Mutagenetix > Incidental Mutation

Incidental Mutation 'R0335:St14'

26199

Institutional Source

Beutler Lab

Gene Symbol

St14

Ensembl Gene

ENSMUSG00000031995

Gene Name

suppression of tumorigenicity 14 (colon carcinoma)

Synonyms

MT-SP1, matriptase, Tmprss14, Prss14, Epithin

MMRRC Submission

038544-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31089402-31131853 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 31091324 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034478]

AlphaFold

P56677

Predicted Effect

probably benign
Transcript: ENSMUST00000034478

SMART Domains

Protein: ENSMUSP00000034478
Gene: ENSMUSG00000031995

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.6%
20x: 87.5%

Validation Efficiency

100% (89/89)

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830406C13Rik	A	G	14: 12,301,266 (GRCm38)	E124G	possibly damaging	Het
4932438A13Rik	T	C	3: 36,969,152 (GRCm38)	V2210A	probably damaging	Het
Adamts12	G	T	15: 11,311,058 (GRCm38)	D1134Y	possibly damaging	Het
Add3	A	G	19: 53,236,828 (GRCm38)	T460A	probably benign	Het
Amer3	A	C	1: 34,579,300 (GRCm38)		probably benign	Het
Arhgap22	C	T	14: 33,359,108 (GRCm38)		probably benign	Het
Arhgap32	T	G	9: 32,259,760 (GRCm38)	S1279A	probably benign	Het
Bcas1	G	A	2: 170,418,681 (GRCm38)	T26M	probably damaging	Het
Begain	A	T	12: 109,038,934 (GRCm38)	F256I	probably damaging	Het
Cabin1	A	T	10: 75,657,049 (GRCm38)	I1804N	probably damaging	Het
Cad	G	A	5: 31,073,985 (GRCm38)		probably benign	Het
Carmil1	G	A	13: 24,073,983 (GRCm38)	S762L	probably damaging	Het
Ccdc93	T	A	1: 121,492,977 (GRCm38)	L529Q	probably damaging	Het
Cdh12	T	A	15: 21,578,549 (GRCm38)		probably null	Het
Clip2	T	A	5: 134,535,215 (GRCm38)		probably benign	Het
Cmip	T	C	8: 117,445,366 (GRCm38)	I480T	probably damaging	Het
Cnot1	A	T	8: 95,772,000 (GRCm38)	I203K	probably benign	Het
Col18a1	G	A	10: 77,059,363 (GRCm38)	P1155S	probably damaging	Het
Col1a2	T	A	6: 4,531,956 (GRCm38)		probably benign	Het
Crybg3	A	T	16: 59,544,140 (GRCm38)	L2373Q	probably damaging	Het
D130043K22Rik	A	T	13: 24,887,877 (GRCm38)	I935F	probably damaging	Het
Dapl1	T	A	2: 59,496,594 (GRCm38)	D61E	possibly damaging	Het
Def6	A	G	17: 28,228,069 (GRCm38)	D558G	possibly damaging	Het
Dnah6	T	C	6: 73,069,399 (GRCm38)		probably benign	Het
Dvl2	G	A	11: 70,001,035 (GRCm38)		probably benign	Het
Ecd	A	C	14: 20,320,734 (GRCm38)	V639G	probably benign	Het
Epg5	C	T	18: 77,986,472 (GRCm38)	T1350M	probably benign	Het
Erbb4	C	A	1: 68,259,259 (GRCm38)	M657I	probably benign	Het
Evi5	T	C	5: 107,812,411 (GRCm38)	R431G	probably benign	Het
Fbxo11	G	A	17: 88,015,613 (GRCm38)	A115V	possibly damaging	Het
Fgfr2	T	C	7: 130,196,249 (GRCm38)	T192A	probably benign	Het
Gas7	C	T	11: 67,662,052 (GRCm38)	A146V	possibly damaging	Het
Gatad2b	T	A	3: 90,356,182 (GRCm38)	S529T	probably benign	Het
Gm10722	G	T	9: 3,001,048 (GRCm38)	Q41H	probably null	Het
Gm10801	G	C	2: 98,664,007 (GRCm38)	R143T	possibly damaging	Het
Gm7535	A	G	17: 17,911,112 (GRCm38)		probably benign	Het
Gstm1	T	A	3: 108,012,696 (GRCm38)	N193I	possibly damaging	Het
Heatr5b	G	A	17: 78,827,946 (GRCm38)	P252L	probably benign	Het
Hmgb1	A	G	5: 149,050,631 (GRCm38)	V36A	probably benign	Het
Hrh1	G	T	6: 114,480,232 (GRCm38)	W158L	probably damaging	Het
Ighv6-4	T	C	12: 114,406,674 (GRCm38)	M53V	probably benign	Het
Iqgap2	T	A	13: 95,635,633 (GRCm38)	D1346V	probably damaging	Het
Kcng3	A	T	17: 83,587,737 (GRCm38)	N433K	possibly damaging	Het
Kif1a	T	A	1: 93,052,566 (GRCm38)		probably benign	Het
Lctl	C	A	9: 64,118,887 (GRCm38)	Q75K	probably benign	Het
Ldb3	T	A	14: 34,578,651 (GRCm38)	I89F	possibly damaging	Het
Lrrc49	A	T	9: 60,677,095 (GRCm38)	L156Q	probably damaging	Het
Mark2	G	T	19: 7,281,828 (GRCm38)	T83K	probably benign	Het
Ms4a15	A	T	19: 10,980,210 (GRCm38)	D170E	probably damaging	Het
Msantd2	A	G	9: 37,522,760 (GRCm38)	S99G	possibly damaging	Het
Nemf	G	T	12: 69,353,803 (GRCm38)	T124N	probably benign	Het
Nlrp9c	A	T	7: 26,394,136 (GRCm38)	F35I	possibly damaging	Het
Nwd2	A	G	5: 63,804,773 (GRCm38)	I567V	probably benign	Het
Olfr111	A	C	17: 37,530,642 (GRCm38)	I222L	probably benign	Het
Olfr1340	A	G	4: 118,727,170 (GRCm38)	I308V	probably null	Het
Olfr323	T	C	11: 58,625,740 (GRCm38)	Y102C	probably damaging	Het
Olfr828	T	A	9: 18,815,994 (GRCm38)	Q100L	probably damaging	Het
Optn	C	T	2: 5,024,115 (GRCm38)	G526R	probably damaging	Het
Pdk4	T	C	6: 5,491,138 (GRCm38)	E209G	probably benign	Het
Plch1	T	C	3: 63,710,978 (GRCm38)	Q712R	probably damaging	Het
Pnpla1	T	A	17: 28,886,878 (GRCm38)	V569E	possibly damaging	Het
Prkar2a	A	T	9: 108,719,258 (GRCm38)	D134V	probably damaging	Het
Ptov1	T	A	7: 44,864,622 (GRCm38)	Q40L	possibly damaging	Het
Ptprq	T	C	10: 107,708,728 (GRCm38)	I314V	probably benign	Het
Rabl2	T	C	15: 89,583,966 (GRCm38)	K66E	probably damaging	Het
Rnf38	A	G	4: 44,152,507 (GRCm38)	V19A	possibly damaging	Het
Scn2a	T	A	2: 65,682,091 (GRCm38)	W191R	probably damaging	Het
Sec22b	T	A	3: 97,921,256 (GRCm38)	F212I	possibly damaging	Het
Sec24c	T	A	14: 20,688,715 (GRCm38)		probably null	Het
Sept2	T	C	1: 93,495,599 (GRCm38)	S51P	probably damaging	Het
Serpinb1a	T	C	13: 32,848,656 (GRCm38)	N90S	probably damaging	Het
Slc1a2	C	T	2: 102,743,863 (GRCm38)	T206I	probably benign	Het
Slc25a19	C	A	11: 115,624,206 (GRCm38)	R42L	probably damaging	Het
Stxbp1	C	T	2: 32,802,905 (GRCm38)		probably benign	Het
Tas2r131	C	T	6: 132,957,829 (GRCm38)	V6I	probably benign	Het
Tdo2	T	A	3: 81,964,000 (GRCm38)	M235L	probably benign	Het
Tenm3	T	G	8: 48,232,105 (GRCm38)	H2432P	probably damaging	Het
Tmprss15	C	T	16: 79,024,742 (GRCm38)		probably benign	Het
Tmx1	A	G	12: 70,453,256 (GRCm38)	N30D	probably benign	Het
Tom1	A	G	8: 75,064,392 (GRCm38)		probably null	Het
Top2a	T	C	11: 99,022,955 (GRCm38)	N20S	probably benign	Het
Ttc23l	T	A	15: 10,539,963 (GRCm38)	T145S	probably benign	Het
Unc13b	T	A	4: 43,236,983 (GRCm38)	M3351K	possibly damaging	Het
Vmn1r47	T	C	6: 90,022,659 (GRCm38)	S258P	probably damaging	Het
Vmn2r8	T	G	5: 108,797,451 (GRCm38)		probably null	Het
Vps11	T	C	9: 44,353,838 (GRCm38)	Q641R	probably null	Het
Wapl	T	A	14: 34,692,324 (GRCm38)	I381N	probably damaging	Het
Zmym6	G	A	4: 127,122,808 (GRCm38)	G794E	probably damaging	Het

Other mutations in St14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:St14	APN	9	31,103,779 (GRCm38)	missense	probably damaging	1.00
IGL01443:St14	APN	9	31,100,193 (GRCm38)	nonsense	probably null
IGL01816:St14	APN	9	31,108,267 (GRCm38)	missense	possibly damaging	0.71
IGL02100:St14	APN	9	31,100,130 (GRCm38)	splice site	probably benign
IGL02494:St14	APN	9	31,108,645 (GRCm38)	missense	possibly damaging	0.47
IGL02588:St14	APN	9	31,090,033 (GRCm38)	splice site	probably benign
IGL02663:St14	APN	9	31,100,382 (GRCm38)	splice site	probably null
IGL02711:St14	APN	9	31,089,900 (GRCm38)	missense	probably benign	0.05
IGL03130:St14	APN	9	31,097,071 (GRCm38)	critical splice donor site	probably null
IGL03296:St14	APN	9	31,108,712 (GRCm38)	missense	probably damaging	0.98
IGL03400:St14	APN	9	31,096,971 (GRCm38)	splice site	probably benign
R0101:St14	UTSW	9	31,097,107 (GRCm38)	missense	probably benign	0.23
R0225:St14	UTSW	9	31,108,284 (GRCm38)	critical splice acceptor site	probably null
R0892:St14	UTSW	9	31,100,428 (GRCm38)	missense	probably benign	0.38
R1334:St14	UTSW	9	31,108,210 (GRCm38)	missense	probably damaging	1.00
R1487:St14	UTSW	9	31,097,180 (GRCm38)	missense	probably damaging	1.00
R1521:St14	UTSW	9	31,108,215 (GRCm38)	missense	probably benign	0.03
R1782:St14	UTSW	9	31,100,164 (GRCm38)	missense	probably damaging	1.00
R1920:St14	UTSW	9	31,089,870 (GRCm38)	missense	possibly damaging	0.94
R1921:St14	UTSW	9	31,089,870 (GRCm38)	missense	possibly damaging	0.94
R1922:St14	UTSW	9	31,089,870 (GRCm38)	missense	possibly damaging	0.94
R1933:St14	UTSW	9	31,106,212 (GRCm38)	missense	probably benign	0.00
R2070:St14	UTSW	9	31,091,373 (GRCm38)	missense	probably damaging	1.00
R2411:St14	UTSW	9	31,108,234 (GRCm38)	missense	probably benign	0.13
R4152:St14	UTSW	9	31,090,506 (GRCm38)	missense	probably benign	0.08
R4375:St14	UTSW	9	31,090,458 (GRCm38)	missense	probably benign	0.02
R4419:St14	UTSW	9	31,096,928 (GRCm38)	missense	probably damaging	1.00
R4747:St14	UTSW	9	31,103,757 (GRCm38)	missense	possibly damaging	0.78
R4791:St14	UTSW	9	31,095,622 (GRCm38)	missense	probably benign	0.27
R4915:St14	UTSW	9	31,108,664 (GRCm38)	nonsense	probably null
R5056:St14	UTSW	9	31,097,551 (GRCm38)	splice site	probably null
R5134:St14	UTSW	9	31,095,583 (GRCm38)	missense	probably benign	0.00
R5241:St14	UTSW	9	31,100,418 (GRCm38)	nonsense	probably null
R5325:St14	UTSW	9	31,096,978 (GRCm38)	splice site	probably null
R5644:St14	UTSW	9	31,106,510 (GRCm38)	missense	probably benign
R5828:St14	UTSW	9	31,091,507 (GRCm38)	missense	probably damaging	1.00
R5922:St14	UTSW	9	31,129,904 (GRCm38)	intron	probably benign
R5930:St14	UTSW	9	31,103,760 (GRCm38)	missense	probably damaging	1.00
R5963:St14	UTSW	9	31,106,557 (GRCm38)	intron	probably benign
R6911:St14	UTSW	9	31,106,785 (GRCm38)	missense	probably benign	0.00
R6937:St14	UTSW	9	31,129,660 (GRCm38)	splice site	probably null
R6986:St14	UTSW	9	31,096,549 (GRCm38)	missense	probably damaging	0.98
R7226:St14	UTSW	9	31,100,152 (GRCm38)	missense	possibly damaging	0.63
R7395:St14	UTSW	9	31,096,899 (GRCm38)	missense	probably benign	0.29
R7400:St14	UTSW	9	31,108,275 (GRCm38)	missense	probably benign	0.36
R8194:St14	UTSW	9	31,131,625 (GRCm38)	start codon destroyed	probably null	0.95
R8886:St14	UTSW	9	31,097,124 (GRCm38)	missense	possibly damaging	0.93
R9248:St14	UTSW	9	31,091,609 (GRCm38)	missense	probably damaging	1.00
R9440:St14	UTSW	9	31,096,549 (GRCm38)	missense	probably damaging	0.98
Z1177:St14	UTSW	9	31,090,507 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAGCTTCAATCAAGAGCCCAACCTG -3'
(R):5'- ATCACTGCCTGTGCGTTCATAGCC -3'

Sequencing Primer
(F):5'- CAGATCCTACACTTCTTATTAGGAGC -3'
(R):5'- ACAGACTTGTGACTGCTATGC -3'

Posted On

2013-04-16