Incidental Mutation 'R8222:Tmprss7'
ID |
636789 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss7
|
Ensembl Gene |
ENSMUSG00000033177 |
Gene Name |
transmembrane serine protease 7 |
Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
MMRRC Submission |
067640-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R8222 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45478461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 755
(I755N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036732]
[ENSMUST00000114562]
|
AlphaFold |
Q8BIK6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036732
|
SMART Domains |
Protein: ENSMUSP00000037651 Gene: ENSMUSG00000033187
Domain | Start | End | E-Value | Type |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114562
AA Change: I755N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110209 Gene: ENSMUSG00000033177 AA Change: I755N
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: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh18a1 |
C |
T |
19: 40,562,296 (GRCm39) |
V243I |
probably benign |
Het |
Ankrd11 |
A |
T |
8: 123,622,347 (GRCm39) |
S481T |
probably damaging |
Het |
Atg2b |
A |
G |
12: 105,618,475 (GRCm39) |
I859T |
possibly damaging |
Het |
B4galt3 |
G |
A |
1: 171,100,253 (GRCm39) |
R141Q |
possibly damaging |
Het |
Bace1 |
T |
C |
9: 45,768,491 (GRCm39) |
V262A |
probably damaging |
Het |
BC106179 |
A |
T |
16: 23,043,055 (GRCm39) |
I47N |
noncoding transcript |
Het |
Brpf1 |
C |
T |
6: 113,286,999 (GRCm39) |
P76S |
probably benign |
Het |
Cdk1 |
A |
G |
10: 69,176,426 (GRCm39) |
V227A |
probably benign |
Het |
Ceacam20 |
T |
C |
7: 19,705,618 (GRCm39) |
V203A |
probably benign |
Het |
Cfap251 |
T |
A |
5: 123,440,486 (GRCm39) |
Y1091N |
probably damaging |
Het |
Cma2 |
T |
C |
14: 56,210,727 (GRCm39) |
V194A |
probably benign |
Het |
Cnnm4 |
A |
G |
1: 36,545,617 (GRCm39) |
D749G |
probably benign |
Het |
Cyp11b2 |
T |
C |
15: 74,728,059 (GRCm39) |
T8A |
probably benign |
Het |
Dlk2 |
A |
G |
17: 46,613,384 (GRCm39) |
H170R |
probably benign |
Het |
Esyt1 |
C |
T |
10: 128,347,647 (GRCm39) |
R987Q |
possibly damaging |
Het |
Ganc |
T |
C |
2: 120,276,933 (GRCm39) |
I665T |
probably damaging |
Het |
Gas6 |
T |
C |
8: 13,520,276 (GRCm39) |
T471A |
probably benign |
Het |
Grik2 |
A |
G |
10: 49,449,744 (GRCm39) |
F153L |
probably benign |
Het |
Heatr5b |
A |
G |
17: 79,109,130 (GRCm39) |
V1043A |
possibly damaging |
Het |
Ipo5 |
A |
G |
14: 121,157,414 (GRCm39) |
D84G |
probably benign |
Het |
Irak4 |
T |
A |
15: 94,459,110 (GRCm39) |
|
probably null |
Het |
Lrp4 |
T |
A |
2: 91,305,086 (GRCm39) |
C238S |
probably damaging |
Het |
Mau2 |
A |
T |
8: 70,485,827 (GRCm39) |
|
probably null |
Het |
Mdn1 |
T |
C |
4: 32,707,477 (GRCm39) |
F1589L |
probably benign |
Het |
Mlxip |
T |
G |
5: 123,585,596 (GRCm39) |
S662A |
probably benign |
Het |
Mn1 |
A |
T |
5: 111,566,546 (GRCm39) |
N172I |
probably damaging |
Het |
Mup2 |
A |
C |
4: 60,138,454 (GRCm39) |
D79E |
probably benign |
Het |
Nab2 |
C |
A |
10: 127,498,645 (GRCm39) |
V475L |
probably benign |
Het |
Nlrp3 |
A |
G |
11: 59,439,614 (GRCm39) |
E397G |
probably damaging |
Het |
Odf2l |
A |
G |
3: 144,833,799 (GRCm39) |
E153G |
probably damaging |
Het |
Or13p10 |
T |
C |
4: 118,523,113 (GRCm39) |
L133P |
probably damaging |
Het |
Or51f5 |
G |
T |
7: 102,424,099 (GRCm39) |
D123Y |
probably damaging |
Het |
Or5d36 |
T |
A |
2: 87,901,381 (GRCm39) |
Y115F |
probably benign |
Het |
Or5l13 |
T |
C |
2: 87,779,788 (GRCm39) |
N263S |
probably benign |
Het |
Pkdrej |
T |
A |
15: 85,701,640 (GRCm39) |
H1432L |
probably benign |
Het |
Plec |
C |
T |
15: 76,063,374 (GRCm39) |
R2232H |
possibly damaging |
Het |
Polk |
T |
C |
13: 96,632,023 (GRCm39) |
M317V |
possibly damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,008,164 (GRCm39) |
S758P |
probably benign |
Het |
Pramel26 |
A |
T |
4: 143,536,893 (GRCm39) |
D479E |
possibly damaging |
Het |
Prdm9 |
A |
G |
17: 15,765,035 (GRCm39) |
S582P |
possibly damaging |
Het |
R3hcc1l |
T |
A |
19: 42,564,616 (GRCm39) |
L643H |
probably damaging |
Het |
Rassf8 |
G |
A |
6: 145,765,783 (GRCm39) |
V38M |
unknown |
Het |
Reln |
G |
A |
5: 22,136,475 (GRCm39) |
Q2518* |
probably null |
Het |
Sel1l3 |
A |
G |
5: 53,345,296 (GRCm39) |
|
probably null |
Het |
Serpina3m |
A |
T |
12: 104,358,960 (GRCm39) |
D324V |
possibly damaging |
Het |
Slc12a6 |
T |
A |
2: 112,169,870 (GRCm39) |
|
probably null |
Het |
Slc25a3 |
A |
G |
10: 90,954,053 (GRCm39) |
W219R |
probably damaging |
Het |
Sort1 |
T |
A |
3: 108,241,951 (GRCm39) |
V299E |
probably benign |
Het |
Stx6 |
A |
G |
1: 155,073,889 (GRCm39) |
D233G |
possibly damaging |
Het |
Tefm |
A |
G |
11: 80,031,230 (GRCm39) |
V2A |
|
Het |
Tfdp2 |
T |
C |
9: 96,192,666 (GRCm39) |
S190P |
possibly damaging |
Het |
Trpm8 |
A |
G |
1: 88,253,390 (GRCm39) |
|
probably null |
Het |
Ube2q2l |
A |
G |
6: 136,377,882 (GRCm39) |
I316T |
probably damaging |
Het |
Ugt2a2 |
A |
G |
5: 87,608,369 (GRCm39) |
L490P |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,614,234 (GRCm39) |
L1240P |
probably damaging |
Het |
Vmn1r159 |
G |
T |
7: 22,542,608 (GRCm39) |
Y141* |
probably null |
Het |
Vmn2r56 |
T |
A |
7: 12,444,960 (GRCm39) |
Y431F |
probably benign |
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 |
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 |
|
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'- ATCTGGGCAACTCAGATAAAGG -3'
(R):5'- ACTCACAGGCTCATAGGACC -3'
Sequencing Primer
(F):5'- GCAACTCAGATAAAGGAAGGGC -3'
(R):5'- GACATTGGCAAAGCTTTGATCTAGC -3'
|
Posted On |
2020-07-13 |