Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Usp13'

230847

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

040109-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32871695-32992220 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32956135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 469 (D469V)

Ref Sequence

ENSEMBL: ENSMUSP00000133823 (fasta)

Gene Model

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

AlphaFold

Q5BKP2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072312
AA Change: D469V

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: D469V

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

possibly damaging
Transcript: ENSMUST00000108228
AA Change: D468V

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: D468V

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: D469V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: D469V

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,650,459 (GRCm39)	P1189L	probably benign	Het
Acbd4	G	A	11: 102,995,265 (GRCm39)	D57N	probably damaging	Het
Acot4	A	T	12: 84,085,516 (GRCm39)	M78L	probably damaging	Het
Ago1	A	T	4: 126,355,581 (GRCm39)	M76K	probably benign	Het
Agrn	G	T	4: 156,261,756 (GRCm39)	Y511*	probably null	Het
Arhgef15	A	T	11: 68,838,507 (GRCm39)		probably null	Het
Atp1a3	A	T	7: 24,689,278 (GRCm39)	M594K	probably damaging	Het
Atp4a	G	A	7: 30,419,793 (GRCm39)		probably null	Het
Bckdk	T	A	7: 127,506,489 (GRCm39)	I272N	probably damaging	Het
Bod1l	A	G	5: 41,989,622 (GRCm39)	V367A	probably benign	Het
C1galt1c1	T	C	X: 37,720,145 (GRCm39)	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,366,105 (GRCm39)	C4*	probably null	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chil3	T	C	3: 106,067,794 (GRCm39)	I124V	possibly damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Cyp2c67	T	C	19: 39,614,681 (GRCm39)	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,770,793 (GRCm39)	A1201T	probably benign	Het
Dock4	A	G	12: 40,742,988 (GRCm39)	H381R	probably benign	Het
Drc1	C	T	5: 30,513,785 (GRCm39)	S447F	probably benign	Het
Fam83g	G	T	11: 61,594,284 (GRCm39)	R606L	probably benign	Het
Fmnl1	A	C	11: 103,085,518 (GRCm39)	S688R	probably benign	Het
Fryl	C	T	5: 73,279,642 (GRCm39)	V219I	probably benign	Het
Golgb1	T	A	16: 36,735,026 (GRCm39)	N1424K	probably benign	Het
Gpr39	T	C	1: 125,605,621 (GRCm39)	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,351,409 (GRCm39)	Y274N	probably benign	Het
Hif1a	T	A	12: 73,984,519 (GRCm39)	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,138,267 (GRCm39)	M787K	probably damaging	Het
Hipk3	T	C	2: 104,269,737 (GRCm39)	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,954,490 (GRCm39)	F291I	probably benign	Het
Ino80	T	C	2: 119,262,410 (GRCm39)	E692G	probably null	Het
Itgam	T	A	7: 127,680,884 (GRCm39)	V271D	probably damaging	Het
Kansl1	A	C	11: 104,226,385 (GRCm39)	I924S	probably damaging	Het
Kcnq2	A	G	2: 180,723,145 (GRCm39)	C628R	probably benign	Het
Krt78	A	C	15: 101,855,849 (GRCm39)	V654G	possibly damaging	Het
Lrit2	A	G	14: 36,793,913 (GRCm39)	T326A	probably damaging	Het
Ltk	T	C	2: 119,582,569 (GRCm39)	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,042,285 (GRCm39)	L53S	probably damaging	Het
Mc4r	T	C	18: 66,992,669 (GRCm39)	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,973,162 (GRCm39)	Q172*	probably null	Het
Mknk2	A	G	10: 80,504,435 (GRCm39)	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,216,573 (GRCm39)	H167L	probably benign	Het
Myc	T	C	15: 61,859,951 (GRCm39)	V208A	probably damaging	Het
Myh7b	A	G	2: 155,471,377 (GRCm39)	E1175G	probably benign	Het
Myo18a	A	T	11: 77,741,060 (GRCm39)	M1456L	probably benign	Het
Myocd	G	A	11: 65,109,484 (GRCm39)	Q96*	probably null	Het
Nckap5	T	A	1: 125,954,255 (GRCm39)	I766F	probably damaging	Het
Ndst1	T	C	18: 60,824,325 (GRCm39)	E784G	probably benign	Het
Nf1	A	T	11: 79,360,652 (GRCm39)	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,361,072 (GRCm39)	W228R	probably damaging	Het
Nup107	G	A	10: 117,609,225 (GRCm39)	T378I	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or1o3	A	T	17: 37,573,964 (GRCm39)	M197K	probably benign	Het
Or52d13	T	A	7: 103,109,480 (GRCm39)		probably null	Het
Or5m3b	C	T	2: 85,871,674 (GRCm39)	T5I	probably damaging	Het
Or5w11	A	G	2: 87,459,283 (GRCm39)	T159A	probably benign	Het
Or6b13	T	A	7: 139,782,656 (GRCm39)	D9V	probably benign	Het
Otop1	A	G	5: 38,457,801 (GRCm39)	D520G	probably benign	Het
Papln	C	T	12: 83,827,010 (GRCm39)	P712S	probably benign	Het
Pcbd2	T	A	13: 55,880,846 (GRCm39)	I34N	probably damaging	Het
Pkd1l3	T	A	8: 110,374,205 (GRCm39)	C29*	probably null	Het
Pou5f1	G	A	17: 35,820,899 (GRCm39)	V114M	probably benign	Het
Pramel28	A	T	4: 143,692,390 (GRCm39)	Y204N	probably benign	Het
Prpf4b	C	A	13: 35,068,214 (GRCm39)		probably benign	Het
Prr23a1	C	T	9: 98,724,709 (GRCm39)	P24S	probably damaging	Het
Ptch1	T	A	13: 63,693,059 (GRCm39)	M65L	probably benign	Het
Rc3h2	A	T	2: 37,289,636 (GRCm39)	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195 (GRCm39)	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,287,285 (GRCm39)	D68G	probably damaging	Het
Ryr1	G	T	7: 28,789,575 (GRCm39)	T1513K	probably damaging	Het
Sacs	A	G	14: 61,410,890 (GRCm39)	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,398,527 (GRCm39)	S28P	probably benign	Het
Scrn3	A	G	2: 73,160,196 (GRCm39)	M280V	probably damaging	Het
Snx29	C	T	16: 11,328,898 (GRCm39)	T559I	possibly damaging	Het
Spn	C	T	7: 126,735,413 (GRCm39)	E109K	probably damaging	Het
Sra1	C	T	18: 36,808,121 (GRCm39)	R369H	probably benign	Het
Srsf11	C	T	3: 157,724,982 (GRCm39)	A64T	probably damaging	Het
Stk17b	A	G	1: 53,815,764 (GRCm39)	S12P	probably benign	Het
Sult1d1	C	A	5: 87,707,661 (GRCm39)	G153V	probably damaging	Het
Sycp2	A	T	2: 177,991,931 (GRCm39)		probably null	Het
Tgfb3	T	C	12: 86,116,543 (GRCm39)	E165G	possibly damaging	Het
Tns2	C	A	15: 102,015,941 (GRCm39)	H160N	probably benign	Het
Ubn1	T	A	16: 4,895,088 (GRCm39)	C711*	probably null	Het
Vmn1r231	A	T	17: 21,110,380 (GRCm39)	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,857,250 (GRCm39)	S183P	probably damaging	Het
Xpo7	A	G	14: 70,928,431 (GRCm39)	I424T	probably benign	Het
Zfp109	A	G	7: 23,936,041 (GRCm39)		probably null	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
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
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'- TAAATCCCACTGTCTTAGTCTGGTC -3'
(R):5'- AAGGTGCAACCCAAACAGTG -3'

Sequencing Primer
(F):5'- TGGTCTACTCTGATAATGCTCAG -3'
(R):5'- AGTGACTGAGCACCTCATCTCTG -3'

Posted On

2014-09-18