Mutagenetix > Incidental Mutation

Incidental Mutation 'R4725:Ufsp1'

358398

Institutional Source

Beutler Lab

Gene Symbol

Ufsp1

Ensembl Gene

ENSMUSG00000051502

Gene Name

UFM1-specific peptidase 1

Synonyms

2700038N03Rik, D5Ertd655e

MMRRC Submission

041960-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.827) question?

Stock #

R4725 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137292931-137293926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137293569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 173 (I173T)

Ref Sequence

ENSEMBL: ENSMUSP00000056156 (fasta)

Gene Model

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

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: I173T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056156
Gene: ENSMUSG00000051502
AA Change: I173T

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

noncoding transcript
Transcript: ENSMUST00000150983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196960

Predicted Effect

probably benign
Transcript: ENSMUST00000199605

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: 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: 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: ENSMUST00000199365

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: 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

probably benign
Transcript: ENSMUST00000223263

Predicted Effect

probably benign
Transcript: ENSMUST00000199756

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (64/67)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	C	9: 120,406,769 (GRCm39)		probably benign	Het
Adamts20	T	C	15: 94,249,643 (GRCm39)	E458G	probably damaging	Het
Adgrl3	T	C	5: 81,914,052 (GRCm39)	I1220T	possibly damaging	Het
Aldh1a1	T	A	19: 20,617,445 (GRCm39)	M459K	probably benign	Het
Bmal1	C	A	7: 112,903,566 (GRCm39)	P454Q	possibly damaging	Het
Camta1	A	G	4: 151,232,953 (GRCm39)	V240A	probably benign	Het
Ccdc88b	C	T	19: 6,834,481 (GRCm39)	G149R	probably damaging	Het
Ceacam5	T	C	7: 17,494,602 (GRCm39)	V870A	probably benign	Het
Cep192	A	C	18: 67,949,837 (GRCm39)	Q307P	probably benign	Het
Cep63	T	C	9: 102,467,755 (GRCm39)		probably benign	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Ctdsp1	G	A	1: 74,433,823 (GRCm39)	V135I	possibly damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dchs1	C	G	7: 105,414,759 (GRCm39)	G761A	probably damaging	Het
Dennd5b	A	G	6: 148,946,277 (GRCm39)	Y445H	probably damaging	Het
Dock1	T	A	7: 134,346,743 (GRCm39)	L225*	probably null	Het
Drd3	G	T	16: 43,643,164 (GRCm39)	E467*	probably null	Het
Dysf	A	T	6: 84,074,738 (GRCm39)	N527I	probably damaging	Het
Erbb2	A	G	11: 98,315,970 (GRCm39)	T358A	possibly damaging	Het
Fhad1	A	T	4: 141,655,689 (GRCm39)		probably null	Het
Ganc	T	C	2: 120,265,754 (GRCm39)	I434T	probably damaging	Het
Gm5830	T	A	1: 78,945,549 (GRCm39)		noncoding transcript	Het
Gm6096	G	T	7: 33,950,484 (GRCm39)	E8*	probably null	Het
Gne	A	G	4: 44,066,806 (GRCm39)	F63S	probably benign	Het
Gpat2	T	C	2: 127,273,902 (GRCm39)	V315A	possibly damaging	Het
Gpr33	A	G	12: 52,070,892 (GRCm39)	L49P	probably damaging	Het
Heatr1	C	T	13: 12,439,543 (GRCm39)	Q1374*	probably null	Het
Hivep1	A	G	13: 42,316,887 (GRCm39)	I2032V	probably benign	Het
Igkv2-112	A	C	6: 68,197,450 (GRCm39)	I40L	probably benign	Het
Kcnab3	A	G	11: 69,221,294 (GRCm39)	N204D	probably benign	Het
Kcnj10	T	A	1: 172,196,726 (GRCm39)	F80Y	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Loxhd1	T	A	18: 77,483,153 (GRCm39)	Y1245N	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Mast1	A	G	8: 85,655,635 (GRCm39)	S170P	possibly damaging	Het
Mroh4	A	G	15: 74,487,956 (GRCm39)	L322P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nudcd3	A	T	11: 6,143,475 (GRCm39)	V1D	probably damaging	Het
Pah	T	A	10: 87,390,238 (GRCm39)	L25Q	probably damaging	Het
Pik3cg	A	T	12: 32,243,596 (GRCm39)		probably null	Het
Pira13	A	C	7: 3,824,547 (GRCm39)	S611A	probably benign	Het
Plekha6	C	A	1: 133,211,058 (GRCm39)	S625Y	probably damaging	Het
Rtn4	T	A	11: 29,658,362 (GRCm39)	S839T	probably damaging	Het
Rusc1	A	G	3: 88,998,736 (GRCm39)	S349P	possibly damaging	Het
Samsn1	A	T	16: 75,742,217 (GRCm39)		noncoding transcript	Het
Scimp	A	G	11: 70,691,539 (GRCm39)	V30A	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sgip1	A	G	4: 102,823,419 (GRCm39)	D680G	probably damaging	Het
Slc44a2	G	A	9: 21,259,691 (GRCm39)	V613M	probably damaging	Het
Smpdl3b	T	C	4: 132,472,489 (GRCm39)	T95A	probably damaging	Het
Spag6l	A	T	16: 16,610,395 (GRCm39)	L85H	probably damaging	Het
Sucla2	T	A	14: 73,806,429 (GRCm39)	Y167N	possibly damaging	Het
Svop	G	T	5: 114,203,546 (GRCm39)		probably benign	Het
Tnxb	A	T	17: 34,918,041 (GRCm39)	D2318V	probably damaging	Het
Trbv14	A	G	6: 41,112,332 (GRCm39)	D43G	probably benign	Het
Ubn2	A	G	6: 38,499,240 (GRCm39)		probably benign	Het
Zbtb40	A	G	4: 136,746,072 (GRCm39)		probably benign	Het

Other mutations in Ufsp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02086:Ufsp1	APN	5	137,293,178 (GRCm39)	missense	probably damaging	1.00
R2000:Ufsp1	UTSW	5	137,293,166 (GRCm39)	splice site	probably null
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

Predicted Primers

PCR Primer
(F):5'- GAACACTTCGGAGGACCTCAAG -3'
(R):5'- GCCTGTGCGAAGTAAATAGGTG -3'

Sequencing Primer
(F):5'- ACCTCAAGGGCGCCTATG -3'
(R):5'- AGTCTCAGTTCTGGGATCTACC -3'

Posted On

2015-11-11