Incidental Mutation 'R9440:St14'
ID 713596
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9440 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 31000698-31043149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31007845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 578 (L578P)
Ref Sequence ENSEMBL: ENSMUSP00000034478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034478]
AlphaFold P56677
Predicted Effect probably damaging
Transcript: ENSMUST00000034478
AA Change: L578P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034478
Gene: ENSMUSG00000031995
AA Change: L578P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,499,452 (GRCm39) T1359M probably benign Het
Acacb T A 5: 114,384,085 (GRCm39) C2205S possibly damaging Het
Akap3 A G 6: 126,841,591 (GRCm39) E70G probably benign Het
Aldh1a3 C A 7: 66,068,992 (GRCm39) probably null Het
Asb4 A G 6: 5,429,817 (GRCm39) I352M probably benign Het
Bach1 C G 16: 87,516,603 (GRCm39) S381R probably benign Het
BC034090 A G 1: 155,101,961 (GRCm39) L101P probably benign Het
Bms1 A T 6: 118,382,217 (GRCm39) D440E probably benign Het
Bpifb6 A T 2: 153,747,914 (GRCm39) D191V probably benign Het
Cfap298 A T 16: 90,726,832 (GRCm39) V116E probably benign Het
Cfd T C 10: 79,726,816 (GRCm39) probably null Het
Cnot3 G A 7: 3,656,560 (GRCm39) E252K probably damaging Het
Col6a3 T C 1: 90,707,068 (GRCm39) D2622G unknown Het
Crybg2 T C 4: 133,801,602 (GRCm39) S612P probably benign Het
Cyp4b1 T C 4: 115,493,581 (GRCm39) K167R probably damaging Het
Gbp3 T C 3: 142,272,335 (GRCm39) V279A possibly damaging Het
Gipc2 T C 3: 151,833,706 (GRCm39) T192A possibly damaging Het
Gm3285 T C 10: 77,697,911 (GRCm39) V20A Het
Gorasp2 T C 2: 70,541,469 (GRCm39) probably null Het
Gpr179 A G 11: 97,229,315 (GRCm39) S947P probably benign Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lrch4 G A 5: 137,636,051 (GRCm39) R368Q probably damaging Het
Mamdc4 A G 2: 25,455,600 (GRCm39) V876A probably benign Het
Marf1 A C 16: 13,938,196 (GRCm39) D1433E probably benign Het
Mcm4 A T 16: 15,453,175 (GRCm39) C171* probably null Het
Micall1 C T 15: 79,011,159 (GRCm39) P510S Het
Morc3 A G 16: 93,649,975 (GRCm39) probably null Het
Mrpl28 G T 17: 26,345,266 (GRCm39) V229F possibly damaging Het
Mrps33 A T 6: 39,782,364 (GRCm39) Y52* probably null Het
Mybphl T C 3: 108,282,202 (GRCm39) I144T probably benign Het
Myom1 A G 17: 71,433,329 (GRCm39) M1657V probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,236,850 (GRCm39) probably benign Het
Or5p67 A G 7: 107,922,037 (GRCm39) I282T probably benign Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Plxna1 T C 6: 89,318,912 (GRCm39) K637R probably benign Het
Prob1 G T 18: 35,786,218 (GRCm39) L679I possibly damaging Het
Sgms2 C A 3: 131,118,718 (GRCm39) C255F probably damaging Het
Slc17a9 T C 2: 180,383,090 (GRCm39) C399R probably benign Het
Smc4 T A 3: 68,915,455 (GRCm39) probably null Het
Tcaf3 A T 6: 42,573,906 (GRCm39) L102* probably null Het
Tex15 A G 8: 34,072,273 (GRCm39) T2607A possibly damaging Het
Trav15-2-dv6-2 T A 14: 53,886,932 (GRCm39) probably benign Het
Trip4 T C 9: 65,760,234 (GRCm39) probably null Het
Ttf1 A G 2: 28,955,709 (GRCm39) I358V probably benign Het
Uroc1 C A 6: 90,322,353 (GRCm39) S292R possibly damaging Het
Vmn1r5 T C 6: 56,962,415 (GRCm39) I30T possibly damaging Het
Vps33a A T 5: 123,703,047 (GRCm39) I192N probably damaging Het
Vps50 A G 6: 3,516,724 (GRCm39) I69V probably benign Het
Wdr97 T C 15: 76,245,064 (GRCm39) S1176P Het
Xirp1 G A 9: 119,847,203 (GRCm39) T560M probably damaging Het
Zfp512 A T 5: 31,628,359 (GRCm39) T266S possibly 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
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
Z1177:St14 UTSW 9 31,001,803 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GACATACTGCCTTCCCACAG -3'
(R):5'- TAAGTCTGGGGAGAATCTTCCG -3'

Sequencing Primer
(F):5'- AGACAGATGTGCCCTCTGAGTG -3'
(R):5'- TGTGATGAATGGTGCCAG -3'
Posted On 2022-06-15