Incidental Mutation 'IGL03072:Tmprss5'
ID417554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss5
Ensembl Gene ENSMUSG00000032268
Gene Nametransmembrane protease, serine 5 (spinesin)
Synonymsspinesin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL03072
Quality Score
Status
Chromosome9
Chromosomal Location49081260-49117587 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 49109018 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 99 (N99K)
Ref Sequence ENSEMBL: ENSMUSP00000129482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070390] [ENSMUST00000165088] [ENSMUST00000166272] [ENSMUST00000167095] [ENSMUST00000170246]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070390
AA Change: N105K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268
AA Change: N105K

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
Pfam:SRCR_2 106 203 4.2e-38 PFAM
Tryp_SPc 207 438 1.28e-90 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165088
AA Change: N115K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268
AA Change: N115K

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:SRCR_2 116 213 2.9e-38 PFAM
Tryp_SPc 217 448 1.28e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166272
SMART Domains Protein: ENSMUSP00000130069
Gene: ENSMUSG00000032268

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000167095
AA Change: N41K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131650
Gene: ENSMUSG00000032268
AA Change: N41K

DomainStartEndE-ValueType
Pfam:SRCR_2 42 139 1.1e-38 PFAM
Tryp_SPc 143 374 1.28e-90 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000170246
AA Change: N99K

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268
AA Change: N99K

DomainStartEndE-ValueType
transmembrane domain 38 60 N/A INTRINSIC
Pfam:SRCR_2 100 197 1.4e-38 PFAM
Tryp_SPc 201 432 1.28e-90 SMART
Predicted Effect unknown
Transcript: ENSMUST00000170426
AA Change: N5K
SMART Domains Protein: ENSMUSP00000128662
Gene: ENSMUSG00000032268
AA Change: N5K

DomainStartEndE-ValueType
Pfam:SRCR_2 7 84 3.4e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171217
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 protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik G A 13: 77,259,997 V148I probably benign Het
Ahcyl2 T C 6: 29,906,501 probably benign Het
Ahnak T C 19: 9,006,508 S1719P probably benign Het
C2cd5 A G 6: 143,079,883 I196T possibly damaging Het
Cdhr2 A G 13: 54,726,661 I849V probably benign Het
Cpsf3 A G 12: 21,295,088 K134E possibly damaging Het
Dnaic1 A G 4: 41,602,979 T161A probably benign Het
Gm17093 G T 14: 44,520,672 probably benign Het
Igf2bp2 A G 16: 22,068,141 probably null Het
Lcor T C 19: 41,558,814 V279A possibly damaging Het
Myo9a C A 9: 59,809,442 T475K possibly damaging Het
Nat8f4 A G 6: 85,900,854 probably benign Het
Neto1 A G 18: 86,498,589 T344A probably benign Het
Olfr1048 A T 2: 86,236,460 M118K probably damaging Het
Olfr371 A G 8: 85,230,510 N5S probably benign Het
Olfr772 A T 10: 129,174,489 D177E probably damaging Het
Pde8a A T 7: 81,308,809 I312F probably damaging Het
Ppp3cb A G 14: 20,531,725 I74T probably damaging Het
Prom1 T C 5: 44,058,662 probably benign Het
Psg29 T C 7: 17,208,794 V240A probably benign Het
Reep4 T C 14: 70,548,235 S238P probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tph1 G A 7: 46,652,859 T313M probably damaging Het
Tprn T C 2: 25,264,518 S611P probably damaging Het
Upp2 G T 2: 58,755,423 probably null Het
Vezt C A 10: 93,974,033 A549S probably damaging Het
Zfp786 A G 6: 47,821,243 Y254H probably benign Het
Other mutations in Tmprss5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Tmprss5 APN 9 49109457 makesense probably null
IGL02705:Tmprss5 APN 9 49107147 missense probably benign 0.19
IGL03107:Tmprss5 APN 9 49113228 missense possibly damaging 0.78
PIT4366001:Tmprss5 UTSW 9 49112217 missense probably benign 0.24
R0207:Tmprss5 UTSW 9 49113160 missense possibly damaging 0.88
R0477:Tmprss5 UTSW 9 49115165 missense possibly damaging 0.94
R1542:Tmprss5 UTSW 9 49109134 missense possibly damaging 0.81
R1819:Tmprss5 UTSW 9 49107164 missense probably benign 0.09
R2395:Tmprss5 UTSW 9 49115135 nonsense probably null
R4600:Tmprss5 UTSW 9 49113248 missense possibly damaging 0.67
R4967:Tmprss5 UTSW 9 49115517 missense probably damaging 0.98
R5819:Tmprss5 UTSW 9 49114479 splice site probably null
R7266:Tmprss5 UTSW 9 49114541 missense probably benign
R7876:Tmprss5 UTSW 9 49109091 missense probably benign 0.10
R7959:Tmprss5 UTSW 9 49109091 missense probably benign 0.10
Z1177:Tmprss5 UTSW 9 49115155 missense not run
Posted On2016-08-02