Incidental Mutation 'R1782:St14'
ID 195397
Institutional Source Beutler Lab
Gene Symbol St14
Ensembl Gene ENSMUSG00000031995
Gene Name suppression of tumorigenicity 14 (colon carcinoma)
Synonyms Tmprss14, matriptase, Prss14, Epithin, MT-SP1
MMRRC Submission 039813-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1782 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 31000698-31043149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31011460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 444 (Y444H)
Ref Sequence ENSEMBL: ENSMUSP00000034478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034478]
AlphaFold P56677
Predicted Effect probably damaging
Transcript: ENSMUST00000034478
AA Change: Y444H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034478
Gene: ENSMUSG00000031995
AA Change: Y444H

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
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,247,971 (GRCm39) T2573S probably benign Het
Adgra3 G T 5: 50,129,404 (GRCm39) T738K probably benign Het
Adgrl4 C T 3: 151,248,442 (GRCm39) Q705* probably null Het
Atp2b1 T G 10: 98,839,063 (GRCm39) D630E probably benign Het
Atp2c1 G A 9: 105,308,786 (GRCm39) R577C probably damaging Het
Atp9b A G 18: 80,809,137 (GRCm39) V211A probably damaging Het
C8g T A 2: 25,389,094 (GRCm39) D163V possibly damaging Het
Catsper1 T C 19: 5,385,937 (GRCm39) Y57H probably benign Het
Ccdc25 C T 14: 66,091,597 (GRCm39) A72V probably benign Het
Cdca2 T G 14: 67,915,260 (GRCm39) E666D probably benign Het
Cdh23 G A 10: 60,324,321 (GRCm39) T313I probably damaging Het
Cfap57 C A 4: 118,472,172 (GRCm39) R69L probably damaging Het
Chat C A 14: 32,130,944 (GRCm39) V566L probably damaging Het
Cntn3 T C 6: 102,250,772 (GRCm39) I259V probably damaging Het
Cog1 A G 11: 113,544,792 (GRCm39) T325A probably benign Het
Cxcl10 A G 5: 92,495,662 (GRCm39) *94Q probably null Het
Cyp4a12b T C 4: 115,291,178 (GRCm39) Y369H probably damaging Het
Dhx33 T C 11: 70,892,466 (GRCm39) Y101C probably damaging Het
Dock6 A G 9: 21,723,142 (GRCm39) M1593T probably damaging Het
Dpy19l3 T C 7: 35,407,580 (GRCm39) T488A possibly damaging Het
Elapor2 A T 5: 9,471,620 (GRCm39) K320N possibly damaging Het
Fbxw14 A G 9: 109,107,759 (GRCm39) I205T possibly damaging Het
Fbxw7 T C 3: 84,811,126 (GRCm39) F84L probably benign Het
Flii T C 11: 60,605,462 (GRCm39) T1212A probably benign Het
Fosl1 T A 19: 5,500,210 (GRCm39) I43N probably damaging Het
Gabrr2 G A 4: 33,085,593 (GRCm39) A338T probably damaging Het
Gask1b T C 3: 79,793,838 (GRCm39) L102S possibly damaging Het
Gatad2b T C 3: 90,249,178 (GRCm39) V72A probably benign Het
Gorasp1 G T 9: 119,761,888 (GRCm39) N48K probably damaging Het
Gramd1b C A 9: 40,324,633 (GRCm39) D139Y probably damaging Het
Gtf3c1 A T 7: 125,266,246 (GRCm39) V1030E probably damaging Het
Havcr2 C T 11: 46,345,844 (GRCm39) T6I unknown Het
Hgs A G 11: 120,369,331 (GRCm39) E340G probably damaging Het
Irx2 A G 13: 72,779,585 (GRCm39) T290A probably benign Het
Itgb8 T A 12: 119,155,853 (GRCm39) I200F probably damaging Het
Josd2 A G 7: 44,120,577 (GRCm39) I105V probably damaging Het
Kcnh7 T A 2: 62,566,513 (GRCm39) D806V probably damaging Het
Kctd8 A G 5: 69,498,319 (GRCm39) V109A possibly damaging Het
Kmt2d T A 15: 98,755,429 (GRCm39) probably benign Het
Krtap2-4 A T 11: 99,505,353 (GRCm39) V86E probably damaging Het
Lgr6 C G 1: 134,915,717 (GRCm39) V344L probably damaging Het
Lime1 A T 2: 181,024,849 (GRCm39) R168W possibly damaging Het
Macroh2a1 A T 13: 56,222,134 (GRCm39) M339K probably damaging Het
Magel2 C T 7: 62,030,605 (GRCm39) Q1170* probably null Het
Ndufaf3 A T 9: 108,443,210 (GRCm39) I169N probably damaging Het
Neb T A 2: 52,174,357 (GRCm39) K1501* probably null Het
Nim1k A T 13: 120,173,687 (GRCm39) S402R probably benign Het
Nt5dc2 T G 14: 30,860,158 (GRCm39) S395R probably damaging Het
Oaz2 G T 9: 65,596,143 (GRCm39) V132L probably benign Het
Or2t45 T A 11: 58,669,631 (GRCm39) L226H probably damaging Het
Or4l1 A T 14: 50,166,096 (GRCm39) W302R probably benign Het
Or5b104 T A 19: 13,072,167 (GRCm39) I282F probably damaging Het
Or7g25 C T 9: 19,159,877 (GRCm39) V273I probably benign Het
Or8k39 T C 2: 86,563,026 (GRCm39) K310R probably benign Het
Pfkl A G 10: 77,824,554 (GRCm39) V717A probably benign Het
Phf8-ps T C 17: 33,286,662 (GRCm39) I47V probably benign Het
Phgdh C T 3: 98,228,063 (GRCm39) V231I probably damaging Het
Pkhd1 A T 1: 20,635,935 (GRCm39) M465K probably damaging Het
Ppp3r1 A G 11: 17,148,281 (GRCm39) H163R probably benign Het
Prune2 T A 19: 17,099,537 (GRCm39) N1680K probably benign Het
Puf60 T A 15: 75,943,724 (GRCm39) I216L probably benign Het
Rev3l T A 10: 39,675,881 (GRCm39) N190K probably benign Het
Rp1 G A 1: 4,419,312 (GRCm39) S600L probably benign Het
Rpl3l A G 17: 24,952,430 (GRCm39) I217V probably benign Het
Scly T A 1: 91,236,102 (GRCm39) V194D probably damaging Het
Scnn1b A G 7: 121,517,184 (GRCm39) T607A probably benign Het
Slc13a3 G A 2: 165,287,439 (GRCm39) L172F probably benign Het
Sorbs2 A G 8: 46,258,733 (GRCm39) Y1090C probably damaging Het
Spag17 T A 3: 99,918,070 (GRCm39) M351K probably benign Het
Taf8 C A 17: 47,809,136 (GRCm39) A109S probably benign Het
Tbc1d30 T A 10: 121,103,525 (GRCm39) K502N probably damaging Het
Them5 T C 3: 94,251,796 (GRCm39) S136P probably benign Het
Tmem248 T A 5: 130,260,769 (GRCm39) N111K probably damaging Het
Tmem74 C A 15: 43,730,348 (GRCm39) V232L probably damaging Het
Tnip2 A T 5: 34,657,012 (GRCm39) H264Q probably benign Het
Trim5 A G 7: 103,915,023 (GRCm39) probably null Het
Trim63 A G 4: 134,050,349 (GRCm39) Q211R probably benign Het
Trrap T C 5: 144,759,513 (GRCm39) V2231A possibly damaging Het
Ttn T C 2: 76,565,831 (GRCm39) S28174G probably benign Het
Ugt2b36 T C 5: 87,229,440 (GRCm39) D341G possibly damaging Het
Uroc1 G A 6: 90,313,901 (GRCm39) E63K probably damaging Het
Ush2a T C 1: 188,643,382 (GRCm39) V4248A probably benign Het
Usp1 A G 4: 98,822,435 (GRCm39) H583R probably damaging Het
Usp8 T A 2: 126,561,971 (GRCm39) F55Y probably damaging Het
Vmn2r13 T A 5: 109,306,040 (GRCm39) T513S probably benign Het
Wdr73 T C 7: 80,541,526 (GRCm39) T339A probably damaging Het
Wnt2 T A 6: 18,008,639 (GRCm39) N266I possibly damaging Het
Wwp2 AGAACT A 8: 108,233,031 (GRCm39) probably null Het
Other mutations in St14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:St14 APN 9 31,015,075 (GRCm39) missense probably damaging 1.00
IGL01443:St14 APN 9 31,011,489 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- AAAATCACTGTGCCGCTGAGCC -3'
(R):5'- TCCTGCACCAAGGACTATGTGGAG -3'

Sequencing Primer
(F):5'- GGGGACTGATCTCTCTTAACACAG -3'
(R):5'- AACCACATCCTGGGTATTGG -3'
Posted On 2014-05-23