Incidental Mutation 'IGL02705:Tmprss5'
ID304308
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: 0.057) question?
Stock #IGL02705
Quality Score
Status
Chromosome9
Chromosomal Location49081260-49117587 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 49107147 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 92 (N92K)
Ref Sequence ENSEMBL: ENSMUSP00000130069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070390] [ENSMUST00000165088] [ENSMUST00000166272] [ENSMUST00000167095] [ENSMUST00000170246]
Predicted Effect probably benign
Transcript: ENSMUST00000070390
AA Change: N82K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268
AA Change: N82K

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 probably benign
Transcript: ENSMUST00000165088
AA Change: N92K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268
AA Change: N92K

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
AA Change: N92K

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130069
Gene: ENSMUSG00000032268
AA Change: N92K

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167095
SMART Domains Protein: ENSMUSP00000131650
Gene: ENSMUSG00000032268

DomainStartEndE-ValueType
Pfam:SRCR_2 42 139 1.1e-38 PFAM
Tryp_SPc 143 374 1.28e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170246
AA Change: N76K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268
AA Change: N76K

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 probably benign
Transcript: ENSMUST00000170426
SMART Domains Protein: ENSMUSP00000128662
Gene: ENSMUSG00000032268

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik A G 1: 151,915,513 F99S probably damaging Het
Ankrd17 G A 5: 90,283,115 P937S probably benign Het
Apom T G 17: 35,130,495 probably null Het
Baz2b A G 2: 59,948,260 I752T possibly damaging Het
Bcat1 T C 6: 145,019,188 probably benign Het
Bcl9 A G 3: 97,204,865 F1425L possibly damaging Het
Bco1 G A 8: 117,117,503 V319M possibly damaging Het
Dmwd C A 7: 19,080,844 T473K probably benign Het
Fam71a T C 1: 191,164,302 Y48C probably damaging Het
Gata2 C T 6: 88,205,364 A438V possibly damaging Het
Gm13084 A G 4: 143,810,802 S320P probably damaging Het
Ifnz A G 4: 88,783,337 probably benign Het
Myh14 T C 7: 44,608,536 I1859V possibly damaging Het
Ndn A G 7: 62,349,108 D234G probably damaging Het
Nfe2l3 T C 6: 51,433,118 L71P probably damaging Het
Nfia T G 4: 97,783,368 L105R probably damaging Het
Npy2r T A 3: 82,540,749 T127S probably benign Het
Olfr570 T C 7: 102,901,242 Y292H probably damaging Het
Olfr834 T A 9: 18,988,400 N137K probably benign Het
Ppip5k2 A T 1: 97,759,199 C94S probably damaging Het
Slc1a6 T C 10: 78,801,954 V438A probably damaging Het
Slc6a7 C T 18: 61,009,428 G71R probably damaging Het
Styk1 C T 6: 131,312,583 V23I probably benign Het
Trpm6 T G 19: 18,776,733 probably null Het
Ttn C T 2: 76,846,770 probably benign Het
Vmn2r109 G A 17: 20,553,800 A431V probably benign Het
Wdr17 C T 8: 54,648,215 probably null Het
Zcchc6 A G 13: 59,789,203 F808S probably damaging Het
Zfp407 G T 18: 84,559,031 S1319* probably null Het
Other mutations in Tmprss5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Tmprss5 APN 9 49109457 makesense probably null
IGL03072:Tmprss5 APN 9 49109018 missense possibly damaging 0.68
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 probably damaging 1.00
Posted On2015-04-16