Mutagenetix > Incidental Mutation

Incidental Mutation 'R2070:St14'

227057

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

040075-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31000698-31043149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31002669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 745 (I745F)

Ref Sequence

ENSEMBL: ENSMUSP00000034478 (fasta)

Gene Model

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

AlphaFold

P56677

Predicted Effect

probably damaging
Transcript: ENSMUST00000034478
AA Change: I745F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034478
Gene: ENSMUSG00000031995
AA Change: I745F

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	G	11: 58,767,595 (GRCm39)	K31E	probably damaging	Het
Abcc10	G	C	17: 46,614,491 (GRCm39)	N1477K	probably benign	Het
Ablim2	G	A	5: 35,955,857 (GRCm39)	C24Y	probably damaging	Het
Ankle1	T	C	8: 71,861,988 (GRCm39)	F497S	probably damaging	Het
Armh3	G	T	19: 45,879,724 (GRCm39)	P543Q	probably damaging	Het
Ash1l	C	G	3: 88,873,510 (GRCm39)	P98A	probably damaging	Het
Atad5	A	T	11: 79,988,878 (GRCm39)		probably null	Het
B3gnt4	A	T	5: 123,649,433 (GRCm39)	H266L	probably benign	Het
Bmi1	A	G	2: 18,688,851 (GRCm39)	I207V	probably benign	Het
Bnip3l	A	G	14: 67,226,671 (GRCm39)	M174T	probably damaging	Het
Bora	T	C	14: 99,299,714 (GRCm39)	S229P	probably damaging	Het
Ccdc121	T	C	5: 31,644,727 (GRCm39)	V160A	possibly damaging	Het
Ccdc27	T	A	4: 154,126,270 (GRCm39)	N73I	unknown	Het
Cdc42bpg	T	A	19: 6,370,518 (GRCm39)	C1204S	probably damaging	Het
Cdsn	A	T	17: 35,865,591 (GRCm39)	D40V	probably damaging	Het
Cilp	T	A	9: 65,186,377 (GRCm39)	V824D	probably damaging	Het
Cmtr1	A	G	17: 29,913,757 (GRCm39)		probably null	Het
Cntnap1	A	G	11: 101,073,805 (GRCm39)	Y652C	probably damaging	Het
Col12a1	T	C	9: 79,554,978 (GRCm39)	I2033M	probably benign	Het
Cwh43	T	C	5: 73,578,860 (GRCm39)	L289P	probably damaging	Het
Ddhd1	T	C	14: 45,848,081 (GRCm39)	D529G	probably damaging	Het
Defb28	T	A	2: 152,362,064 (GRCm39)	S75T	probably benign	Het
Dennd2a	A	T	6: 39,442,053 (GRCm39)	V939D	probably damaging	Het
Dlg5	T	C	14: 24,186,703 (GRCm39)	R1866G	probably damaging	Het
Dsc1	C	T	18: 20,221,353 (GRCm39)		probably null	Het
Ecscr	T	G	18: 35,848,490 (GRCm39)	N184T	probably damaging	Het
Eif4ebp1	G	T	8: 27,763,372 (GRCm39)	R55L	probably damaging	Het
Eml1	G	T	12: 108,479,258 (GRCm39)	V344L	probably damaging	Het
Exoc2	G	T	13: 30,999,353 (GRCm39)	N901K	probably benign	Het
Fam161b	T	A	12: 84,403,202 (GRCm39)	I143F	probably benign	Het
Fam180a	A	G	6: 35,302,846 (GRCm39)	S2P	probably benign	Het
Fat3	T	A	9: 15,910,666 (GRCm39)	I1779F	probably benign	Het
Fat4	A	G	3: 39,064,804 (GRCm39)	K4920R	probably benign	Het
Fsip2	T	A	2: 82,806,699 (GRCm39)	V1006E	probably damaging	Het
Glcci1	A	G	6: 8,558,566 (GRCm39)	S30G	probably damaging	Het
Gm5414	A	T	15: 101,536,495 (GRCm39)	S43R	possibly damaging	Het
Hao1	T	C	2: 134,372,535 (GRCm39)	T158A	probably damaging	Het
Hic1	T	C	11: 75,059,885 (GRCm39)	H154R	possibly damaging	Het
Hmgxb3	T	C	18: 61,304,431 (GRCm39)	Y53C	probably damaging	Het
Ipmk	A	T	10: 71,208,579 (GRCm39)	K122*	probably null	Het
Jakmip2	T	C	18: 43,696,395 (GRCm39)	E518G	probably benign	Het
Kmt2e	A	G	5: 23,706,993 (GRCm39)	T1519A	probably benign	Het
Lfng	T	C	5: 140,598,350 (GRCm39)	I224T	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Map4k5	C	T	12: 69,863,111 (GRCm39)	V629I	probably damaging	Het
Med12l	A	G	3: 59,152,326 (GRCm39)	D1037G	probably damaging	Het
Morc1	C	T	16: 48,412,974 (GRCm39)	T705I	probably benign	Het
Mptx2	A	T	1: 173,102,145 (GRCm39)	Y181*	probably null	Het
Mrpl24	T	C	3: 87,830,374 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,089,266 (GRCm39)	E1132G	probably benign	Het
Nedd4l	T	G	18: 65,345,891 (GRCm39)	F814L	probably damaging	Het
Nmral1	T	A	16: 4,534,211 (GRCm39)	I77F	probably damaging	Het
Oit3	T	G	10: 59,266,835 (GRCm39)	I224L	probably benign	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pacs2	C	T	12: 113,024,731 (GRCm39)	T407I	probably damaging	Het
Pard6g	T	C	18: 80,160,940 (GRCm39)	I351T	probably benign	Het
Pdcl2	A	T	5: 76,472,838 (GRCm39)		probably null	Het
Pdzph1	T	C	17: 59,281,092 (GRCm39)	R397G	probably benign	Het
Phip	T	A	9: 82,757,352 (GRCm39)	I1607L	probably benign	Het
Plekhd1	C	A	12: 80,739,681 (GRCm39)	S10*	probably null	Het
Pramel24	T	G	4: 143,453,472 (GRCm39)	Y193*	probably null	Het
Prdm1	C	T	10: 44,317,408 (GRCm39)	D505N	possibly damaging	Het
Psmd13	T	C	7: 140,477,561 (GRCm39)	V320A	probably damaging	Het
Rbak	A	G	5: 143,162,339 (GRCm39)	L8P	probably damaging	Het
Rere	C	A	4: 150,699,047 (GRCm39)		probably benign	Het
Rint1	T	C	5: 24,015,927 (GRCm39)	S456P	possibly damaging	Het
Scn3a	T	C	2: 65,351,210 (GRCm39)	Q446R	possibly damaging	Het
Slitrk5	A	G	14: 111,917,621 (GRCm39)	Y415C	probably damaging	Het
Snrnp200	A	G	2: 127,054,323 (GRCm39)	E210G	possibly damaging	Het
Snrnp200	A	G	2: 127,079,803 (GRCm39)	T1891A	probably benign	Het
Sohlh2	A	G	3: 55,115,043 (GRCm39)	I343V	probably benign	Het
Spin1	T	C	13: 51,298,573 (GRCm39)		probably null	Het
Sv2a	G	A	3: 96,101,191 (GRCm39)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,654,950 (GRCm39)	G113C	probably damaging	Het
Tlcd3b	T	C	7: 126,419,012 (GRCm39)	L4P	probably benign	Het
Trp53	A	G	11: 69,480,458 (GRCm39)	D278G	probably damaging	Het
Ubxn7	T	A	16: 32,191,287 (GRCm39)	C160S	possibly damaging	Het
Uty	T	C	Y: 1,169,193 (GRCm39)	E414G	probably benign	Het
Wrap73	T	A	4: 154,233,200 (GRCm39)	S125T	possibly damaging	Het
Wwc2	T	C	8: 48,321,356 (GRCm39)	D586G	unknown	Het
Zfp106	T	C	2: 120,354,010 (GRCm39)	H1490R	probably benign	Het
Zswim5	T	C	4: 116,837,109 (GRCm39)	V731A	probably benign	Het
Zyg11b	G	C	4: 108,108,016 (GRCm39)	N463K	possibly damaging	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
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
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'- TGAGTAAACCACCAGCCCTG -3'
(R):5'- CAGACTACACGATGTGGACG -3'

Sequencing Primer
(F):5'- CTGATGCCAAGATGGACTCTG -3'
(R):5'- TACACGATGTGGACGGCCTTC -3'

Posted On

2014-09-17