Incidental Mutation 'IGL03031:Ufsp2'
ID 408444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ufsp2
Ensembl Gene ENSMUSG00000031634
Gene Name UFM1-specific peptidase 2
Synonyms 1810047C23Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03031
Quality Score
Status
Chromosome 8
Chromosomal Location 46428565-46449995 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46437137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 101 (I101N)
Ref Sequence ENSEMBL: ENSMUSP00000147993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034051] [ENSMUST00000123307] [ENSMUST00000130412] [ENSMUST00000150943] [ENSMUST00000209443] [ENSMUST00000210081]
AlphaFold Q99K23
Predicted Effect possibly damaging
Transcript: ENSMUST00000034051
AA Change: I176N

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634
AA Change: I176N

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: ENSMUST00000150943
Predicted Effect probably damaging
Transcript: ENSMUST00000209443
AA Change: I101N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000210081
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,353,183 (GRCm39) D753G probably benign Het
Adat2 T C 10: 13,432,590 (GRCm39) probably benign Het
Ahsa2 A G 11: 23,440,426 (GRCm39) L275S probably benign Het
Arhgef38 C T 3: 132,837,828 (GRCm39) D118N possibly damaging Het
Bicra A T 7: 15,709,726 (GRCm39) H1097Q probably benign Het
C4b T C 17: 34,950,104 (GRCm39) T1389A possibly damaging Het
Cd180 A G 13: 102,841,535 (GRCm39) S194G probably benign Het
Chgb C A 2: 132,635,434 (GRCm39) Q459K probably benign Het
Clvs1 G T 4: 9,449,385 (GRCm39) probably benign Het
Cpox G A 16: 58,492,923 (GRCm39) G186R probably damaging Het
Cul5 A G 9: 53,553,975 (GRCm39) probably benign Het
Epsti1 G A 14: 78,212,021 (GRCm39) R249K probably benign Het
Gabrg1 A T 5: 70,952,025 (GRCm39) Y90* probably null Het
Gabrp T C 11: 33,504,980 (GRCm39) R274G probably damaging Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Hectd4 C T 5: 121,486,857 (GRCm39) T3284M possibly damaging Het
Hoxc9 T C 15: 102,892,522 (GRCm39) M245T probably damaging Het
Lpar6 T C 14: 73,476,882 (GRCm39) V281A possibly damaging Het
Med18 G T 4: 132,186,924 (GRCm39) Q192K possibly damaging Het
Mis18bp1 A G 12: 65,208,704 (GRCm39) V3A probably benign Het
Mpped2 G T 2: 106,613,968 (GRCm39) probably benign Het
Ms4a10 A G 19: 10,946,035 (GRCm39) V32A probably benign Het
Mthfd1l T A 10: 3,968,601 (GRCm39) probably null Het
Myh1 A T 11: 67,097,213 (GRCm39) Q422L possibly damaging Het
Myo3b A T 2: 70,085,721 (GRCm39) Q819L possibly damaging Het
Ncoa1 G A 12: 4,324,818 (GRCm39) T921I possibly damaging Het
Or10d4b A G 9: 39,534,694 (GRCm39) I92V probably damaging Het
Or6c214 A G 10: 129,591,238 (GRCm39) L27P possibly damaging Het
Or8c16 A C 9: 38,130,361 (GRCm39) T81P probably damaging Het
Phf3 A G 1: 30,843,734 (GRCm39) S1742P probably benign Het
Plxdc2 G A 2: 16,655,043 (GRCm39) probably null Het
Poc5 A G 13: 96,538,123 (GRCm39) T263A probably benign Het
Prss41 T A 17: 24,061,396 (GRCm39) I132F probably damaging Het
Pxylp1 A G 9: 96,707,195 (GRCm39) I329T probably benign Het
Rbm27 T C 18: 42,466,464 (GRCm39) probably null Het
Rnps1-ps T C 6: 7,982,857 (GRCm39) noncoding transcript Het
Rpgrip1l A T 8: 91,987,411 (GRCm39) V882E probably damaging Het
Sec16b T C 1: 157,388,369 (GRCm39) S579P probably benign Het
Senp7 A G 16: 55,996,249 (GRCm39) E776G probably damaging Het
Smc2 A G 4: 52,449,638 (GRCm39) I207V probably benign Het
Spata31e5 A G 1: 28,817,664 (GRCm39) F123L probably benign Het
Spats2 A G 15: 99,078,569 (GRCm39) T211A probably benign Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Syt11 A T 3: 88,656,148 (GRCm39) M1K probably null Het
Tacc2 A G 7: 130,225,585 (GRCm39) T757A possibly damaging Het
Tecta A C 9: 42,256,789 (GRCm39) M1629R probably benign Het
Unc13b T A 4: 43,235,368 (GRCm39) C892S probably damaging Het
Ush1c A G 7: 45,874,361 (GRCm39) probably benign Het
Vwde A T 6: 13,208,381 (GRCm39) V167E probably benign Het
Wdfy4 A G 14: 32,862,608 (GRCm39) L588P probably damaging Het
Zfyve1 T C 12: 83,621,595 (GRCm39) T267A 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
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
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
Posted On 2016-08-02