Mutagenetix > Incidental Mutation

Incidental Mutation 'R5466:Usp43'

501074

Institutional Source

Beutler Lab

Gene Symbol

Usp43

Ensembl Gene

ENSMUSG00000020905

Gene Name

ubiquitin specific peptidase 43

Synonyms

C630032K07Rik

MMRRC Submission

043027-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5466 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

67745349-67812979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67804709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 169 (N169K)

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: N169K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021288
Gene: ENSMUSG00000020905
AA Change: N169K

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

possibly damaging
Transcript: ENSMUST00000108677
AA Change: N169K

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104317
Gene: ENSMUSG00000020905
AA Change: N169K

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: ENSMUST00000152120

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,541,733 (GRCm39)	A17E	probably benign	Het
Actc1	T	C	2: 113,880,979 (GRCm39)	D82G	probably damaging	Het
Aox1	G	C	1: 58,080,619 (GRCm39)	E23Q	probably damaging	Het
Arap3	A	G	18: 38,129,789 (GRCm39)	V124A	probably benign	Het
Armc5	A	G	7: 127,839,336 (GRCm39)	N218S	probably damaging	Het
Cacna2d1	T	A	5: 16,451,712 (GRCm39)	V192E	probably damaging	Het
Col6a5	T	A	9: 105,808,282 (GRCm39)	E922V	unknown	Het
Dennd4b	G	A	3: 90,175,807 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,493,007 (GRCm39)	D1256G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpy19l1	T	C	9: 24,325,684 (GRCm39)	E707G	probably damaging	Het
Farp1	C	T	14: 121,472,489 (GRCm39)	P208L	probably damaging	Het
Fgf11	T	C	11: 69,690,267 (GRCm39)	I107V	probably damaging	Het
Fuca2	C	T	10: 13,388,441 (GRCm39)	Q406*	probably null	Het
Gm10428	A	G	11: 62,643,932 (GRCm39)		probably benign	Het
Gm17430	A	G	18: 9,726,228 (GRCm39)	V148A	probably benign	Het
Gm5930	A	T	14: 44,575,014 (GRCm39)	N57K	probably damaging	Het
Gucy2c	T	A	6: 136,758,463 (GRCm39)	K48*	probably null	Het
Ip6k2	C	T	9: 108,675,661 (GRCm39)	R109C	probably damaging	Het
Kif21b	T	A	1: 136,075,263 (GRCm39)	F159I	probably damaging	Het
Macf1	A	T	4: 123,346,658 (GRCm39)	S1981T	possibly damaging	Het
Mga	T	A	2: 119,733,178 (GRCm39)	L9M	probably damaging	Het
Mov10l1	T	C	15: 88,869,904 (GRCm39)		probably null	Het
Msrb1	A	T	17: 24,958,533 (GRCm39)	H39L	possibly damaging	Het
Or4c117	A	T	2: 88,955,477 (GRCm39)	F199L	probably benign	Het
Or6b1	A	T	6: 42,815,027 (GRCm39)	T71S	probably benign	Het
Pcdha1	G	A	18: 37,065,312 (GRCm39)	A659T	possibly damaging	Het
Pcm1	T	A	8: 41,725,499 (GRCm39)		probably null	Het
Rfpl4b	C	A	10: 38,697,394 (GRCm39)	C69F	probably damaging	Het
Tnn	G	A	1: 159,948,106 (GRCm39)	T869I	possibly damaging	Het
Trp53i11	C	A	2: 93,029,728 (GRCm39)	L121I	possibly damaging	Het
Uimc1	A	G	13: 55,223,661 (GRCm39)	S204P	probably damaging	Het
Vldlr	A	G	19: 27,217,243 (GRCm39)		probably null	Het
Vmn2r115	A	G	17: 23,579,030 (GRCm39)	I834M	probably damaging	Het
Zbtb21	A	G	16: 97,751,698 (GRCm39)	S690P	possibly damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	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
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
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'- TGTACACAGTGACTGGAAGACAC -3'
(R):5'- CGCCTTGTATTCAGAGGACC -3'

Sequencing Primer
(F):5'- CCTAAGGCGTTGAGGAAACAC -3'
(R):5'- CTTGTATTCAGAGGACCCATGTAC -3'

Posted On

2017-12-01