Incidental Mutation 'R2257:Tmprss7'
| ID |
243481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| MMRRC Submission |
040257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R2257 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45506696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 122
(M122K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114562
AA Change: M122K
PolyPhen 2
Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: M122K
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
96% (70/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
A |
T |
X: 69,438,012 (GRCm39) |
W94R |
probably damaging |
Het |
| Abcc3 |
C |
T |
11: 94,254,420 (GRCm39) |
V693M |
probably damaging |
Het |
| Acp7 |
A |
C |
7: 28,313,838 (GRCm39) |
W399G |
probably damaging |
Het |
| Ap1s1 |
T |
C |
5: 137,070,633 (GRCm39) |
Y94C |
possibly damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,158,793 (GRCm39) |
I186T |
probably damaging |
Het |
| Atg4a |
A |
G |
X: 139,890,984 (GRCm39) |
I91V |
probably benign |
Het |
| Atp7b |
T |
G |
8: 22,488,282 (GRCm39) |
T1102P |
probably damaging |
Het |
| Cabs1 |
T |
C |
5: 88,128,074 (GRCm39) |
S242P |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,390 (GRCm39) |
F493L |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cdk14 |
T |
A |
5: 4,938,924 (GRCm39) |
M433L |
probably benign |
Het |
| Cep162 |
C |
A |
9: 87,088,967 (GRCm39) |
D972Y |
probably damaging |
Het |
| Cfap100 |
C |
G |
6: 90,390,802 (GRCm39) |
R184P |
possibly damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Clasrp |
A |
G |
7: 19,320,510 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
T |
A |
7: 113,853,110 (GRCm39) |
D29V |
possibly damaging |
Het |
| Cyp2b9 |
G |
A |
7: 25,873,030 (GRCm39) |
|
probably null |
Het |
| Dhx36 |
C |
T |
3: 62,385,064 (GRCm39) |
G683S |
probably damaging |
Het |
| Dnaaf11 |
T |
A |
15: 66,309,436 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,838,301 (GRCm39) |
I1110N |
probably damaging |
Het |
| Dnajc3 |
C |
G |
14: 119,210,114 (GRCm39) |
P322A |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,785,189 (GRCm39) |
T785A |
probably damaging |
Het |
| Fam228a |
T |
C |
12: 4,787,775 (GRCm39) |
|
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,378,193 (GRCm39) |
K406* |
probably null |
Het |
| Fam83e |
A |
T |
7: 45,378,194 (GRCm39) |
K406M |
possibly damaging |
Het |
| Fam90a1a |
T |
A |
8: 22,453,533 (GRCm39) |
L296Q |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,403,408 (GRCm39) |
Y53C |
probably damaging |
Het |
| Fcrl2 |
T |
C |
3: 87,166,928 (GRCm39) |
I22V |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,230,187 (GRCm39) |
N1657Y |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,503,307 (GRCm39) |
M453V |
possibly damaging |
Het |
| Grm8 |
A |
T |
6: 27,760,224 (GRCm39) |
C369S |
probably damaging |
Het |
| Hdc |
G |
A |
2: 126,458,000 (GRCm39) |
|
probably null |
Het |
| Hsf3 |
A |
T |
X: 95,363,928 (GRCm39) |
L191* |
probably null |
Het |
| Iqca1l |
C |
T |
5: 24,757,038 (GRCm39) |
|
probably benign |
Het |
| Kif4 |
A |
T |
X: 99,769,737 (GRCm39) |
N1126Y |
probably benign |
Het |
| Lat2 |
T |
C |
5: 134,631,481 (GRCm39) |
D191G |
probably damaging |
Het |
| Lipt2 |
C |
T |
7: 99,808,601 (GRCm39) |
T38I |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,137,566 (GRCm39) |
L634P |
probably damaging |
Het |
| Magea2 |
A |
T |
X: 153,810,855 (GRCm39) |
L243Q |
probably damaging |
Het |
| Mctp2 |
A |
G |
7: 71,835,568 (GRCm39) |
L543P |
probably damaging |
Het |
| Mgat4a |
T |
C |
1: 37,529,394 (GRCm39) |
N24D |
probably benign |
Het |
| Mical3 |
A |
T |
6: 121,010,696 (GRCm39) |
S429T |
possibly damaging |
Het |
| Mrps35 |
A |
G |
6: 146,972,125 (GRCm39) |
E256G |
possibly damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,337,021 (GRCm39) |
S586T |
probably benign |
Het |
| Myo1e |
G |
A |
9: 70,285,655 (GRCm39) |
|
probably null |
Het |
| Nob1 |
A |
G |
8: 108,143,729 (GRCm39) |
|
probably benign |
Het |
| Nom1 |
T |
A |
5: 29,642,750 (GRCm39) |
V417D |
probably damaging |
Het |
| Nphs1 |
A |
T |
7: 30,167,417 (GRCm39) |
I782F |
possibly damaging |
Het |
| Numa1 |
A |
G |
7: 101,649,998 (GRCm39) |
E1243G |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,026 (GRCm39) |
Y207C |
probably benign |
Het |
| Or7g27 |
A |
G |
9: 19,249,789 (GRCm39) |
E11G |
probably benign |
Het |
| Padi4 |
G |
A |
4: 140,487,251 (GRCm39) |
T217I |
possibly damaging |
Het |
| Pias3 |
C |
T |
3: 96,606,962 (GRCm39) |
T75I |
probably benign |
Het |
| Ppp1r37 |
G |
T |
7: 19,295,943 (GRCm39) |
|
probably benign |
Het |
| Prrc2a |
G |
A |
17: 35,380,044 (GRCm39) |
P185L |
unknown |
Het |
| Prss57 |
C |
T |
10: 79,623,204 (GRCm39) |
C81Y |
probably damaging |
Het |
| Psen1 |
C |
T |
12: 83,761,594 (GRCm39) |
S132L |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,788,949 (GRCm39) |
S468P |
possibly damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,610,542 (GRCm39) |
T86A |
probably damaging |
Het |
| Slco1a6 |
A |
T |
6: 142,036,742 (GRCm39) |
M555K |
probably benign |
Het |
| Thoc1 |
C |
A |
18: 9,993,466 (GRCm39) |
D608E |
possibly damaging |
Het |
| Tmem121b |
A |
T |
6: 120,469,030 (GRCm39) |
Y562* |
probably null |
Het |
| Tmem121b |
A |
G |
6: 120,469,032 (GRCm39) |
Y562H |
probably damaging |
Het |
| Tmub1 |
C |
A |
5: 24,651,922 (GRCm39) |
G14V |
possibly damaging |
Het |
| Uap1 |
A |
T |
1: 169,986,312 (GRCm39) |
|
probably benign |
Het |
| Ugdh |
A |
T |
5: 65,574,458 (GRCm39) |
|
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,661,669 (GRCm39) |
C715* |
probably null |
Het |
| Vps13a |
G |
A |
19: 16,659,538 (GRCm39) |
T1663I |
possibly damaging |
Het |
| Vps13c |
A |
C |
9: 67,860,228 (GRCm39) |
I2815L |
possibly damaging |
Het |
| Zc3h3 |
G |
T |
15: 75,711,415 (GRCm39) |
Q349K |
possibly 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 |
|
|
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 |
|
|
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'- AAAAGGCGCGTGTATCTTAAAG -3'
(R):5'- GCTGAAATCGTTTTAGGAGACTCC -3'
Sequencing Primer
(F):5'- CGCGTGTATCTTAAAGCACAG -3'
(R):5'- TCCTGCCAACGTGCATCAG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation