Incidental Mutation 'IGL01443:St14'
ID 84317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol St14
Ensembl Gene ENSMUSG00000031995
Gene Name suppression of tumorigenicity 14 (colon carcinoma)
Synonyms Tmprss14, matriptase, Prss14, Epithin, MT-SP1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01443
Quality Score
Status
Chromosome 9
Chromosomal Location 31000698-31043149 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 31011489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 434 (S434*)
Ref Sequence ENSEMBL: ENSMUSP00000034478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034478]
AlphaFold P56677
Predicted Effect probably null
Transcript: ENSMUST00000034478
AA Change: S434*
SMART Domains Protein: ENSMUSP00000034478
Gene: ENSMUSG00000031995
AA Change: S434*

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,694,690 (GRCm39) E1159G possibly damaging Het
Adgrl3 A G 5: 81,613,134 (GRCm39) Y189C probably damaging Het
AW554918 G A 18: 25,478,012 (GRCm39) G446R probably damaging Het
Baiap3 A G 17: 25,464,121 (GRCm39) F884S possibly damaging Het
Cd101 T C 3: 100,910,887 (GRCm39) T924A probably benign Het
Cdk12 T A 11: 98,136,295 (GRCm39) V1183E unknown Het
Clcc1 T C 3: 108,578,219 (GRCm39) M240T probably benign Het
Dnmbp C A 19: 43,891,309 (GRCm39) A153S probably damaging Het
Dus4l T C 12: 31,702,409 (GRCm39) probably benign Het
Dyrk1a A G 16: 94,485,943 (GRCm39) E430G probably benign Het
Erc1 T C 6: 119,801,432 (GRCm39) K195R probably damaging Het
Evpl T C 11: 116,113,280 (GRCm39) E1470G probably damaging Het
Extl3 A T 14: 65,314,919 (GRCm39) S88T probably damaging Het
Fam135b A T 15: 71,335,213 (GRCm39) H660Q probably benign Het
Fat1 G A 8: 45,493,613 (GRCm39) G3920S probably damaging Het
Fbxo38 A G 18: 62,666,741 (GRCm39) V144A probably damaging Het
Grwd1 C T 7: 45,479,834 (GRCm39) probably null Het
Hdlbp T C 1: 93,358,796 (GRCm39) T252A probably damaging Het
Igkv3-1 A G 6: 70,681,088 (GRCm39) S96G possibly damaging Het
Igkv4-68 G T 6: 69,281,921 (GRCm39) F83L probably damaging Het
Klhl31 T C 9: 77,557,542 (GRCm39) V86A possibly damaging Het
Lypd3 G A 7: 24,336,063 (GRCm39) G17R probably benign Het
Manba T A 3: 135,250,589 (GRCm39) D405E probably damaging Het
Map3k19 A G 1: 127,766,244 (GRCm39) S227P probably benign Het
Nras T A 3: 102,969,751 (GRCm39) C118S probably benign Het
Or52n20 A G 7: 104,320,278 (GRCm39) D123G probably damaging Het
Pde8a T C 7: 80,973,929 (GRCm39) F629L probably damaging Het
Phtf2 A G 5: 20,987,265 (GRCm39) probably benign Het
Pik3c2a A T 7: 116,017,429 (GRCm39) F109L probably benign Het
Plod3 G A 5: 137,019,075 (GRCm39) R320H probably benign Het
Ppib T C 9: 65,972,879 (GRCm39) F152L probably damaging Het
Rbm19 T C 5: 120,281,503 (GRCm39) probably benign Het
Rgs12 T A 5: 35,132,563 (GRCm39) S628R probably benign Het
Ripk1 A G 13: 34,199,251 (GRCm39) D201G probably damaging Het
Speer4c2 A G 5: 15,857,642 (GRCm39) *212Q probably null Het
Tbc1d9 A G 8: 83,966,560 (GRCm39) D387G probably damaging Het
Trio A G 15: 27,838,861 (GRCm39) probably benign Het
Ttn G A 2: 76,544,215 (GRCm39) R32924C probably damaging Het
Vmn1r181 T C 7: 23,684,006 (GRCm39) V157A possibly damaging Het
Zfp473 C T 7: 44,388,987 (GRCm39) D45N probably damaging Het
Other mutations in St14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:St14 APN 9 31,015,075 (GRCm39) missense probably damaging 1.00
IGL01816:St14 APN 9 31,019,563 (GRCm39) missense possibly damaging 0.71
IGL02100:St14 APN 9 31,011,426 (GRCm39) splice site probably benign
IGL02494:St14 APN 9 31,019,941 (GRCm39) missense possibly damaging 0.47
IGL02588:St14 APN 9 31,001,329 (GRCm39) splice site probably benign
IGL02663:St14 APN 9 31,011,678 (GRCm39) splice site probably null
IGL02711:St14 APN 9 31,001,196 (GRCm39) missense probably benign 0.05
IGL03130:St14 APN 9 31,008,367 (GRCm39) critical splice donor site probably null
IGL03296:St14 APN 9 31,020,008 (GRCm39) missense probably damaging 0.98
IGL03400:St14 APN 9 31,008,267 (GRCm39) splice site probably benign
R0101:St14 UTSW 9 31,008,403 (GRCm39) missense probably benign 0.23
R0225:St14 UTSW 9 31,019,580 (GRCm39) critical splice acceptor site probably null
R0335:St14 UTSW 9 31,002,620 (GRCm39) splice site probably benign
R0892:St14 UTSW 9 31,011,724 (GRCm39) missense probably benign 0.38
R1334:St14 UTSW 9 31,019,506 (GRCm39) missense probably damaging 1.00
R1487:St14 UTSW 9 31,008,476 (GRCm39) missense probably damaging 1.00
R1521:St14 UTSW 9 31,019,511 (GRCm39) missense probably benign 0.03
R1782:St14 UTSW 9 31,011,460 (GRCm39) missense probably damaging 1.00
R1920:St14 UTSW 9 31,001,166 (GRCm39) missense possibly damaging 0.94
R1921:St14 UTSW 9 31,001,166 (GRCm39) missense possibly damaging 0.94
R1922:St14 UTSW 9 31,001,166 (GRCm39) missense possibly damaging 0.94
R1933:St14 UTSW 9 31,017,508 (GRCm39) missense probably benign 0.00
R2070:St14 UTSW 9 31,002,669 (GRCm39) missense probably damaging 1.00
R2411:St14 UTSW 9 31,019,530 (GRCm39) missense probably benign 0.13
R4152:St14 UTSW 9 31,001,802 (GRCm39) missense probably benign 0.08
R4375:St14 UTSW 9 31,001,754 (GRCm39) missense probably benign 0.02
R4419:St14 UTSW 9 31,008,224 (GRCm39) missense probably damaging 1.00
R4747:St14 UTSW 9 31,015,053 (GRCm39) missense possibly damaging 0.78
R4791:St14 UTSW 9 31,006,918 (GRCm39) missense probably benign 0.27
R4915:St14 UTSW 9 31,019,960 (GRCm39) nonsense probably null
R5056:St14 UTSW 9 31,008,847 (GRCm39) splice site probably null
R5134:St14 UTSW 9 31,006,879 (GRCm39) missense probably benign 0.00
R5241:St14 UTSW 9 31,011,714 (GRCm39) nonsense probably null
R5325:St14 UTSW 9 31,008,274 (GRCm39) splice site probably null
R5644:St14 UTSW 9 31,017,806 (GRCm39) missense probably benign
R5828:St14 UTSW 9 31,002,803 (GRCm39) missense probably damaging 1.00
R5922:St14 UTSW 9 31,041,200 (GRCm39) intron probably benign
R5930:St14 UTSW 9 31,015,056 (GRCm39) missense probably damaging 1.00
R5963:St14 UTSW 9 31,017,853 (GRCm39) intron probably benign
R6911:St14 UTSW 9 31,018,081 (GRCm39) missense probably benign 0.00
R6937:St14 UTSW 9 31,040,956 (GRCm39) splice site probably null
R6986:St14 UTSW 9 31,007,845 (GRCm39) missense probably damaging 0.98
R7226:St14 UTSW 9 31,011,448 (GRCm39) missense possibly damaging 0.63
R7395:St14 UTSW 9 31,008,195 (GRCm39) missense probably benign 0.29
R7400:St14 UTSW 9 31,019,571 (GRCm39) missense probably benign 0.36
R8194:St14 UTSW 9 31,042,921 (GRCm39) start codon destroyed probably null 0.95
R8886:St14 UTSW 9 31,008,420 (GRCm39) missense possibly damaging 0.93
R9248:St14 UTSW 9 31,002,905 (GRCm39) missense probably damaging 1.00
R9440:St14 UTSW 9 31,007,845 (GRCm39) missense probably damaging 0.98
Z1177:St14 UTSW 9 31,001,803 (GRCm39) missense probably damaging 0.98
Posted On 2013-11-11