Incidental Mutation 'R1435:Tmprss15'
| ID |
159482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| MMRRC Submission |
039490-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1435 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78818342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 544
(N544K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023566]
[ENSMUST00000060402]
|
| AlphaFold |
P97435 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023566
AA Change: N544K
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: N544K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
SEA
|
52 |
172 |
1.62e-22 |
SMART |
|
LDLa
|
228 |
268 |
1.74e-4 |
SMART |
|
CUB
|
270 |
379 |
1.54e-11 |
SMART |
|
MAM
|
387 |
549 |
7.33e-54 |
SMART |
|
low complexity region
|
551 |
567 |
N/A |
INTRINSIC |
|
CUB
|
569 |
679 |
1.72e-32 |
SMART |
|
LDLa
|
687 |
724 |
7.32e-12 |
SMART |
|
SR
|
723 |
813 |
3.12e-5 |
SMART |
|
Tryp_SPc
|
829 |
1064 |
1.48e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060402
AA Change: N529K
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: N529K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
SEA
|
52 |
172 |
1.62e-22 |
SMART |
|
LDLa
|
213 |
253 |
1.74e-4 |
SMART |
|
CUB
|
255 |
364 |
1.54e-11 |
SMART |
|
MAM
|
372 |
534 |
7.33e-54 |
SMART |
|
low complexity region
|
536 |
552 |
N/A |
INTRINSIC |
|
CUB
|
554 |
664 |
1.72e-32 |
SMART |
|
LDLa
|
672 |
709 |
7.32e-12 |
SMART |
|
SR
|
708 |
798 |
3.12e-5 |
SMART |
|
Tryp_SPc
|
814 |
1049 |
1.48e-95 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.0%
- 20x: 81.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an enzyme that proteolytically activates the pancreatic proenzyme trypsinogen, converting it into trypsin. The encoded protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
G |
11: 69,905,642 (GRCm39) |
T62P |
probably benign |
Het |
| Amz1 |
A |
T |
5: 140,733,921 (GRCm39) |
N166Y |
probably damaging |
Het |
| Anxa6 |
T |
C |
11: 54,882,236 (GRCm39) |
Q518R |
probably benign |
Het |
| Aox3 |
G |
A |
1: 58,202,605 (GRCm39) |
|
probably null |
Het |
| Arid1a |
C |
T |
4: 133,408,009 (GRCm39) |
R2166Q |
unknown |
Het |
| Asb4 |
T |
G |
6: 5,398,410 (GRCm39) |
I125S |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| Atxn3 |
A |
G |
12: 101,908,460 (GRCm39) |
F131L |
probably benign |
Het |
| B3gnt5 |
T |
A |
16: 19,587,924 (GRCm39) |
Y48N |
probably damaging |
Het |
| Bglap3 |
A |
G |
3: 88,276,453 (GRCm39) |
M35T |
possibly damaging |
Het |
| Cabp1 |
A |
T |
5: 115,311,267 (GRCm39) |
D79E |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,822,070 (GRCm39) |
Q1155L |
probably benign |
Het |
| Chd2 |
C |
T |
7: 73,102,884 (GRCm39) |
R1367Q |
probably damaging |
Het |
| Clec5a |
T |
A |
6: 40,561,358 (GRCm39) |
Q29L |
probably damaging |
Het |
| Cmtr2 |
T |
C |
8: 110,947,711 (GRCm39) |
L7P |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 18,907,026 (GRCm39) |
I183V |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,792,341 (GRCm39) |
G1297D |
unknown |
Het |
| Csnk1g3 |
G |
A |
18: 54,039,746 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
A |
T |
4: 115,463,863 (GRCm39) |
N134I |
probably damaging |
Het |
| Cyp4f16 |
CTATG |
CTATGTATG |
17: 32,769,708 (GRCm39) |
|
probably null |
Het |
| Dst |
G |
A |
1: 34,153,026 (GRCm39) |
V56M |
probably damaging |
Het |
| Engase |
A |
T |
11: 118,375,727 (GRCm39) |
T32S |
probably damaging |
Het |
| Fam117b |
T |
C |
1: 60,008,222 (GRCm39) |
I352T |
possibly damaging |
Het |
| Golga4 |
C |
A |
9: 118,364,508 (GRCm39) |
D290E |
probably benign |
Het |
| Gtf2a1l |
C |
A |
17: 89,001,743 (GRCm39) |
H153N |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,311,519 (GRCm39) |
T1253N |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,750,714 (GRCm39) |
S398G |
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,144,459 (GRCm39) |
F49I |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,649,006 (GRCm39) |
S808P |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,922,776 (GRCm39) |
L289P |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,563,943 (GRCm39) |
D358E |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,970,411 (GRCm39) |
W832R |
probably damaging |
Het |
| Mfsd4a |
G |
T |
1: 131,995,494 (GRCm39) |
T46K |
probably damaging |
Het |
| N4bp3 |
G |
A |
11: 51,535,167 (GRCm39) |
R341W |
probably damaging |
Het |
| Odad2 |
T |
A |
18: 7,222,646 (GRCm39) |
H541L |
probably benign |
Het |
| Or51f2 |
T |
C |
7: 102,526,974 (GRCm39) |
S216P |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,209 (GRCm39) |
H220Q |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,536,039 (GRCm39) |
L1353S |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,541,246 (GRCm39) |
C844* |
probably null |
Het |
| Pdk2 |
T |
C |
11: 94,922,721 (GRCm39) |
Y153C |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,926,075 (GRCm39) |
V292A |
probably benign |
Het |
| Pex14 |
T |
C |
4: 149,047,984 (GRCm39) |
T198A |
probably benign |
Het |
| Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
| Pnpla2 |
G |
A |
7: 141,037,324 (GRCm39) |
R109H |
probably benign |
Het |
| Polh |
G |
A |
17: 46,505,181 (GRCm39) |
T145I |
probably damaging |
Het |
| Polr3d |
A |
T |
14: 70,677,479 (GRCm39) |
V299E |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,540,011 (GRCm39) |
T586M |
probably benign |
Het |
| Rbm20 |
T |
A |
19: 53,802,588 (GRCm39) |
F365L |
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,227,580 (GRCm39) |
T209A |
probably benign |
Het |
| Rnf213 |
G |
T |
11: 119,326,831 (GRCm39) |
C1606F |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,195,464 (GRCm39) |
V758A |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,463,603 (GRCm39) |
M451K |
probably damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,803,265 (GRCm39) |
S359P |
probably damaging |
Het |
| Slc45a1 |
G |
T |
4: 150,728,505 (GRCm39) |
F99L |
probably damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,500 (GRCm39) |
N754K |
possibly damaging |
Het |
| Taf4b |
A |
T |
18: 14,940,466 (GRCm39) |
Q315L |
probably damaging |
Het |
| Tcstv2a |
T |
A |
13: 120,725,524 (GRCm39) |
W63R |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,085,358 (GRCm39) |
I283V |
probably benign |
Het |
| Tnfsf14 |
T |
A |
17: 57,497,605 (GRCm39) |
E209V |
possibly damaging |
Het |
| Uckl1 |
T |
G |
2: 181,214,926 (GRCm39) |
S283R |
probably benign |
Het |
| Ush1g |
T |
C |
11: 115,209,294 (GRCm39) |
D300G |
probably damaging |
Het |
| Virma |
C |
T |
4: 11,528,621 (GRCm39) |
A1286V |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,629 (GRCm39) |
M261K |
possibly damaging |
Het |
| Vwf |
A |
T |
6: 125,619,212 (GRCm39) |
K1297* |
probably null |
Het |
| Zdbf2 |
G |
A |
1: 63,342,199 (GRCm39) |
E193K |
possibly damaging |
Het |
| Zfp759 |
T |
G |
13: 67,286,830 (GRCm39) |
I127S |
possibly damaging |
Het |
|
| Other mutations in Tmprss15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Tmprss15
|
APN |
16 |
78,782,882 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL00477:Tmprss15
|
APN |
16 |
78,818,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Tmprss15
|
APN |
16 |
78,868,149 (GRCm39) |
missense |
probably benign |
|
|
IGL01896:Tmprss15
|
APN |
16 |
78,887,678 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02052:Tmprss15
|
APN |
16 |
78,884,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Tmprss15
|
APN |
16 |
78,832,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02505:Tmprss15
|
APN |
16 |
78,784,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02632:Tmprss15
|
APN |
16 |
78,782,790 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02674:Tmprss15
|
APN |
16 |
78,798,682 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
beached
|
UTSW |
16 |
78,821,736 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Cellulite
|
UTSW |
16 |
78,754,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
lolling
|
UTSW |
16 |
78,800,298 (GRCm39) |
missense |
probably benign |
0.26 |
|
miniature
|
UTSW |
16 |
78,854,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT1430001:Tmprss15
|
UTSW |
16 |
78,821,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0106:Tmprss15
|
UTSW |
16 |
78,800,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0106:Tmprss15
|
UTSW |
16 |
78,800,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0195:Tmprss15
|
UTSW |
16 |
78,831,222 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0335:Tmprss15
|
UTSW |
16 |
78,821,630 (GRCm39) |
splice site |
probably benign |
|
|
R0514:Tmprss15
|
UTSW |
16 |
78,765,155 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0552:Tmprss15
|
UTSW |
16 |
78,821,637 (GRCm39) |
splice site |
probably null |
|
|
R0675:Tmprss15
|
UTSW |
16 |
78,782,838 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0739:Tmprss15
|
UTSW |
16 |
78,821,736 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1446:Tmprss15
|
UTSW |
16 |
78,875,846 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1572:Tmprss15
|
UTSW |
16 |
78,887,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1708:Tmprss15
|
UTSW |
16 |
78,850,958 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1893:Tmprss15
|
UTSW |
16 |
78,868,306 (GRCm39) |
missense |
probably benign |
|
|
R2403:Tmprss15
|
UTSW |
16 |
78,854,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2866:Tmprss15
|
UTSW |
16 |
78,832,121 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2913:Tmprss15
|
UTSW |
16 |
78,759,078 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2914:Tmprss15
|
UTSW |
16 |
78,759,078 (GRCm39) |
missense |
probably benign |
0.45 |
|
R3425:Tmprss15
|
UTSW |
16 |
78,800,321 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3703:Tmprss15
|
UTSW |
16 |
78,851,030 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3916:Tmprss15
|
UTSW |
16 |
78,782,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Tmprss15
|
UTSW |
16 |
78,870,074 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4332:Tmprss15
|
UTSW |
16 |
78,831,222 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4392:Tmprss15
|
UTSW |
16 |
78,821,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Tmprss15
|
UTSW |
16 |
78,754,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4619:Tmprss15
|
UTSW |
16 |
78,818,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Tmprss15
|
UTSW |
16 |
78,818,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Tmprss15
|
UTSW |
16 |
78,851,012 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4853:Tmprss15
|
UTSW |
16 |
78,757,479 (GRCm39) |
missense |
probably benign |
|
|
R5159:Tmprss15
|
UTSW |
16 |
78,800,298 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5441:Tmprss15
|
UTSW |
16 |
78,868,335 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5824:Tmprss15
|
UTSW |
16 |
78,831,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5970:Tmprss15
|
UTSW |
16 |
78,854,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6224:Tmprss15
|
UTSW |
16 |
78,821,266 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6257:Tmprss15
|
UTSW |
16 |
78,769,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Tmprss15
|
UTSW |
16 |
78,759,058 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6368:Tmprss15
|
UTSW |
16 |
78,802,945 (GRCm39) |
splice site |
probably null |
|
|
R6525:Tmprss15
|
UTSW |
16 |
78,800,266 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6587:Tmprss15
|
UTSW |
16 |
78,868,317 (GRCm39) |
missense |
probably benign |
|
|
R6894:Tmprss15
|
UTSW |
16 |
78,872,702 (GRCm39) |
nonsense |
probably null |
|
|
R7018:Tmprss15
|
UTSW |
16 |
78,821,741 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7180:Tmprss15
|
UTSW |
16 |
78,764,886 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7324:Tmprss15
|
UTSW |
16 |
78,758,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7337:Tmprss15
|
UTSW |
16 |
78,868,164 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7558:Tmprss15
|
UTSW |
16 |
78,800,302 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7732:Tmprss15
|
UTSW |
16 |
78,800,308 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7792:Tmprss15
|
UTSW |
16 |
78,800,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7829:Tmprss15
|
UTSW |
16 |
78,784,538 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7998:Tmprss15
|
UTSW |
16 |
78,798,731 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8009:Tmprss15
|
UTSW |
16 |
78,887,751 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8145:Tmprss15
|
UTSW |
16 |
78,757,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Tmprss15
|
UTSW |
16 |
78,884,400 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8221:Tmprss15
|
UTSW |
16 |
78,821,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8294:Tmprss15
|
UTSW |
16 |
78,868,176 (GRCm39) |
missense |
probably benign |
|
|
R8537:Tmprss15
|
UTSW |
16 |
78,884,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8735:Tmprss15
|
UTSW |
16 |
78,798,702 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8858:Tmprss15
|
UTSW |
16 |
78,854,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8869:Tmprss15
|
UTSW |
16 |
78,750,834 (GRCm39) |
nonsense |
probably null |
|
|
R8884:Tmprss15
|
UTSW |
16 |
78,821,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9014:Tmprss15
|
UTSW |
16 |
78,872,691 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9075:Tmprss15
|
UTSW |
16 |
78,754,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9351:Tmprss15
|
UTSW |
16 |
78,832,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Tmprss15
|
UTSW |
16 |
78,754,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9747:Tmprss15
|
UTSW |
16 |
78,884,400 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9767:Tmprss15
|
UTSW |
16 |
78,875,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9783:Tmprss15
|
UTSW |
16 |
78,887,890 (GRCm39) |
start gained |
probably benign |
|
|
RF005:Tmprss15
|
UTSW |
16 |
78,750,689 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCTTGGATACGGATAAGACGAGTC -3'
(R):5'- AGCCTCAAAGGAACTTACAATGGGTG -3'
Sequencing Primer
(F):5'- TACTGAGCCATCATTTCAGGAGG -3'
(R):5'- ATGCAGCATGTATGCATGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation