Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01559:Usp17lb'

90790

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp17lb

Ensembl Gene

ENSMUSG00000062369

Gene Name

ubiquitin specific peptidase 17-like B

Synonyms

Dub1a

Accession Numbers

Essential gene?

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

Stock #

IGL01559

Quality Score

Status

Chromosome

Chromosomal Location

104489464-104491790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104490436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 164 (S164P)

Ref Sequence

ENSEMBL: ENSMUSP00000075822 (fasta)

Gene Model

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

AlphaFold

E9Q9U0

Predicted Effect

probably damaging
Transcript: ENSMUST00000076501
AA Change: S164P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075822
Gene: ENSMUSG00000062369
AA Change: S164P

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 benign
Transcript: ENSMUST00000106814
AA Change: S163P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000102427
Gene: ENSMUSG00000062369
AA Change: S163P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,259,020 (GRCm39)	N2915K	possibly damaging	Het
Abca5	T	C	11: 110,163,352 (GRCm39)	N1621S	probably benign	Het
Asb18	G	A	1: 89,882,172 (GRCm39)	S122F	probably damaging	Het
Atg4c	A	G	4: 99,106,440 (GRCm39)		probably benign	Het
Bbs7	T	C	3: 36,648,659 (GRCm39)	Y363C	probably damaging	Het
Celsr2	T	C	3: 108,314,183 (GRCm39)	T1281A	possibly damaging	Het
Cers1	A	G	8: 70,775,883 (GRCm39)	N295S	probably damaging	Het
Csn1s2b	A	T	5: 87,968,810 (GRCm39)	K80*	probably null	Het
Dennd6a	A	G	14: 26,329,720 (GRCm39)	D97G	probably damaging	Het
Dmxl1	A	G	18: 50,054,005 (GRCm39)	Y2537C	probably damaging	Het
Dnah6	A	G	6: 73,001,235 (GRCm39)		probably null	Het
Exoc4	A	G	6: 33,243,011 (GRCm39)	T75A	probably damaging	Het
Fbll1	T	C	11: 35,688,372 (GRCm39)	E297G	probably damaging	Het
Gm10642	T	A	9: 70,563,874 (GRCm39)	D152V	probably damaging	Het
Hdac3	A	G	18: 38,076,725 (GRCm39)		probably benign	Het
Kif17	A	G	4: 138,021,080 (GRCm39)	I850V	probably damaging	Het
Or2l13	T	C	16: 19,306,209 (GRCm39)	L207P	probably benign	Het
Pi4kb	T	A	3: 94,891,440 (GRCm39)	L52Q	probably benign	Het
Sec14l1	C	A	11: 117,034,110 (GRCm39)		probably null	Het
Slc28a2	T	A	2: 122,285,021 (GRCm39)	H336Q	probably damaging	Het

Other mutations in Usp17lb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6279:Usp17lb	UTSW	7	104,489,898 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-12-09