Incidental Mutation 'R9393:Tmprss15'
| ID |
710710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9393 (G1)
|
| Quality Score |
215.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78754211 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1014
(I1014T)
|
| 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: I1014T
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: I1014T
| 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: I999T
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: I999T
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,616,270 (GRCm39) |
S133G |
possibly damaging |
Het |
| Agps |
A |
G |
2: 75,735,256 (GRCm39) |
E567G |
possibly damaging |
Het |
| Ak9 |
T |
C |
10: 41,285,068 (GRCm39) |
I1381T |
unknown |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Arrb1 |
T |
A |
7: 99,238,891 (GRCm39) |
C150S |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,051,330 (GRCm39) |
I450V |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,063,608 (GRCm39) |
N181S |
probably damaging |
Het |
| Bptf |
A |
C |
11: 106,965,134 (GRCm39) |
D1353E |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc106 |
T |
A |
7: 5,059,200 (GRCm39) |
I6N |
possibly damaging |
Het |
| Celf6 |
A |
T |
9: 59,510,525 (GRCm39) |
Q252L |
probably benign |
Het |
| Colgalt2 |
A |
T |
1: 152,360,598 (GRCm39) |
K212* |
probably null |
Het |
| Cryba4 |
T |
C |
5: 112,394,632 (GRCm39) |
S166G |
probably benign |
Het |
| Cyp2w1 |
A |
G |
5: 139,342,035 (GRCm39) |
E123G |
probably benign |
Het |
| Cyp4a10 |
G |
C |
4: 115,382,566 (GRCm39) |
K285N |
probably damaging |
Het |
| Cyth1 |
G |
T |
11: 118,074,710 (GRCm39) |
T197K |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,894,685 (GRCm39) |
W262R |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,872,361 (GRCm39) |
V450D |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,842,433 (GRCm39) |
V222I |
probably benign |
Het |
| Fbxw19 |
A |
G |
9: 109,324,873 (GRCm39) |
S15P |
probably damaging |
Het |
| Fhip2b |
G |
A |
14: 70,831,463 (GRCm39) |
Q24* |
probably null |
Het |
| Fignl2 |
C |
A |
15: 100,951,466 (GRCm39) |
R272L |
unknown |
Het |
| Gm10842 |
A |
T |
11: 105,037,885 (GRCm39) |
D56V |
unknown |
Het |
| Gmps |
T |
A |
3: 63,900,640 (GRCm39) |
N305K |
probably benign |
Het |
| Gnai1 |
A |
T |
5: 18,565,055 (GRCm39) |
L38Q |
|
Het |
| Golim4 |
A |
T |
3: 75,785,464 (GRCm39) |
D642E |
probably benign |
Het |
| Gp1ba |
A |
T |
11: 70,531,293 (GRCm39) |
Q353L |
unknown |
Het |
| Gpnmb |
T |
C |
6: 49,024,996 (GRCm39) |
S343P |
possibly damaging |
Het |
| Hexb |
G |
A |
13: 97,313,336 (GRCm39) |
R507* |
probably null |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,330,350 (GRCm39) |
Y585C |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,853,981 (GRCm39) |
D795E |
probably benign |
Het |
| Klkb1 |
A |
T |
8: 45,729,392 (GRCm39) |
V309E |
probably benign |
Het |
| Krtap9-1 |
C |
A |
11: 99,764,664 (GRCm39) |
C133* |
probably null |
Het |
| Krtcap2 |
T |
C |
3: 89,153,578 (GRCm39) |
|
probably benign |
Het |
| Lilra5 |
T |
C |
7: 4,240,758 (GRCm39) |
M1T |
probably null |
Het |
| Magi1 |
G |
A |
6: 93,659,890 (GRCm39) |
T1019I |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,713,825 (GRCm39) |
H1967Q |
|
Het |
| Mgat4f |
A |
G |
1: 134,318,596 (GRCm39) |
D456G |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,980,666 (GRCm39) |
T1412S |
probably benign |
Het |
| Myh13 |
A |
T |
11: 67,242,894 (GRCm39) |
M936L |
probably benign |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,962,682 (GRCm39) |
T373A |
possibly damaging |
Het |
| Noc2l |
T |
C |
4: 156,320,784 (GRCm39) |
|
probably null |
Het |
| Nrg4 |
C |
T |
9: 55,149,420 (GRCm39) |
S59N |
probably benign |
Het |
| Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,255 (GRCm39) |
V93A |
probably benign |
Het |
| Or9k2 |
T |
C |
10: 129,999,016 (GRCm39) |
T60A |
probably benign |
Het |
| Pcdhga6 |
G |
T |
18: 37,840,212 (GRCm39) |
|
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,475,955 (GRCm39) |
N196S |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,571,296 (GRCm39) |
Y787* |
probably null |
Het |
| Psma8 |
G |
A |
18: 14,839,298 (GRCm39) |
R4Q |
probably null |
Het |
| Reg4 |
A |
G |
3: 98,137,168 (GRCm39) |
K46E |
probably benign |
Het |
| Rnf14 |
T |
A |
18: 38,442,680 (GRCm39) |
M327K |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,263,586 (GRCm39) |
Y753* |
probably null |
Het |
| Slc26a11 |
A |
G |
11: 119,259,627 (GRCm39) |
R275G |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,518,656 (GRCm39) |
T527A |
possibly damaging |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Tas1r1 |
C |
T |
4: 152,116,413 (GRCm39) |
C407Y |
probably damaging |
Het |
| Tcstv1b |
A |
T |
13: 120,634,958 (GRCm39) |
Y80F |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 49,127,559 (GRCm39) |
S40P |
probably damaging |
Het |
| Tespa1 |
T |
A |
10: 130,183,066 (GRCm39) |
S4T |
probably damaging |
Het |
| Tlr11 |
A |
G |
14: 50,599,547 (GRCm39) |
N511S |
probably benign |
Het |
| Tpte |
T |
A |
8: 22,774,990 (GRCm39) |
M20K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,612,390 (GRCm39) |
V17199A |
possibly damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,703,411 (GRCm39) |
Y305H |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,212,613 (GRCm39) |
V5081E |
unknown |
Het |
| Unkl |
T |
C |
17: 25,448,392 (GRCm39) |
S322P |
probably damaging |
Het |
| Uqcc6 |
A |
G |
10: 82,458,475 (GRCm39) |
S59P |
unknown |
Het |
| Vav3 |
T |
A |
3: 109,485,682 (GRCm39) |
|
probably null |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,765 (GRCm39) |
S150P |
probably benign |
Het |
| Xpot |
A |
G |
10: 121,445,600 (GRCm39) |
|
probably null |
Het |
| Xylt1 |
A |
G |
7: 117,242,906 (GRCm39) |
I650V |
probably benign |
Het |
| Zan |
C |
A |
5: 137,403,682 (GRCm39) |
A3955S |
unknown |
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 |
|
|
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 |
|
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'- ACCTTCTCCATAAGTGACAAGTG -3'
(R):5'- TTTGCCAAAGTGCACAGATGG -3'
Sequencing Primer
(F):5'- TCTCCATAAGTGACAAGTGGCTCG -3'
(R):5'- CATTCGAGGATGCCTGTTAATC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation