ensembl Gene

ENSMUSG00000020905

Gene Name

ubiquitin specific peptidase 43

Synonyms

C630032K07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01754

Quality Score

Status

Chromosome

Chromosomal Location

67745349-67812979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67747007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 895 (H895R)

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: H900R

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: H900R

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: H895R

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: H895R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,708,942 (GRCm39)	C294R	probably damaging	Het
Afap1l1	A	G	18: 61,870,565 (GRCm39)		probably null	Het
Art2a	C	T	7: 101,204,059 (GRCm39)	V160M	probably damaging	Het
Atp8b3	T	C	10: 80,366,795 (GRCm39)		probably null	Het
Cwc22	A	G	2: 77,754,883 (GRCm39)	I231T	probably damaging	Het
Efr3a	C	A	15: 65,726,569 (GRCm39)	A554E	probably damaging	Het
Fads2b	T	C	2: 85,348,899 (GRCm39)	Q71R	probably damaging	Het
Fam3b	T	C	16: 97,277,607 (GRCm39)	T76A	probably benign	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gm4454	T	C	7: 38,268,386 (GRCm39)	T253A	probably damaging	Het
Gpsm2	C	T	3: 108,610,361 (GRCm39)	R33H	probably damaging	Het
Igkv5-39	A	G	6: 69,877,661 (GRCm39)	S12P	probably damaging	Het
Itga10	G	A	3: 96,564,091 (GRCm39)		probably benign	Het
Kng1	A	T	16: 22,898,364 (GRCm39)	D407V	probably benign	Het
Lrrd1	A	G	5: 3,901,432 (GRCm39)	D579G	probably damaging	Het
Plcg1	C	A	2: 160,603,353 (GRCm39)	Q1175K	probably damaging	Het
Scml4	T	A	10: 42,833,746 (GRCm39)		probably benign	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc5a4b	A	G	10: 75,906,449 (GRCm39)	L390P	probably damaging	Het
Tectb	A	G	19: 55,172,445 (GRCm39)	Q164R	probably damaging	Het
Trim52	C	T	14: 106,344,623 (GRCm39)	Q94*	probably null	Het
Usp17ld	A	C	7: 102,899,870 (GRCm39)	V354G	probably benign	Het
Vmn2r24	T	C	6: 123,781,120 (GRCm39)	L442P	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
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
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

Posted On

2014-02-04