Incidental Mutation 'IGL02100:St14'
ID279726
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 #IGL02100
Quality Score
Status
Chromosome9
Chromosomal Location31089402-31131853 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 31100130 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: 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A T 3: 36,081,880 Q347L probably null Het
Acvr2a T C 2: 48,898,618 probably benign Het
Ankrd28 T C 14: 31,727,625 probably benign Het
Atp6v1b1 A G 6: 83,758,444 Y498C probably damaging Het
Cdh3 G A 8: 106,543,690 V400I probably benign Het
Chrnb1 G T 11: 69,793,455 probably benign Het
Col1a2 A G 6: 4,524,177 probably benign Het
Cyp2j7 A G 4: 96,236,556 L35P probably damaging Het
Dennd2c G A 3: 103,153,675 S561N probably damaging Het
Dennd4a A T 9: 64,909,706 probably benign Het
Dynll1 A C 5: 115,298,793 V58G probably damaging Het
Eif3a A T 19: 60,767,004 probably benign Het
Ercc6 T C 14: 32,517,095 S47P probably benign Het
Fam76b A G 9: 13,844,120 probably benign Het
Gbp4 T A 5: 105,122,075 probably benign Het
Gdi2 T C 13: 3,556,373 F140L probably benign Het
Gm28043 T C 17: 29,691,426 probably null Het
Gm5117 T A 8: 31,737,384 noncoding transcript Het
Gstm6 G T 3: 107,942,337 N85K probably benign Het
Hip1r C T 5: 123,998,943 probably benign Het
Igf1r T C 7: 68,189,958 I671T probably benign Het
Insrr T G 3: 87,811,620 F961C probably damaging Het
Kbtbd8 T C 6: 95,122,682 Y314H probably damaging Het
Kif26b C A 1: 178,915,947 L756I probably damaging Het
Lcor G A 19: 41,558,754 R259Q possibly damaging Het
Mad1l1 T A 5: 140,143,934 S449C probably damaging Het
Map1a T G 2: 121,302,846 L1381R probably damaging Het
Mdn1 G T 4: 32,715,708 V1992L possibly damaging Het
Pigp G A 16: 94,364,767 Q99* probably null Het
Rgs8 A T 1: 153,692,723 probably null Het
Rnf170 T A 8: 26,123,984 L36H probably damaging Het
Rpap1 T C 2: 119,769,326 S1004G probably benign Het
Rpl10a-ps2 T C 13: 8,940,743 probably benign Het
Ryr2 T A 13: 11,737,873 E1854V possibly damaging Het
Scn7a T G 2: 66,675,499 *1682S probably null Het
Sema3d A G 5: 12,584,991 T675A probably benign Het
Slc1a2 T C 2: 102,756,089 F346S probably damaging Het
Stard5 T C 7: 83,640,445 V173A possibly damaging Het
Taf1b A G 12: 24,544,395 Y309C possibly damaging Het
Tet1 T C 10: 62,812,728 N1975S possibly damaging Het
Them5 T A 3: 94,344,475 I131N probably damaging Het
Tmem55a T C 4: 14,893,536 I133T probably benign Het
Tnc A C 4: 64,000,161 V1171G possibly damaging Het
Ttc12 C A 9: 49,440,182 G672W probably damaging Het
Usp8 T C 2: 126,737,854 probably benign Het
Utp4 A G 8: 106,898,175 N92S probably benign Het
Was A T X: 8,090,315 F38L possibly damaging Het
Wdr78 A G 4: 103,050,149 C647R probably damaging 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
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
IGL03400:St14 APN 9 31096971 splice site probably benign
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 On2015-04-16