Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01536:Usp43'

89956

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 #

IGL01536

Quality Score

Status

Chromosome

Chromosomal Location

67745349-67812979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67746764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 981 (D981G)

Ref Sequence

ENSEMBL: ENSMUSP00000021288 (fasta)

Gene Model

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

AlphaFold

Q8BUM9

Predicted Effect

probably benign
Transcript: ENSMUST00000021288
AA Change: D981G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: D981G

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: D976G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: D976G

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp5f1a	T	C	18: 77,868,012 (GRCm39)		probably benign	Het
Ccnc	A	G	4: 21,732,505 (GRCm39)	I81V	probably benign	Het
Cep112	A	G	11: 108,422,237 (GRCm39)	D560G	probably null	Het
Dis3	A	G	14: 99,316,859 (GRCm39)	Y826H	probably damaging	Het
Dtx2	A	G	5: 136,038,940 (GRCm39)		probably benign	Het
Enpp4	T	C	17: 44,410,494 (GRCm39)	K361E	possibly damaging	Het
Erap1	A	T	13: 74,810,542 (GRCm39)	K294*	probably null	Het
Erbb4	T	A	1: 68,329,441 (GRCm39)	Y636F	probably benign	Het
Fads1	C	A	19: 10,171,394 (GRCm39)	Q342K	probably benign	Het
Fntb	A	T	12: 76,966,904 (GRCm39)	T447S	probably benign	Het
Hdac4	A	G	1: 91,857,868 (GRCm39)		probably benign	Het
Kcnh2	A	G	5: 24,531,522 (GRCm39)	I463T	probably damaging	Het
Kif13a	G	T	13: 46,905,765 (GRCm39)	T726K	probably damaging	Het
Lcmt1	T	C	7: 123,021,966 (GRCm39)	S275P	possibly damaging	Het
Lmnb1	T	C	18: 56,873,868 (GRCm39)	S425P	probably benign	Het
Lrp1b	T	C	2: 41,000,895 (GRCm39)	I2224V	probably benign	Het
Lrrc45	A	T	11: 120,606,410 (GRCm39)	T173S	probably benign	Het
Muc4	T	C	16: 32,584,340 (GRCm39)	Y2590H	possibly damaging	Het
Myo18a	C	T	11: 77,711,677 (GRCm39)	P676L	probably damaging	Het
Or5m10	T	C	2: 85,717,944 (GRCm39)	S267P	probably damaging	Het
Pcdhb15	T	C	18: 37,608,046 (GRCm39)	M426T	probably benign	Het
Pik3cd	A	G	4: 149,737,123 (GRCm39)	V891A	probably damaging	Het
Polr1b	A	G	2: 128,967,475 (GRCm39)	N956S	probably benign	Het
Ppil3	T	C	1: 58,483,750 (GRCm39)	M1V	probably null	Het
Rad1	T	A	15: 10,493,286 (GRCm39)	S238T	possibly damaging	Het
Shc3	A	C	13: 51,670,595 (GRCm39)	S51A	probably damaging	Het
Slc9c1	T	C	16: 45,409,992 (GRCm39)		probably null	Het
Smg5	A	G	3: 88,256,552 (GRCm39)	K273E	possibly damaging	Het
Sntg1	C	T	1: 8,653,424 (GRCm39)		probably null	Het
Sstr4	T	C	2: 148,237,800 (GRCm39)	L137P	probably damaging	Het
Taar8b	C	T	10: 23,967,493 (GRCm39)	V234I	probably benign	Het
Tbc1d9	A	G	8: 83,987,621 (GRCm39)	Y860C	probably damaging	Het
Tll1	A	T	8: 64,527,323 (GRCm39)	S399R	probably damaging	Het
Tns1	T	C	1: 73,958,807 (GRCm39)		probably benign	Het
Trim10	T	A	17: 37,188,180 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,562,695 (GRCm39)		probably null	Het
Vmn2r108	A	T	17: 20,683,543 (GRCm39)	C554S	probably damaging	Het
Vmn2r112	T	A	17: 22,824,136 (GRCm39)	Y464N	probably damaging	Het
Vmn2r31	T	C	7: 7,387,847 (GRCm39)	K575E	probably damaging	Het
Vmn2r50	C	T	7: 9,771,610 (GRCm39)	C697Y	probably damaging	Het
Zcchc8	A	C	5: 123,858,782 (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
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
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

2013-12-03