Incidental Mutation 'R0661:Ufsp2'
ID 61841
Institutional Source Beutler Lab
Gene Symbol Ufsp2
Ensembl Gene ENSMUSG00000031634
Gene Name UFM1-specific peptidase 2
Synonyms 1810047C23Rik
MMRRC Submission 038846-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0661 (G1)
Quality Score 102
Status Not validated
Chromosome 8
Chromosomal Location 46428565-46449995 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 46432270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000147971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034051] [ENSMUST00000095323] [ENSMUST00000098786] [ENSMUST00000123307] [ENSMUST00000130412] [ENSMUST00000209443] [ENSMUST00000150943] [ENSMUST00000210081]
AlphaFold Q99K23
Predicted Effect probably null
Transcript: ENSMUST00000034051
AA Change: M1K

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 87 103 N/A INTRINSIC
Pfam:Peptidase_C78 268 453 1.3e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095323
SMART Domains Protein: ENSMUSP00000092961
Gene: ENSMUSG00000071103

DomainStartEndE-ValueType
Pfam:DUF4586 7 297 1.2e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098786
SMART Domains Protein: ENSMUSP00000096383
Gene: ENSMUSG00000071103

DomainStartEndE-ValueType
Pfam:DUF4586 8 294 6.8e-114 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123041
Predicted Effect probably null
Transcript: ENSMUST00000123307
AA Change: M1K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably null
Transcript: ENSMUST00000130412
AA Change: M1K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably null
Transcript: ENSMUST00000209443
AA Change: M1K
Predicted Effect probably null
Transcript: ENSMUST00000150943
AA Change: M1K

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably null
Transcript: ENSMUST00000210081
AA Change: M1K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b T A 3: 20,370,163 (GRCm39) T148S possibly damaging Het
Anks3 A G 16: 4,766,198 (GRCm39) F124L probably damaging Het
Ar T A X: 97,194,171 (GRCm39) Y262N probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
Brip1 A T 11: 86,001,189 (GRCm39) I749N possibly damaging Het
C1ra T A 6: 124,499,336 (GRCm39) H507Q probably benign Het
Cdk9 G A 2: 32,599,832 (GRCm39) T135I probably damaging Het
Col1a1 A G 11: 94,840,215 (GRCm39) T1088A unknown Het
Cpne2 T C 8: 95,282,667 (GRCm39) I283T possibly damaging Het
Dcaf17 T C 2: 70,918,779 (GRCm39) L451P probably damaging Het
Dhx57 C T 17: 80,576,293 (GRCm39) C599Y probably damaging Het
Drd1 T A 13: 54,207,057 (GRCm39) N379Y possibly damaging Het
Fsip2 A G 2: 82,816,513 (GRCm39) D4082G possibly damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Heyl G T 4: 123,139,824 (GRCm39) V128F probably damaging Het
Hoxd12 A G 2: 74,506,236 (GRCm39) E216G probably damaging Het
Inpp4b C A 8: 82,468,091 (GRCm39) A18E possibly damaging Het
Invs G A 4: 48,421,861 (GRCm39) R831H probably benign Het
Lrrk2 T C 15: 91,671,219 (GRCm39) V2000A probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Or11g27 A G 14: 50,771,552 (GRCm39) T228A probably benign Het
Or5an9 T C 19: 12,187,068 (GRCm39) L46P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pcdh18 A C 3: 49,707,767 (GRCm39) S902R possibly damaging Het
Prdm15 A T 16: 97,630,882 (GRCm39) V190E probably benign Het
Ranbp2 T G 10: 58,314,555 (GRCm39) S1758R probably benign Het
Rimbp2 A G 5: 128,863,774 (GRCm39) V738A probably benign Het
Rtl5 T C X: 101,114,056 (GRCm39) H138R possibly damaging Het
Sec11a A G 7: 80,584,787 (GRCm39) V50A probably damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc26a6 T C 9: 108,736,312 (GRCm39) probably null Het
Slf1 A G 13: 77,231,715 (GRCm39) W555R probably benign Het
Spx A G 6: 142,359,565 (GRCm39) S5G possibly damaging Het
Tcp1 T C 17: 13,142,200 (GRCm39) V398A probably benign Het
Tm6sf1 G A 7: 81,515,093 (GRCm39) probably null Het
Tsbp1 A T 17: 34,678,887 (GRCm39) I217F possibly damaging Het
Usf1 G A 1: 171,245,067 (GRCm39) R196Q probably damaging Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Yme1l1 T A 2: 23,081,054 (GRCm39) M442K probably damaging Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Other mutations in Ufsp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCTGTTCCAGAGTTAGGAGGCATTG -3'
(R):5'- TGGCATCAGCCTCAGCCAAAAG -3'

Sequencing Primer
(F):5'- CTAAGTGTCCCTAGATGACTTCAG -3'
(R):5'- tgacaattttcttcaagacagcc -3'
Posted On 2013-07-30