Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02588:St14'

299641

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

St14

Ensembl Gene

ENSMUSG00000031995

Gene Name

suppression of tumorigenicity 14 (colon carcinoma)

Synonyms

MT-SP1, matriptase, Tmprss14, Prss14, Epithin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02588

Quality Score

Status

Chromosome

Chromosomal Location

31089402-31131853 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 31090033 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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	A	12: 52,886,499	W258*	probably null	Het
Ankmy2	T	C	12: 36,176,686		probably benign	Het
Arhgap26	G	T	18: 38,601,617		probably benign	Het
Aspscr1	A	G	11: 120,677,531	D60G	possibly damaging	Het
Cdh15	C	A	8: 122,856,552	Y31*	probably null	Het
Cnih3	A	G	1: 181,409,704	R76G	probably benign	Het
Cplx1	C	A	5: 108,525,423	R44L	possibly damaging	Het
Dhx57	T	A	17: 80,268,871	I597F	probably damaging	Het
Dnah17	G	T	11: 118,025,653	F4231L	possibly damaging	Het
Dst	T	G	1: 34,117,484	L173R	probably damaging	Het
Fam84b	T	C	15: 60,823,150	D249G	probably damaging	Het
Fezf2	A	T	14: 12,343,687	Y353N	probably damaging	Het
Ghrhr	T	A	6: 55,383,410	L247Q	probably damaging	Het
Gm10912	C	T	2: 104,066,852		probably benign	Het
Gpcpd1	A	T	2: 132,534,753	L541H	probably damaging	Het
Gpld1	C	T	13: 24,943,699	T28I	probably damaging	Het
Lmf2	A	T	15: 89,355,406		probably null	Het
Mex3c	A	G	18: 73,590,045	N403S	probably damaging	Het
Nlrp1b	A	T	11: 71,182,279	L246*	probably null	Het
Nlrp2	A	T	7: 5,327,552	L615*	probably null	Het
Nlrp4c	A	T	7: 6,084,648	D760V	probably benign	Het
Nlrp4g	T	C	9: 124,348,843		noncoding transcript	Het
Nr2f1	C	A	13: 78,195,156		probably benign	Het
Nuggc	T	A	14: 65,617,777		probably benign	Het
Olfr1228	T	C	2: 89,249,698		probably benign	Het
Olfr646	C	T	7: 104,107,053	T258I	possibly damaging	Het
Papolg	T	A	11: 23,890,252	I75F	probably damaging	Het
Pcdhgc5	A	G	18: 37,821,950	Y759C	probably damaging	Het
Pdp2	A	G	8: 104,594,904	K462E	possibly damaging	Het
Plod1	A	T	4: 147,913,290	L654*	probably null	Het
Ppp4r3b	G	T	11: 29,198,853	G25*	probably null	Het
Ptch1	T	C	13: 63,511,918	D1307G	probably benign	Het
Ranbp17	A	G	11: 33,217,361	V1034A	probably benign	Het
Rbl2	T	A	8: 91,087,084	L319Q	probably damaging	Het
Retnlg	A	G	16: 48,872,892	T11A	probably benign	Het
Rfc3	A	T	5: 151,642,916	F356Y	possibly damaging	Het
Rnf213	G	T	11: 119,416,536	C674F	probably benign	Het
Shcbp1l	A	G	1: 153,428,665	K157E	probably benign	Het
Slc22a17	A	G	14: 54,907,994	C233R	probably damaging	Het
Slc38a9	A	G	13: 112,697,977		probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Sympk	G	A	7: 19,042,625	V481M	probably benign	Het
Timeless	T	A	10: 128,243,334	L350Q	probably damaging	Het
Tnfrsf1a	A	G	6: 125,360,766	I229V	probably benign	Het
Ugt3a2	A	T	15: 9,361,456	H106L	probably benign	Het
Zbtb45	A	T	7: 13,006,277	C470*	probably null	Het

Other mutations in St14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:St14	APN	9	31103779	missense	probably damaging	1.00
IGL01443:St14	APN	9	31100193	nonsense	probably null
IGL01816:St14	APN	9	31108267	missense	possibly damaging	0.71
IGL02100:St14	APN	9	31100130	splice site	probably benign
IGL02494:St14	APN	9	31108645	missense	possibly damaging	0.47
IGL02663:St14	APN	9	31100382	splice site	probably null
IGL02711:St14	APN	9	31089900	missense	probably benign	0.05
IGL03130:St14	APN	9	31097071	critical splice donor site	probably null
IGL03296:St14	APN	9	31108712	missense	probably damaging	0.98
IGL03400:St14	APN	9	31096971	splice site	probably benign
R0101:St14	UTSW	9	31097107	missense	probably benign	0.23
R0225:St14	UTSW	9	31108284	critical splice acceptor site	probably null
R0335:St14	UTSW	9	31091324	splice site	probably benign
R0892:St14	UTSW	9	31100428	missense	probably benign	0.38
R1334:St14	UTSW	9	31108210	missense	probably damaging	1.00
R1487:St14	UTSW	9	31097180	missense	probably damaging	1.00
R1521:St14	UTSW	9	31108215	missense	probably benign	0.03
R1782:St14	UTSW	9	31100164	missense	probably damaging	1.00
R1920:St14	UTSW	9	31089870	missense	possibly damaging	0.94
R1921:St14	UTSW	9	31089870	missense	possibly damaging	0.94
R1922:St14	UTSW	9	31089870	missense	possibly damaging	0.94
R1933:St14	UTSW	9	31106212	missense	probably benign	0.00
R2070:St14	UTSW	9	31091373	missense	probably damaging	1.00
R2411:St14	UTSW	9	31108234	missense	probably benign	0.13
R4152:St14	UTSW	9	31090506	missense	probably benign	0.08
R4375:St14	UTSW	9	31090458	missense	probably benign	0.02
R4419:St14	UTSW	9	31096928	missense	probably damaging	1.00
R4747:St14	UTSW	9	31103757	missense	possibly damaging	0.78
R4791:St14	UTSW	9	31095622	missense	probably benign	0.27
R4915:St14	UTSW	9	31108664	nonsense	probably null
R5056:St14	UTSW	9	31097551	splice site	probably null
R5134:St14	UTSW	9	31095583	missense	probably benign	0.00
R5241:St14	UTSW	9	31100418	nonsense	probably null
R5325:St14	UTSW	9	31096978	splice site	probably null
R5644:St14	UTSW	9	31106510	missense	probably benign
R5828:St14	UTSW	9	31091507	missense	probably damaging	1.00
R5922:St14	UTSW	9	31129904	intron	probably benign
R5930:St14	UTSW	9	31103760	missense	probably damaging	1.00
R5963:St14	UTSW	9	31106557	intron	probably benign
R6911:St14	UTSW	9	31106785	missense	probably benign	0.00
R6937:St14	UTSW	9	31129660	splice site	probably null
R6986:St14	UTSW	9	31096549	missense	probably damaging	0.98
R7226:St14	UTSW	9	31100152	missense	possibly damaging	0.63
R7395:St14	UTSW	9	31096899	missense	probably benign	0.29
R7400:St14	UTSW	9	31108275	missense	probably benign	0.36
R8194:St14	UTSW	9	31131625	start codon destroyed	probably null	0.95
R8886:St14	UTSW	9	31097124	missense	possibly damaging	0.93
R9248:St14	UTSW	9	31091609	missense	probably damaging	1.00
R9440:St14	UTSW	9	31096549	missense	probably damaging	0.98
Z1177:St14	UTSW	9	31090507	missense	probably damaging	0.98

Posted On

2015-04-16