Incidental Mutation 'IGL03334:Prss48'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss48
Ensembl Gene ENSMUSG00000049013
Gene Nameprotease, serine 48
SynonymsGm1019, Esspl
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL03334
Quality Score
Chromosomal Location85993810-86002491 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85997318 bp
Amino Acid Change Glutamic Acid to Glycine at position 191 (E191G)
Ref Sequence ENSEMBL: ENSMUSP00000051199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061343]
AlphaFold Q14B25
Predicted Effect probably damaging
Transcript: ENSMUST00000061343
AA Change: E191G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051199
Gene: ENSMUSG00000049013
AA Change: E191G

signal peptide 1 22 N/A INTRINSIC
Tryp_SPc 39 271 9.46e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182969
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,947,475 F762L probably benign Het
A430078G23Rik A T 8: 3,388,023 I286F probably benign Het
Angpt1 T A 15: 42,496,412 E208V possibly damaging Het
Arhgef5 T C 6: 43,274,000 S562P possibly damaging Het
Asb6 T C 2: 30,824,484 T205A probably benign Het
B4galnt4 G A 7: 141,067,441 probably null Het
Clca4a A T 3: 144,953,866 M743K probably benign Het
Col14a1 T C 15: 55,448,821 probably benign Het
Col27a1 A T 4: 63,314,722 Y359F probably damaging Het
Dhcr7 T A 7: 143,840,497 V125D possibly damaging Het
Ercc3 T C 18: 32,240,837 probably null Het
Fnbp1l A G 3: 122,557,949 V315A probably benign Het
Gm17174 T A 14: 51,591,963 R48* probably null Het
Golga4 C T 9: 118,537,233 probably benign Het
Grin1 C T 2: 25,298,393 probably null Het
Ifi203 T A 1: 173,937,835 K58* probably null Het
Ighv2-9-1 A G 12: 113,769,923 S93P probably benign Het
Il27ra A G 8: 84,031,122 V594A probably benign Het
Krr1 T G 10: 111,980,054 S275R probably benign Het
Lars T C 18: 42,221,506 D792G probably benign Het
Myo1f G A 17: 33,598,194 R737H probably damaging Het
Nebl T A 2: 17,413,711 H292L probably damaging Het
Nell1 C A 7: 50,062,611 probably null Het
Nktr T C 9: 121,748,176 F412L probably benign Het
Nlrp3 T A 11: 59,549,016 I473N probably damaging Het
Olfr338 T C 2: 36,377,051 Y92H possibly damaging Het
Phf3 A G 1: 30,805,729 V1383A probably damaging Het
Psg25 T A 7: 18,529,774 L41F probably benign Het
Sema3b A G 9: 107,604,077 L78P probably damaging Het
Spen G T 4: 141,469,969 N3496K probably damaging Het
Tbk1 A T 10: 121,584,199 H28Q possibly damaging Het
Trpv3 T A 11: 73,281,665 probably benign Het
Vmn1r218 T C 13: 23,136,618 L45P probably damaging Het
Vmn2r35 T A 7: 7,786,494 Y748F probably damaging Het
Vps18 C T 2: 119,297,482 R929W probably damaging Het
Xpnpep1 T C 19: 53,010,146 K224E probably damaging Het
Zbed5 T A 5: 129,902,355 F382I possibly damaging Het
Other mutations in Prss48
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0554:Prss48 UTSW 3 86000921 missense probably benign 0.06
R1903:Prss48 UTSW 3 85998307 nonsense probably null
R2884:Prss48 UTSW 3 85997255 missense probably benign 0.10
R5730:Prss48 UTSW 3 85997256 missense possibly damaging 0.89
R5889:Prss48 UTSW 3 85998185 missense probably damaging 1.00
R6625:Prss48 UTSW 3 85998066 missense probably benign 0.02
R7357:Prss48 UTSW 3 85997221 missense probably damaging 1.00
Posted On2016-08-02