Incidental Mutation 'R0675:Tmprss15'
| ID |
61632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss15
|
| Ensembl Gene |
ENSMUSG00000022857 |
| Gene Name |
transmembrane protease, serine 15 |
| Synonyms |
Prss7, enterokinase, enteropeptidase, A130097D21Rik |
| MMRRC Submission |
038860-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0675 (G1)
|
| Quality Score |
141 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
78749896-78887985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 78782838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 742
(S742I)
|
| 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: S742I
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: S742I
| 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 damaging
Transcript: ENSMUST00000060402
AA Change: S727I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: S727I
| 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 |
0.7759 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (88/91) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 36,024,124 (GRCm39) |
|
probably benign |
Het |
| Aire |
T |
C |
10: 77,870,327 (GRCm39) |
|
probably benign |
Het |
| Akap12 |
T |
C |
10: 4,303,315 (GRCm39) |
S42P |
probably benign |
Het |
| Amigo1 |
T |
C |
3: 108,098,985 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
A |
G |
4: 98,921,499 (GRCm39) |
T206A |
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,600,400 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
A |
T |
7: 51,224,558 (GRCm39) |
T472S |
probably damaging |
Het |
| Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
| Cd200 |
T |
C |
16: 45,217,473 (GRCm39) |
I73V |
probably benign |
Het |
| Cd47 |
T |
C |
16: 49,727,162 (GRCm39) |
I318T |
possibly damaging |
Het |
| Cep290 |
A |
G |
10: 100,404,675 (GRCm39) |
|
probably null |
Het |
| Cep350 |
A |
G |
1: 155,835,499 (GRCm39) |
S66P |
possibly damaging |
Het |
| Cfap46 |
C |
T |
7: 139,255,950 (GRCm39) |
C300Y |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 15,978,523 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,470,407 (GRCm39) |
T1913K |
probably benign |
Het |
| Cimip3 |
T |
C |
17: 47,724,701 (GRCm39) |
E140G |
probably benign |
Het |
| Clec4b1 |
A |
G |
6: 123,048,405 (GRCm39) |
Y180C |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,341,990 (GRCm39) |
D227V |
probably damaging |
Het |
| Col19a1 |
C |
G |
1: 24,614,536 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,208,145 (GRCm39) |
M1270K |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,175,060 (GRCm39) |
F487I |
possibly damaging |
Het |
| Dpp8 |
T |
C |
9: 64,973,784 (GRCm39) |
|
probably benign |
Het |
| Duoxa1 |
A |
T |
2: 122,136,861 (GRCm39) |
|
probably benign |
Het |
| Edil3 |
A |
G |
13: 89,325,399 (GRCm39) |
K263E |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,200,035 (GRCm39) |
L1013P |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,815,246 (GRCm39) |
|
probably benign |
Het |
| Gab1 |
A |
G |
8: 81,496,297 (GRCm39) |
S668P |
probably damaging |
Het |
| Galnt14 |
T |
C |
17: 73,852,030 (GRCm39) |
T130A |
probably damaging |
Het |
| Gm10192 |
G |
A |
4: 97,071,109 (GRCm39) |
H99Y |
unknown |
Het |
| Gm5592 |
A |
G |
7: 40,938,811 (GRCm39) |
T698A |
possibly damaging |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma3 |
A |
G |
11: 98,522,017 (GRCm39) |
K149R |
probably benign |
Het |
| Igkv4-71 |
A |
G |
6: 69,220,411 (GRCm39) |
S29P |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,236,015 (GRCm39) |
V1389I |
probably benign |
Het |
| Ik |
T |
C |
18: 36,880,386 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
| Iqsec2 |
G |
A |
X: 150,987,120 (GRCm39) |
E398K |
possibly damaging |
Het |
| Jmjd6 |
A |
G |
11: 116,731,353 (GRCm39) |
V232A |
probably damaging |
Het |
| Klhdc9 |
G |
A |
1: 171,187,895 (GRCm39) |
T112M |
possibly damaging |
Het |
| Marcks |
A |
G |
10: 37,017,181 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,732,918 (GRCm39) |
T829S |
probably damaging |
Het |
| Mroh2a |
C |
A |
1: 88,156,102 (GRCm39) |
A78E |
probably damaging |
Het |
| Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
| Mtmr14 |
A |
T |
6: 113,247,608 (GRCm39) |
H518L |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,185,571 (GRCm39) |
M978T |
probably benign |
Het |
| Nlrc3 |
T |
C |
16: 3,766,775 (GRCm39) |
I1015V |
probably benign |
Het |
| Nlrp5 |
C |
A |
7: 23,116,842 (GRCm39) |
Q189K |
possibly damaging |
Het |
| Or1e26 |
A |
C |
11: 73,480,078 (GRCm39) |
L162R |
probably damaging |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,909 (GRCm39) |
I135V |
probably benign |
Het |
| Or8k35 |
T |
C |
2: 86,424,423 (GRCm39) |
I250V |
probably benign |
Het |
| Otof |
T |
A |
5: 30,539,705 (GRCm39) |
Y1051F |
probably benign |
Het |
| Pcdhb14 |
C |
A |
18: 37,581,392 (GRCm39) |
T166K |
possibly damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,030,679 (GRCm39) |
|
probably benign |
Het |
| Polr3gl |
T |
C |
3: 96,489,471 (GRCm39) |
E20G |
probably damaging |
Het |
| Psmd1 |
A |
G |
1: 86,009,761 (GRCm39) |
D295G |
probably benign |
Het |
| Ptpn21 |
C |
A |
12: 98,654,475 (GRCm39) |
A831S |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,065,914 (GRCm39) |
V56E |
probably damaging |
Het |
| Rd3l |
T |
C |
12: 111,946,596 (GRCm39) |
D60G |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,332,660 (GRCm39) |
D2624G |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,541,066 (GRCm39) |
D347G |
probably damaging |
Het |
| Sema4g |
G |
A |
19: 44,986,026 (GRCm39) |
R289H |
probably damaging |
Het |
| Sema5b |
C |
T |
16: 35,480,703 (GRCm39) |
T761I |
probably benign |
Het |
| Septin1 |
A |
T |
7: 126,816,171 (GRCm39) |
F86L |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,415,591 (GRCm39) |
V627A |
possibly damaging |
Het |
| Slc25a46 |
C |
A |
18: 31,742,641 (GRCm39) |
G75V |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,025,864 (GRCm39) |
Y405N |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,855,498 (GRCm39) |
E339G |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,067,903 (GRCm39) |
H1770Q |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,628,140 (GRCm39) |
Y944C |
probably damaging |
Het |
| Supt20 |
C |
T |
3: 54,614,390 (GRCm39) |
T169I |
probably damaging |
Het |
| Tie1 |
G |
A |
4: 118,336,966 (GRCm39) |
Q587* |
probably null |
Het |
| Tmem214 |
A |
G |
5: 31,029,169 (GRCm39) |
T203A |
possibly damaging |
Het |
| Wdr87-ps |
T |
C |
7: 29,231,942 (GRCm39) |
|
noncoding transcript |
Het |
| Zfhx2 |
A |
G |
14: 55,300,620 (GRCm39) |
V2377A |
probably damaging |
Het |
| Zfp763 |
G |
A |
17: 33,238,774 (GRCm39) |
H124Y |
possibly damaging |
Het |
| Zfp846 |
T |
C |
9: 20,504,853 (GRCm39) |
S238P |
probably benign |
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 |
|
|
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 |
|
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'- TCTCGATAGCGATccagtgaaatgagt -3'
(R):5'- CCCCAGTGAAATTAACCAAGATGACCCT -3'
Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- cctaactaatcaatagaagcagcac -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation