Incidental Mutation 'R5368:Tmprss7'
ID |
429503 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss7
|
Ensembl Gene |
ENSMUSG00000033177 |
Gene Name |
transmembrane serine protease 7 |
Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
MMRRC Submission |
043204-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R5368 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45481252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 645
(W645R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
AlphaFold |
Q8BIK6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114562
AA Change: W645R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110209 Gene: ENSMUSG00000033177 AA Change: W645R
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
55 |
N/A |
INTRINSIC |
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
Pfam:SEA
|
94 |
198 |
4.6e-23 |
PFAM |
CUB
|
233 |
346 |
9.35e-4 |
SMART |
Pfam:CUB
|
351 |
454 |
3e-7 |
PFAM |
LDLa
|
469 |
506 |
5.63e-13 |
SMART |
LDLa
|
510 |
541 |
5.56e-2 |
SMART |
LDLa
|
544 |
582 |
8.95e-7 |
SMART |
Tryp_SPc
|
591 |
821 |
7.17e-85 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169421
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170951
|
Meta Mutation Damage Score |
0.8093 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (61/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
A |
7: 130,740,925 (GRCm39) |
H97L |
possibly damaging |
Het |
Abca9 |
T |
A |
11: 110,036,372 (GRCm39) |
N579I |
probably damaging |
Het |
Acbd3 |
A |
T |
1: 180,549,660 (GRCm39) |
|
probably benign |
Het |
Ankrd50 |
A |
T |
3: 38,509,199 (GRCm39) |
I1056N |
probably damaging |
Het |
Ceacam18 |
T |
C |
7: 43,291,458 (GRCm39) |
V300A |
probably benign |
Het |
Cfap46 |
C |
A |
7: 139,207,389 (GRCm39) |
R1843S |
possibly damaging |
Het |
D430041D05Rik |
A |
G |
2: 104,078,629 (GRCm39) |
V1229A |
probably damaging |
Het |
Dbx2 |
G |
A |
15: 95,538,522 (GRCm39) |
S206L |
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,918,628 (GRCm39) |
D1530E |
probably damaging |
Het |
Ecm2 |
A |
C |
13: 49,674,419 (GRCm39) |
T280P |
probably benign |
Het |
Emc2 |
G |
A |
15: 43,375,207 (GRCm39) |
|
probably null |
Het |
Epb42 |
C |
T |
2: 120,849,943 (GRCm39) |
V689I |
probably benign |
Het |
Fam114a1 |
T |
A |
5: 65,163,452 (GRCm39) |
M209K |
possibly damaging |
Het |
Fam117a |
C |
T |
11: 95,266,459 (GRCm39) |
S193F |
probably damaging |
Het |
Foxp2 |
A |
T |
6: 15,377,913 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
T |
A |
12: 70,910,874 (GRCm39) |
C19* |
probably null |
Het |
Fyb1 |
A |
G |
15: 6,610,159 (GRCm39) |
|
probably null |
Het |
Gata6 |
C |
A |
18: 11,063,059 (GRCm39) |
H442Q |
possibly damaging |
Het |
Gldc |
A |
G |
19: 30,135,921 (GRCm39) |
S160P |
probably benign |
Het |
Gm3952 |
A |
G |
8: 129,472,455 (GRCm39) |
S1626P |
possibly damaging |
Het |
Gm9762 |
T |
A |
3: 78,873,742 (GRCm39) |
|
noncoding transcript |
Het |
Gtpbp2 |
T |
C |
17: 46,477,230 (GRCm39) |
|
probably benign |
Het |
Hgd |
A |
T |
16: 37,410,113 (GRCm39) |
T50S |
probably benign |
Het |
Itpr1 |
C |
T |
6: 108,364,459 (GRCm39) |
T22M |
probably damaging |
Het |
Kif26b |
G |
A |
1: 178,743,449 (GRCm39) |
E1182K |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,919,034 (GRCm39) |
E230G |
probably damaging |
Het |
Leng8 |
A |
G |
7: 4,142,987 (GRCm39) |
Y88C |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,711,895 (GRCm39) |
D54G |
possibly damaging |
Het |
Lypd2 |
G |
T |
15: 74,604,908 (GRCm39) |
A29E |
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mical3 |
T |
C |
6: 120,936,434 (GRCm39) |
Y1364C |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,935,054 (GRCm39) |
N163S |
probably damaging |
Het |
Mtf1 |
G |
A |
4: 124,718,872 (GRCm39) |
C295Y |
probably damaging |
Het |
Nbn |
T |
A |
4: 15,969,391 (GRCm39) |
L212Q |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,959,852 (GRCm39) |
|
probably null |
Het |
Or10ag56 |
T |
A |
2: 87,139,126 (GRCm39) |
|
probably null |
Het |
Or4c110 |
A |
G |
2: 88,832,435 (GRCm39) |
S66P |
probably damaging |
Het |
Peli1 |
A |
G |
11: 21,098,389 (GRCm39) |
T375A |
probably damaging |
Het |
Picalm |
T |
C |
7: 89,856,803 (GRCm39) |
*611Q |
probably null |
Het |
Plch1 |
G |
T |
3: 63,609,394 (GRCm39) |
Q938K |
possibly damaging |
Het |
Plxnb2 |
A |
G |
15: 89,043,796 (GRCm39) |
V1352A |
possibly damaging |
Het |
Pmepa1 |
G |
A |
2: 173,070,115 (GRCm39) |
R147W |
probably damaging |
Het |
Prdm16 |
T |
G |
4: 154,429,848 (GRCm39) |
K373Q |
probably damaging |
Het |
Qki |
T |
G |
17: 10,457,964 (GRCm39) |
E135A |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,575,073 (GRCm39) |
K556E |
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Sin3a |
T |
A |
9: 57,018,084 (GRCm39) |
D834E |
possibly damaging |
Het |
Smg8 |
G |
A |
11: 86,971,086 (GRCm39) |
S895L |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,890,686 (GRCm39) |
I1944M |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Tns1 |
T |
C |
1: 73,980,176 (GRCm39) |
M1111V |
probably benign |
Het |
Ttn |
A |
C |
2: 76,608,726 (GRCm39) |
D17763E |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubr4 |
G |
A |
4: 139,124,839 (GRCm39) |
|
probably benign |
Het |
Usp31 |
T |
C |
7: 121,260,588 (GRCm39) |
H637R |
probably damaging |
Het |
Vps50 |
A |
C |
6: 3,567,739 (GRCm39) |
E545A |
possibly damaging |
Het |
Wdfy3 |
G |
T |
5: 102,020,724 (GRCm39) |
L2527M |
probably damaging |
Het |
Wfdc2 |
T |
C |
2: 164,405,354 (GRCm39) |
V85A |
possibly damaging |
Het |
|
Other mutations in Tmprss7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:Tmprss7
|
APN |
16 |
45,483,731 (GRCm39) |
missense |
probably benign |
|
IGL00985:Tmprss7
|
APN |
16 |
45,482,685 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01115:Tmprss7
|
APN |
16 |
45,481,152 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01296:Tmprss7
|
APN |
16 |
45,504,937 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01298:Tmprss7
|
APN |
16 |
45,484,538 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01459:Tmprss7
|
APN |
16 |
45,483,706 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01785:Tmprss7
|
APN |
16 |
45,500,997 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02313:Tmprss7
|
APN |
16 |
45,501,956 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02893:Tmprss7
|
APN |
16 |
45,489,891 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02940:Tmprss7
|
APN |
16 |
45,476,818 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03291:Tmprss7
|
APN |
16 |
45,501,111 (GRCm39) |
missense |
probably benign |
|
amalgum
|
UTSW |
16 |
45,503,873 (GRCm39) |
missense |
probably benign |
0.15 |
fusion
|
UTSW |
16 |
45,511,123 (GRCm39) |
missense |
probably damaging |
1.00 |
steely
|
UTSW |
16 |
45,487,969 (GRCm39) |
nonsense |
probably null |
|
P0019:Tmprss7
|
UTSW |
16 |
45,501,096 (GRCm39) |
missense |
probably benign |
|
R0051:Tmprss7
|
UTSW |
16 |
45,494,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R0051:Tmprss7
|
UTSW |
16 |
45,494,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Tmprss7
|
UTSW |
16 |
45,487,959 (GRCm39) |
missense |
probably damaging |
1.00 |
R0178:Tmprss7
|
UTSW |
16 |
45,511,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R0219:Tmprss7
|
UTSW |
16 |
45,476,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R0332:Tmprss7
|
UTSW |
16 |
45,501,001 (GRCm39) |
missense |
probably benign |
0.01 |
R0607:Tmprss7
|
UTSW |
16 |
45,489,914 (GRCm39) |
missense |
probably damaging |
0.97 |
R0669:Tmprss7
|
UTSW |
16 |
45,498,325 (GRCm39) |
nonsense |
probably null |
|
R0783:Tmprss7
|
UTSW |
16 |
45,487,969 (GRCm39) |
nonsense |
probably null |
|
R1447:Tmprss7
|
UTSW |
16 |
45,501,033 (GRCm39) |
missense |
probably benign |
|
R1538:Tmprss7
|
UTSW |
16 |
45,499,753 (GRCm39) |
missense |
probably benign |
0.44 |
R1564:Tmprss7
|
UTSW |
16 |
45,482,516 (GRCm39) |
critical splice donor site |
probably null |
|
R1912:Tmprss7
|
UTSW |
16 |
45,476,911 (GRCm39) |
nonsense |
probably null |
|
R1932:Tmprss7
|
UTSW |
16 |
45,504,956 (GRCm39) |
nonsense |
probably null |
|
R2257:Tmprss7
|
UTSW |
16 |
45,506,696 (GRCm39) |
missense |
possibly damaging |
0.47 |
R3840:Tmprss7
|
UTSW |
16 |
45,481,195 (GRCm39) |
nonsense |
probably null |
|
R4232:Tmprss7
|
UTSW |
16 |
45,476,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R4332:Tmprss7
|
UTSW |
16 |
45,506,690 (GRCm39) |
missense |
probably benign |
0.00 |
R4685:Tmprss7
|
UTSW |
16 |
45,499,711 (GRCm39) |
missense |
probably benign |
|
R4712:Tmprss7
|
UTSW |
16 |
45,511,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R4822:Tmprss7
|
UTSW |
16 |
45,483,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R5386:Tmprss7
|
UTSW |
16 |
45,489,891 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5468:Tmprss7
|
UTSW |
16 |
45,476,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R5526:Tmprss7
|
UTSW |
16 |
45,481,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R5719:Tmprss7
|
UTSW |
16 |
45,506,793 (GRCm39) |
missense |
probably damaging |
0.99 |
R6149:Tmprss7
|
UTSW |
16 |
45,494,268 (GRCm39) |
nonsense |
probably null |
|
R6235:Tmprss7
|
UTSW |
16 |
45,478,485 (GRCm39) |
missense |
probably benign |
0.03 |
R6358:Tmprss7
|
UTSW |
16 |
45,489,936 (GRCm39) |
missense |
probably benign |
0.00 |
R6645:Tmprss7
|
UTSW |
16 |
45,511,326 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7187:Tmprss7
|
UTSW |
16 |
45,498,317 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7222:Tmprss7
|
UTSW |
16 |
45,511,256 (GRCm39) |
missense |
probably benign |
|
R7634:Tmprss7
|
UTSW |
16 |
45,483,637 (GRCm39) |
missense |
probably benign |
0.00 |
R7747:Tmprss7
|
UTSW |
16 |
45,503,873 (GRCm39) |
missense |
probably benign |
0.15 |
R7776:Tmprss7
|
UTSW |
16 |
45,488,014 (GRCm39) |
missense |
probably benign |
0.03 |
R7777:Tmprss7
|
UTSW |
16 |
45,480,963 (GRCm39) |
splice site |
probably null |
|
R8222:Tmprss7
|
UTSW |
16 |
45,478,461 (GRCm39) |
missense |
probably damaging |
0.99 |
R8983:Tmprss7
|
UTSW |
16 |
45,481,263 (GRCm39) |
missense |
probably damaging |
0.98 |
R9472:Tmprss7
|
UTSW |
16 |
45,501,052 (GRCm39) |
missense |
probably benign |
0.09 |
R9485:Tmprss7
|
UTSW |
16 |
45,498,282 (GRCm39) |
nonsense |
probably null |
|
R9502:Tmprss7
|
UTSW |
16 |
45,484,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R9516:Tmprss7
|
UTSW |
16 |
45,484,564 (GRCm39) |
missense |
probably benign |
0.00 |
T0975:Tmprss7
|
UTSW |
16 |
45,501,096 (GRCm39) |
missense |
probably benign |
|
Z1176:Tmprss7
|
UTSW |
16 |
45,482,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCTGGAGGAATGCATATTGG -3'
(R):5'- TATAGGTCATGAGATGTCAGAAGGC -3'
Sequencing Primer
(F):5'- GGAATGCATATTGGTTGAATGAGC -3'
(R):5'- CTTCATTGCTGTGTCTAGCAAAGAG -3'
|
Posted On |
2016-09-06 |