Incidental Mutation 'R8869:Tmprss15'
| ID |
676161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8869 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 78750834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 1022
(G1022*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023566]
[ENSMUST00000023568]
[ENSMUST00000060402]
[ENSMUST00000069148]
[ENSMUST00000232415]
|
| AlphaFold |
P97435 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023566
AA Change: G1022*
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: G1022*
| 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: ENSMUST00000023568
|
| SMART Domains |
Protein: ENSMUSP00000023568
Gene: ENSMUSG00000022860
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLECT
|
31 |
179 |
4.07e-25 |
SMART |
|
transmembrane domain
|
218 |
240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000060402
AA Change: G1007*
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: G1007*
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069148
|
| SMART Domains |
Protein: ENSMUSP00000063961
Gene: ENSMUSG00000022860
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLECT
|
31 |
179 |
4.07e-25 |
SMART |
|
transmembrane domain
|
218 |
240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232415
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
G |
A |
19: 55,266,523 (GRCm39) |
R114Q |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,054,690 (GRCm39) |
V980I |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,013,007 (GRCm39) |
C1895S |
probably damaging |
Het |
| Brd1 |
A |
T |
15: 88,614,729 (GRCm39) |
D55E |
probably benign |
Het |
| Cachd1 |
A |
G |
4: 100,809,280 (GRCm39) |
D255G |
probably benign |
Het |
| Ccdc168 |
A |
T |
1: 44,097,425 (GRCm39) |
D1224E |
possibly damaging |
Het |
| Ces2f |
C |
A |
8: 105,676,704 (GRCm39) |
P133T |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,460,505 (GRCm39) |
M1156L |
possibly damaging |
Het |
| Clock |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
5: 76,374,889 (GRCm39) |
|
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,844,096 (GRCm39) |
I67F |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,448,656 (GRCm39) |
I84V |
|
Het |
| Dcc |
T |
C |
18: 71,511,755 (GRCm39) |
T887A |
probably benign |
Het |
| Dhdh |
G |
T |
7: 45,137,536 (GRCm39) |
N50K |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,671,504 (GRCm39) |
E1631V |
probably damaging |
Het |
| Dusp23 |
A |
G |
1: 172,460,293 (GRCm39) |
C53R |
possibly damaging |
Het |
| Efcab6 |
G |
A |
15: 83,928,432 (GRCm39) |
S54L |
probably damaging |
Het |
| Fcamr |
T |
C |
1: 130,739,335 (GRCm39) |
F212L |
probably damaging |
Het |
| Gfap |
G |
C |
11: 102,787,810 (GRCm39) |
A45G |
probably benign |
Het |
| Grm8 |
C |
T |
6: 27,363,752 (GRCm39) |
V588M |
probably benign |
Het |
| H1f8 |
A |
G |
6: 115,926,911 (GRCm39) |
T263A |
probably benign |
Het |
| Hoatz |
T |
A |
9: 50,992,832 (GRCm39) |
|
probably null |
Het |
| Inhca |
T |
C |
9: 103,149,831 (GRCm39) |
Y242C |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,570,368 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 48,997,366 (GRCm39) |
V1728A |
probably benign |
Het |
| Nxph2 |
T |
A |
2: 23,290,071 (GRCm39) |
V141D |
probably damaging |
Het |
| Or11l3 |
T |
C |
11: 58,515,994 (GRCm39) |
E106G |
unknown |
Het |
| Or2t26 |
A |
T |
11: 49,039,483 (GRCm39) |
Y133F |
probably damaging |
Het |
| Or4f6 |
A |
T |
2: 111,838,596 (GRCm39) |
S312T |
possibly damaging |
Het |
| Or5b121 |
A |
T |
19: 13,507,892 (GRCm39) |
N329I |
probably damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,753 (GRCm39) |
|
probably null |
Het |
| Or5h25 |
A |
G |
16: 58,930,121 (GRCm39) |
V284A |
|
Het |
| Or5w10 |
A |
T |
2: 87,375,753 (GRCm39) |
M45K |
probably damaging |
Het |
| Or8c10 |
A |
G |
9: 38,279,142 (GRCm39) |
N90S |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,578,325 (GRCm39) |
I108F |
probably benign |
Het |
| Pcdha4 |
A |
T |
18: 37,086,011 (GRCm39) |
R65* |
probably null |
Het |
| Pde11a |
T |
C |
2: 76,041,434 (GRCm39) |
H412R |
probably benign |
Het |
| Peli3 |
C |
T |
19: 4,982,541 (GRCm39) |
G375S |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,561,927 (GRCm39) |
|
probably null |
Het |
| Prcp |
T |
C |
7: 92,559,518 (GRCm39) |
V194A |
possibly damaging |
Het |
| Prkce |
T |
C |
17: 86,476,370 (GRCm39) |
|
probably null |
Het |
| Prss23 |
A |
T |
7: 89,159,887 (GRCm39) |
S61T |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,535,469 (GRCm39) |
R432H |
probably damaging |
Het |
| Rnase2a |
T |
A |
14: 51,493,101 (GRCm39) |
N88I |
possibly damaging |
Het |
| Rspry1 |
G |
T |
8: 95,359,780 (GRCm39) |
L230F |
probably damaging |
Het |
| Slco1a8 |
A |
G |
6: 141,927,810 (GRCm39) |
V548A |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,365,301 (GRCm39) |
L65P |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,933,722 (GRCm39) |
Y1083H |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,986,386 (GRCm39) |
S241P |
probably damaging |
Het |
| Tmed6 |
A |
C |
8: 107,792,164 (GRCm39) |
L27R |
probably damaging |
Het |
| Tmem52 |
G |
A |
4: 155,553,788 (GRCm39) |
C32Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,730,345 (GRCm39) |
S5085G |
unknown |
Het |
| Vmn2r37 |
C |
T |
7: 9,209,854 (GRCm39) |
V553M |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,123,210 (GRCm39) |
M42K |
probably benign |
Het |
| Zfp735 |
T |
A |
11: 73,602,510 (GRCm39) |
C485S |
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 |
|
|
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 |
|
|
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'- CCATCACTTATGTTTGGGTCAG -3'
(R):5'- TGCTCAGAGGTGTAGCATCAG -3'
Sequencing Primer
(F):5'- CACTTATGTTTGGGTCAGGAAAATGC -3'
(R):5'- ACCATTTGCGCCATCTCATG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation