Incidental Mutation 'R5930:St14'
ID 460185
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 044125-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5930 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 31000698-31043149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31015056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 314 (V314D)
Ref Sequence ENSEMBL: ENSMUSP00000034478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034478] [ENSMUST00000123557] [ENSMUST00000214418]
AlphaFold P56677
Predicted Effect probably damaging
Transcript: ENSMUST00000034478
AA Change: V314D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034478
Gene: ENSMUSG00000031995
AA Change: V314D

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 probably benign
Transcript: ENSMUST00000123557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148789
Predicted Effect probably benign
Transcript: ENSMUST00000214418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217404
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 94% (102/109)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,545,570 (GRCm39) V5572I probably benign Het
Agap1 C T 1: 89,770,818 (GRCm39) T656I probably damaging Het
Als2cl C T 9: 110,716,432 (GRCm39) R247W probably damaging Het
Ankfy1 A T 11: 72,603,071 (GRCm39) R33S probably benign Het
Ano5 T C 7: 51,235,079 (GRCm39) F671L probably damaging Het
Arhgap26 A G 18: 39,283,145 (GRCm39) M361V probably damaging Het
Bckdk A G 7: 127,505,145 (GRCm39) E175G probably damaging Het
Bptf G T 11: 106,964,022 (GRCm39) T1724K probably damaging Het
Btn2a2 T A 13: 23,670,398 (GRCm39) I112F probably damaging Het
Cln8 T A 8: 14,946,621 (GRCm39) W212R probably damaging Het
Cnbd1 T C 4: 18,886,119 (GRCm39) E300G probably benign Het
Cnksr3 T C 10: 7,092,993 (GRCm39) I173V probably benign Het
Cntn2 T A 1: 132,451,170 (GRCm39) D484V probably damaging Het
Cyp4a14 C A 4: 115,348,607 (GRCm39) G319V probably damaging Het
Cyp4f37 G A 17: 32,848,957 (GRCm39) R275Q possibly damaging Het
Def8 C T 8: 124,186,809 (GRCm39) probably benign Het
Dnaaf4 T C 9: 72,879,280 (GRCm39) V356A probably damaging Het
Dnah10 T C 5: 124,868,855 (GRCm39) probably null Het
Dock6 A G 9: 21,735,712 (GRCm39) V1012A probably benign Het
Dus3l T A 17: 57,076,579 (GRCm39) N586K probably damaging Het
Dyrk2 T A 10: 118,696,173 (GRCm39) I362F probably damaging Het
Eeig2 A T 3: 108,887,468 (GRCm39) S265R probably benign Het
Erc2 T A 14: 27,498,815 (GRCm39) D230E probably damaging Het
Fat1 A G 8: 45,497,073 (GRCm39) H4186R probably benign Het
Fbxo44 A G 4: 148,241,052 (GRCm39) F179S probably damaging Het
Fech A G 18: 64,611,720 (GRCm39) probably null Het
Fer1l5 T A 1: 36,424,254 (GRCm39) C289* probably null Het
Fhl5 T A 4: 25,214,756 (GRCm39) D7V probably benign Het
Flvcr1 G T 1: 190,741,748 (GRCm39) T514K probably damaging Het
Fmo1 A T 1: 162,667,185 (GRCm39) probably null Het
Gabra6 G A 11: 42,198,268 (GRCm39) T384M probably benign Het
Gli3 A G 13: 15,723,210 (GRCm39) Y117C probably damaging Het
Gnao1 A G 8: 94,622,873 (GRCm39) D59G probably benign Het
Gria2 T C 3: 80,614,556 (GRCm39) I495V possibly damaging Het
Hnf1b C A 11: 83,754,811 (GRCm39) H161Q probably benign Het
Itga8 T A 2: 12,235,019 (GRCm39) D413V possibly damaging Het
Itpr3 A T 17: 27,329,895 (GRCm39) Q1563L possibly damaging Het
Kctd16 A G 18: 40,663,882 (GRCm39) N337S probably benign Het
Klra4 C T 6: 130,030,016 (GRCm39) V190M possibly damaging Het
Krtap4-9 T A 11: 99,676,462 (GRCm39) probably benign Het
L3mbtl1 GGCCG GG 2: 162,809,256 (GRCm39) probably benign Het
Mchr1 T C 15: 81,122,044 (GRCm39) F265L probably damaging Het
Megf8 T A 7: 25,025,866 (GRCm39) Y83* probably null Het
Mettl18 A G 1: 163,824,746 (GRCm39) M356V probably null Het
Mrm1 G A 11: 84,710,018 (GRCm39) R61W probably damaging Het
Muc4 A T 16: 32,570,523 (GRCm39) T528S probably benign Het
Myef2 A T 2: 124,937,651 (GRCm39) L530* probably null Het
Nhlrc4 T C 17: 26,162,693 (GRCm39) E18G probably benign Het
Nisch C T 14: 30,895,102 (GRCm39) V1065I probably benign Het
Nlgn2 C T 11: 69,724,975 (GRCm39) R97H probably damaging Het
Nos2 T C 11: 78,828,741 (GRCm39) L321S probably damaging Het
Oaz3 T C 3: 94,343,717 (GRCm39) M49V possibly damaging Het
Olfm5 A G 7: 103,803,362 (GRCm39) V367A probably damaging Het
Omd C T 13: 49,743,112 (GRCm39) P54L possibly damaging Het
Or10ak12 C T 4: 118,666,575 (GRCm39) R162H probably benign Het
Or11g26 C A 14: 50,753,249 (GRCm39) A196D probably benign Het
Or2g7 C A 17: 38,378,641 (GRCm39) A193D probably benign Het
Or51f23 A T 7: 102,453,481 (GRCm39) R265S probably damaging Het
Or7d10 A G 9: 19,832,206 (GRCm39) K234E probably damaging Het
Pard3b T A 1: 61,807,289 (GRCm39) probably benign Het
Pcdhb18 A C 18: 37,624,988 (GRCm39) I773L possibly damaging Het
Pde11a T C 2: 75,970,175 (GRCm39) probably null Het
Pfkfb4 A C 9: 108,859,462 (GRCm39) probably benign Het
Phb2 T G 6: 124,692,612 (GRCm39) I260S probably damaging Het
Pkd1l1 G A 11: 8,908,969 (GRCm39) T345I unknown Het
Pla2g6 T C 15: 79,187,728 (GRCm39) probably benign Het
Pou4f2 G A 8: 79,163,020 (GRCm39) S5F unknown Het
Ppp1r9a A T 6: 5,157,002 (GRCm39) probably null Het
Pramel5 A G 4: 143,999,553 (GRCm39) I178T probably benign Het
Prom2 C T 2: 127,372,053 (GRCm39) W745* probably null Het
Pros1 T A 16: 62,748,424 (GRCm39) N632K probably damaging Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rbm25 T A 12: 83,724,640 (GRCm39) H796Q possibly damaging Het
Rnf151 A T 17: 24,937,004 (GRCm39) probably null Het
Rps6ka1 A T 4: 133,598,882 (GRCm39) L97I probably damaging Het
Scart1 C T 7: 139,810,359 (GRCm39) P984S probably benign Het
Semp2l2a T A 8: 13,887,263 (GRCm39) D276V probably benign Het
Sergef T A 7: 46,092,888 (GRCm39) T374S probably benign Het
Sh3rf3 G T 10: 58,966,808 (GRCm39) G717C probably damaging Het
Slc29a4 C T 5: 142,707,157 (GRCm39) T500I possibly damaging Het
Smc1b T A 15: 84,970,322 (GRCm39) D977V probably damaging Het
Spata31d1d C T 13: 59,874,829 (GRCm39) C902Y probably benign Het
Stat3 A T 11: 100,784,496 (GRCm39) I602N possibly damaging Het
Stx4a T A 7: 127,445,661 (GRCm39) I189N probably damaging Het
Tacc1 A G 8: 25,672,215 (GRCm39) S338P probably benign Het
Tcirg1 T A 19: 3,952,424 (GRCm39) T315S possibly damaging Het
Tenm4 A T 7: 96,503,926 (GRCm39) N1295I probably damaging Het
Tm7sf3 T C 6: 146,505,409 (GRCm39) K516E possibly damaging Het
Tmem198b T C 10: 128,637,323 (GRCm39) E272G possibly damaging Het
Tnip3 A G 6: 65,582,937 (GRCm39) Q237R probably damaging Het
Trim15 C T 17: 37,173,252 (GRCm39) probably null Het
Trim30a T A 7: 104,070,657 (GRCm39) N252I possibly damaging Het
Ttc39a A G 4: 109,288,075 (GRCm39) E227G probably benign Het
Ttll13 A G 7: 79,902,914 (GRCm39) E194G probably damaging Het
Upf1 G A 8: 70,796,912 (GRCm39) T107I probably benign Het
Vac14 A G 8: 111,436,981 (GRCm39) I565V probably damaging Het
Zcchc14 A T 8: 122,338,097 (GRCm39) probably benign 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
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
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'- CTGTCTACAGAAAGGCCAGTC -3'
(R):5'- TGAAGGCCTTTTCCACCCTG -3'

Sequencing Primer
(F):5'- AGTCTGCCAACCTCCTGAG -3'
(R):5'- GTGTTCAGGTCCAGGGTTAGGAG -3'
Posted On 2017-02-28