Mutagenetix > Incidental Mutation

Incidental Mutation 'R7943:Usp13'

649138

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

045989-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7943 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32817546-32938071 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32876940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 288 (H288Y)

Ref Sequence

ENSEMBL: ENSMUSP00000072155 (fasta)

Gene Model

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

AlphaFold

Q5BKP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000072312
AA Change: H288Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: H288Y

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 damaging
Transcript: ENSMUST00000108228
AA Change: H287Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: H287Y

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 damaging
Transcript: ENSMUST00000172481
AA Change: H288Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: H288Y

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,686,222 (GRCm38)	T205I	probably benign	Het
Acsbg1	T	C	9: 54,622,737 (GRCm38)	H225R	probably damaging	Het
Anks1	T	A	17: 27,985,204 (GRCm38)	Y209N	probably damaging	Het
Appl1	T	A	14: 26,945,568 (GRCm38)	I377L	probably benign	Het
Arl9	A	T	5: 77,010,548 (GRCm38)	D159V	probably damaging	Het
Arsa	A	C	15: 89,474,089 (GRCm38)	L339R	probably damaging	Het
C2	A	G	17: 34,872,378 (GRCm38)	L380P	probably damaging	Het
Ccdc13	A	G	9: 121,799,130 (GRCm38)	C97R	unknown	Het
Ccdc74a	A	G	16: 17,650,552 (GRCm38)	H346R	probably benign	Het
Ccnl1	T	C	3: 65,956,905 (GRCm38)	I152V	probably benign	Het
Cd4	C	T	6: 124,870,244 (GRCm38)		probably null	Het
Ceacam5	A	T	7: 17,745,566 (GRCm38)	I203L	probably benign	Het
Ckap2	C	A	8: 22,175,074 (GRCm38)	R458L	probably damaging	Het
Cldn10	T	C	14: 118,861,859 (GRCm38)		probably null	Het
Col27a1	C	T	4: 63,318,283 (GRCm38)	R1377C	unknown	Het
Cry1	A	T	10: 85,143,120 (GRCm38)	M514K	probably benign	Het
Crybg2	T	G	4: 134,072,984 (GRCm38)	V176G	probably damaging	Het
Cyp2j5	C	T	4: 96,659,612 (GRCm38)	G131D	possibly damaging	Het
Ddx46	A	G	13: 55,669,722 (GRCm38)	Y720C	probably damaging	Het
Dock10	A	T	1: 80,648,289 (GRCm38)	V44D	probably damaging	Het
Eif1ad8	C	T	12: 87,517,003 (GRCm38)	A36V	probably damaging	Het
Enam	A	T	5: 88,488,551 (GRCm38)		probably null	Het
Fam184a	C	T	10: 53,647,041 (GRCm38)	A956T	probably damaging	Het
Fam184a	C	A	10: 53,633,706 (GRCm38)	E126*	probably null	Het
Fbxw10	A	T	11: 62,850,661 (GRCm38)	R202*	probably null	Het
Fnip1	A	G	11: 54,502,388 (GRCm38)	E550G	probably damaging	Het
Gpr149	A	G	3: 62,530,711 (GRCm38)	L675P	probably damaging	Het
Hivep3	T	C	4: 120,132,357 (GRCm38)	Y2002H	probably benign	Het
Hp	A	G	8: 109,575,555 (GRCm38)	Y254H	probably damaging	Het
Ighg1	G	T	12: 113,330,337 (GRCm38)	T62N		Het
Jcad	A	G	18: 4,672,700 (GRCm38)	E154G	probably damaging	Het
Kmt2a	A	G	9: 44,849,140 (GRCm38)	S471P	probably damaging	Het
Med13	A	G	11: 86,278,526 (GRCm38)	V1968A	probably damaging	Het
Mknk2	T	A	10: 80,675,867 (GRCm38)	Q3L	probably benign	Het
Nup98	G	A	7: 102,194,822 (GRCm38)	T65I	probably benign	Het
Or10p21	T	A	10: 129,012,065 (GRCm38)	M260K	possibly damaging	Het
Or51f1e	G	A	7: 103,097,946 (GRCm38)	M68I	probably damaging	Het
Or5m11	A	G	2: 85,951,998 (GRCm38)	T312A	probably benign	Het
Or9i14	A	T	19: 13,815,236 (GRCm38)	M118K	probably damaging	Het
Pcdhgb4	C	T	18: 37,722,010 (GRCm38)	T486I	probably benign	Het
Perm1	T	A	4: 156,218,534 (GRCm38)	F512I	probably damaging	Het
Pgap3	A	T	11: 98,390,401 (GRCm38)	L262Q	probably damaging	Het
Pklr	A	C	3: 89,141,507 (GRCm38)	Y126S	probably damaging	Het
Ppl	C	T	16: 5,088,861 (GRCm38)	R1190H	probably damaging	Het
Ppm1k	T	C	6: 57,524,828 (GRCm38)	T117A	probably benign	Het
Prkd2	G	A	7: 16,850,319 (GRCm38)	E366K	probably benign	Het
Psd	C	A	19: 46,324,730 (GRCm38)	C67F	possibly damaging	Het
Ptpa	T	A	2: 30,432,044 (GRCm38)	F100L	probably damaging	Het
Rftn1	G	T	17: 50,047,380 (GRCm38)	A318D	probably damaging	Het
Rock1	T	C	18: 10,112,357 (GRCm38)	E466G	probably damaging	Het
Sec16b	A	T	1: 157,554,757 (GRCm38)	M588L	probably benign	Het
Serpina1f	T	A	12: 103,693,690 (GRCm38)	H111L	probably damaging	Het
Sf3a1	T	C	11: 4,166,537 (GRCm38)	I76T	possibly damaging	Het
Shcbp1	A	T	8: 4,748,812 (GRCm38)	L369Q	possibly damaging	Het
Spef2	A	G	15: 9,601,085 (GRCm38)	M1697T	unknown	Het
St7	G	A	6: 17,844,912 (GRCm38)	C133Y	probably damaging	Het
Tdpoz6	A	T	3: 93,692,763 (GRCm38)	C100S	probably benign	Het
Tex19.1	T	A	11: 121,147,160 (GRCm38)	W115R	possibly damaging	Het
Tfrc	T	A	16: 32,630,221 (GRCm38)	I726N	probably benign	Het
Thbs1	A	G	2: 118,119,617 (GRCm38)		probably null	Het
Trim43a	C	T	9: 88,582,185 (GRCm38)	P50S	probably benign	Het
Trpm4	A	T	7: 45,308,681 (GRCm38)	V935E	probably damaging	Het
Ttc12	A	T	9: 49,470,320 (GRCm38)	V117D	possibly damaging	Het
Ulbp1	T	C	10: 7,457,053 (GRCm38)	T82A	probably damaging	Het
Vmn2r82	A	G	10: 79,396,245 (GRCm38)	K693E	possibly damaging	Het
Vmn2r90	A	G	17: 17,712,304 (GRCm38)	T158A	probably damaging	Het
Vps8	A	G	16: 21,477,872 (GRCm38)	K540R	possibly damaging	Het
Zfp143	T	A	7: 110,072,474 (GRCm38)		probably null	Het
Zfp709	G	T	8: 71,890,089 (GRCm38)	C454F	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
R2229:Usp13	UTSW	3	32,917,551 (GRCm38)	missense	probably benign	0.02
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
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'- GCCTTCTCATTGGCGTATGC -3'
(R):5'- GTTTTGCAAGTAAGCCCCAAATG -3'

Sequencing Primer
(F):5'- TATGCCAGCCCTCCTGCAG -3'
(R):5'- CTAGATTGGTAACCCATATAAAGTGC -3'

Posted On

2020-09-15