Mutagenetix > Incidental Mutation

Incidental Mutation 'R7534:Ufsp2'

583453

Institutional Source

Beutler Lab

Gene Symbol

Ufsp2

Ensembl Gene

ENSMUSG00000031634

Gene Name

UFM1-specific peptidase 2

Synonyms

1810047C23Rik

MMRRC Submission

045606-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7534 (G1)

Quality Score

192.009

Status

Validated

Chromosome

Chromosomal Location

46428565-46449995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46433361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 25 (I25N)

Ref Sequence

ENSEMBL: ENSMUSP00000034051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034051] [ENSMUST00000123307] [ENSMUST00000130412] [ENSMUST00000150943] [ENSMUST00000209443] [ENSMUST00000210081]

AlphaFold

Q99K23

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034051
AA Change: I25N

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634
AA Change: I25N

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 damaging
Transcript: ENSMUST00000123307
AA Change: I25N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000130412
AA Change: I25N

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000150943
AA Change: I25N

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

unknown
Transcript: ENSMUST00000209443
AA Change: I25N

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210081
AA Change: I25N

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	A	C	17: 35,390,390 (GRCm39)	M120R	possibly damaging	Het
Ank2	T	C	3: 126,727,982 (GRCm39)		probably null	Het
Ankrd11	A	T	8: 123,621,149 (GRCm39)	I901N	probably damaging	Het
Apc	T	C	18: 34,450,015 (GRCm39)	S2304P	probably damaging	Het
AW551984	A	T	9: 39,502,777 (GRCm39)	C632S	probably benign	Het
Bicra	T	C	7: 15,705,860 (GRCm39)	N1527S	probably damaging	Het
Cacna1d	A	G	14: 29,801,319 (GRCm39)	L1363P	probably damaging	Het
Cacna1g	G	A	11: 94,301,904 (GRCm39)	P2037S	probably benign	Het
Cdc27	A	G	11: 104,399,240 (GRCm39)	L724S	probably damaging	Het
Cttnbp2	C	T	6: 18,420,764 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,421,580 (GRCm39)	A280V	probably benign	Het
Dclk3	G	A	9: 111,297,286 (GRCm39)	G277R	probably benign	Het
Ddr1	A	G	17: 35,993,514 (GRCm39)		probably null	Het
Dnah7c	A	C	1: 46,809,227 (GRCm39)	D3515A	probably damaging	Het
Elovl4	G	A	9: 83,672,172 (GRCm39)	T49M	probably damaging	Het
Fam13b	A	T	18: 34,631,060 (GRCm39)	F40I	probably damaging	Het
Fancd2os	T	C	6: 113,574,601 (GRCm39)	H135R	probably benign	Het
Fer1l6	A	G	15: 58,509,875 (GRCm39)	I1446V	probably damaging	Het
Fyb2	T	A	4: 104,856,545 (GRCm39)	Y584*	probably null	Het
Galnt16	A	T	12: 80,643,909 (GRCm39)	L442F	probably damaging	Het
Garem1	T	A	18: 21,432,973 (GRCm39)		probably benign	Het
Ggta1	C	T	2: 35,292,440 (GRCm39)	R289Q	probably damaging	Het
Gm11564	T	C	11: 99,706,347 (GRCm39)	T28A	unknown	Het
Hcn1	A	G	13: 118,111,961 (GRCm39)	T642A	unknown	Het
Hhat	A	T	1: 192,408,612 (GRCm39)	L173H	probably damaging	Het
Hook1	T	G	4: 95,905,834 (GRCm39)	I585S	probably benign	Het
Ighg1	A	T	12: 113,293,349 (GRCm39)	S114T		Het
Kmt2d	G	A	15: 98,749,899 (GRCm39)	P2598L	unknown	Het
Macc1	A	T	12: 119,411,254 (GRCm39)	H674L	probably benign	Het
Mypn	T	C	10: 63,028,910 (GRCm39)	E51G	probably benign	Het
Or2n1	T	A	17: 38,486,188 (GRCm39)	M71K	probably benign	Het
Or7e170	A	G	9: 19,795,472 (GRCm39)	V43A	probably benign	Het
Or9g3	A	C	2: 85,589,803 (GRCm39)	L306V	probably benign	Het
Pnliprp2	T	A	19: 58,763,574 (GRCm39)	S408T	probably benign	Het
Ppara	A	C	15: 85,661,927 (GRCm39)	Y56S	probably benign	Het
Ppp1r1a	A	G	15: 103,440,816 (GRCm39)	C114R	probably benign	Het
Pycard	C	T	7: 127,592,657 (GRCm39)	V57I	probably damaging	Het
Relch	G	A	1: 105,668,748 (GRCm39)	R993Q	probably benign	Het
Rin3	T	G	12: 102,317,200 (GRCm39)	Y143D	unknown	Het
Slc12a7	A	G	13: 73,912,187 (GRCm39)		probably benign	Het
Slitrk3	C	T	3: 72,957,440 (GRCm39)	R444H	probably damaging	Het
Ttf2	C	T	3: 100,857,728 (GRCm39)		probably null	Het
Uqcrc2	A	G	7: 120,240,912 (GRCm39)	T115A	possibly damaging	Het
Vmn2r43	T	A	7: 8,258,230 (GRCm39)	R328*	probably null	Het
Vmn2r8	T	A	5: 108,950,040 (GRCm39)	Y269F	possibly damaging	Het
Zbtb5	T	C	4: 44,995,030 (GRCm39)	Y118C	probably damaging	Het
Zeb1	T	C	18: 5,766,611 (GRCm39)	V374A	probably damaging	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
R4319:Ufsp2	UTSW	8	46,448,664 (GRCm39)	missense	possibly damaging	0.95
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
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'- TGTTAGAGCCACAGATGATGG -3'
(R):5'- TGAATGAAGCGCACTACGTTC -3'

Sequencing Primer
(F):5'- GCATGGAATTTATGGTCTCAGAACCC -3'
(R):5'- TACGTTCTTACAGGCAGAGC -3'

Posted On

2019-10-17