Incidental Mutation 'IGL01350:Tmprss5'
ID75338
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 #IGL01350
Quality Score
Status
Chromosome9
Chromosomal Location49081260-49117587 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to A at 49109457 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Lysine at position 84 (*84K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070390] [ENSMUST00000165088] [ENSMUST00000165088] [ENSMUST00000166272] [ENSMUST00000167095] [ENSMUST00000170246]
Predicted Effect probably null
Transcript: ENSMUST00000070390
SMART Domains Protein: ENSMUSP00000064527
Gene: ENSMUSG00000032268

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 null
Transcript: ENSMUST00000165088
SMART Domains Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268

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 null
Transcript: ENSMUST00000165088
SMART Domains Protein: ENSMUSP00000132181
Gene: ENSMUSG00000032268

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 probably null
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 null
Transcript: ENSMUST00000170246
SMART Domains Protein: ENSMUSP00000129482
Gene: ENSMUSG00000032268

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 null
Transcript: ENSMUST00000170426
AA Change: *84K
SMART Domains Protein: ENSMUSP00000128662
Gene: ENSMUSG00000032268
AA Change: *84K

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,368,458 I926T probably benign Het
Adam39 T A 8: 40,825,839 C422* probably null Het
Aldh1l1 A G 6: 90,559,356 N81S probably damaging Het
Amd1 A T 10: 40,290,190 Y264* probably null Het
Axl T C 7: 25,758,750 Y851C probably damaging Het
Ccdc70 T C 8: 21,973,674 L160P probably damaging Het
Cd2ap A T 17: 42,825,921 Y273* probably null Het
Cyb5rl T C 4: 107,084,212 V278A possibly damaging Het
Cyp2c29 T C 19: 39,330,327 F417S probably damaging Het
Dnah7b C A 1: 46,081,432 probably benign Het
Epha4 A T 1: 77,506,855 D172E probably damaging Het
Eya4 T A 10: 23,113,974 I495F possibly damaging Het
Gpr150 A T 13: 76,056,423 H134Q probably benign Het
Gpr153 T G 4: 152,281,966 probably benign Het
Hipk2 A G 6: 38,818,315 Y333H probably damaging Het
Jakmip1 T C 5: 37,085,431 M21T probably benign Het
Kcnh3 A T 15: 99,241,992 I920F probably benign Het
Lrp2 G A 2: 69,510,984 R951C probably damaging Het
Msi1 A G 5: 115,435,521 K126R possibly damaging Het
Nkx2-6 T A 14: 69,174,773 F130Y probably damaging Het
Olfr1045 A G 2: 86,197,805 *316Q probably null Het
Olfr478 T C 7: 108,031,680 Y221C probably damaging Het
Olfr533 G T 7: 140,466,379 M59I probably damaging Het
Onecut2 T A 18: 64,341,089 L218Q probably damaging Het
Pah T A 10: 87,578,359 probably benign Het
Per2 C T 1: 91,430,861 E602K probably damaging Het
Plb1 C T 5: 32,317,064 T623M probably damaging Het
Prkaa2 T C 4: 105,051,912 probably null Het
Prl7b1 T A 13: 27,602,821 T142S probably damaging Het
Psd3 T C 8: 67,720,892 H1090R probably damaging Het
Siglecf G T 7: 43,355,895 probably benign Het
Tas2r118 A G 6: 23,969,747 V105A probably damaging Het
Thnsl1 T C 2: 21,212,200 V255A probably benign Het
Trrap C T 5: 144,830,969 L2579F possibly damaging Het
Vdac1 A G 11: 52,385,662 T211A probably benign Het
Vmn1r16 A T 6: 57,322,731 V302D possibly damaging Het
Wdr75 T A 1: 45,818,260 C572* probably null Het
Xpc A G 6: 91,500,011 S369P probably benign Het
Zdhhc20 A G 14: 57,873,987 V52A probably benign Het
Zfp977 T C 7: 42,580,666 Y145C probably damaging Het
Other mutations in Tmprss5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02705:Tmprss5 APN 9 49107147 missense probably benign 0.19
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 On2013-10-07