Incidental Mutation 'IGL03400:St14'
ID421403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St14
Ensembl Gene ENSMUSG00000031995
Gene Namesuppression of tumorigenicity 14 (colon carcinoma)
SynonymsMT-SP1, matriptase, Tmprss14, Prss14, Epithin
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03400
Quality Score
Status
Chromosome9
Chromosomal Location31089402-31131853 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 31096971 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034478]
Predicted Effect probably benign
Transcript: ENSMUST00000034478
SMART Domains Protein: ENSMUSP00000034478
Gene: ENSMUSG00000031995

DomainStartEndE-ValueType
transmembrane domain 55 77 N/A INTRINSIC
Pfam:SEA 88 181 7.9e-17 PFAM
CUB 214 334 4.24e-14 SMART
CUB 340 447 4.37e-25 SMART
LDLa 452 486 2.31e-9 SMART
LDLa 487 523 4.08e-10 SMART
LDLa 524 561 3.98e-13 SMART
LDLa 566 604 1.48e-7 SMART
Tryp_SPc 614 849 1.25e-93 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217404
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus results in pleiotropic defects affecting the development of the epidermis, hair follicles, and immune system. Mutant mice become dehydrated due to impaired epidermal barrier function and die within days of birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Bmp3 T C 5: 98,872,098 S127P probably damaging Het
Ccdc84 A G 9: 44,413,189 V185A probably benign Het
Cemip A G 7: 83,958,516 S761P probably damaging Het
Ces3b A G 8: 105,092,936 T495A probably damaging Het
Cops3 A T 11: 59,818,088 D413E probably benign Het
Cyp4f16 A G 17: 32,550,353 I406V probably benign Het
Efcab6 A T 15: 83,867,045 probably benign Het
Emsy A G 7: 98,602,726 V703A possibly damaging Het
Fancb T C X: 164,995,591 S587P possibly damaging Het
Farp1 A G 14: 121,207,321 Y80C probably damaging Het
Fgf10 T C 13: 118,781,615 probably null Het
Fgf13 A G X: 59,125,888 probably benign Het
Filip1 T C 9: 79,820,473 K288R probably benign Het
L3mbtl3 T C 10: 26,315,526 N458S unknown Het
Nek11 C T 9: 105,204,866 A513T probably benign Het
Olfr1018 T C 2: 85,823,750 Y260H probably damaging Het
Olfr1320 T A X: 49,683,904 L134Q probably damaging Het
Olfr512 A C 7: 108,713,526 I46L probably benign Het
Palld G T 8: 61,513,455 A630E probably damaging Het
Pdk1 T C 2: 71,895,747 M333T probably benign Het
Rab9 T C X: 166,457,748 N189S probably benign Het
Shtn1 C T 19: 59,032,258 probably benign Het
Sntg1 T C 1: 8,463,414 I339V probably damaging Het
Spns3 A G 11: 72,499,675 V418A possibly damaging Het
Tedc2 T C 17: 24,219,803 D180G probably benign Het
Trim33 T C 3: 103,329,143 I523T probably damaging Het
Ttn T A 2: 76,720,864 M23068L probably benign Het
Ttn T C 2: 76,748,922 M15549V probably damaging Het
Tubgcp6 A G 15: 89,108,099 probably benign Het
Ube3c A G 5: 29,601,347 Y329C probably benign Het
Zmym4 G T 4: 126,923,127 D259E probably benign Het
Other mutations in St14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:St14 APN 9 31103779 missense probably damaging 1.00
IGL01443:St14 APN 9 31100193 nonsense probably null
IGL01816:St14 APN 9 31108267 missense possibly damaging 0.71
IGL02100:St14 APN 9 31100130 splice site probably benign
IGL02494:St14 APN 9 31108645 missense possibly damaging 0.47
IGL02588:St14 APN 9 31090033 splice site probably benign
IGL02663:St14 APN 9 31100382 splice site probably null
IGL02711:St14 APN 9 31089900 missense probably benign 0.05
IGL03130:St14 APN 9 31097071 critical splice donor site probably null
IGL03296:St14 APN 9 31108712 missense probably damaging 0.98
R0101:St14 UTSW 9 31097107 missense probably benign 0.23
R0225:St14 UTSW 9 31108284 critical splice acceptor site probably null
R0335:St14 UTSW 9 31091324 splice site probably benign
R0892:St14 UTSW 9 31100428 missense probably benign 0.38
R1334:St14 UTSW 9 31108210 missense probably damaging 1.00
R1487:St14 UTSW 9 31097180 missense probably damaging 1.00
R1521:St14 UTSW 9 31108215 missense probably benign 0.03
R1782:St14 UTSW 9 31100164 missense probably damaging 1.00
R1920:St14 UTSW 9 31089870 missense possibly damaging 0.94
R1921:St14 UTSW 9 31089870 missense possibly damaging 0.94
R1922:St14 UTSW 9 31089870 missense possibly damaging 0.94
R1933:St14 UTSW 9 31106212 missense probably benign 0.00
R2070:St14 UTSW 9 31091373 missense probably damaging 1.00
R2411:St14 UTSW 9 31108234 missense probably benign 0.13
R4152:St14 UTSW 9 31090506 missense probably benign 0.08
R4375:St14 UTSW 9 31090458 missense probably benign 0.02
R4419:St14 UTSW 9 31096928 missense probably damaging 1.00
R4747:St14 UTSW 9 31103757 missense possibly damaging 0.78
R4791:St14 UTSW 9 31095622 missense probably benign 0.27
R4915:St14 UTSW 9 31108664 nonsense probably null
R5056:St14 UTSW 9 31097551 splice site probably null
R5134:St14 UTSW 9 31095583 missense probably benign 0.00
R5241:St14 UTSW 9 31100418 nonsense probably null
R5325:St14 UTSW 9 31096978 splice site probably null
R5644:St14 UTSW 9 31106510 missense probably benign
R5828:St14 UTSW 9 31091507 missense probably damaging 1.00
R5922:St14 UTSW 9 31129904 intron probably benign
R5930:St14 UTSW 9 31103760 missense probably damaging 1.00
R5963:St14 UTSW 9 31106557 intron probably benign
R6911:St14 UTSW 9 31106785 missense probably benign 0.00
R6937:St14 UTSW 9 31129660 intron probably null
R6986:St14 UTSW 9 31096549 missense probably damaging 0.98
R7226:St14 UTSW 9 31100152 missense possibly damaging 0.63
R7395:St14 UTSW 9 31096899 missense probably benign 0.29
R7400:St14 UTSW 9 31108275 missense probably benign 0.36
Z1177:St14 UTSW 9 31090507 missense probably damaging 0.98
Posted On2016-08-02