Incidental Mutation 'R1921:St14'
ID 213066
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 039939-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1921 (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 31001166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 855 (V855A)
Ref Sequence ENSEMBL: ENSMUSP00000034478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034478]
AlphaFold P56677
Predicted Effect possibly damaging
Transcript: ENSMUST00000034478
AA Change: V855A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034478
Gene: ENSMUSG00000031995
AA Change: V855A

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
Meta Mutation Damage Score 0.1516 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.3%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Abhd2 T C 7: 78,998,104 (GRCm39) I212T possibly damaging Het
Adam7 A C 14: 68,750,074 (GRCm39) S449A possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aox3 T C 1: 58,219,810 (GRCm39) Y1137H probably damaging Het
Atp11b T C 3: 35,888,474 (GRCm39) Y715H probably damaging Het
Atrn A G 2: 130,836,971 (GRCm39) Y1145C probably damaging Het
Btbd7 A G 12: 102,760,055 (GRCm39) I631T probably benign Het
Cadps T C 14: 12,465,859 (GRCm38) K1017R possibly damaging Het
Cfap45 A G 1: 172,372,679 (GRCm39) E458G probably damaging Het
Cptp C T 4: 155,950,995 (GRCm39) R157H probably damaging Het
Dcbld1 A C 10: 52,195,747 (GRCm39) E318D possibly damaging Het
Ddr2 G T 1: 169,831,814 (GRCm39) P197Q probably damaging Het
Dlg5 T C 14: 24,226,639 (GRCm39) Y421C probably damaging Het
Dlgap2 A G 8: 14,893,624 (GRCm39) K980E probably benign Het
Drc7 T C 8: 95,782,644 (GRCm39) V3A unknown Het
Dst T C 1: 34,200,110 (GRCm39) V96A probably damaging Het
Ect2l T C 10: 18,018,752 (GRCm39) D548G possibly damaging Het
Efcab10 A T 12: 33,448,434 (GRCm39) Y89F probably benign Het
Eif1ad CGAGGAGGAGGAGGAGGAGG CGAGGAGGAGGAGGAGG 19: 5,420,086 (GRCm39) probably benign Het
Entpd6 A G 2: 150,600,732 (GRCm39) T147A probably damaging Het
Fbxl5 T A 5: 43,922,832 (GRCm39) E189D probably benign Het
Fer1l6 T A 15: 58,497,080 (GRCm39) S1217T probably damaging Het
Frem2 A T 3: 53,560,916 (GRCm39) V1197D possibly damaging Het
Fsip2 T A 2: 82,811,127 (GRCm39) L2482* probably null Het
Fsip2 A T 2: 82,817,164 (GRCm39) D4299V probably benign Het
Gipc3 T A 10: 81,174,049 (GRCm39) I242F probably damaging Het
Hoxb1 T A 11: 96,256,938 (GRCm39) Y96N probably damaging Het
Ibsp A G 5: 104,458,078 (GRCm39) E205G probably damaging Het
Ibtk A G 9: 85,585,135 (GRCm39) S1170P probably benign Het
Igfn1 A G 1: 135,893,801 (GRCm39) probably null Het
Iqsec1 A G 6: 90,639,877 (GRCm39) S954P probably benign Het
Kalrn A T 16: 34,212,463 (GRCm39) D28E probably benign Het
Lrmda T C 14: 22,627,938 (GRCm39) F52L probably damaging Het
Lrp2 T C 2: 69,353,631 (GRCm39) D543G probably damaging Het
Lrrtm3 T C 10: 63,924,157 (GRCm39) T337A probably benign Het
Marf1 C T 16: 13,946,465 (GRCm39) D1219N possibly damaging Het
Mkln1 A G 6: 31,405,113 (GRCm39) K118R probably benign Het
Nedd4l T C 18: 65,300,646 (GRCm39) probably null Het
Neu2 A G 1: 87,525,023 (GRCm39) E336G probably benign Het
Nfasc A G 1: 132,538,543 (GRCm39) F448S probably damaging Het
Nlrx1 C A 9: 44,165,431 (GRCm39) E822* probably null Het
Nr5a1 T C 2: 38,584,108 (GRCm39) Y437C probably damaging Het
Or4c119 A G 2: 88,986,925 (GRCm39) V198A probably benign Het
Or7a37 T A 10: 78,805,975 (GRCm39) L164* probably null Het
Or8b38 T C 9: 37,972,981 (GRCm39) Y122H probably damaging Het
Phtf1 C T 3: 103,876,438 (GRCm39) Q13* probably null Het
Pnldc1 A G 17: 13,107,815 (GRCm39) L525P possibly damaging Het
Ppl T A 16: 4,923,988 (GRCm39) D162V possibly damaging Het
Prkdc T A 16: 15,532,079 (GRCm39) S1448T possibly damaging Het
Ptgdr A G 14: 45,090,738 (GRCm39) I340T probably benign Het
Recql T C 6: 142,311,315 (GRCm39) I458M probably benign Het
Rrbp1 A T 2: 143,830,211 (GRCm39) V652E probably benign Het
Rtp1 T A 16: 23,250,160 (GRCm39) I175N probably damaging Het
Ryr1 A G 7: 28,754,369 (GRCm39) M3523T probably damaging Het
S100a16 T C 3: 90,449,703 (GRCm39) L62P probably damaging Het
Samd11 T C 4: 156,333,166 (GRCm39) E364G probably damaging Het
Satb1 C A 17: 52,049,143 (GRCm39) G603* probably null Het
Shroom3 T A 5: 93,110,224 (GRCm39) probably null Het
Slc25a15 A G 8: 22,885,777 (GRCm39) S3P probably benign Het
Socs2 A T 10: 95,248,900 (GRCm39) L71* probably null Het
Sptbn1 T C 11: 30,054,469 (GRCm39) E2208G probably damaging Het
Susd1 T A 4: 59,412,191 (GRCm39) T121S probably benign Het
Svs3b A T 2: 164,097,848 (GRCm39) S158T probably benign Het
Synpo C T 18: 60,736,661 (GRCm39) M428I probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Taar4 A G 10: 23,837,239 (GRCm39) D283G probably damaging Het
Tango6 T A 8: 107,415,426 (GRCm39) D82E probably benign Het
Tcof1 T C 18: 60,971,927 (GRCm39) T127A possibly damaging Het
Tle3 G A 9: 61,318,622 (GRCm39) probably null Het
Tmem45a A G 16: 56,642,665 (GRCm39) F169L probably benign Het
Trp53rkb T A 2: 166,637,743 (GRCm39) V233E probably damaging Het
Ttc7b C T 12: 100,381,389 (GRCm39) probably null Het
Tubgcp3 A T 8: 12,671,932 (GRCm39) L770* probably null Het
Tut1 G A 19: 8,943,466 (GRCm39) G851D probably benign Het
Ubr1 G A 2: 120,761,449 (GRCm39) T576I probably benign Het
Vmn1r125 T A 7: 21,006,530 (GRCm39) Y143N probably damaging Het
Vmn2r120 T A 17: 57,831,839 (GRCm39) I317F probably benign Het
Vmn2r95 T A 17: 18,644,575 (GRCm39) N70K probably benign Het
Vps35l A G 7: 118,432,971 (GRCm39) N568S probably damaging Het
Wdr59 A T 8: 112,213,582 (GRCm39) L311* probably null Het
Wnt2 A G 6: 18,030,252 (GRCm39) L12P unknown Het
Xrn1 T C 9: 95,881,550 (GRCm39) I700T probably benign Het
Ypel1 A G 16: 16,900,443 (GRCm39) H98R probably benign Het
Zfp219 T C 14: 52,245,691 (GRCm39) T434A probably benign Het
Zik1 A C 7: 10,223,943 (GRCm39) C385G probably damaging 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
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
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'- GGGTCCCACTTTGGAAGAACTC -3'
(R):5'- GACTACTCACGCACAGGATTC -3'

Sequencing Primer
(F):5'- CTGAGTCCTAAGGATGCAGTTCAC -3'
(R):5'- GAAAGATGGGCGAATGTTC -3'
Posted On 2014-07-14