Incidental Mutation 'R5468:Tmprss7'
| ID |
433378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| MMRRC Submission |
043029-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R5468 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45476811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 817
(F817S)
|
| 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: F817S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: F817S
| 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
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 91.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
C |
T |
7: 44,009,659 (GRCm39) |
R181Q |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,244,062 (GRCm39) |
L1975Q |
probably damaging |
Het |
| Acp2 |
T |
A |
2: 91,036,443 (GRCm39) |
I180N |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,577,202 (GRCm39) |
D221G |
probably damaging |
Het |
| Adamts4 |
A |
G |
1: 171,080,178 (GRCm39) |
T244A |
probably benign |
Het |
| Adrb2 |
A |
T |
18: 62,312,696 (GRCm39) |
I43N |
probably damaging |
Het |
| Anxa1 |
A |
T |
19: 20,355,847 (GRCm39) |
Y207N |
probably damaging |
Het |
| Apba2 |
T |
C |
7: 64,395,510 (GRCm39) |
L662P |
probably damaging |
Het |
| Arhgap18 |
T |
A |
10: 26,788,667 (GRCm39) |
I593K |
probably damaging |
Het |
| Arsj |
T |
C |
3: 126,232,037 (GRCm39) |
V261A |
possibly damaging |
Het |
| Atp7b |
A |
T |
8: 22,549,986 (GRCm39) |
|
probably null |
Het |
| C2cd2 |
C |
T |
16: 97,669,791 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,384,568 (GRCm39) |
S2571T |
probably damaging |
Het |
| Cep162 |
A |
C |
9: 87,109,290 (GRCm39) |
L438V |
probably benign |
Het |
| Cfap74 |
A |
T |
4: 155,510,498 (GRCm39) |
N361I |
probably benign |
Het |
| Cntn5 |
A |
G |
9: 9,743,633 (GRCm39) |
I548T |
probably damaging |
Het |
| Cracd |
A |
T |
5: 76,988,610 (GRCm39) |
|
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,816,594 (GRCm39) |
N382S |
probably benign |
Het |
| Dnah10 |
C |
A |
5: 124,907,557 (GRCm39) |
N4306K |
probably damaging |
Het |
| Fam181a |
A |
T |
12: 103,282,937 (GRCm39) |
M281L |
probably benign |
Het |
| Fam186b |
A |
G |
15: 99,176,751 (GRCm39) |
I713T |
possibly damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,323,053 (GRCm39) |
Y1068F |
probably benign |
Het |
| Fubp3 |
A |
G |
2: 31,493,247 (GRCm39) |
I231V |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,272,735 (GRCm39) |
D1681G |
possibly damaging |
Het |
| Gm10999 |
G |
A |
8: 129,858,130 (GRCm39) |
P5S |
probably damaging |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Impg1 |
T |
C |
9: 80,347,318 (GRCm39) |
I9V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,948,678 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
A |
G |
1: 153,109,310 (GRCm39) |
S1161P |
probably damaging |
Het |
| Lipm |
T |
A |
19: 34,086,954 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
G |
T |
3: 158,024,073 (GRCm39) |
N107K |
probably damaging |
Het |
| Lypd8 |
T |
C |
11: 58,277,586 (GRCm39) |
S123P |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,002,729 (GRCm39) |
D1084G |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,964,519 (GRCm39) |
S1000P |
probably benign |
Het |
| Ms4a7 |
C |
T |
19: 11,299,778 (GRCm39) |
C71Y |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,537,615 (GRCm39) |
S34P |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,064,785 (GRCm39) |
N406S |
probably benign |
Het |
| Nbr1 |
A |
T |
11: 101,463,290 (GRCm39) |
M586L |
probably benign |
Het |
| Nfatc1 |
C |
T |
18: 80,693,070 (GRCm39) |
R677H |
probably benign |
Het |
| Nlrc3 |
A |
C |
16: 3,781,899 (GRCm39) |
S503R |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,064,425 (GRCm39) |
F968I |
probably benign |
Het |
| Onecut1 |
A |
T |
9: 74,770,614 (GRCm39) |
T346S |
probably damaging |
Het |
| Or1j12 |
A |
T |
2: 36,343,455 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8b35 |
G |
A |
9: 37,904,307 (GRCm39) |
C168Y |
probably damaging |
Het |
| Or8g32 |
A |
G |
9: 39,305,257 (GRCm39) |
N57D |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,730,966 (GRCm39) |
K3156M |
unknown |
Het |
| Pigo |
C |
T |
4: 43,024,562 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,809,072 (GRCm39) |
F580S |
probably damaging |
Het |
| Plekhm2 |
G |
T |
4: 141,355,411 (GRCm39) |
P879H |
probably damaging |
Het |
| Ppm1e |
T |
A |
11: 87,121,716 (GRCm39) |
Y747F |
probably benign |
Het |
| Ppwd1 |
A |
G |
13: 104,361,952 (GRCm39) |
F69L |
possibly damaging |
Het |
| Prss27 |
C |
A |
17: 24,257,287 (GRCm39) |
Q3K |
possibly damaging |
Het |
| Prss29 |
T |
A |
17: 25,540,020 (GRCm39) |
N139K |
possibly damaging |
Het |
| Qrich2 |
T |
A |
11: 116,339,191 (GRCm39) |
T1777S |
probably damaging |
Het |
| Rbp3 |
A |
T |
14: 33,678,584 (GRCm39) |
H844L |
possibly damaging |
Het |
| Rubcnl |
G |
A |
14: 75,269,471 (GRCm39) |
C43Y |
possibly damaging |
Het |
| Sec14l5 |
A |
G |
16: 4,985,004 (GRCm39) |
|
probably null |
Het |
| Sepsecs |
A |
T |
5: 52,801,356 (GRCm39) |
N435K |
probably damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,936,226 (GRCm39) |
K223E |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,106,502 (GRCm39) |
|
probably null |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Tril |
T |
C |
6: 53,796,632 (GRCm39) |
N197D |
probably damaging |
Het |
| Tspan18 |
T |
C |
2: 93,040,207 (GRCm39) |
T183A |
probably benign |
Het |
| Uroc1 |
A |
T |
6: 90,315,586 (GRCm39) |
M156L |
probably benign |
Het |
| Wnt16 |
T |
C |
6: 22,291,160 (GRCm39) |
V196A |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,983,950 (GRCm39) |
Y592H |
probably benign |
Het |
| Zfp553 |
T |
C |
7: 126,836,202 (GRCm39) |
S586P |
probably benign |
Het |
| Zfp619 |
C |
T |
7: 39,185,152 (GRCm39) |
A394V |
unknown |
Het |
| Zfp985 |
A |
G |
4: 147,667,702 (GRCm39) |
Y190C |
probably benign |
Het |
| Zmynd10 |
T |
A |
9: 107,427,536 (GRCm39) |
D309E |
probably benign |
Het |
| Zmynd15 |
T |
C |
11: 70,352,646 (GRCm39) |
L73P |
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 |
|
|
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 |
|
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'- TCTTCCATCCATGAGTCAGTAAC -3'
(R):5'- GGGTGCTCATGAGACAGATGTC -3'
Sequencing Primer
(F):5'- CCATCCATGAGTCAGTAACATTTTG -3'
(R):5'- GACAGATGTCTTCATGCTTACATTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation