Mutagenetix > Incidental Mutation

Incidental Mutation 'R6279:Usp17lb'

507829

Institutional Source

Beutler Lab

Gene Symbol

Usp17lb

Ensembl Gene

ENSMUSG00000062369

Gene Name

ubiquitin specific peptidase 17-like B

Synonyms

Dub1a

MMRRC Submission

044449-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R6279 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104489464-104491790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104489898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 342 (L342P)

Ref Sequence

ENSEMBL: ENSMUSP00000102427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076501] [ENSMUST00000106814]

AlphaFold

E9Q9U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000076501
AA Change: L343P

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

SMART Domains

Protein: ENSMUSP00000075822
Gene: ENSMUSG00000062369
AA Change: L343P

Domain	Start	End	E-Value	Type
Pfam:UCH	50	345	3.2e-55	PFAM
Pfam:UCH_1	51	327	6.8e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106814
AA Change: L342P

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

SMART Domains

Protein: ENSMUSP00000102427
Gene: ENSMUSG00000062369
AA Change: L342P

Domain	Start	End	E-Value	Type
Pfam:UCH	49	344	2.3e-61	PFAM
Pfam:UCH_1	50	326	1.5e-30	PFAM

Meta Mutation Damage Score

0.9049

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Arid1b	C	A	17: 5,392,274 (GRCm39)	L1935M	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Cyp2d22	C	A	15: 82,258,169 (GRCm39)	K150N	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Faap24	A	C	7: 35,095,709 (GRCm39)	V12G	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Ggta1	A	G	2: 35,298,006 (GRCm39)	Y148H	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il12a	A	T	3: 68,605,312 (GRCm39)	I193F	probably damaging	Het
Il2rb	T	C	15: 78,365,738 (GRCm39)	N520D	possibly damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Lrba	A	G	3: 86,256,171 (GRCm39)	D1171G	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Msh6	T	C	17: 88,287,677 (GRCm39)	W106R	probably damaging	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or10w3	A	G	19: 13,704,029 (GRCm39)	I135V	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or4c105	A	T	2: 88,647,719 (GRCm39)	D68V	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pde10a	T	C	17: 9,197,789 (GRCm39)	I1026T	probably damaging	Het
Pde4dip	A	C	3: 97,606,496 (GRCm39)	L2126R	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pkmyt1	C	T	17: 23,951,476 (GRCm39)	P10L	probably benign	Het
Pphln1-ps1	T	C	16: 13,495,134 (GRCm39)	S78P	probably damaging	Het
Prr5l	A	T	2: 101,547,765 (GRCm39)	Y253*	probably null	Het
Rdh9	A	G	10: 127,612,627 (GRCm39)	T92A	probably benign	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr1	A	T	7: 28,786,853 (GRCm39)	M1587K	possibly damaging	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Sh3d19	A	T	3: 86,011,409 (GRCm39)	I332F	possibly damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Slk	A	G	19: 47,630,443 (GRCm39)	T1205A	probably damaging	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Tnpo1	G	A	13: 99,027,216 (GRCm39)	P25L	possibly damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Tshz1	A	T	18: 84,033,436 (GRCm39)	V324D	probably damaging	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	probably damaging	Het

Other mutations in Usp17lb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01559:Usp17lb	APN	7	104,490,436 (GRCm39)	missense	probably damaging	0.98
IGL01571:Usp17lb	APN	7	104,489,588 (GRCm39)	missense	possibly damaging	0.59
IGL01624:Usp17lb	APN	7	104,491,720 (GRCm39)	utr 5 prime	probably benign
IGL02582:Usp17lb	APN	7	104,489,937 (GRCm39)	missense	probably damaging	1.00
IGL03193:Usp17lb	APN	7	104,490,484 (GRCm39)	missense	possibly damaging	0.46
R0399:Usp17lb	UTSW	7	104,490,358 (GRCm39)	missense	possibly damaging	0.81
R0420:Usp17lb	UTSW	7	104,489,746 (GRCm39)	missense	probably benign
R1202:Usp17lb	UTSW	7	104,491,695 (GRCm39)	missense	probably damaging	0.98
R1628:Usp17lb	UTSW	7	104,490,048 (GRCm39)	missense	probably damaging	1.00
R2085:Usp17lb	UTSW	7	104,489,622 (GRCm39)	missense	possibly damaging	0.73
R2214:Usp17lb	UTSW	7	104,490,639 (GRCm39)	missense	probably benign	0.36
R2283:Usp17lb	UTSW	7	104,489,859 (GRCm39)	missense	possibly damaging	0.68
R2866:Usp17lb	UTSW	7	104,489,955 (GRCm39)	missense	probably damaging	1.00
R3433:Usp17lb	UTSW	7	104,490,855 (GRCm39)	missense	possibly damaging	0.89
R5004:Usp17lb	UTSW	7	104,490,884 (GRCm39)	missense	probably benign	0.00
R5090:Usp17lb	UTSW	7	104,490,290 (GRCm39)	missense	probably benign	0.06
R5143:Usp17lb	UTSW	7	104,490,685 (GRCm39)	missense	probably damaging	1.00
R5366:Usp17lb	UTSW	7	104,489,615 (GRCm39)	missense	possibly damaging	0.95
R5568:Usp17lb	UTSW	7	104,490,415 (GRCm39)	missense	probably damaging	1.00
R5605:Usp17lb	UTSW	7	104,489,847 (GRCm39)	missense	probably benign	0.00
R5647:Usp17lb	UTSW	7	104,489,881 (GRCm39)	missense	possibly damaging	0.92
R5981:Usp17lb	UTSW	7	104,490,394 (GRCm39)	missense	probably damaging	1.00
R5999:Usp17lb	UTSW	7	104,489,552 (GRCm39)	missense	probably damaging	0.99
R6114:Usp17lb	UTSW	7	104,489,571 (GRCm39)	missense	possibly damaging	0.87
R6185:Usp17lb	UTSW	7	104,490,631 (GRCm39)	missense	probably benign	0.22
R6300:Usp17lb	UTSW	7	104,489,898 (GRCm39)	missense	probably damaging	1.00
R6891:Usp17lb	UTSW	7	104,490,307 (GRCm39)	missense	probably benign	0.02
R7000:Usp17lb	UTSW	7	104,490,492 (GRCm39)	missense	probably damaging	1.00
R7137:Usp17lb	UTSW	7	104,490,798 (GRCm39)	missense	probably benign	0.15
R7318:Usp17lb	UTSW	7	104,490,340 (GRCm39)	missense	probably benign	0.03
R7372:Usp17lb	UTSW	7	104,490,913 (GRCm39)	splice site	probably null
R7809:Usp17lb	UTSW	7	104,490,420 (GRCm39)	missense	probably damaging	1.00
R7834:Usp17lb	UTSW	7	104,490,718 (GRCm39)	missense	probably damaging	1.00
R8008:Usp17lb	UTSW	7	104,490,481 (GRCm39)	missense	possibly damaging	0.82
R8283:Usp17lb	UTSW	7	104,490,013 (GRCm39)	missense	probably damaging	0.98
R8385:Usp17lb	UTSW	7	104,489,830 (GRCm39)	missense	possibly damaging	0.82
R8942:Usp17lb	UTSW	7	104,490,583 (GRCm39)	missense	possibly damaging	0.49
R8996:Usp17lb	UTSW	7	104,490,889 (GRCm39)	missense	probably benign	0.17
R9598:Usp17lb	UTSW	7	104,489,718 (GRCm39)	missense	probably benign	0.07
R9697:Usp17lb	UTSW	7	104,490,495 (GRCm39)	missense	possibly damaging	0.69
X0021:Usp17lb	UTSW	7	104,490,523 (GRCm39)	missense	probably damaging	1.00
Z1088:Usp17lb	UTSW	7	104,490,336 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCCCCTAAGGAGGTTTCTTTGG -3'
(R):5'- ACCTGAAGCCATACCTGTCC -3'

Sequencing Primer
(F):5'- CCCTAAGGAGGTTTCTTTGGATGATC -3'
(R):5'- GCCTACTGGAGGGCCTTTG -3'

Posted On

2018-03-15