Mutagenetix > Incidental Mutation

Incidental Mutation 'R5183:Ufsp2'

470573

Institutional Source

Beutler Lab

Gene Symbol

Ufsp2

Ensembl Gene

ENSMUSG00000031634

Gene Name

UFM1-specific peptidase 2

Synonyms

1810047C23Rik

MMRRC Submission

042762-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5183 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46428565-46449995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46447126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 391 (V391A)

Ref Sequence

ENSEMBL: ENSMUSP00000034051 (fasta)

Gene Model

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

AlphaFold

Q99K23

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034051
AA Change: V391A

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634
AA Change: V391A

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: ENSMUST00000130412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210971

Predicted Effect

probably benign
Transcript: ENSMUST00000210081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210608

Predicted Effect

probably benign
Transcript: ENSMUST00000153674

Predicted Effect

probably benign
Transcript: ENSMUST00000209443

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (73/74)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,887,171 (GRCm39)	D8E	probably damaging	Het
Abca3	T	G	17: 24,593,427 (GRCm39)	S275A	probably benign	Het
Adk	A	G	14: 21,290,599 (GRCm39)	N155S	probably damaging	Het
Aqp11	T	C	7: 97,386,963 (GRCm39)	T78A	probably benign	Het
Arhgef40	T	C	14: 52,241,556 (GRCm39)	V1455A	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Cdan1	T	A	2: 120,560,061 (GRCm39)	I368F	probably damaging	Het
Cdc42bpg	A	G	19: 6,371,835 (GRCm39)		probably benign	Het
Celsr3	A	G	9: 108,714,759 (GRCm39)	D2013G	probably damaging	Het
Cep152	A	G	2: 125,408,558 (GRCm39)	V1332A	probably damaging	Het
Cftr	T	C	6: 18,299,832 (GRCm39)	S1172P	probably damaging	Het
Commd2	A	T	3: 57,554,235 (GRCm39)	D155E	probably benign	Het
Coq7	T	A	7: 118,127,490 (GRCm39)		probably benign	Het
Dnase2a	T	C	8: 85,636,207 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dock6	C	T	9: 21,752,899 (GRCm39)	V305I	probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Fasn	T	C	11: 120,699,708 (GRCm39)	Q2288R	probably benign	Het
Fat3	T	A	9: 15,871,609 (GRCm39)	N3594I	probably damaging	Het
Galnt10	T	C	11: 57,660,414 (GRCm39)	M284T	probably damaging	Het
Gatm	A	T	2: 122,425,984 (GRCm39)	F422L	probably benign	Het
Glrp1	A	T	1: 88,437,574 (GRCm39)	I12N	unknown	Het
Gm5455	T	A	13: 110,441,962 (GRCm39)		noncoding transcript	Het
Gpam	C	T	19: 55,071,659 (GRCm39)	E361K	probably damaging	Het
Gps2	A	G	11: 69,806,023 (GRCm39)	T126A	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsg1	T	A	6: 135,218,368 (GRCm39)	Q176L	probably damaging	Het
Htra1	C	T	7: 130,585,446 (GRCm39)	A412V	possibly damaging	Het
Icosl	C	T	10: 77,905,319 (GRCm39)		probably benign	Het
Iqgap1	T	C	7: 80,372,813 (GRCm39)	T1509A	probably damaging	Het
Irag2	A	G	6: 145,083,946 (GRCm39)	E37G	probably benign	Het
Itgad	T	C	7: 127,797,395 (GRCm39)		probably null	Het
Kdm5a	C	A	6: 120,406,977 (GRCm39)		probably benign	Het
Kidins220	T	C	12: 25,101,125 (GRCm39)	L1017S	probably benign	Het
Lrrc37	T	C	11: 103,433,947 (GRCm39)	Y898C	probably damaging	Het
Man2b1	T	A	8: 85,822,413 (GRCm39)	S804R	probably damaging	Het
Miip	A	T	4: 147,947,526 (GRCm39)	F211L	probably damaging	Het
Moxd1	T	G	10: 24,155,445 (GRCm39)		probably null	Het
Moxd1	T	G	10: 24,163,034 (GRCm39)	Y499D	probably damaging	Het
Mrpl45	T	C	11: 97,207,577 (GRCm39)	I24T	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Mthfr	T	A	4: 148,135,817 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,404,547 (GRCm39)	D827E	unknown	Het
Myo1g	G	C	11: 6,458,243 (GRCm39)	L866V	probably damaging	Het
Myo3a	A	T	2: 22,468,170 (GRCm39)	M475L	probably benign	Het
Ncoa2	A	C	1: 13,244,590 (GRCm39)	L703V	probably damaging	Het
Ncoa4-ps	A	C	12: 119,225,023 (GRCm39)		noncoding transcript	Het
Nme6	T	A	9: 109,670,557 (GRCm39)	Y69*	probably null	Het
Nwd1	T	A	8: 73,397,714 (GRCm39)	M651K	probably benign	Het
Or4k15c	A	C	14: 50,322,003 (GRCm39)	I45S	probably damaging	Het
Orc2	A	T	1: 58,513,977 (GRCm39)	S298R	possibly damaging	Het
Oscp1	A	T	4: 125,981,522 (GRCm39)	E328V	probably damaging	Het
Pan2	T	C	10: 128,153,838 (GRCm39)	V1003A	probably damaging	Het
Pik3r4	T	C	9: 105,559,507 (GRCm39)	V1200A	possibly damaging	Het
Prl	T	C	13: 27,241,579 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,351,232 (GRCm39)	V575A	probably benign	Het
Rflna	A	T	5: 125,088,469 (GRCm39)	S139C	probably damaging	Het
Robo1	T	C	16: 72,539,038 (GRCm39)	F27S	probably benign	Het
Secisbp2	T	C	13: 51,819,460 (GRCm39)	S347P	probably benign	Het
Shmt1	A	G	11: 60,688,308 (GRCm39)		probably benign	Het
Slc27a3	A	G	3: 90,296,477 (GRCm39)		probably null	Het
Slc6a5	T	C	7: 49,585,957 (GRCm39)	V425A	probably damaging	Het
Slc8a3	A	G	12: 81,361,265 (GRCm39)	V518A	possibly damaging	Het
Slco1a4	A	T	6: 141,785,357 (GRCm39)	Y78N	probably damaging	Het
Stt3b	A	T	9: 115,095,211 (GRCm39)	H273Q	probably damaging	Het
Tle6	T	A	10: 81,428,635 (GRCm39)	N431I	probably damaging	Het
Trim34b	C	A	7: 103,979,118 (GRCm39)	Q122K	possibly damaging	Het
Trio	C	A	15: 27,902,686 (GRCm39)	R258S	probably benign	Het
Ttc7	A	T	17: 87,600,306 (GRCm39)	D23V	probably damaging	Het
Ttn	A	T	2: 76,810,525 (GRCm39)	M1K	probably null	Het
Vps13c	T	C	9: 67,815,334 (GRCm39)	L990S	probably damaging	Het
Zfp108	G	T	7: 23,960,163 (GRCm39)	K251N	probably benign	Het
Zfp618	G	A	4: 63,017,519 (GRCm39)	M234I	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
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
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'- GATACAGTGAATCAGGTCCCTAC -3'
(R):5'- GCTACCCTTTGGAAACTAAAATCC -3'

Sequencing Primer
(F):5'- TTCAAGATCCACAAACAAAAAGAGTG -3'
(R):5'- TGATGCACTTCCTGTAGAGACCAG -3'

Posted On

2017-03-14