Incidental Mutation 'IGL01936:Tmprss4'
ID180687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmprss4
Ensembl Gene ENSMUSG00000032091
Gene Nametransmembrane protease, serine 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01936
Quality Score
Status
Chromosome9
Chromosomal Location45172726-45204092 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 45179420 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 187 (V187A)
Ref Sequence ENSEMBL: ENSMUSP00000131890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034599] [ENSMUST00000165263] [ENSMUST00000170069]
Predicted Effect probably damaging
Transcript: ENSMUST00000034599
AA Change: V187A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034599
Gene: ENSMUSG00000032091
AA Change: V187A

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
LDLa 52 92 1.55e-2 SMART
SR 102 192 2.51e-7 SMART
Tryp_SPc 202 427 9.03e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164650
SMART Domains Protein: ENSMUSP00000130853
Gene: ENSMUSG00000091996

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165263
AA Change: V187A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131890
Gene: ENSMUSG00000032091
AA Change: V187A

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
LDLa 52 92 1.55e-2 SMART
SR 102 192 2.51e-7 SMART
Tryp_SPc 202 335 2.26e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166780
Predicted Effect probably benign
Transcript: ENSMUST00000170069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171277
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 member of the serine protease family. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified as a gene overexpressed in pancreatic carcinoma. The encoded protein is membrane bound with a N-terminal anchor sequence and a glycosylated extracellular region containing the serine protease domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele appear healthy and response normally to a sodium-deficient diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 89,861,423 H127L probably benign Het
Adamtsl3 T C 7: 82,595,371 V419A possibly damaging Het
Arhgap31 T A 16: 38,602,925 L926F probably damaging Het
Asgr2 A T 11: 70,098,051 probably null Het
C3ar1 T A 6: 122,851,235 T8S probably benign Het
Caskin2 T C 11: 115,804,717 I273V probably damaging Het
Ccnl2 T A 4: 155,820,399 C242S probably damaging Het
Cdkn2a A T 4: 89,294,332 probably null Het
Cfap45 T G 1: 172,534,049 M231R probably damaging Het
Clcn7 A C 17: 25,155,376 N464H probably benign Het
Col20a1 T A 2: 181,009,368 probably benign Het
Col7a1 T A 9: 108,967,999 probably benign Het
Cops7a T C 6: 124,962,416 D90G probably benign Het
Ctcf T C 8: 105,670,232 V363A probably benign Het
Cyp2j12 A G 4: 96,133,069 V100A probably benign Het
Dcaf1 T A 9: 106,859,601 F1085Y possibly damaging Het
Drc7 T A 8: 95,074,132 F594Y possibly damaging Het
Ehbp1l1 C A 19: 5,718,249 E1009* probably null Het
Epg5 C A 18: 77,985,101 R1286S probably damaging Het
Etv1 T C 12: 38,835,061 probably benign Het
Exosc7 T C 9: 123,135,891 probably benign Het
Fam227a T C 15: 79,612,546 D610G possibly damaging Het
Fat4 T A 3: 38,979,774 M2525K probably benign Het
Gimap5 G T 6: 48,753,065 A190S probably damaging Het
Glcci1 T A 6: 8,579,596 S79T probably damaging Het
Gm10093 T C 17: 78,492,129 V183A probably damaging Het
Gpnmb C T 6: 49,047,450 T233I probably null Het
Hyls1 T C 9: 35,562,067 I18V probably benign Het
Ighv1-63 C T 12: 115,495,654 E108K probably damaging Het
Ighv5-12 C A 12: 113,702,307 R57L probably damaging Het
Igkv5-37 T C 6: 69,963,339 Y107C probably damaging Het
Il20ra T A 10: 19,755,843 V264D probably damaging Het
Jph1 A T 1: 17,097,384 V74E probably damaging Het
Kcnab1 C T 3: 65,358,274 L280F probably damaging Het
Kcnk1 T C 8: 126,025,087 F144S probably damaging Het
Kcnq1 G A 7: 143,184,504 E294K possibly damaging Het
Kdm4b T A 17: 56,397,355 V813E probably damaging Het
Kntc1 T A 5: 123,811,376 F1937I probably damaging Het
Ldb2 G A 5: 44,480,244 R241W probably damaging Het
Lgr5 T C 10: 115,452,414 N703S probably damaging Het
Map4k1 A T 7: 28,988,607 M227L possibly damaging Het
Mbnl1 T A 3: 60,613,519 M268K possibly damaging Het
Mcm2 C A 6: 88,891,726 G350C probably damaging Het
Myh2 A T 11: 67,191,773 T1390S possibly damaging Het
Npat T A 9: 53,558,226 probably benign Het
Nr2e1 T A 10: 42,567,973 D251V possibly damaging Het
Olfr1425 C T 19: 12,074,057 V192I probably benign Het
Olfr1461 C A 19: 13,165,403 P130T probably damaging Het
Olfr54 A G 11: 51,027,335 N111S probably benign Het
Plekha5 T A 6: 140,524,895 H87Q probably damaging Het
Polr3a A G 14: 24,479,188 V368A probably damaging Het
Psmb8 T A 17: 34,200,194 L154Q probably damaging Het
Rab40c A C 17: 25,884,670 C140G probably damaging Het
Ranbp17 G A 11: 33,487,689 T183I probably benign Het
Ruvbl2 T C 7: 45,428,698 E117G probably damaging Het
Serpinb3b T A 1: 107,154,638 M299L probably benign Het
Smpdl3a A G 10: 57,802,434 H111R probably damaging Het
Sspo C A 6: 48,475,887 P2843H probably damaging Het
Stk39 T C 2: 68,314,564 T389A probably benign Het
Synrg T A 11: 84,019,705 F1000Y probably benign Het
Thbs2 C T 17: 14,687,814 S229N probably benign Het
Thsd1 G A 8: 22,252,231 C305Y probably damaging Het
Ticrr C A 7: 79,694,549 D1387E probably benign Het
Tmem145 G T 7: 25,311,391 A383S probably damaging Het
Unc13c T A 9: 73,693,242 M1407L probably benign Het
Vps39 C T 2: 120,323,128 G655D probably benign Het
Wwtr1 T C 3: 57,574,820 probably benign Het
Xrn1 T C 9: 96,048,344 S1535P probably damaging Het
Other mutations in Tmprss4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0153:Tmprss4 UTSW 9 45184336 missense probably benign 0.01
R1445:Tmprss4 UTSW 9 45184385 missense possibly damaging 0.59
R2359:Tmprss4 UTSW 9 45185832 missense probably benign
R3918:Tmprss4 UTSW 9 45180666 missense probably benign 0.13
R3919:Tmprss4 UTSW 9 45180666 missense probably benign 0.13
R4655:Tmprss4 UTSW 9 45176404 missense probably benign
R4949:Tmprss4 UTSW 9 45175543 missense possibly damaging 0.92
R4976:Tmprss4 UTSW 9 45173408 missense possibly damaging 0.86
R5177:Tmprss4 UTSW 9 45173962 missense probably benign 0.09
R5918:Tmprss4 UTSW 9 45175116 nonsense probably null
R6922:Tmprss4 UTSW 9 45185922 missense probably benign
R7091:Tmprss4 UTSW 9 45184273 missense probably damaging 0.97
R7488:Tmprss4 UTSW 9 45175555 missense probably benign 0.03
X0058:Tmprss4 UTSW 9 45177833 missense probably damaging 1.00
Z1088:Tmprss4 UTSW 9 45175465 missense probably damaging 0.98
Posted On2014-05-07