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

2700071E21Rik, IsoT-3, ISOT3

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

32871695-32992220 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32971700 bp (GRCm39)

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: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Adgb	A	T	10: 10,311,795 (GRCm39)	V212E	probably damaging	Het
Adgrg7	C	T	16: 56,572,766 (GRCm39)	S350N	probably benign	Het
Agbl1	A	G	7: 76,083,126 (GRCm39)	T448A	probably benign	Het
Aldh1l1	C	G	6: 90,560,168 (GRCm39)	T605R	probably damaging	Het
Arfip1	A	T	3: 84,455,280 (GRCm39)	N18K	probably damaging	Het
Atp6v1b2	C	A	8: 69,555,411 (GRCm39)		probably null	Het
Banp	G	A	8: 122,705,424 (GRCm39)	S98N	probably damaging	Het
Btnl9	T	C	11: 49,059,945 (GRCm39)	D601G	probably damaging	Het
C9	T	C	15: 6,474,901 (GRCm39)	I20T	possibly damaging	Het
Cacna1b	A	G	2: 24,575,816 (GRCm39)	V744A	probably damaging	Het
Catsper3	A	G	13: 55,955,867 (GRCm39)	E311G	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,718,772 (GRCm39)	Y615H	probably benign	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Eml4	C	T	17: 83,758,485 (GRCm39)	P502S	probably benign	Het
Fsip1	T	C	2: 118,052,925 (GRCm39)	E367G	probably benign	Het
Gja3	T	C	14: 57,274,171 (GRCm39)	D67G	probably damaging	Het
Gm4894	T	C	9: 49,185,490 (GRCm39)		probably benign	Het
Gm7853	A	G	14: 35,811,484 (GRCm39)		noncoding transcript	Het
Gmps	T	G	3: 63,921,684 (GRCm39)	Y562*	probably null	Het
Golga2	C	A	2: 32,196,477 (GRCm39)	P976T	probably benign	Het
Gpr182	T	A	10: 127,586,010 (GRCm39)	I314F	possibly damaging	Het
Gprc6a	A	G	10: 51,502,891 (GRCm39)	V324A	possibly damaging	Het
Gykl1	A	G	18: 52,828,339 (GRCm39)	T516A	probably benign	Het
H2ac21	T	C	3: 96,127,422 (GRCm39)	L64P	possibly damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Kif3c	T	A	12: 3,416,671 (GRCm39)	S231T	probably benign	Het
Kpna7	A	T	5: 144,926,507 (GRCm39)	Y482N	probably damaging	Het
Lmnb2	T	C	10: 80,740,226 (GRCm39)		probably benign	Het
Lrrc69	T	C	4: 14,773,694 (GRCm39)	S121G	probably benign	Het
Mppe1	A	G	18: 67,361,082 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,415,381 (GRCm39)	C2776S	possibly damaging	Het
Myh8	T	G	11: 67,199,174 (GRCm39)	N1893K	probably damaging	Het
Myo7a	T	C	7: 97,704,117 (GRCm39)	T1932A	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Nek5	A	T	8: 22,603,648 (GRCm39)	N151K	possibly damaging	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Oca2	T	A	7: 56,006,903 (GRCm39)	H663Q	probably benign	Het
Optn	T	A	2: 5,028,928 (GRCm39)	H525L	probably damaging	Het
Pdzph1	A	G	17: 59,239,407 (GRCm39)		probably benign	Het
Pikfyve	A	G	1: 65,307,014 (GRCm39)	K1801E	probably damaging	Het
Pkd2l2	G	A	18: 34,563,382 (GRCm39)	V478M	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Prpf19	A	G	19: 10,874,962 (GRCm39)	T39A	probably benign	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Rcan3	T	C	4: 135,152,688 (GRCm39)	D11G	probably benign	Het
Rgsl1	C	A	1: 153,698,104 (GRCm39)	W482L	possibly damaging	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Slc4a8	T	C	15: 100,707,180 (GRCm39)	I848T	probably damaging	Het
Slc7a13	T	C	4: 19,839,399 (GRCm39)	V334A	probably benign	Het
Smarcc2	A	G	10: 128,324,210 (GRCm39)		probably benign	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Spats2	T	C	15: 99,072,334 (GRCm39)		probably null	Het
Tas2r104	G	A	6: 131,662,095 (GRCm39)	H205Y	probably damaging	Het
Tcof1	A	G	18: 60,965,249 (GRCm39)		probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Trim25	T	A	11: 88,907,447 (GRCm39)	V602E	probably damaging	Het
Ttll9	A	G	2: 152,824,983 (GRCm39)	E54G	probably damaging	Het
Ttn	T	C	2: 76,559,668 (GRCm39)	T29578A	probably damaging	Het
Tubgcp5	A	G	7: 55,480,629 (GRCm39)	Q960R	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r67	T	A	7: 84,801,250 (GRCm39)	I229F	probably benign	Het
Vmn2r92	A	C	17: 18,387,654 (GRCm39)	I220L	probably benign	Het
Wnk4	T	A	11: 101,166,467 (GRCm39)		probably benign	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc5	A	G	2: 84,520,557 (GRCm39)	I540T	probably damaging	Het
Zfp729b	T	C	13: 67,743,384 (GRCm39)	I60M	probably damaging	Het

Other mutations in Usp13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Usp13	APN	3	32,935,560 (GRCm39)	missense	probably damaging	0.98
IGL00949:Usp13	APN	3	32,940,726 (GRCm39)	missense	possibly damaging	0.57
IGL01637:Usp13	APN	3	32,973,213 (GRCm39)	missense	probably benign	0.02
IGL01983:Usp13	APN	3	32,971,608 (GRCm39)	missense	probably damaging	1.00
IGL02002:Usp13	APN	3	32,901,974 (GRCm39)	missense	probably damaging	0.97
IGL02065:Usp13	APN	3	32,987,314 (GRCm39)	missense	probably damaging	1.00
IGL02390:Usp13	APN	3	32,985,865 (GRCm39)	nonsense	probably null
IGL02399:Usp13	APN	3	32,973,209 (GRCm39)	missense	probably damaging	1.00
IGL02535:Usp13	APN	3	32,892,075 (GRCm39)	missense	probably benign	0.43
IGL02863:Usp13	APN	3	32,973,096 (GRCm39)	missense	possibly damaging	0.95
IGL03017:Usp13	APN	3	32,969,861 (GRCm39)	missense	possibly damaging	0.90
IGL03242:Usp13	APN	3	32,956,218 (GRCm39)	missense	probably benign	0.17
PIT4504001:Usp13	UTSW	3	32,959,579 (GRCm39)	missense	probably damaging	1.00
R0113:Usp13	UTSW	3	32,872,025 (GRCm39)	splice site	probably benign
R0233:Usp13	UTSW	3	32,969,813 (GRCm39)	splice site	probably null
R0233:Usp13	UTSW	3	32,969,813 (GRCm39)	splice site	probably null
R1241:Usp13	UTSW	3	32,969,857 (GRCm39)	missense	probably damaging	1.00
R1765:Usp13	UTSW	3	32,969,919 (GRCm39)	missense	probably benign	0.01
R2105:Usp13	UTSW	3	32,956,135 (GRCm39)	missense	probably damaging	0.97
R2381:Usp13	UTSW	3	32,935,658 (GRCm39)	critical splice donor site	probably null
R2389:Usp13	UTSW	3	32,959,613 (GRCm39)	missense	probably benign	0.16
R3801:Usp13	UTSW	3	32,935,657 (GRCm39)	missense	possibly damaging	0.75
R4062:Usp13	UTSW	3	32,935,572 (GRCm39)	missense	probably damaging	1.00
R4653:Usp13	UTSW	3	32,892,073 (GRCm39)	missense	probably damaging	0.99
R5123:Usp13	UTSW	3	32,969,947 (GRCm39)	missense	probably benign	0.03
R5454:Usp13	UTSW	3	32,959,585 (GRCm39)	missense	probably damaging	1.00
R5527:Usp13	UTSW	3	32,919,987 (GRCm39)	missense	probably damaging	1.00
R5582:Usp13	UTSW	3	32,965,738 (GRCm39)	missense	probably damaging	1.00
R5589:Usp13	UTSW	3	32,892,007 (GRCm39)	missense	probably damaging	1.00
R5829:Usp13	UTSW	3	32,940,672 (GRCm39)	missense	possibly damaging	0.68
R6114:Usp13	UTSW	3	32,908,818 (GRCm39)	missense	probably damaging	1.00
R6625:Usp13	UTSW	3	32,949,025 (GRCm39)	missense	probably damaging	0.98
R6680:Usp13	UTSW	3	32,935,618 (GRCm39)	missense	probably damaging	0.98
R7175:Usp13	UTSW	3	32,971,757 (GRCm39)	nonsense	probably null
R7232:Usp13	UTSW	3	32,920,020 (GRCm39)	missense	probably benign	0.05
R7242:Usp13	UTSW	3	32,919,892 (GRCm39)	splice site	probably null
R7263:Usp13	UTSW	3	32,949,000 (GRCm39)	missense	probably damaging	1.00
R7533:Usp13	UTSW	3	32,973,091 (GRCm39)	missense	probably damaging	0.99
R7716:Usp13	UTSW	3	32,892,005 (GRCm39)	nonsense	probably null
R7734:Usp13	UTSW	3	32,892,054 (GRCm39)	missense	probably benign	0.13
R7943:Usp13	UTSW	3	32,931,089 (GRCm39)	missense	probably damaging	1.00
R8075:Usp13	UTSW	3	32,985,852 (GRCm39)	missense	probably damaging	1.00
R8141:Usp13	UTSW	3	32,949,025 (GRCm39)	missense	possibly damaging	0.52
R8259:Usp13	UTSW	3	32,971,748 (GRCm39)	nonsense	probably null
R8722:Usp13	UTSW	3	32,956,114 (GRCm39)	missense	probably benign	0.00
R8905:Usp13	UTSW	3	32,935,572 (GRCm39)	missense	probably damaging	1.00
R9060:Usp13	UTSW	3	32,965,812 (GRCm39)	critical splice donor site	probably null
R9081:Usp13	UTSW	3	32,935,542 (GRCm39)	missense	probably benign	0.00
R9260:Usp13	UTSW	3	32,955,909 (GRCm39)	intron	probably benign
R9576:Usp13	UTSW	3	32,969,135 (GRCm39)	critical splice acceptor site	probably null
X0064:Usp13	UTSW	3	32,940,738 (GRCm39)	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