Incidental Mutation 'R6525:Tmprss15'
| ID |
521765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| MMRRC Submission |
044651-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6525 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78800266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 621
(I621F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023566]
[ENSMUST00000060402]
|
| AlphaFold |
P97435 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023566
AA Change: I621F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: I621F
| 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 |
possibly damaging
Transcript: ENSMUST00000060402
AA Change: I606F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: I606F
| 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 |
|
| Meta Mutation Damage Score |
0.2768 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.0%
|
| Validation Efficiency |
96% (71/74) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,931,308 (GRCm39) |
E1447G |
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,392,337 (GRCm39) |
N261S |
probably benign |
Het |
| Adcy8 |
C |
A |
15: 64,609,243 (GRCm39) |
G859* |
probably null |
Het |
| Agbl3 |
A |
T |
6: 34,780,529 (GRCm39) |
K496* |
probably null |
Het |
| Antxrl |
A |
T |
14: 33,782,363 (GRCm39) |
D182V |
probably damaging |
Het |
| Arid5b |
A |
G |
10: 67,933,496 (GRCm39) |
L559P |
possibly damaging |
Het |
| Azi2 |
T |
A |
9: 117,876,663 (GRCm39) |
S60T |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,176,048 (GRCm39) |
Y1931H |
probably damaging |
Het |
| Cnga1 |
T |
A |
5: 72,775,574 (GRCm39) |
E49V |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,386,339 (GRCm39) |
N160D |
possibly damaging |
Het |
| Crem |
C |
A |
18: 3,268,070 (GRCm39) |
R267L |
probably damaging |
Het |
| Ddx52 |
T |
C |
11: 83,844,145 (GRCm39) |
|
probably null |
Het |
| Ddx6 |
T |
C |
9: 44,534,926 (GRCm39) |
I127T |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,606,304 (GRCm39) |
Y2094N |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,202,216 (GRCm39) |
N181K |
probably damaging |
Het |
| Dusp7 |
A |
G |
9: 106,246,483 (GRCm39) |
K163E |
possibly damaging |
Het |
| Dynlt1a |
T |
A |
17: 6,362,014 (GRCm39) |
T55S |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,733,607 (GRCm39) |
N451S |
probably benign |
Het |
| Faap100 |
C |
A |
11: 120,269,590 (GRCm39) |
|
probably null |
Het |
| Fam53a |
T |
C |
5: 33,765,262 (GRCm39) |
N148S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,174,626 (GRCm39) |
D2029G |
probably damaging |
Het |
| Flcn |
A |
T |
11: 59,684,998 (GRCm39) |
N484K |
possibly damaging |
Het |
| Gbp10 |
T |
A |
5: 105,383,950 (GRCm39) |
E17D |
probably benign |
Het |
| Gm14226 |
T |
C |
2: 154,867,003 (GRCm39) |
V320A |
possibly damaging |
Het |
| Gna13 |
T |
C |
11: 109,286,765 (GRCm39) |
I196T |
probably damaging |
Het |
| Gorasp1 |
G |
T |
9: 119,757,061 (GRCm39) |
P374T |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,881,236 (GRCm39) |
D1461G |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,573,317 (GRCm39) |
N2111D |
probably damaging |
Het |
| Hs3st3b1 |
G |
A |
11: 63,812,424 (GRCm39) |
S97L |
probably benign |
Het |
| Hsdl2 |
A |
G |
4: 59,612,696 (GRCm39) |
T296A |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,025,512 (GRCm39) |
D48G |
probably damaging |
Het |
| Kbtbd12 |
A |
T |
6: 88,591,062 (GRCm39) |
N383K |
probably benign |
Het |
| Kcnj12 |
T |
G |
11: 60,960,397 (GRCm39) |
F232V |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Homo |
| Ldhb |
T |
C |
6: 142,436,191 (GRCm39) |
D326G |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,505,432 (GRCm39) |
L607S |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,217,074 (GRCm39) |
S388P |
probably damaging |
Het |
| Mansc4 |
A |
G |
6: 146,976,645 (GRCm39) |
S324P |
probably benign |
Het |
| Meltf |
G |
A |
16: 31,707,717 (GRCm39) |
W368* |
probably null |
Het |
| Nacad |
A |
G |
11: 6,552,255 (GRCm39) |
L312P |
probably damaging |
Het |
| Ndc1 |
G |
T |
4: 107,225,304 (GRCm39) |
G7W |
probably benign |
Het |
| Nmral1 |
T |
A |
16: 4,532,296 (GRCm39) |
K172* |
probably null |
Het |
| Nol9 |
G |
T |
4: 152,123,906 (GRCm39) |
R32L |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,403,912 (GRCm39) |
Y296C |
probably damaging |
Het |
| Or4k51 |
C |
T |
2: 111,585,329 (GRCm39) |
T245I |
probably benign |
Het |
| Oscp1 |
A |
G |
4: 125,970,571 (GRCm39) |
D120G |
possibly damaging |
Het |
| Parp14 |
C |
T |
16: 35,680,811 (GRCm39) |
C274Y |
probably benign |
Het |
| Pced1b |
T |
A |
15: 97,282,679 (GRCm39) |
H239Q |
possibly damaging |
Het |
| Pgap1 |
T |
C |
1: 54,521,048 (GRCm39) |
I865V |
probably benign |
Het |
| Ppp6r3 |
T |
A |
19: 3,543,936 (GRCm39) |
S360C |
probably damaging |
Het |
| Prb1a |
A |
G |
6: 132,184,467 (GRCm39) |
S389P |
unknown |
Het |
| Prr16 |
T |
G |
18: 51,436,227 (GRCm39) |
S235R |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,646,527 (GRCm39) |
N183S |
probably benign |
Het |
| Rcn1 |
A |
G |
2: 105,219,320 (GRCm39) |
|
probably null |
Het |
| Rimkla |
C |
A |
4: 119,325,288 (GRCm39) |
A374S |
probably benign |
Het |
| Skint8 |
A |
T |
4: 111,785,935 (GRCm39) |
D127V |
probably damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,182,796 (GRCm39) |
K724E |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,248,667 (GRCm39) |
N537S |
unknown |
Het |
| Slc26a5 |
T |
C |
5: 22,025,348 (GRCm39) |
D457G |
possibly damaging |
Het |
| Slx4ip |
T |
C |
2: 136,842,138 (GRCm39) |
V21A |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,087,626 (GRCm39) |
Y291H |
probably damaging |
Het |
| Syn3 |
G |
A |
10: 86,302,916 (GRCm39) |
P80S |
probably damaging |
Het |
| Tasor2 |
G |
A |
13: 3,626,540 (GRCm39) |
Q455* |
probably null |
Het |
| Tiam1 |
A |
T |
16: 89,655,485 (GRCm39) |
|
probably null |
Het |
| Tjp1 |
T |
C |
7: 64,993,399 (GRCm39) |
D58G |
probably damaging |
Het |
| Tns1 |
C |
T |
1: 73,992,629 (GRCm39) |
S683N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,436 (GRCm39) |
L2322P |
probably damaging |
Het |
| Ugdh |
G |
T |
5: 65,574,402 (GRCm39) |
H409N |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,129,560 (GRCm39) |
M817K |
probably benign |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Zbtb34 |
A |
G |
2: 33,302,145 (GRCm39) |
V132A |
probably damaging |
Het |
| Zfp119b |
A |
G |
17: 56,246,992 (GRCm39) |
C33R |
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 |
|
R1435:Tmprss15
|
UTSW |
16 |
78,818,342 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
|
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'- TTGGCAGAAGGGAAATCATTACC -3'
(R):5'- TTGCACTGTGGAAAGATCATCCC -3'
Sequencing Primer
(F):5'- AATCTGTAACATGTTACCTTGCTG -3'
(R):5'- TGTGGAAAGATCATCCCAGTCAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation