Incidental Mutation 'R0783:Tmprss7'
| ID |
76736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| MMRRC Submission |
038963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R0783 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 45487969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 487
(Q487*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000114562
AA Change: Q487*
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: Q487*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.2%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
A |
7: 119,893,380 (GRCm39) |
G1277R |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,415,601 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
G |
A |
7: 119,172,340 (GRCm39) |
G61D |
probably damaging |
Het |
| Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
| Bbs9 |
T |
C |
9: 22,479,010 (GRCm39) |
L151S |
possibly damaging |
Het |
| Camk2g |
T |
A |
14: 20,794,704 (GRCm39) |
T173S |
possibly damaging |
Het |
| Eif3b |
T |
C |
5: 140,405,592 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
A |
C |
4: 129,485,869 (GRCm39) |
F319V |
possibly damaging |
Het |
| Eprs1 |
T |
C |
1: 185,130,655 (GRCm39) |
L672P |
probably damaging |
Het |
| Fam110d |
G |
A |
4: 133,979,368 (GRCm39) |
R37C |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,916,289 (GRCm39) |
A3441V |
probably damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,334,883 (GRCm39) |
M79K |
probably damaging |
Het |
| Hdac1 |
T |
C |
4: 129,411,902 (GRCm39) |
N331S |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,525,824 (GRCm39) |
G3300S |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,053,071 (GRCm39) |
E400G |
probably damaging |
Het |
| Irx2 |
T |
C |
13: 72,780,769 (GRCm39) |
|
probably null |
Het |
| Itih4 |
G |
A |
14: 30,617,380 (GRCm39) |
E567K |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,313,596 (GRCm39) |
|
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,451,621 (GRCm39) |
G204E |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,517,680 (GRCm39) |
F1843L |
possibly damaging |
Het |
| Mllt6 |
T |
C |
11: 97,556,571 (GRCm39) |
V87A |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,369,870 (GRCm39) |
S34T |
probably benign |
Het |
| Or10q1 |
T |
C |
19: 13,727,040 (GRCm39) |
L190P |
probably damaging |
Het |
| Or4c119 |
A |
T |
2: 88,987,235 (GRCm39) |
C95S |
probably benign |
Het |
| Or52b3 |
A |
G |
7: 102,203,646 (GRCm39) |
I52V |
probably benign |
Het |
| Or52s1 |
T |
C |
7: 102,861,877 (GRCm39) |
F259S |
probably damaging |
Het |
| Or5h25 |
A |
T |
16: 58,930,532 (GRCm39) |
L147* |
probably null |
Het |
| Or8h9 |
A |
G |
2: 86,788,906 (GRCm39) |
C299R |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,622,252 (GRCm39) |
W1074R |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,307,314 (GRCm39) |
T310A |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,891,347 (GRCm39) |
L250P |
probably damaging |
Het |
| Plk5 |
T |
A |
10: 80,196,964 (GRCm39) |
D352E |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,586,672 (GRCm39) |
|
probably benign |
Het |
| Serinc3 |
A |
G |
2: 163,478,923 (GRCm39) |
I68T |
possibly damaging |
Het |
| Sez6l2 |
A |
G |
7: 126,566,317 (GRCm39) |
T810A |
possibly damaging |
Het |
| Tnf |
A |
G |
17: 35,420,650 (GRCm39) |
I56T |
probably damaging |
Het |
| Ttbk2 |
A |
T |
2: 120,570,458 (GRCm39) |
S1163T |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,573,874 (GRCm39) |
T23927I |
probably damaging |
Het |
| Urb1 |
G |
A |
16: 90,607,185 (GRCm39) |
A15V |
possibly damaging |
Het |
| Zfp128 |
C |
T |
7: 12,624,199 (GRCm39) |
P189L |
probably damaging |
Het |
| Zfr |
T |
C |
15: 12,162,268 (GRCm39) |
V806A |
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 |
|
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 |
|
|
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'- CCGGGCCATAAAGAATAGCCATGAC -3'
(R):5'- CCCTGGGCTCCAAGACTAGAAATTG -3'
Sequencing Primer
(F):5'- CTCAGCTAAGGAGAGCCTATGC -3'
(R):5'- CATTGTCTTGACTGCATGGAGAAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation