Mutagenetix > Incidental Mutation

Incidental Mutation 'R9576:Usp13'

722266

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9576 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32871695-32992220 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 32969135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000072155 (fasta)

Gene Model

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

AlphaFold

Q5BKP2

Predicted Effect

probably null
Transcript: ENSMUST00000072312

SMART Domains

Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900

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

SMART Domains

Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900

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

probably benign
Transcript: ENSMUST00000156769

SMART Domains

Protein: ENSMUSP00000117605
Gene: ENSMUSG00000056900

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,947,843 (GRCm39)	I580N	probably benign	Het
Aars1	T	A	8: 111,768,296 (GRCm39)	Y222*	probably null	Het
Abi2	G	T	1: 60,449,008 (GRCm39)	R16L	possibly damaging	Het
Adam9	C	A	8: 25,445,953 (GRCm39)	V814F	probably benign	Het
Adgrv1	T	C	13: 81,691,608 (GRCm39)	T1660A	probably benign	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Arhgap26	T	A	18: 39,253,207 (GRCm39)	Y211*	probably null	Het
Ascc3	T	C	10: 50,494,254 (GRCm39)	Y230H	possibly damaging	Het
Btg4	C	A	9: 51,030,436 (GRCm39)	Q179K	probably damaging	Het
Ccdc150	G	T	1: 54,407,544 (GRCm39)	E1107*	probably null	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Cd200r4	A	G	16: 44,658,338 (GRCm39)	T241A		Het
Chd9	T	A	8: 91,659,294 (GRCm39)	S85T	unknown	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Col6a4	C	A	9: 105,945,271 (GRCm39)	A948S	probably benign	Het
Crygb	T	C	1: 65,119,686 (GRCm39)	D98G	probably benign	Het
Ctbp2	A	T	7: 132,616,198 (GRCm39)	S246T	probably benign	Het
Dcp1b	T	A	6: 119,196,993 (GRCm39)	Y563*	probably null	Het
Ddx59	T	A	1: 136,344,681 (GRCm39)	Y117*	probably null	Het
Dhx30	A	G	9: 109,916,712 (GRCm39)	L601P	probably damaging	Het
Dnah5	C	T	15: 28,272,286 (GRCm39)	T1030M	probably benign	Het
Dpp10	A	G	1: 123,269,409 (GRCm39)	S667P	probably damaging	Het
Epha7	G	A	4: 28,870,659 (GRCm39)	C312Y	probably damaging	Het
Gbf1	A	T	19: 46,248,122 (GRCm39)	T300S	probably benign	Het
Glp2r	T	C	11: 67,655,622 (GRCm39)	K40R	probably benign	Het
H2-Q5	G	A	17: 35,613,413 (GRCm39)	V49M		Het
Havcr1	T	A	11: 46,669,391 (GRCm39)	V290E	probably benign	Het
Hc	T	A	2: 34,873,767 (GRCm39)	T1656S	probably benign	Het
Hfm1	A	T	5: 107,021,938 (GRCm39)	I999N	probably benign	Het
Hoxc4	A	T	15: 102,944,384 (GRCm39)	E254V	probably benign	Het
Il5ra	T	C	6: 106,712,688 (GRCm39)	N275S	probably damaging	Het
Itfg2	C	A	6: 128,389,950 (GRCm39)	A272S	probably benign	Het
Itpr2	A	T	6: 146,212,505 (GRCm39)	I1537N	probably damaging	Het
Jakmip3	A	G	7: 138,621,988 (GRCm39)	E296G	probably damaging	Het
Jchain	T	G	5: 88,673,976 (GRCm39)	E56A	probably damaging	Het
Kcnh5	A	T	12: 74,944,307 (GRCm39)	S981T	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Klk1b4	A	T	7: 43,860,477 (GRCm39)	D165V	probably benign	Het
Krt1c	T	A	15: 101,719,792 (GRCm39)	Y626F	unknown	Het
Lrrk2	T	A	15: 91,636,388 (GRCm39)	L1454*	probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myo18a	T	A	11: 77,709,827 (GRCm39)	I607N	probably damaging	Het
Nefh	C	T	11: 4,891,222 (GRCm39)	E466K	possibly damaging	Het
Nudc	T	C	4: 133,262,989 (GRCm39)	E118G	probably benign	Het
Or2aj6	A	T	16: 19,442,961 (GRCm39)	D296E	probably damaging	Het
Or56a3	T	C	7: 104,735,760 (GRCm39)	L279S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Per1	T	A	11: 68,998,855 (GRCm39)	M1142K	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Plec	C	A	15: 76,115,377 (GRCm39)	A66S	probably benign	Het
Plekha7	T	C	7: 115,728,669 (GRCm39)	Y1199C	possibly damaging	Het
Pou2f2	C	A	7: 24,796,569 (GRCm39)	A302S	probably benign	Het
Prkag3	A	T	1: 74,787,082 (GRCm39)	W59R		Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Sash1	T	A	10: 8,620,299 (GRCm39)	M454L	probably benign	Het
Serpina3i	A	G	12: 104,234,730 (GRCm39)	T354A	probably benign	Het
Skap1	T	C	11: 96,472,030 (GRCm39)	F101S	probably benign	Het
Slc16a8	T	A	15: 79,136,182 (GRCm39)	Q340L	probably damaging	Het
Slc2a12	A	T	10: 22,578,004 (GRCm39)	Q600L	possibly damaging	Het
Slc39a14	T	G	14: 70,556,235 (GRCm39)	D47A	probably benign	Het
Slfn9	T	A	11: 82,878,211 (GRCm39)	Y306F	possibly damaging	Het
Sos1	T	C	17: 80,742,367 (GRCm39)	M387V	probably benign	Het
Srl	A	T	16: 4,301,031 (GRCm39)	L680Q	probably damaging	Het
Tas1r3	C	T	4: 155,946,822 (GRCm39)	R261H	probably benign	Het
Tm7sf3	C	A	6: 146,511,335 (GRCm39)	G385W	probably damaging	Het
Tmem191	C	T	16: 17,094,526 (GRCm39)	R62*	probably null	Het
Triobp	T	C	15: 78,844,266 (GRCm39)	S161P	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r230	C	A	17: 21,067,163 (GRCm39)	C117*	probably null	Het
Vmn2r50	T	C	7: 9,771,190 (GRCm39)	Q837R	probably benign	Het
Zfp618	T	C	4: 63,051,282 (GRCm39)	S688P	probably benign	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
R2229:Usp13	UTSW	3	32,971,700 (GRCm39)	missense	probably benign	0.02
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
X0064:Usp13	UTSW	3	32,940,738 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCATCTAAGTGCCCAAAGCC -3'
(R):5'- TCTTTGCTGAACTACCACGG -3'

Sequencing Primer
(F):5'- TAAGTGCCCAAAGCCTGCTG -3'
(R):5'- TACCTCGAATTCCAGGGAATCTG -3'

Posted On

2022-08-09