Incidental Mutation 'R4152:St14'
| ID |
314957 |
| 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 |
040996-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4152 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
31000698-31043149 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31001802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 768
(I768V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034478]
|
| AlphaFold |
P56677 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034478
AA Change: I768V
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000034478
Gene: ENSMUSG00000031995
AA Change: I768V
| 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
|
| Meta Mutation Damage Score |
0.2011 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (45/47) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
G |
11: 84,183,752 (GRCm39) |
M31R |
possibly damaging |
Het |
| Akap6 |
A |
C |
12: 53,187,190 (GRCm39) |
S1535R |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,127,765 (GRCm39) |
I137T |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,812,857 (GRCm39) |
S36G |
probably damaging |
Het |
| Clcn4 |
T |
C |
7: 7,297,833 (GRCm39) |
N67D |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,267,227 (GRCm39) |
|
probably null |
Het |
| Crem |
G |
T |
18: 3,288,055 (GRCm39) |
N179K |
probably damaging |
Het |
| Fam78b |
T |
C |
1: 166,906,369 (GRCm39) |
M176T |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,322 (GRCm39) |
H2036Q |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,751,413 (GRCm39) |
|
probably null |
Het |
| Gm6483 |
T |
C |
8: 19,737,926 (GRCm39) |
|
noncoding transcript |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,789,973 (GRCm39) |
F81S |
probably benign |
Het |
| Lpgat1 |
C |
A |
1: 191,451,600 (GRCm39) |
Y36* |
probably null |
Het |
| Mavs |
A |
G |
2: 131,088,528 (GRCm39) |
D444G |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
| Nemp2 |
A |
G |
1: 52,680,210 (GRCm39) |
S145G |
probably benign |
Het |
| Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
| Or7g20 |
T |
A |
9: 18,946,816 (GRCm39) |
Y132* |
probably null |
Het |
| Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,823,514 (GRCm39) |
C92* |
probably null |
Het |
| Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
| Phf3 |
C |
T |
1: 30,870,539 (GRCm39) |
V116I |
probably benign |
Het |
| Prl8a2 |
T |
C |
13: 27,534,985 (GRCm39) |
Y86H |
possibly damaging |
Het |
| Rab4b |
T |
C |
7: 26,875,551 (GRCm39) |
|
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,439,449 (GRCm39) |
|
probably benign |
Het |
| Sim1 |
G |
A |
10: 50,859,950 (GRCm39) |
C604Y |
probably damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,696 (GRCm39) |
L251* |
probably null |
Het |
| Slit3 |
A |
G |
11: 35,589,147 (GRCm39) |
N1234S |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
| Snx31 |
T |
C |
15: 36,525,785 (GRCm39) |
N305D |
probably benign |
Het |
| Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
| Tlr6 |
A |
C |
5: 65,110,555 (GRCm39) |
F784C |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,836,427 (GRCm39) |
V701A |
probably benign |
Het |
| Tspan15 |
A |
T |
10: 62,025,621 (GRCm39) |
M197K |
possibly damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vegfb |
T |
C |
19: 6,963,446 (GRCm39) |
Y106C |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,730 (GRCm39) |
Q588L |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,654,800 (GRCm39) |
D503G |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,488,913 (GRCm39) |
V161A |
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 |
|
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'- AAGCATGACTTCCCCAGGAC -3'
(R):5'- TACTGACCTATTTATGTGTCAGCC -3'
Sequencing Primer
(F):5'- AGCTCCGGCCTAGTTAGC -3'
(R):5'- CCGCAGGCTCTTGGGTTATTTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation