Mutagenetix > Incidental Mutation

Incidental Mutation 'R6700:Ufsp1'

528205

Institutional Source

Beutler Lab

Gene Symbol

Ufsp1

Ensembl Gene

ENSMUSG00000051502

Gene Name

UFM1-specific peptidase 1

Synonyms

2700038N03Rik, D5Ertd655e

MMRRC Submission

044818-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.827) question?

Stock #

R6700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137292931-137293926 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137293158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 36 (Y36C)

Ref Sequence

ENSEMBL: ENSMUSP00000056156 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000052825
AA Change: Y36C

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056156
Gene: ENSMUSG00000051502
AA Change: Y36C

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

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

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

noncoding transcript
Transcript: ENSMUST00000196394

Predicted Effect

probably benign
Transcript: ENSMUST00000138591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196576

Predicted Effect

probably benign
Transcript: ENSMUST00000141123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197409

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

noncoding transcript
Transcript: ENSMUST00000150983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200643

Predicted Effect

probably benign
Transcript: ENSMUST00000199756

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: 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

noncoding transcript
Transcript: ENSMUST00000199473

Predicted Effect

probably benign
Transcript: ENSMUST00000199365

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

100% (62/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,881,140 (GRCm39)	E504G	unknown	Het
Aak1	G	A	6: 86,941,185 (GRCm39)	E660K	unknown	Het
Abcc9	A	G	6: 142,633,013 (GRCm39)	I243T	possibly damaging	Het
Baiap3	A	G	17: 25,463,000 (GRCm39)	S1013P	probably damaging	Het
Bdp1	A	T	13: 100,162,036 (GRCm39)	D2295E	probably benign	Het
Blm	A	G	7: 80,113,598 (GRCm39)	V1233A	possibly damaging	Het
Brsk1	G	T	7: 4,695,700 (GRCm39)	V62F	probably damaging	Het
Cacna2d1	A	G	5: 16,570,458 (GRCm39)	E1011G	probably damaging	Het
Cdh18	A	G	15: 23,474,191 (GRCm39)	Y687C	probably benign	Het
Cfap221	T	C	1: 119,883,421 (GRCm39)	E250G	possibly damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Cps1	G	T	1: 67,268,682 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,760,130 (GRCm39)	V34A	probably damaging	Het
Dnah9	C	T	11: 65,846,192 (GRCm39)	V2949M	probably damaging	Het
Dst	A	C	1: 34,295,404 (GRCm39)	Q3454P	probably damaging	Het
Filip1l	T	C	16: 57,391,611 (GRCm39)	L495P	possibly damaging	Het
Flnb	C	A	14: 7,892,189 (GRCm38)	H619Q	probably damaging	Het
Fst	G	C	13: 114,595,043 (GRCm39)	A27G	probably benign	Het
Ggnbp2	C	A	11: 84,730,931 (GRCm39)	R364L	probably damaging	Het
Gins1	C	T	2: 150,758,148 (GRCm39)	A78V	probably damaging	Het
Gm19410	T	A	8: 36,274,664 (GRCm39)	L1495H	possibly damaging	Het
Golgb1	C	T	16: 36,695,946 (GRCm39)		probably benign	Het
Lin7a	A	G	10: 107,216,167 (GRCm39)		probably null	Het
Lrp6	A	T	6: 134,456,523 (GRCm39)	C914S	probably damaging	Het
Lrrc8e	G	A	8: 4,286,034 (GRCm39)	G753D	probably damaging	Het
Mapk4	A	G	18: 74,063,882 (GRCm39)	Y447H	probably damaging	Het
Mbl1	A	G	14: 40,880,511 (GRCm39)	N133S	probably damaging	Het
Mrps30	A	T	13: 118,517,134 (GRCm39)	S362T	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nbea	T	C	3: 55,989,869 (GRCm39)	N329S	possibly damaging	Het
Or13p10	A	T	4: 118,523,609 (GRCm39)	K298N	probably benign	Het
Or51k2	G	A	7: 103,596,531 (GRCm39)	V253M	probably damaging	Het
Or5b120	A	T	19: 13,480,177 (GRCm39)	I157F	probably damaging	Het
Or6k14	G	A	1: 173,927,405 (GRCm39)	C127Y	probably damaging	Het
Pik3c3	A	G	18: 30,449,954 (GRCm39)	E589G	probably benign	Het
Plb1	A	T	5: 32,490,808 (GRCm39)	D1035V	probably damaging	Het
Plekhg1	G	T	10: 3,907,373 (GRCm39)	M763I	probably benign	Het
Poc5	A	G	13: 96,531,003 (GRCm39)	N67S	probably benign	Het
Psmd13	T	A	7: 140,470,522 (GRCm39)	W255R	probably damaging	Het
Rbm27	A	G	18: 42,459,004 (GRCm39)	Y735C	probably damaging	Het
Rhpn2	A	T	7: 35,075,594 (GRCm39)	N257I	possibly damaging	Het
Rilpl2	C	T	5: 124,607,843 (GRCm39)	E126K	probably damaging	Het
Rp1	G	A	1: 4,420,119 (GRCm39)	T331M	probably damaging	Het
Sh3pxd2a	A	G	19: 47,353,146 (GRCm39)	V105A	possibly damaging	Het
Slc9a9	T	C	9: 94,818,364 (GRCm39)	S253P	possibly damaging	Het
St8sia3	C	T	18: 64,398,452 (GRCm39)		probably benign	Het
Strbp	T	C	2: 37,493,975 (GRCm39)	D366G	probably null	Het
Tbx5	A	G	5: 120,009,462 (GRCm39)	T324A	probably benign	Het
Tex15	T	A	8: 34,064,917 (GRCm39)	I1449N	possibly damaging	Het
Tmtc3	C	T	10: 100,307,339 (GRCm39)	V222I	probably benign	Het
Top3b	T	C	16: 16,710,533 (GRCm39)	S788P	possibly damaging	Het
Tsc22d4	A	G	5: 137,756,785 (GRCm39)	D71G	probably benign	Het
Tubgcp4	T	A	2: 121,020,329 (GRCm39)	V434E	probably benign	Het
Unc79	T	A	12: 103,091,962 (GRCm39)	H1956Q	possibly damaging	Het
Usp34	A	T	11: 23,389,011 (GRCm39)	N2217I	probably damaging	Het
Vmn2r112	A	T	17: 22,822,462 (GRCm39)	D380V	possibly damaging	Het
Vmn2r13	A	G	5: 109,322,938 (GRCm39)	I117T	probably benign	Het
Vmn2r53	A	G	7: 12,315,633 (GRCm39)	Y729H	probably damaging	Het
Wnt3a	A	T	11: 59,140,587 (GRCm39)	L310M	probably damaging	Het
Zc3h7a	T	C	16: 10,976,831 (GRCm39)	Q155R	possibly damaging	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
R4725:Ufsp1	UTSW	5	137,293,569 (GRCm39)	missense	probably damaging	0.98
R9663:Ufsp1	UTSW	5	137,293,545 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- TAGCCTGCTTGCTGAGAGTTC -3'
(R):5'- ACACAGCCGATCCAGTTACG -3'

Sequencing Primer
(F):5'- CTGAGAGTTCTCCGGTTCTACG -3'
(R):5'- ATCCAGTTACGGGAGCCC -3'

Posted On

2018-07-24