Mutagenetix > Incidental Mutation

Incidental Mutation 'R2229:Usp13'

239579

Institutional Source

Beutler Lab

Gene Symbol

Usp13

Ensembl Gene

ENSMUSG00000056900

Gene Name

ubiquitin specific peptidase 13 (isopeptidase T-3)

Synonyms

ISOT3, 2700071E21Rik, IsoT-3

MMRRC Submission

040230-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32817546-32938071 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32917551 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 727 (I727V)

Ref Sequence

ENSEMBL: ENSMUSP00000072155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072312] [ENSMUST00000108228] [ENSMUST00000172481]

AlphaFold

Q5BKP2

Predicted Effect

probably benign
Transcript: ENSMUST00000072312
AA Change: I727V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: I727V

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Blast:ZnF_UBP	46	91	1e-17	BLAST
low complexity region	116	134	N/A	INTRINSIC
ZnF_UBP	208	263	2.91e-20	SMART
low complexity region	625	639	N/A	INTRINSIC
UBA	652	690	1.25e-6	SMART
UBA	724	761	1.19e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108228
AA Change: I726V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: I726V

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Blast:ZnF_UBP	46	91	1e-17	BLAST
low complexity region	115	133	N/A	INTRINSIC
ZnF_UBP	207	262	2.91e-20	SMART
low complexity region	624	638	N/A	INTRINSIC
UBA	651	689	1.25e-6	SMART
UBA	723	760	1.19e-12	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000156769
AA Change: I83V

SMART Domains

Protein: ENSMUSP00000117605
Gene: ENSMUSG00000056900
AA Change: I83V

Domain	Start	End	E-Value	Type
UBA	9	47	1.25e-6	SMART
UBA	81	118	1.19e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172481

SMART Domains

Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Blast:ZnF_UBP	46	91	9e-18	BLAST
low complexity region	116	134	N/A	INTRINSIC
ZnF_UBP	208	263	2.91e-20	SMART
Pfam:UCH	333	523	5.1e-27	PFAM

Meta Mutation Damage Score

0.1149

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	T	8: 40,680,365 (GRCm38)	I291L	probably benign	Het
Adcy8	C	A	15: 64,822,207 (GRCm38)	R407L	possibly damaging	Het
Adgb	A	T	10: 10,436,051 (GRCm38)	V212E	probably damaging	Het
Adgrg7	C	T	16: 56,752,403 (GRCm38)	S350N	probably benign	Het
Agbl1	A	G	7: 76,433,378 (GRCm38)	T448A	probably benign	Het
Aldh1l1	C	G	6: 90,583,186 (GRCm38)	T605R	probably damaging	Het
Arfip1	A	T	3: 84,547,973 (GRCm38)	N18K	probably damaging	Het
Atp6v1b2	C	A	8: 69,102,759 (GRCm38)		probably null	Het
Banp	G	A	8: 121,978,685 (GRCm38)	S98N	probably damaging	Het
Btnl9	T	C	11: 49,169,118 (GRCm38)	D601G	probably damaging	Het
C9	T	C	15: 6,445,420 (GRCm38)	I20T	possibly damaging	Het
Cacna1b	A	G	2: 24,685,804 (GRCm38)	V744A	probably damaging	Het
Catsper3	A	G	13: 55,808,054 (GRCm38)	E311G	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm38)		probably null	Het
Cdc5l	A	G	17: 45,407,846 (GRCm38)	Y615H	probably benign	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 134,074,526 (GRCm38)		probably benign	Het
Eml4	C	T	17: 83,451,056 (GRCm38)	P502S	probably benign	Het
Fsip1	T	C	2: 118,222,444 (GRCm38)	E367G	probably benign	Het
Gja3	T	C	14: 57,036,714 (GRCm38)	D67G	probably damaging	Het
Gm4894	T	C	9: 49,274,190 (GRCm38)		probably benign	Het
Gm7853	A	G	14: 36,089,527 (GRCm38)		noncoding transcript	Het
Gmps	T	G	3: 64,014,263 (GRCm38)	Y562*	probably null	Het
Golga2	C	A	2: 32,306,465 (GRCm38)	P976T	probably benign	Het
Gpr182	T	A	10: 127,750,141 (GRCm38)	I314F	possibly damaging	Het
Gprc6a	A	G	10: 51,626,795 (GRCm38)	V324A	possibly damaging	Het
Gykl1	A	G	18: 52,695,267 (GRCm38)	T516A	probably benign	Het
Hist2h2ab	T	C	3: 96,220,106 (GRCm38)	L64P	possibly damaging	Het
Ifit1bl2	G	T	19: 34,619,230 (GRCm38)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,333,496 (GRCm38)	S920P	probably damaging	Het
Kif3c	T	A	12: 3,366,671 (GRCm38)	S231T	probably benign	Het
Kpna7	A	T	5: 144,989,697 (GRCm38)	Y482N	probably damaging	Het
Lmnb2	T	C	10: 80,904,392 (GRCm38)		probably benign	Het
Lrrc69	T	C	4: 14,773,694 (GRCm38)	S121G	probably benign	Het
Mppe1	A	G	18: 67,228,011 (GRCm38)		probably null	Het
Muc5b	T	A	7: 141,861,644 (GRCm38)	C2776S	possibly damaging	Het
Myh8	T	G	11: 67,308,348 (GRCm38)	N1893K	probably damaging	Het
Myo7a	T	C	7: 98,054,910 (GRCm38)	T1932A	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm38)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,455,934 (GRCm38)		probably null	Het
Nek5	A	T	8: 22,113,632 (GRCm38)	N151K	possibly damaging	Het
Nup93	C	T	8: 94,304,191 (GRCm38)	T305I	probably benign	Het
Oca2	T	A	7: 56,357,155 (GRCm38)	H663Q	probably benign	Het
Optn	T	A	2: 5,024,117 (GRCm38)	H525L	probably damaging	Het
Pdzph1	A	G	17: 58,932,412 (GRCm38)		probably benign	Het
Pikfyve	A	G	1: 65,267,855 (GRCm38)	K1801E	probably damaging	Het
Pkd2l2	G	A	18: 34,430,329 (GRCm38)	V478M	probably damaging	Het
Pmepa1	G	A	2: 173,228,133 (GRCm38)	R210W	probably damaging	Het
Ppp1r3c	C	A	19: 36,733,698 (GRCm38)	R224L	probably benign	Het
Prpf19	A	G	19: 10,897,598 (GRCm38)	T39A	probably benign	Het
Pwwp2b	T	C	7: 139,255,188 (GRCm38)	C182R	probably damaging	Het
Rcan3	T	C	4: 135,425,377 (GRCm38)	D11G	probably benign	Het
Rgsl1	C	A	1: 153,822,358 (GRCm38)	W482L	possibly damaging	Het
Sfxn4	C	T	19: 60,851,020 (GRCm38)	G200E	probably damaging	Het
Slc4a8	T	C	15: 100,809,299 (GRCm38)	I848T	probably damaging	Het
Slc7a13	T	C	4: 19,839,399 (GRCm38)	V334A	probably benign	Het
Smarcc2	A	G	10: 128,488,341 (GRCm38)		probably benign	Het
Spata18	A	T	5: 73,666,901 (GRCm38)	I156L	possibly damaging	Het
Spats2	T	C	15: 99,174,453 (GRCm38)		probably null	Het
Tas2r104	G	A	6: 131,685,132 (GRCm38)	H205Y	probably damaging	Het
Tcof1	A	G	18: 60,832,177 (GRCm38)		probably benign	Het
Tex15	C	A	8: 33,571,237 (GRCm38)	H232N	probably benign	Het
Tg	A	T	15: 66,674,011 (GRCm38)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,644,776 (GRCm38)		probably null	Het
Trim25	T	A	11: 89,016,621 (GRCm38)	V602E	probably damaging	Het
Ttll9	A	G	2: 152,983,063 (GRCm38)	E54G	probably damaging	Het
Ttn	T	C	2: 76,729,324 (GRCm38)	T29578A	probably damaging	Het
Tubgcp5	A	G	7: 55,830,881 (GRCm38)	Q960R	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm38)	P46S	probably benign	Het
Vmn2r67	T	A	7: 85,152,042 (GRCm38)	I229F	probably benign	Het
Vmn2r92	A	C	17: 18,167,392 (GRCm38)	I220L	probably benign	Het
Wnk4	T	A	11: 101,275,641 (GRCm38)		probably benign	Het
Wwp1	A	T	4: 19,641,745 (GRCm38)	Y437N	probably damaging	Het
Zdhhc5	A	G	2: 84,690,213 (GRCm38)	I540T	probably damaging	Het
Zfp729b	T	C	13: 67,595,265 (GRCm38)	I60M	probably damaging	Het

Other mutations in Usp13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Usp13	APN	3	32,881,411 (GRCm38)	missense	probably damaging	0.98
IGL00949:Usp13	APN	3	32,886,577 (GRCm38)	missense	possibly damaging	0.57
IGL01637:Usp13	APN	3	32,919,064 (GRCm38)	missense	probably benign	0.02
IGL01983:Usp13	APN	3	32,917,459 (GRCm38)	missense	probably damaging	1.00
IGL02002:Usp13	APN	3	32,847,825 (GRCm38)	missense	probably damaging	0.97
IGL02065:Usp13	APN	3	32,933,165 (GRCm38)	missense	probably damaging	1.00
IGL02390:Usp13	APN	3	32,931,716 (GRCm38)	nonsense	probably null
IGL02399:Usp13	APN	3	32,919,060 (GRCm38)	missense	probably damaging	1.00
IGL02535:Usp13	APN	3	32,837,926 (GRCm38)	missense	probably benign	0.43
IGL02863:Usp13	APN	3	32,918,947 (GRCm38)	missense	possibly damaging	0.95
IGL03017:Usp13	APN	3	32,915,712 (GRCm38)	missense	possibly damaging	0.90
IGL03242:Usp13	APN	3	32,902,069 (GRCm38)	missense	probably benign	0.17
PIT4504001:Usp13	UTSW	3	32,905,430 (GRCm38)	missense	probably damaging	1.00
R0113:Usp13	UTSW	3	32,817,876 (GRCm38)	splice site	probably benign
R0233:Usp13	UTSW	3	32,915,664 (GRCm38)	splice site	probably null
R0233:Usp13	UTSW	3	32,915,664 (GRCm38)	splice site	probably null
R1241:Usp13	UTSW	3	32,915,708 (GRCm38)	missense	probably damaging	1.00
R1765:Usp13	UTSW	3	32,915,770 (GRCm38)	missense	probably benign	0.01
R2105:Usp13	UTSW	3	32,901,986 (GRCm38)	missense	probably damaging	0.97
R2381:Usp13	UTSW	3	32,881,509 (GRCm38)	critical splice donor site	probably null
R2389:Usp13	UTSW	3	32,905,464 (GRCm38)	missense	probably benign	0.16
R3801:Usp13	UTSW	3	32,881,508 (GRCm38)	missense	possibly damaging	0.75
R4062:Usp13	UTSW	3	32,881,423 (GRCm38)	missense	probably damaging	1.00
R4653:Usp13	UTSW	3	32,837,924 (GRCm38)	missense	probably damaging	0.99
R5123:Usp13	UTSW	3	32,915,798 (GRCm38)	missense	probably benign	0.03
R5454:Usp13	UTSW	3	32,905,436 (GRCm38)	missense	probably damaging	1.00
R5527:Usp13	UTSW	3	32,865,838 (GRCm38)	missense	probably damaging	1.00
R5582:Usp13	UTSW	3	32,911,589 (GRCm38)	missense	probably damaging	1.00
R5589:Usp13	UTSW	3	32,837,858 (GRCm38)	missense	probably damaging	1.00
R5829:Usp13	UTSW	3	32,886,523 (GRCm38)	missense	possibly damaging	0.68
R6114:Usp13	UTSW	3	32,854,669 (GRCm38)	missense	probably damaging	1.00
R6625:Usp13	UTSW	3	32,894,876 (GRCm38)	missense	probably damaging	0.98
R6680:Usp13	UTSW	3	32,881,469 (GRCm38)	missense	probably damaging	0.98
R7175:Usp13	UTSW	3	32,917,608 (GRCm38)	nonsense	probably null
R7232:Usp13	UTSW	3	32,865,871 (GRCm38)	missense	probably benign	0.05
R7242:Usp13	UTSW	3	32,865,743 (GRCm38)	splice site	probably null
R7263:Usp13	UTSW	3	32,894,851 (GRCm38)	missense	probably damaging	1.00
R7533:Usp13	UTSW	3	32,918,942 (GRCm38)	missense	probably damaging	0.99
R7716:Usp13	UTSW	3	32,837,856 (GRCm38)	nonsense	probably null
R7734:Usp13	UTSW	3	32,837,905 (GRCm38)	missense	probably benign	0.13
R7943:Usp13	UTSW	3	32,876,940 (GRCm38)	missense	probably damaging	1.00
R8075:Usp13	UTSW	3	32,931,703 (GRCm38)	missense	probably damaging	1.00
R8141:Usp13	UTSW	3	32,894,876 (GRCm38)	missense	possibly damaging	0.52
R8259:Usp13	UTSW	3	32,917,599 (GRCm38)	nonsense	probably null
R8722:Usp13	UTSW	3	32,901,965 (GRCm38)	missense	probably benign	0.00
R8905:Usp13	UTSW	3	32,881,423 (GRCm38)	missense	probably damaging	1.00
R9060:Usp13	UTSW	3	32,911,663 (GRCm38)	critical splice donor site	probably null
R9081:Usp13	UTSW	3	32,881,393 (GRCm38)	missense	probably benign	0.00
R9260:Usp13	UTSW	3	32,901,760 (GRCm38)	intron	probably benign
R9576:Usp13	UTSW	3	32,914,986 (GRCm38)	critical splice acceptor site	probably null
X0064:Usp13	UTSW	3	32,886,589 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTATTTTCCACATTGCTCCTGAAA -3'
(R):5'- ACCTCGAGTCCCTCATTGA -3'

Sequencing Primer
(F):5'- CCTGAAATGCCTGTTTTCAAGAC -3'
(R):5'- CTTCATGAGCTATGATGGGACAC -3'

Posted On

2014-10-15