Incidental Mutation 'R6726:Ufsp2'
ID 529867
Institutional Source Beutler Lab
Gene Symbol Ufsp2
Ensembl Gene ENSMUSG00000031634
Gene Name UFM1-specific peptidase 2
Synonyms 1810047C23Rik
MMRRC Submission 044844-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6726 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 46428565-46449995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46438504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 194 (M194T)
Ref Sequence ENSEMBL: ENSMUSP00000147993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034051] [ENSMUST00000123307] [ENSMUST00000130412] [ENSMUST00000209443] [ENSMUST00000210081]
AlphaFold Q99K23
Predicted Effect probably benign
Transcript: ENSMUST00000034051
AA Change: M269T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634
AA Change: M269T

DomainStartEndE-ValueType
low complexity region 87 103 N/A INTRINSIC
Pfam:Peptidase_C78 268 453 1.3e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123041
Predicted Effect probably benign
Transcript: ENSMUST00000123307
Predicted Effect probably benign
Transcript: ENSMUST00000130412
Predicted Effect probably benign
Transcript: ENSMUST00000209443
AA Change: M194T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000210081
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency 100% (41/41)
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
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Arfgef2 T A 2: 166,735,540 (GRCm39) probably null Het
Arsk T C 13: 76,222,907 (GRCm39) Y230C probably damaging Het
Atf7ip G A 6: 136,559,389 (GRCm39) V737M probably damaging Het
Atp6v1e1 A T 6: 120,781,011 (GRCm39) probably null Het
Bbs9 T C 9: 22,557,260 (GRCm39) V3A probably benign Het
Brap T C 5: 121,813,365 (GRCm39) S243P probably damaging Het
Camkmt T A 17: 85,702,037 (GRCm39) I167N probably damaging Het
Ckap2l C A 2: 129,111,114 (GRCm39) E694D probably damaging Het
Crmp1 G A 5: 37,441,408 (GRCm39) V497I probably benign Het
Dbx2 A G 15: 95,522,741 (GRCm39) V322A possibly damaging Het
Dll1 C A 17: 15,590,513 (GRCm39) C401F probably damaging Het
Dock10 T C 1: 80,490,147 (GRCm39) T1991A probably damaging Het
Dock3 C T 9: 107,036,651 (GRCm39) W42* probably null Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Hdac1-ps A G 17: 78,800,287 (GRCm39) E426G probably damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Irs2 T C 8: 11,054,961 (GRCm39) N1157S possibly damaging Het
Kndc1 T C 7: 139,502,667 (GRCm39) probably null Het
Map3k19 T C 1: 127,748,185 (GRCm39) N1241S probably benign Het
Or9g4b T C 2: 85,615,906 (GRCm39) F17S possibly damaging Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Pcdh17 T A 14: 84,683,657 (GRCm39) D41E probably damaging Het
Plg T G 17: 12,597,595 (GRCm39) L14R probably damaging Het
Prkab1 A G 5: 116,158,092 (GRCm39) V168A probably benign Het
Prr35 G C 17: 26,166,689 (GRCm39) P283A probably benign Het
Ptdss1 C T 13: 67,101,595 (GRCm39) R95* probably null Het
Rab3gap2 T G 1: 184,980,062 (GRCm39) S327A probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Homo
Sdr42e2 T C 7: 120,425,332 (GRCm39) S308P probably damaging Het
Senp8 C A 9: 59,644,473 (GRCm39) V228L probably benign Het
Serpina10 A T 12: 103,594,628 (GRCm39) I197K probably benign Het
Serpinb6d A G 13: 33,854,718 (GRCm39) N231S probably benign Het
Sez6l2 T C 7: 126,567,177 (GRCm39) V869A probably damaging Het
Sgo2b T A 8: 64,380,769 (GRCm39) K688* probably null Het
Sh3kbp1 A T X: 158,624,176 (GRCm39) E39D probably benign Homo
Ush2a T C 1: 188,485,881 (GRCm39) I2997T possibly damaging Het
Vmn2r107 G A 17: 20,595,637 (GRCm39) G730D probably damaging Het
Wdr72 T C 9: 74,059,822 (GRCm39) Y411H possibly damaging Het
Xirp2 T C 2: 67,343,212 (GRCm39) S1818P 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
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
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'- CCATTGACCTTAATGAATGAAGTCT -3'
(R):5'- ACCCACTAATTACACCTATCTTAAATG -3'

Sequencing Primer
(F):5'- ATTGTTTTCTTTGCCTATTGATTCTG -3'
(R):5'- ACTTGCTACGTAGACCAGGTTGAC -3'
Posted On 2018-08-01