Incidental Mutation 'IGL02523:Ufsp2'
ID296956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ufsp2
Ensembl Gene ENSMUSG00000031634
Gene NameUFM1-specific peptidase 2
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02523
Quality Score
Status
Chromosome8
Chromosomal Location45975528-45996958 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45983548 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 112 (M112K)
Ref Sequence ENSEMBL: ENSMUSP00000034051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034051] [ENSMUST00000123307] [ENSMUST00000130412] [ENSMUST00000150943] [ENSMUST00000209443] [ENSMUST00000210081]
PDB Structure
Ubiquitin-fold modifier 1 Specific Protease, UfSP2 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000034051
AA Change: M112K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034051
Gene: ENSMUSG00000031634
AA Change: M112K

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 benign
Transcript: ENSMUST00000209443
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah1 T C 8: 41,351,947 D109G probably benign Het
Ces2c C A 8: 104,848,114 P68T probably damaging Het
Csl G A 10: 99,758,813 T130I probably benign Het
Cyp2g1 C T 7: 26,819,187 R376W probably damaging Het
Ddb1 T C 19: 10,627,632 L1029P probably damaging Het
Dennd4c T C 4: 86,774,253 probably benign Het
Eya2 C T 2: 165,754,436 probably benign Het
Fars2 G T 13: 36,204,693 G55V probably damaging Het
Fcgbp C A 7: 28,104,732 A1755E possibly damaging Het
Ggt7 T A 2: 155,514,703 E32V probably damaging Het
Heg1 C A 16: 33,738,622 T1071K probably damaging Het
Hpca A G 4: 129,118,575 F56S probably damaging Het
Hyal4 T A 6: 24,765,969 Y441N probably damaging Het
Igsf8 T A 1: 172,319,413 probably benign Het
Ints13 A G 6: 146,557,611 S301P probably benign Het
Krt33a G A 11: 100,011,692 T374I probably benign Het
Nav3 T C 10: 109,769,296 D972G probably damaging Het
Npc1 T C 18: 12,201,572 T708A probably benign Het
Olfr1113 A T 2: 87,213,320 N143Y probably benign Het
Olfr214 A T 6: 116,557,093 I223L probably benign Het
Olfr355 T C 2: 36,927,955 D53G probably damaging Het
Olfr62 A T 4: 118,666,041 N175Y probably benign Het
P2rx2 A G 5: 110,342,042 S87P probably damaging Het
Pdxdc1 A T 16: 13,881,935 L62H probably damaging Het
Plekhj1 A T 10: 80,797,849 probably null Het
Ptbp2 A T 3: 119,740,487 Y244* probably null Het
Ralbp1 T C 17: 65,859,091 E366G probably damaging Het
Rergl T A 6: 139,496,460 probably benign Het
Slc25a45 T A 19: 5,884,609 probably null Het
Spop G A 11: 95,485,921 D267N possibly damaging Het
Tars2 T C 3: 95,741,393 D625G probably damaging Het
Tlk2 A G 11: 105,275,947 K593R probably damaging Het
Tlr3 T A 8: 45,398,391 probably null Het
Tmem205 C T 9: 21,921,288 R109H probably benign Het
Tmem41b A G 7: 109,982,728 I56T probably damaging Het
Ube2q2 T C 9: 55,191,879 V168A probably damaging Het
Wipi2 T A 5: 142,661,032 V208E probably damaging Het
Xkr9 A G 1: 13,684,250 E156G probably benign Het
Other mutations in Ufsp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02092:Ufsp2 APN 8 45995664 critical splice donor site probably null
IGL02122:Ufsp2 APN 8 45995648 missense probably benign 0.01
IGL03031:Ufsp2 APN 8 45984100 missense probably damaging 1.00
R0317:Ufsp2 UTSW 8 45992233 critical splice donor site probably null
R0523:Ufsp2 UTSW 8 45996743 missense probably benign 0.00
R0538:Ufsp2 UTSW 8 45992150 missense probably damaging 1.00
R0661:Ufsp2 UTSW 8 45979233 start codon destroyed probably null 1.00
R3927:Ufsp2 UTSW 8 45983686 splice site probably null
R4319:Ufsp2 UTSW 8 45995627 missense possibly damaging 0.95
R4355:Ufsp2 UTSW 8 45985465 missense possibly damaging 0.95
R5183:Ufsp2 UTSW 8 45994089 missense probably benign 0.18
R5473:Ufsp2 UTSW 8 45992221 missense probably damaging 1.00
R6726:Ufsp2 UTSW 8 45985467 missense probably benign 0.05
R7133:Ufsp2 UTSW 8 45983624 missense probably benign 0.00
R7534:Ufsp2 UTSW 8 45980324 missense probably benign 0.34
Posted On2015-04-16