Mutagenetix > Incidental Mutation

Incidental Mutation 'R4319:Ufsp2'

324134

Institutional Source

Beutler Lab

Gene Symbol

Ufsp2

Ensembl Gene

ENSMUSG00000031634

Gene Name

UFM1-specific peptidase 2

Synonyms

1810047C23Rik

MMRRC Submission

041660-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46428565-46449995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46448664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 422 (T422A)

Ref Sequence

ENSEMBL: ENSMUSP00000034051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034051] [ENSMUST00000053558] [ENSMUST00000066451] [ENSMUST00000110380] [ENSMUST00000130412] [ENSMUST00000210081] [ENSMUST00000209443] [ENSMUST00000153674]

AlphaFold

Q99K23

PDB Structure

Ubiquitin-fold modifier 1 Specific Protease, UfSP2 [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034051
AA Change: T422A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634
AA Change: T422A

Domain	Start	End	E-Value	Type
low complexity region	87	103	N/A	INTRINSIC
Pfam:Peptidase_C78	268	453	1.3e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053558

SMART Domains

Protein: ENSMUSP00000056828
Gene: ENSMUSG00000050914

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
ANK	63	92	7.71e-2	SMART
ANK	96	125	7.29e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066451

SMART Domains

Protein: ENSMUSP00000067177
Gene: ENSMUSG00000031637

Domain	Start	End	E-Value	Type
low complexity region	42	53	N/A	INTRINSIC
SEL1	110	145	4.45e-3	SMART
SEL1	153	188	5.07e-7	SMART
SEL1	193	226	6.3e-3	SMART
SEL1	227	262	3.9e-8	SMART
Blast:SEL1	263	293	1e-5	BLAST
SEL1	317	352	7.57e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110380

SMART Domains

Protein: ENSMUSP00000106009
Gene: ENSMUSG00000031637

Domain	Start	End	E-Value	Type
low complexity region	21	32	N/A	INTRINSIC
SEL1	89	124	4.45e-3	SMART
SEL1	132	167	5.07e-7	SMART
SEL1	172	205	6.3e-3	SMART
SEL1	206	241	3.9e-8	SMART
Blast:SEL1	242	272	1e-5	BLAST
SEL1	296	331	7.57e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210971

Predicted Effect

probably benign
Transcript: ENSMUST00000210081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210608

Predicted Effect

probably benign
Transcript: ENSMUST00000209443

Predicted Effect

probably benign
Transcript: ENSMUST00000153674

Meta Mutation Damage Score

0.1431

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

94% (31/33)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn7l2	A	T	3: 108,113,148 (GRCm39)	D218E	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Cacna1c	A	C	6: 118,631,330 (GRCm39)	I1148S	probably damaging	Het
Ccdc178	T	A	18: 22,166,600 (GRCm39)	K530*	probably null	Het
Ccdc191	A	G	16: 43,767,872 (GRCm39)	E624G	probably damaging	Het
Cep290	A	C	10: 100,374,909 (GRCm39)	H1385P	probably benign	Het
Chrd	A	G	16: 20,555,798 (GRCm39)	H545R	probably damaging	Het
Dgkb	A	G	12: 38,488,598 (GRCm39)	I655V	probably damaging	Het
Gm2663	G	T	6: 40,974,530 (GRCm39)	Q87K	probably damaging	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kif11	T	C	19: 37,373,033 (GRCm39)	V84A	probably damaging	Het
Klf2	A	G	8: 73,074,005 (GRCm39)	T270A	probably benign	Het
Lemd2	A	G	17: 27,420,651 (GRCm39)	M254T	possibly damaging	Het
Luc7l	A	T	17: 26,496,593 (GRCm39)		probably benign	Het
Mapk11	T	C	15: 89,030,946 (GRCm39)	E71G	probably damaging	Het
Mcoln2	G	A	3: 145,855,766 (GRCm39)		probably null	Het
Or2y1f	G	A	11: 49,184,503 (GRCm39)	M118I	probably damaging	Het
Pira13	A	G	7: 3,825,754 (GRCm39)	S372P	possibly damaging	Het
Pygb	G	T	2: 150,657,534 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sox6	A	G	7: 115,179,798 (GRCm39)		probably null	Het
Spty2d1	T	C	7: 46,647,883 (GRCm39)	S349G	probably damaging	Het
Srbd1	A	T	17: 86,358,578 (GRCm39)	V657D	probably damaging	Het
Tspo2	G	T	17: 48,756,871 (GRCm39)		probably benign	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Wdr46	A	G	17: 34,159,718 (GRCm39)	T3A	probably benign	Het

Other mutations in Ufsp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02092:Ufsp2	APN	8	46,448,701 (GRCm39)	critical splice donor site	probably null
IGL02122:Ufsp2	APN	8	46,448,685 (GRCm39)	missense	probably benign	0.01
IGL02523:Ufsp2	APN	8	46,436,585 (GRCm39)	missense	probably damaging	1.00
IGL03031:Ufsp2	APN	8	46,437,137 (GRCm39)	missense	probably damaging	1.00
R0317:Ufsp2	UTSW	8	46,445,270 (GRCm39)	critical splice donor site	probably null
R0523:Ufsp2	UTSW	8	46,449,780 (GRCm39)	missense	probably benign	0.00
R0538:Ufsp2	UTSW	8	46,445,187 (GRCm39)	missense	probably damaging	1.00
R0661:Ufsp2	UTSW	8	46,432,270 (GRCm39)	start codon destroyed	probably null	1.00
R3927:Ufsp2	UTSW	8	46,436,723 (GRCm39)	splice site	probably null
R4355:Ufsp2	UTSW	8	46,438,502 (GRCm39)	missense	possibly damaging	0.95
R5183:Ufsp2	UTSW	8	46,447,126 (GRCm39)	missense	probably benign	0.18
R5473:Ufsp2	UTSW	8	46,445,258 (GRCm39)	missense	probably damaging	1.00
R6726:Ufsp2	UTSW	8	46,438,504 (GRCm39)	missense	probably benign	0.05
R7133:Ufsp2	UTSW	8	46,436,661 (GRCm39)	missense	probably benign	0.00
R7534:Ufsp2	UTSW	8	46,433,361 (GRCm39)	missense	probably benign	0.34
R8717:Ufsp2	UTSW	8	46,436,614 (GRCm39)	missense	probably benign	0.00
R9122:Ufsp2	UTSW	8	46,438,441 (GRCm39)	missense	probably benign	0.01
R9135:Ufsp2	UTSW	8	46,447,050 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGCCTTTCTCAGTTGATTTAAAG -3'
(R):5'- AGGGCCAGGATTACTCAACAG -3'

Sequencing Primer
(F):5'- TGCTATCATGGTCTTTTACA -3'
(R):5'- GACTTAGAACAACTGCTGTCAGGTC -3'

Posted On

2015-06-24