Incidental Mutation 'R0332:Tmprss7'
| ID |
35951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| MMRRC Submission |
038541-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R0332 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45501001 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 267
(V267M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114562
AA Change: V267M
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: V267M
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178323
|
| Meta Mutation Damage Score |
0.0924 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aggf1 |
T |
C |
13: 95,505,954 (GRCm39) |
E211G |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,181,910 (GRCm39) |
N299S |
probably benign |
Het |
| Arhgef7 |
T |
A |
8: 11,874,701 (GRCm39) |
Y777* |
probably null |
Het |
| Atad1 |
A |
G |
19: 32,679,934 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,268 (GRCm39) |
|
probably null |
Het |
| Bop1 |
A |
G |
15: 76,340,187 (GRCm39) |
Y130H |
probably damaging |
Het |
| Ccar2 |
G |
T |
14: 70,379,384 (GRCm39) |
|
probably benign |
Het |
| Ccdc110 |
G |
T |
8: 46,396,001 (GRCm39) |
E631* |
probably null |
Het |
| Cfap54 |
C |
T |
10: 92,871,319 (GRCm39) |
D634N |
probably damaging |
Het |
| Cldn8 |
C |
T |
16: 88,359,246 (GRCm39) |
|
silent |
Het |
| Cstf3 |
G |
T |
2: 104,476,812 (GRCm39) |
|
probably null |
Het |
| Dgkq |
T |
C |
5: 108,802,965 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,366,204 (GRCm39) |
L546* |
probably null |
Het |
| Eif3g |
A |
T |
9: 20,809,280 (GRCm39) |
|
probably benign |
Het |
| Fam228a |
T |
A |
12: 4,785,018 (GRCm39) |
I38F |
probably damaging |
Het |
| Fto |
A |
T |
8: 92,128,518 (GRCm39) |
|
probably benign |
Het |
| Gcnt4 |
G |
T |
13: 97,083,018 (GRCm39) |
V105L |
probably benign |
Het |
| Gm10644 |
A |
G |
8: 84,660,210 (GRCm39) |
L45S |
possibly damaging |
Het |
| Gm7275 |
A |
T |
16: 47,894,132 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7579 |
T |
C |
7: 141,766,112 (GRCm39) |
S173P |
unknown |
Het |
| Gpatch8 |
T |
C |
11: 102,372,668 (GRCm39) |
N290S |
unknown |
Het |
| Grep1 |
A |
T |
17: 23,933,578 (GRCm39) |
|
probably benign |
Het |
| Hspb8 |
T |
A |
5: 116,547,532 (GRCm39) |
D150V |
probably damaging |
Het |
| Ifitm1 |
T |
C |
7: 140,548,366 (GRCm39) |
|
probably benign |
Het |
| Ifnl2 |
T |
C |
7: 28,208,756 (GRCm39) |
T99A |
possibly damaging |
Het |
| Ints4 |
T |
C |
7: 97,166,925 (GRCm39) |
L577P |
probably damaging |
Het |
| Jph4 |
T |
C |
14: 55,351,467 (GRCm39) |
E183G |
possibly damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,471,526 (GRCm39) |
|
probably null |
Het |
| Mug1 |
G |
A |
6: 121,826,856 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
C |
A |
7: 5,320,629 (GRCm39) |
C836F |
probably damaging |
Het |
| Nup210l |
G |
T |
3: 90,039,616 (GRCm39) |
|
probably benign |
Het |
| Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
| Or51h1 |
A |
T |
7: 102,308,672 (GRCm39) |
I215F |
probably damaging |
Het |
| Or7e178 |
A |
G |
9: 20,225,352 (GRCm39) |
L288S |
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,477,502 (GRCm39) |
E98G |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,303,558 (GRCm39) |
N1648D |
probably benign |
Het |
| Plppr5 |
A |
T |
3: 117,465,581 (GRCm39) |
R277S |
probably benign |
Het |
| Ppp1r36 |
T |
A |
12: 76,474,677 (GRCm39) |
F86L |
probably benign |
Het |
| Ptgis |
A |
T |
2: 167,056,753 (GRCm39) |
L278Q |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,488,229 (GRCm39) |
F90Y |
probably damaging |
Het |
| Setd3 |
T |
C |
12: 108,073,838 (GRCm39) |
K480E |
probably benign |
Het |
| Slc66a1 |
C |
T |
4: 139,027,610 (GRCm39) |
S244N |
possibly damaging |
Het |
| Snx2 |
T |
C |
18: 53,345,983 (GRCm39) |
F389L |
probably benign |
Het |
| Sulf2 |
G |
A |
2: 165,931,119 (GRCm39) |
T296M |
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,418,614 (GRCm39) |
H214Q |
probably damaging |
Het |
| Tbx4 |
A |
T |
11: 85,789,356 (GRCm39) |
M12L |
probably benign |
Het |
| Tlk1 |
A |
T |
2: 70,575,909 (GRCm39) |
|
probably null |
Het |
| Tmub2 |
G |
A |
11: 102,179,174 (GRCm39) |
R291H |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,783,822 (GRCm39) |
V217E |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,331,154 (GRCm39) |
V10E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,596,226 (GRCm39) |
V20229A |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,608,538 (GRCm39) |
|
probably null |
Het |
| Usf2 |
T |
A |
7: 30,654,604 (GRCm39) |
M199L |
possibly damaging |
Het |
| Usp37 |
A |
T |
1: 74,534,869 (GRCm39) |
S26T |
possibly damaging |
Het |
| Vrk1 |
G |
C |
12: 106,024,884 (GRCm39) |
Q253H |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,064,534 (GRCm39) |
|
probably null |
Het |
| Xrra1 |
T |
C |
7: 99,525,449 (GRCm39) |
F123L |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,255 (GRCm39) |
I1435T |
probably damaging |
Het |
| Zfp712 |
T |
A |
13: 67,188,877 (GRCm39) |
H550L |
probably 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 |
|
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 |
|
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'- CCTTTTCACCAGCAACTAGAGAGCC -3'
(R):5'- CTGAACCGAATCCCGATATGCAGAC -3'
Sequencing Primer
(F):5'- AACTAGAGAGCCTTCAGCTTG -3'
(R):5'- TAGGTTCTGTCACCAAACGAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation