Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03155:Usp43'

411233

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp43

Ensembl Gene

ENSMUSG00000020905

Gene Name

ubiquitin specific peptidase 43

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03155

Quality Score

Status

Chromosome

Chromosomal Location

67854523-67922153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67876489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 680 (D680G)

Ref Sequence

ENSEMBL: ENSMUSP00000104317 (fasta)

Gene Model

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

AlphaFold

Q8BUM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000021288
AA Change: D685G

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

SMART Domains

Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: D685G

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: D680G

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

SMART Domains

Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: D680G

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	T	2: 131,546,081	R518H	probably benign	Het
Akr7a5	T	A	4: 139,314,526	C190*	probably null	Het
Cct2	A	T	10: 117,060,671	L209Q	probably damaging	Het
Chordc1	T	A	9: 18,304,320	S123T	possibly damaging	Het
Crtap	T	C	9: 114,380,049	D309G	possibly damaging	Het
Csf2	T	C	11: 54,247,671	T115A	possibly damaging	Het
Dgkb	T	A	12: 38,139,459	I287N	probably damaging	Het
Dyrk1b	G	A	7: 28,182,687	D98N	probably benign	Het
Eif4g1	T	C	16: 20,692,417	S1550P	probably damaging	Het
Fam83e	A	G	7: 45,727,075	E404G	possibly damaging	Het
Fryl	G	A	5: 73,076,695	P1496S	probably benign	Het
Fsip1	A	T	2: 118,251,739	N71K	probably benign	Het
Gm5092	A	T	17: 21,094,708		noncoding transcript	Het
Gnb1l	T	A	16: 18,540,532		probably null	Het
Got1l1	T	C	8: 27,199,332	Y233C	probably damaging	Het
Katnbl1	T	A	2: 112,409,232		probably null	Het
Kcnn2	A	G	18: 45,685,315	E493G	probably damaging	Het
Kif26b	C	T	1: 178,874,128	R691W	probably damaging	Het
Lrp2	A	T	2: 69,455,452		probably benign	Het
Mast3	A	G	8: 70,789,217	S107P	probably damaging	Het
Mrc1	A	G	2: 14,331,101	N1433D	probably benign	Het
Mycbp2	G	A	14: 103,155,453	S3114L	probably benign	Het
Naip6	T	A	13: 100,316,424	H43L	possibly damaging	Het
Nin	A	T	12: 70,031,770	C1681S	probably damaging	Het
Nnmt	C	T	9: 48,592,052	V225M	probably damaging	Het
Olfr1233	A	T	2: 89,339,966	M112K	probably damaging	Het
Olfr694	A	T	7: 106,689,239	M164K	probably damaging	Het
Phf21a	T	G	2: 92,320,266	V64G	probably damaging	Het
Ptprd	A	T	4: 76,066,219	S800R	possibly damaging	Het
Scarf2	C	T	16: 17,807,549	P823S	probably benign	Het
Scn5a	T	C	9: 119,512,182	T1212A	possibly damaging	Het
Slc38a10	C	T	11: 120,105,119	V1043I	probably damaging	Het
Stxbp5	A	T	10: 9,816,290	L370Q	probably null	Het
Tas1r2	T	C	4: 139,669,156	V602A	possibly damaging	Het
Tatdn1	T	C	15: 58,916,196		probably benign	Het
Tdrd6	A	T	17: 43,625,507	L1550Q	probably damaging	Het
Tet3	G	T	6: 83,368,383	R1556S	probably damaging	Het
Tnpo2	T	A	8: 85,045,080	I249N	probably benign	Het
Tnxb	G	T	17: 34,713,595	V2263F	probably damaging	Het
Trim75	C	T	8: 64,983,340	V153M	possibly damaging	Het
Ttc21a	T	A	9: 119,943,976		probably null	Het
Tuft1	T	A	3: 94,634,514	I61L	possibly damaging	Het
Vac14	A	G	8: 110,636,343	I274V	possibly damaging	Het
Vmn1r222	T	A	13: 23,232,693	R117W	probably damaging	Het
Vmn1r83	T	C	7: 12,321,690	M147V	probably benign	Het
Vmn2r43	T	A	7: 8,255,069	I382L	possibly damaging	Het
Vmn2r63	C	T	7: 42,903,454	V793I	probably damaging	Het
Vopp1	A	G	6: 57,762,507	Y19H	possibly damaging	Het
Yeats2	T	C	16: 20,229,573		probably null	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
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
R4355:Usp43	UTSW	11	67891464	missense	probably benign	0.01
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

Posted On

2016-08-02