Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02086:Ufsp1'

285466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ufsp1

Ensembl Gene

ENSMUSG00000051502

Gene Name

UFM1-specific peptidase 1

Synonyms

2700038N03Rik, D5Ertd655e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.833) question?

Stock #

IGL02086

Quality Score

Status

Chromosome

Chromosomal Location

137292931-137293926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137293178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 43 (C43S)

Ref Sequence

ENSEMBL: ENSMUSP00000056156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024099] [ENSMUST00000040873] [ENSMUST00000052825] [ENSMUST00000085934] [ENSMUST00000125195] [ENSMUST00000132191] [ENSMUST00000137126] [ENSMUST00000196109] [ENSMUST00000196208] [ENSMUST00000138591] [ENSMUST00000141123] [ENSMUST00000197466] [ENSMUST00000199243] [ENSMUST00000198526]

AlphaFold

Q9CZP0

PDB Structure

Insights from crystal and solution structures of mouse UfSP1 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000024099

SMART Domains

Protein: ENSMUSP00000024099
Gene: ENSMUSG00000023328

Domain	Start	End	E-Value	Type
Pfam:COesterase	14	563	2e-186	PFAM
Pfam:Abhydrolase_3	146	276	7.5e-9	PFAM
Pfam:AChE_tetra	578	614	3.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040873

SMART Domains

Protein: ENSMUSP00000043123
Gene: ENSMUSG00000037364

Domain	Start	End	E-Value	Type
low complexity region	3	65	N/A	INTRINSIC
low complexity region	95	116	N/A	INTRINSIC
Pfam:DUF3546	153	262	3.8e-44	PFAM
low complexity region	269	276	N/A	INTRINSIC
low complexity region	326	350	N/A	INTRINSIC
coiled coil region	367	402	N/A	INTRINSIC
Blast:RRM	421	491	2e-31	BLAST
low complexity region	566	595	N/A	INTRINSIC
low complexity region	603	615	N/A	INTRINSIC
Pfam:ARS2	645	850	9.7e-94	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000052825
AA Change: C43S

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

SMART Domains

Protein: ENSMUSP00000056156
Gene: ENSMUSG00000051502
AA Change: C43S

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C78	27	212	5.4e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000085934

SMART Domains

Protein: ENSMUSP00000083097
Gene: ENSMUSG00000023328

Domain	Start	End	E-Value	Type
Pfam:COesterase	15	563	3e-178	PFAM
Pfam:Abhydrolase_3	146	260	1.4e-7	PFAM
Pfam:AChE_tetra	578	613	3.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125195

Predicted Effect

probably benign
Transcript: ENSMUST00000132191

Predicted Effect

probably benign
Transcript: ENSMUST00000137126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197144

Predicted Effect

probably benign
Transcript: ENSMUST00000196109

SMART Domains

Protein: ENSMUSP00000142351
Gene: ENSMUSG00000037364

Domain	Start	End	E-Value	Type
coiled coil region	11	46	N/A	INTRINSIC
Blast:RRM	65	133	2e-15	BLAST
low complexity region	208	237	N/A	INTRINSIC
low complexity region	245	257	N/A	INTRINSIC
Pfam:ARS2	277	498	6.5e-111	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196208

SMART Domains

Protein: ENSMUSP00000142427
Gene: ENSMUSG00000023328

Domain	Start	End	E-Value	Type
Pfam:COesterase	14	359	6.5e-134	PFAM
Pfam:Abhydrolase_3	146	284	4.1e-7	PFAM
Pfam:COesterase	355	475	1.5e-25	PFAM
Pfam:AChE_tetra	490	526	2.2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138591

Predicted Effect

probably benign
Transcript: ENSMUST00000141123

Predicted Effect

probably benign
Transcript: ENSMUST00000197466

SMART Domains

Protein: ENSMUSP00000142564
Gene: ENSMUSG00000037364

Domain	Start	End	E-Value	Type
low complexity region	3	65	N/A	INTRINSIC
low complexity region	95	116	N/A	INTRINSIC
Pfam:DUF3546	151	264	9.5e-48	PFAM
low complexity region	269	276	N/A	INTRINSIC
low complexity region	326	350	N/A	INTRINSIC
coiled coil region	367	402	N/A	INTRINSIC
Blast:RRM	421	491	2e-31	BLAST
low complexity region	566	595	N/A	INTRINSIC
low complexity region	603	615	N/A	INTRINSIC
Pfam:ARS2	635	845	5.5e-113	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199473

Predicted Effect

probably benign
Transcript: ENSMUST00000199243

SMART Domains

Protein: ENSMUSP00000143232
Gene: ENSMUSG00000037364

Domain	Start	End	E-Value	Type
low complexity region	3	65	N/A	INTRINSIC
low complexity region	95	116	N/A	INTRINSIC
Pfam:DUF3546	151	264	9.5e-48	PFAM
low complexity region	269	276	N/A	INTRINSIC
low complexity region	326	350	N/A	INTRINSIC
coiled coil region	367	402	N/A	INTRINSIC
Blast:RRM	421	491	2e-31	BLAST
low complexity region	566	595	N/A	INTRINSIC
low complexity region	603	615	N/A	INTRINSIC
Pfam:ARS2	635	849	9.8e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199756

Predicted Effect

probably benign
Transcript: ENSMUST00000198526

SMART Domains

Protein: ENSMUSP00000142435
Gene: ENSMUSG00000037364

Domain	Start	End	E-Value	Type
low complexity region	3	65	N/A	INTRINSIC
low complexity region	95	116	N/A	INTRINSIC
Pfam:DUF3546	151	264	2e-45	PFAM
low complexity region	269	276	N/A	INTRINSIC
low complexity region	322	347	N/A	INTRINSIC
low complexity region	369	408	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199605

Predicted Effect

probably benign
Transcript: ENSMUST00000199365

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930426L09Rik	T	C	2: 19,003,623 (GRCm39)		probably benign	Het
Abi3bp	A	G	16: 56,462,930 (GRCm39)		probably benign	Het
Asb4	T	C	6: 5,398,386 (GRCm39)	I117T	probably benign	Het
Birc6	T	G	17: 74,946,822 (GRCm39)	L2847R	probably damaging	Het
C2cd2	A	G	16: 97,691,208 (GRCm39)		probably benign	Het
Ccdc77	C	A	6: 120,316,119 (GRCm39)	C186F	possibly damaging	Het
Cd300ld2	T	A	11: 114,903,384 (GRCm39)		probably benign	Het
Cd55b	A	T	1: 130,345,919 (GRCm39)	D166E	probably benign	Het
Cfap100	A	G	6: 90,390,954 (GRCm39)	F8L	probably damaging	Het
Col2a1	C	T	15: 97,884,618 (GRCm39)		probably null	Het
Dbf4	A	G	5: 8,453,189 (GRCm39)	I270T	probably benign	Het
Dkk3	T	C	7: 111,748,236 (GRCm39)	S123G	probably benign	Het
Ep400	A	G	5: 110,824,809 (GRCm39)		probably benign	Het
Fam184a	A	G	10: 53,575,351 (GRCm39)	I30T	probably damaging	Het
Fam20a	T	C	11: 109,564,239 (GRCm39)	I505V	probably benign	Het
Fbh1	T	C	2: 11,768,938 (GRCm39)	D285G	probably benign	Het
Fcho1	T	C	8: 72,169,444 (GRCm39)	E154G	probably damaging	Het
Klhdc1	A	G	12: 69,329,958 (GRCm39)	I362M	probably benign	Het
Knl1	A	T	2: 118,931,255 (GRCm39)	E1990D	probably benign	Het
Lancl2	A	G	6: 57,711,024 (GRCm39)	Y394C	probably damaging	Het
Lgi2	G	A	5: 52,723,299 (GRCm39)	S50F	probably damaging	Het
Map2k7	A	G	8: 4,288,950 (GRCm39)	E14G	probably damaging	Het
Mga	A	G	2: 119,754,517 (GRCm39)	I1009V	probably damaging	Het
Nat9	C	A	11: 115,074,234 (GRCm39)		probably null	Het
Nek2	G	A	1: 191,563,401 (GRCm39)	A422T	probably benign	Het
Nfkbiz	A	T	16: 55,636,034 (GRCm39)	L509Q	probably damaging	Het
Or56b2	A	T	7: 104,337,634 (GRCm39)	R137S	probably benign	Het
Pgap1	T	A	1: 54,587,147 (GRCm39)	Q143L	probably damaging	Het
Pkd1l3	C	T	8: 110,392,217 (GRCm39)	T1937I	probably damaging	Het
Pou1f1	A	G	16: 65,326,784 (GRCm39)	E128G	probably damaging	Het
Ppfia3	T	C	7: 44,989,996 (GRCm39)		probably benign	Het
Prkd1	T	C	12: 50,434,046 (GRCm39)	I566V	probably benign	Het
Psd2	A	G	18: 36,138,959 (GRCm39)	R528G	probably damaging	Het
Ptprg	G	T	14: 12,110,080 (GRCm38)	E263*	probably null	Het
Radil	T	C	5: 142,529,576 (GRCm39)	D40G	probably benign	Het
Ryr2	T	A	13: 11,750,442 (GRCm39)	Y1943F	probably damaging	Het
Slc30a4	C	T	2: 122,543,947 (GRCm39)		probably benign	Het
Slc31a1	A	T	4: 62,306,241 (GRCm39)	T120S	possibly damaging	Het
Snrpe	A	G	1: 133,537,487 (GRCm39)		probably benign	Het
Stx3	G	T	19: 11,796,046 (GRCm39)		probably benign	Het
Thoc2l	A	G	5: 104,666,867 (GRCm39)	E463G	possibly damaging	Het
Vac14	T	A	8: 111,379,950 (GRCm39)	M416K	possibly damaging	Het
Vmn1r81	A	C	7: 11,993,792 (GRCm39)	V272G	possibly damaging	Het
Vmn2r107	T	A	17: 20,578,062 (GRCm39)	I457K	probably benign	Het
Vmn2r72	A	T	7: 85,387,374 (GRCm39)	V730E	probably benign	Het
Vmn2r9	T	C	5: 108,995,433 (GRCm39)	Y405C	probably damaging	Het
Zcchc17	T	C	4: 130,210,440 (GRCm39)	*242W	probably null	Het
Zfp503	T	C	14: 22,037,354 (GRCm39)	K83R	possibly damaging	Het

Other mutations in Ufsp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2000:Ufsp1	UTSW	5	137,293,166 (GRCm39)	splice site	probably null
R4725:Ufsp1	UTSW	5	137,293,569 (GRCm39)	missense	probably damaging	0.98
R6700:Ufsp1	UTSW	5	137,293,158 (GRCm39)	missense	possibly damaging	0.88
R9663:Ufsp1	UTSW	5	137,293,545 (GRCm39)	missense	possibly damaging	0.76

Posted On

2015-04-16