Incidental Mutation 'R7187:Tmprss7'
| ID |
559388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| MMRRC Submission |
045377-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R7187 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45498317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 354
(T354I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114562
AA Change: T354I
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: T354I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,327,733 (GRCm39) |
Y716C |
probably damaging |
Het |
| Abcc1 |
A |
G |
16: 14,284,861 (GRCm39) |
I1237V |
probably benign |
Het |
| Adam34 |
C |
T |
8: 44,105,565 (GRCm39) |
A27T |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,257,478 (GRCm39) |
S415G |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,711,532 (GRCm39) |
Y390H |
probably benign |
Het |
| Arap2 |
A |
C |
5: 62,826,396 (GRCm39) |
M1056R |
probably damaging |
Het |
| Brf1 |
T |
C |
12: 112,923,945 (GRCm39) |
Y676C |
unknown |
Het |
| Cachd1 |
T |
A |
4: 100,833,552 (GRCm39) |
H776Q |
possibly damaging |
Het |
| Cacng7 |
T |
C |
7: 3,385,183 (GRCm39) |
V28A |
probably damaging |
Het |
| Camk2g |
A |
T |
14: 20,792,780 (GRCm39) |
D359E |
probably benign |
Het |
| Cd209b |
T |
C |
8: 3,976,638 (GRCm39) |
D16G |
probably benign |
Het |
| Ceacam5 |
A |
G |
7: 17,493,410 (GRCm39) |
E811G |
possibly damaging |
Het |
| Cecr2 |
T |
A |
6: 120,733,647 (GRCm39) |
S545T |
probably benign |
Het |
| Cep55 |
T |
C |
19: 38,048,806 (GRCm39) |
|
probably null |
Het |
| Ctif |
C |
A |
18: 75,770,290 (GRCm39) |
V32L |
probably damaging |
Het |
| Cwc27 |
G |
A |
13: 104,797,900 (GRCm39) |
A353V |
probably benign |
Het |
| Dclk3 |
T |
A |
9: 111,314,064 (GRCm39) |
S713R |
probably damaging |
Het |
| Dlec1 |
C |
T |
9: 118,941,214 (GRCm39) |
H255Y |
probably benign |
Het |
| Dlgap1 |
A |
G |
17: 70,823,093 (GRCm39) |
H26R |
possibly damaging |
Het |
| Dydc1 |
C |
T |
14: 40,800,051 (GRCm39) |
T19I |
possibly damaging |
Het |
| Efcab12 |
G |
A |
6: 115,800,474 (GRCm39) |
P183L |
not run |
Het |
| Eif1ad19 |
T |
C |
12: 87,740,708 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
C |
A |
4: 117,446,343 (GRCm39) |
Q219K |
probably benign |
Het |
| Fam135a |
A |
G |
1: 24,083,295 (GRCm39) |
L310P |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,965,272 (GRCm39) |
S502T |
possibly damaging |
Het |
| Fgf8 |
A |
G |
19: 45,730,106 (GRCm39) |
S57P |
probably benign |
Het |
| Gls |
T |
C |
1: 52,259,139 (GRCm39) |
E154G |
probably damaging |
Het |
| Gm28042 |
T |
C |
2: 119,870,176 (GRCm39) |
L705P |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,736,512 (GRCm39) |
Q1961K |
probably benign |
Het |
| Herc3 |
C |
A |
6: 58,833,616 (GRCm39) |
Q168K |
probably benign |
Het |
| Il31ra |
C |
A |
13: 112,682,845 (GRCm39) |
C168F |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,257,072 (GRCm39) |
D860E |
probably benign |
Het |
| Iqcm |
T |
G |
8: 76,480,044 (GRCm39) |
L334R |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,641,204 (GRCm39) |
D1587G |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 109,882,201 (GRCm39) |
V355E |
probably benign |
Het |
| Mapk13 |
T |
A |
17: 28,995,361 (GRCm39) |
I194N |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,013,515 (GRCm39) |
T103A |
probably benign |
Het |
| Naglu |
G |
T |
11: 100,961,158 (GRCm39) |
G70W |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,343,201 (GRCm39) |
M126K |
possibly damaging |
Het |
| Or4c120 |
T |
C |
2: 89,001,714 (GRCm39) |
|
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,585 (GRCm39) |
V165E |
probably benign |
Het |
| Pdia4 |
T |
C |
6: 47,790,193 (GRCm39) |
T16A |
unknown |
Het |
| Pou6f2 |
G |
A |
13: 18,414,298 (GRCm39) |
A159V |
|
Het |
| Ripor1 |
A |
G |
8: 106,344,506 (GRCm39) |
T547A |
probably benign |
Het |
| Rundc3b |
A |
G |
5: 8,542,506 (GRCm39) |
S389P |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spats2 |
T |
C |
15: 99,110,054 (GRCm39) |
S484P |
probably benign |
Het |
| Supv3l1 |
G |
A |
10: 62,271,328 (GRCm39) |
T403I |
probably damaging |
Het |
| Tacstd2 |
G |
A |
6: 67,512,180 (GRCm39) |
R171W |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,471,552 (GRCm39) |
F542L |
probably damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,801,459 (GRCm39) |
N331K |
possibly damaging |
Het |
| Tff2 |
A |
T |
17: 31,361,200 (GRCm39) |
C118S |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,313,774 (GRCm39) |
F33I |
probably damaging |
Het |
| Tpbpa |
G |
A |
13: 61,088,399 (GRCm39) |
|
probably benign |
Het |
| Ube3a |
G |
T |
7: 58,925,653 (GRCm39) |
V165F |
probably benign |
Het |
| Vmn2r4 |
T |
G |
3: 64,322,681 (GRCm39) |
T13P |
probably benign |
Het |
| Wnt8b |
A |
G |
19: 44,500,121 (GRCm39) |
D236G |
probably benign |
Het |
| Ythdf3 |
C |
A |
3: 16,258,451 (GRCm39) |
D210E |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,753 (GRCm39) |
Y800* |
probably null |
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 |
|
R5368:Tmprss7
|
UTSW |
16 |
45,481,252 (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 |
|
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'- ACTTGACACCAGAGGATGTAGAC -3'
(R):5'- TGAGAACTAGAGTTTCCTTTGGACC -3'
Sequencing Primer
(F):5'- GGATGTAGACTATGGGAAATTTCAC -3'
(R):5'- GAGTTTCCTTTGGACCTAACATTAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation