Incidental Mutation 'R4685:Tmprss7'
| ID |
353640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| MMRRC Submission |
041936-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R4685 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45499711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 321
(N321S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114562
AA Change: N321S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: N321S
| 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 |
0.0885 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
97% (71/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
C |
12: 17,057,185 (GRCm39) |
D104G |
probably damaging |
Het |
| 2810021J22Rik |
T |
C |
11: 58,771,750 (GRCm39) |
S411P |
probably damaging |
Het |
| Adcy2 |
T |
C |
13: 68,876,024 (GRCm39) |
R493G |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,609,287 (GRCm39) |
I874T |
probably benign |
Het |
| Ano2 |
G |
T |
6: 125,957,087 (GRCm39) |
E619* |
probably null |
Het |
| Apob |
A |
G |
12: 8,056,456 (GRCm39) |
K1613R |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,006,963 (GRCm39) |
F476Y |
probably damaging |
Het |
| Bmf |
G |
A |
2: 118,377,283 (GRCm39) |
A74V |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,467,139 (GRCm38) |
E925G |
possibly damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,557,682 (GRCm39) |
D181G |
possibly damaging |
Het |
| Ccdc85c |
A |
T |
12: 108,173,434 (GRCm39) |
C387S |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,374,410 (GRCm39) |
V974A |
possibly damaging |
Het |
| Cplx3 |
T |
A |
9: 57,516,483 (GRCm39) |
I407F |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,250,488 (GRCm39) |
F1703S |
probably damaging |
Het |
| Dsg3 |
C |
A |
18: 20,672,793 (GRCm39) |
D821E |
probably benign |
Het |
| Ecel1 |
G |
T |
1: 87,080,668 (GRCm39) |
|
probably null |
Het |
| Edn1 |
A |
T |
13: 42,458,729 (GRCm39) |
|
probably null |
Het |
| Egfr |
G |
A |
11: 16,808,980 (GRCm39) |
C58Y |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,574,596 (GRCm39) |
N282D |
probably benign |
Het |
| Fhit |
T |
A |
14: 9,870,091 (GRCm38) |
Q63L |
probably damaging |
Het |
| Gabarapl2 |
T |
C |
8: 112,669,150 (GRCm39) |
V36A |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,424,842 (GRCm39) |
V151A |
probably benign |
Het |
| Gm12695 |
A |
G |
4: 96,650,217 (GRCm39) |
S210P |
probably damaging |
Het |
| Gpat4 |
TAGAAGA |
TAGA |
8: 23,672,865 (GRCm39) |
|
probably benign |
Het |
| H2-M10.4 |
G |
A |
17: 36,772,688 (GRCm39) |
A98V |
probably benign |
Het |
| Hhat |
C |
A |
1: 192,277,362 (GRCm39) |
G366C |
probably damaging |
Het |
| Hydin |
C |
A |
8: 111,189,154 (GRCm39) |
A1186E |
probably damaging |
Het |
| Itgb2 |
T |
A |
10: 77,385,937 (GRCm39) |
|
probably null |
Het |
| Kank1 |
C |
T |
19: 25,387,398 (GRCm39) |
A329V |
possibly damaging |
Het |
| Kdm4b |
T |
A |
17: 56,708,675 (GRCm39) |
S1070T |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,078,277 (GRCm39) |
Y101H |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,858,140 (GRCm39) |
K679R |
probably benign |
Het |
| Mill1 |
A |
T |
7: 17,989,853 (GRCm39) |
D45V |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,412,233 (GRCm39) |
Y743N |
probably damaging |
Het |
| Nox4 |
C |
G |
7: 86,946,716 (GRCm39) |
I137M |
probably benign |
Het |
| Odf4 |
A |
G |
11: 68,813,665 (GRCm39) |
|
probably null |
Het |
| Ostf1 |
A |
T |
19: 18,558,652 (GRCm39) |
D210E |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,966,675 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
A |
G |
13: 6,606,578 (GRCm39) |
T211A |
probably benign |
Het |
| Pla2g4f |
A |
G |
2: 120,135,496 (GRCm39) |
S393P |
probably damaging |
Het |
| Plppr3 |
T |
C |
10: 79,703,359 (GRCm39) |
T42A |
probably damaging |
Het |
| Plxna4 |
C |
A |
6: 32,142,779 (GRCm39) |
G1559W |
probably damaging |
Het |
| Ppp1r13l |
T |
C |
7: 19,109,308 (GRCm39) |
|
probably null |
Het |
| Prex1 |
C |
T |
2: 166,480,252 (GRCm39) |
V163M |
probably damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,500,307 (GRCm39) |
T93A |
probably benign |
Het |
| Psg16 |
T |
C |
7: 16,824,459 (GRCm39) |
V81A |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,613,280 (GRCm39) |
|
probably benign |
Het |
| Rest |
C |
T |
5: 77,423,090 (GRCm39) |
P298L |
possibly damaging |
Het |
| Rhobtb3 |
G |
A |
13: 76,027,051 (GRCm39) |
R441* |
probably null |
Het |
| Rims4 |
T |
A |
2: 163,706,914 (GRCm39) |
K155* |
probably null |
Het |
| Rps6kb1 |
C |
T |
11: 86,410,713 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,707,532 (GRCm39) |
D2835G |
probably damaging |
Het |
| Sc5d |
C |
T |
9: 42,169,946 (GRCm39) |
V92I |
probably benign |
Het |
| Sell |
A |
T |
1: 163,893,829 (GRCm39) |
I175F |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,855,211 (GRCm39) |
D295G |
probably damaging |
Het |
| Sphk1 |
A |
G |
11: 116,426,106 (GRCm39) |
D96G |
probably damaging |
Het |
| Spns3 |
A |
T |
11: 72,428,096 (GRCm39) |
V228D |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,469,828 (GRCm39) |
S4500G |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,035,678 (GRCm39) |
C232S |
possibly damaging |
Het |
| Terf1 |
A |
G |
1: 15,889,185 (GRCm39) |
I176V |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,209,854 (GRCm39) |
A428T |
probably damaging |
Het |
| Tomm40 |
A |
G |
7: 19,435,761 (GRCm39) |
I323T |
probably benign |
Het |
| Try5 |
T |
A |
6: 41,288,233 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Vmn1r213 |
A |
T |
13: 23,195,800 (GRCm39) |
I128L |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 79,030,162 (GRCm39) |
F663L |
possibly damaging |
Het |
| Znfx1 |
T |
A |
2: 166,880,950 (GRCm39) |
Y278F |
probably damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,442,117 (GRCm39) |
|
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 |
|
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'- GTACTATTACAGCGCAGTCCC -3'
(R):5'- CTAGACAAATGCATCTACATCTCTG -3'
Sequencing Primer
(F):5'- TATTACAGCGCAGTCCCAGGAC -3'
(R):5'- ACTCACTGATGAAGGTCTGACTAGC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation