Mutagenetix > Incidental Mutation

Incidental Mutation 'R5134:St14'

396047

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

042722-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5134 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31000698-31043149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 31006879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 649 (D649A)

Ref Sequence

ENSEMBL: ENSMUSP00000034478 (fasta)

Gene Model

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

AlphaFold

P56677

Predicted Effect

probably benign
Transcript: ENSMUST00000034478
AA Change: D649A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034478
Gene: ENSMUSG00000031995
AA Change: D649A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133904

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217404

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

96% (100/104)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	A	10: 77,161,679 (GRCm39)		probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arsj	A	G	3: 126,231,803 (GRCm39)	D183G	probably benign	Het
Atg2b	A	G	12: 105,641,209 (GRCm39)	S76P	probably damaging	Het
Atxn7l1	C	A	12: 33,422,875 (GRCm39)	N815K	probably damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cir1	G	A	2: 73,114,847 (GRCm39)	R404*	probably null	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Cstf2t	T	A	19: 31,061,494 (GRCm39)	D343E	probably damaging	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Dhx34	G	T	7: 15,952,175 (GRCm39)	A150D	possibly damaging	Het
Dnal4	A	T	15: 79,647,766 (GRCm39)	V32E	possibly damaging	Het
Dvl3	G	T	16: 20,343,357 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	C	T	15: 54,762,726 (GRCm39)	R174H	probably damaging	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	T	15: 58,512,003 (GRCm39)	D1490V	probably damaging	Het
Fsd1l	A	G	4: 53,647,766 (GRCm39)	K70E	probably benign	Het
Galnt12	G	A	4: 47,113,818 (GRCm39)	A79T	probably damaging	Het
Galnt17	A	T	5: 130,992,873 (GRCm39)	M347K	probably damaging	Het
Glyatl3	A	G	17: 41,215,921 (GRCm39)	V195A	probably benign	Het
Gm10770	A	T	2: 150,021,480 (GRCm39)		probably null	Het
Gm5578	A	T	6: 112,583,046 (GRCm39)		noncoding transcript	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Ighv1-50	T	G	12: 115,083,653 (GRCm39)	Q22H	probably benign	Het
Ipcef1	A	G	10: 6,869,950 (GRCm39)	I150T	probably benign	Het
Ipp	T	A	4: 116,372,654 (GRCm39)	F228I	possibly damaging	Het
Itgb7	A	G	15: 102,125,842 (GRCm39)	C596R	probably damaging	Het
Kif27	T	C	13: 58,438,904 (GRCm39)	D1219G	possibly damaging	Het
Lats1	T	A	10: 7,567,575 (GRCm39)	D115E	probably benign	Het
Lpcat3	A	G	6: 124,679,493 (GRCm39)	N331S	probably benign	Het
Lrpprc	A	T	17: 85,058,684 (GRCm39)	N725K	probably benign	Het
Lss	T	G	10: 76,382,070 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,747,515 (GRCm39)	Y450C	possibly damaging	Het
Mmp21	A	T	7: 133,280,742 (GRCm39)	V76E	probably benign	Het
Mtmr11	A	T	3: 96,077,223 (GRCm39)	Y527F	probably damaging	Het
Nat10	A	T	2: 103,573,638 (GRCm39)	F327I	probably benign	Het
Nfkbiz	A	T	16: 55,638,863 (GRCm39)	M199K	probably damaging	Het
Nuak1	A	G	10: 84,210,214 (GRCm39)	Y625H	probably benign	Het
Odf1	A	G	15: 38,226,393 (GRCm39)	T98A	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or10g3b	T	C	14: 52,587,248 (GRCm39)	N85S	probably benign	Het
Or1j4	A	T	2: 36,740,488 (GRCm39)	L143F	probably benign	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Osbpl8	T	A	10: 111,124,554 (GRCm39)	D705E	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Paics	T	C	5: 77,104,669 (GRCm39)		probably benign	Het
Pax5	A	G	4: 44,710,407 (GRCm39)	M1T	probably null	Het
Pck1	A	T	2: 172,995,282 (GRCm39)	N34I	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Piezo2	A	G	18: 63,207,691 (GRCm39)	V1440A	probably damaging	Het
Prr23a4	T	C	9: 98,785,793 (GRCm39)	S153P	probably benign	Het
Ptpre	T	A	7: 135,253,821 (GRCm39)	F83Y	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rassf6	T	A	5: 90,752,225 (GRCm39)		probably null	Het
Rilp	A	T	11: 75,403,534 (GRCm39)	L325F	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Rps6kc1	T	A	1: 190,505,845 (GRCm39)	D1039V	probably damaging	Het
Rufy3	G	A	5: 88,793,426 (GRCm39)	V579I	probably benign	Het
Serpinc1	A	G	1: 160,825,140 (GRCm39)		probably null	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Stab2	A	G	10: 86,707,674 (GRCm39)		probably null	Het
Sun3	T	C	11: 8,988,287 (GRCm39)	T12A	probably benign	Het
Tdrd6	A	G	17: 43,937,101 (GRCm39)	Y1316H	probably damaging	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Trav14-3	T	A	14: 54,000,701 (GRCm39)	S17T	unknown	Het
Trmu	T	A	15: 85,780,556 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Unc5b	A	T	10: 60,610,879 (GRCm39)	V376E	probably benign	Het
Usp3	T	C	9: 66,449,814 (GRCm39)	S166G	possibly damaging	Het
Vldlr	C	A	19: 27,216,212 (GRCm39)	C344*	probably null	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdfy3	A	C	5: 102,091,969 (GRCm39)	Y457D	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	Het
Zfp758	A	G	17: 22,594,386 (GRCm39)	K291E	probably damaging	Het
Zfp799	A	T	17: 33,039,415 (GRCm39)	C284S	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	Het

Other mutations in St14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- ACACAGTTGACCTGACTACAGAG -3'
(R):5'- AGCACCCCTTTGTTGTTGAG -3'

Sequencing Primer
(F):5'- CCTGGTCTACACAGTGAGTACTAG -3'
(R):5'- CCCTTTGTTGTTGAGTGGCTGTAC -3'

Posted On

2016-06-21