Incidental Mutation 'R9122:Ufsp2'
ID 692822
Institutional Source Beutler Lab
Gene Symbol Ufsp2
Ensembl Gene ENSMUSG00000031634
Gene Name UFM1-specific peptidase 2
Synonyms 1810047C23Rik
MMRRC Submission 068924-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9122 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 46428565-46449995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46438441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 248 (Y248F)
Ref Sequence ENSEMBL: ENSMUSP00000034051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034051] [ENSMUST00000123307] [ENSMUST00000130412] [ENSMUST00000209443] [ENSMUST00000210081]
AlphaFold Q99K23
PDB Structure Ubiquitin-fold modifier 1 Specific Protease, UfSP2 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000034051
AA Change: Y248F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634
AA Change: Y248F

DomainStartEndE-ValueType
low complexity region 87 103 N/A INTRINSIC
Pfam:Peptidase_C78 268 453 1.3e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123307
Predicted Effect probably benign
Transcript: ENSMUST00000130412
Predicted Effect possibly damaging
Transcript: ENSMUST00000209443
AA Change: Y173F

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000210081
Meta Mutation Damage Score 0.0760 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (42/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C G 17: 36,203,963 (GRCm39) S185T probably benign Het
Armh4 A T 14: 50,011,459 (GRCm39) Y83N possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cacna1d C A 14: 29,845,402 (GRCm39) R611L probably damaging Het
Cacna1d G A 14: 29,852,125 (GRCm39) T498I probably benign Het
Cc2d2a T A 5: 43,831,081 (GRCm39) D57E probably null Het
Cd180 C A 13: 102,841,517 (GRCm39) L188M probably damaging Het
Chd7 A G 4: 8,840,510 (GRCm39) K1426R possibly damaging Het
Cntnap5c A T 17: 58,411,601 (GRCm39) D495V probably benign Het
Col11a1 T A 3: 113,907,249 (GRCm39) M630K unknown Het
Cxxc1 T G 18: 74,350,246 (GRCm39) D4E probably benign Het
Ddx31 G A 2: 28,748,753 (GRCm39) R227Q probably damaging Het
Ddx60 A G 8: 62,442,898 (GRCm39) M1109V probably benign Het
Dennd5b T C 6: 148,908,240 (GRCm39) T1018A Het
Efcab3 A T 11: 104,856,605 (GRCm39) D3840V unknown Het
Ggta1 A T 2: 35,303,336 (GRCm39) probably null Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gpr37l1 C T 1: 135,095,209 (GRCm39) V12I probably benign Het
Grin2a A T 16: 9,397,186 (GRCm39) V967E possibly damaging Het
H2ac25 T C 11: 58,845,667 (GRCm39) L35P probably damaging Het
Helz A G 11: 107,556,830 (GRCm39) T1283A probably benign Het
Ints1 A G 5: 139,745,930 (GRCm39) M1315T possibly damaging Het
Klri1 T A 6: 129,693,995 (GRCm39) R31* probably null Het
Nadk T A 4: 155,671,275 (GRCm39) N226K probably benign Het
Ncapg T C 5: 45,846,015 (GRCm39) F624S possibly damaging Het
Nxn A T 11: 76,169,317 (GRCm39) I154N probably damaging Het
Pclo T C 5: 14,729,998 (GRCm39) V2952A unknown Het
Poc1a T C 9: 106,162,242 (GRCm39) V89A probably benign Het
Pou2f2 T A 7: 24,792,302 (GRCm39) T518S probably benign Het
Pou5f1 C T 17: 35,819,953 (GRCm39) T7I probably benign Het
Prss44 T C 9: 110,646,362 (GRCm39) V363A probably damaging Het
Rhobtb1 T C 10: 69,106,653 (GRCm39) V468A probably damaging Het
Slc24a1 C A 9: 64,834,478 (GRCm39) M981I probably benign Het
Tacc1 G T 8: 25,659,255 (GRCm39) S570R probably damaging Het
Tle3 C T 9: 61,314,755 (GRCm39) probably benign Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Trgv1 G A 13: 19,524,330 (GRCm39) G18E probably damaging Het
Trim23 A G 13: 104,317,681 (GRCm39) T61A probably benign Het
Tshr C A 12: 91,478,737 (GRCm39) H195N probably benign Het
Ttn A G 2: 76,712,151 (GRCm39) S8202P unknown Het
Vmn2r12 T A 5: 109,240,910 (GRCm39) I68L probably benign Het
Wdfy3 C A 5: 102,091,831 (GRCm39) V503L probably damaging Het
Zfp788 A T 7: 41,299,919 (GRCm39) K852* probably null Het
Zfp980 A C 4: 145,428,834 (GRCm39) H521P probably 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
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
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
R9135:Ufsp2 UTSW 8 46,447,050 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGCACTTAGATGCCTGCAG -3'
(R):5'- CCTTATACAAGGTCTTGAACAAAGG -3'

Sequencing Primer
(F):5'- GCCTGCAGCATTATGAACATTG -3'
(R):5'- TGGGGACCAATCCAAAAG -3'
Posted On 2021-12-30