Incidental Mutation 'R0051:Tmprss7'
| ID |
64311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
matriptase-3, B230219I23Rik, LOC385645 |
| MMRRC Submission |
038345-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R0051 (G1)
|
| Quality Score |
88 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45656315-45693658 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45673939 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 401
(N401S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114562
AA Change: N401S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: N401S
| 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 |
0.0975 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,579,101 (GRCm38) |
|
noncoding transcript |
Het |
| Abr |
T |
A |
11: 76,472,502 (GRCm38) |
Q163L |
probably benign |
Het |
| Ankrd11 |
C |
A |
8: 122,889,742 (GRCm38) |
C2457F |
probably damaging |
Het |
| Anks3 |
G |
C |
16: 4,947,749 (GRCm38) |
T163S |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 30,111,095 (GRCm38) |
P908S |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,316,904 (GRCm38) |
R374L |
possibly damaging |
Het |
| Cdc45 |
G |
T |
16: 18,794,774 (GRCm38) |
A348E |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,676,035 (GRCm38) |
C300R |
probably damaging |
Het |
| Cimap1a |
C |
A |
7: 140,850,221 (GRCm38) |
|
probably benign |
Het |
| Coq2 |
T |
C |
5: 100,663,685 (GRCm38) |
N146S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,572,215 (GRCm38) |
V120A |
possibly damaging |
Het |
| Dcp2 |
T |
A |
18: 44,405,374 (GRCm38) |
|
probably benign |
Het |
| Ddx39a |
A |
G |
8: 83,720,622 (GRCm38) |
K137R |
possibly damaging |
Het |
| Diaph3 |
A |
G |
14: 87,037,454 (GRCm38) |
|
probably null |
Het |
| Dmbt1 |
G |
T |
7: 131,119,496 (GRCm38) |
R1668L |
possibly damaging |
Het |
| Dnah7a |
T |
G |
1: 53,521,086 (GRCm38) |
|
probably benign |
Het |
| Dpp7 |
A |
G |
2: 25,356,095 (GRCm38) |
Y49H |
possibly damaging |
Het |
| Drd5 |
A |
G |
5: 38,320,614 (GRCm38) |
S317G |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,832,729 (GRCm38) |
L877S |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 22,076,288 (GRCm38) |
V152I |
probably benign |
Het |
| Eeig1 |
G |
A |
2: 32,558,053 (GRCm38) |
R58Q |
possibly damaging |
Het |
| Emc1 |
T |
A |
4: 139,375,163 (GRCm38) |
M923K |
possibly damaging |
Het |
| Fcrl6 |
A |
T |
1: 172,598,753 (GRCm38) |
L159Q |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,885,297 (GRCm38) |
|
probably benign |
Het |
| Hspd1 |
A |
G |
1: 55,082,046 (GRCm38) |
|
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,258,048 (GRCm38) |
S458T |
probably damaging |
Het |
| Klf17 |
T |
C |
4: 117,760,392 (GRCm38) |
Y256C |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 147,029,353 (GRCm38) |
F319L |
probably damaging |
Het |
| Mafg |
G |
T |
11: 120,629,604 (GRCm38) |
R57S |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,742,655 (GRCm38) |
W1271R |
probably damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,447,214 (GRCm38) |
S24P |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,813,384 (GRCm38) |
E315G |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,411,001 (GRCm38) |
E1239G |
probably damaging |
Het |
| Ncaph2 |
T |
C |
15: 89,369,664 (GRCm38) |
S320P |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,218,539 (GRCm38) |
|
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,322,334 (GRCm38) |
|
probably benign |
Het |
| Rbm26 |
A |
C |
14: 105,152,540 (GRCm38) |
V216G |
possibly damaging |
Het |
| Rnf115 |
A |
G |
3: 96,785,022 (GRCm38) |
D178G |
probably damaging |
Het |
| Rtel1 |
C |
T |
2: 181,350,656 (GRCm38) |
Q424* |
probably null |
Het |
| Rwdd4a |
A |
G |
8: 47,537,365 (GRCm38) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,869,075 (GRCm38) |
D890G |
probably damaging |
Het |
| Scarb1 |
C |
A |
5: 125,281,100 (GRCm38) |
|
probably null |
Het |
| Serpina10 |
A |
G |
12: 103,626,897 (GRCm38) |
|
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,986,663 (GRCm38) |
W508R |
probably damaging |
Het |
| Slc43a2 |
T |
C |
11: 75,562,850 (GRCm38) |
C225R |
probably damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,864,859 (GRCm38) |
F440L |
probably damaging |
Het |
| Stac3 |
G |
A |
10: 127,508,148 (GRCm38) |
R305H |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,459,596 (GRCm38) |
|
probably benign |
Het |
| Syna |
A |
T |
5: 134,559,543 (GRCm38) |
L184H |
probably damaging |
Het |
| Tut4 |
T |
G |
4: 108,527,004 (GRCm38) |
S1089R |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,193,724 (GRCm38) |
Y557* |
probably null |
Het |
| Zfp352 |
T |
C |
4: 90,224,285 (GRCm38) |
S221P |
probably damaging |
Het |
| Zfp575 |
A |
G |
7: 24,586,087 (GRCm38) |
V43A |
probably benign |
Het |
| Zfp775 |
A |
G |
6: 48,620,772 (GRCm38) |
T527A |
probably benign |
Het |
|
| Other mutations in Tmprss7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Tmprss7
|
APN |
16 |
45,663,368 (GRCm38) |
missense |
probably benign |
|
|
IGL00985:Tmprss7
|
APN |
16 |
45,662,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01115:Tmprss7
|
APN |
16 |
45,660,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01296:Tmprss7
|
APN |
16 |
45,684,574 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01298:Tmprss7
|
APN |
16 |
45,664,175 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01459:Tmprss7
|
APN |
16 |
45,663,343 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01785:Tmprss7
|
APN |
16 |
45,680,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02313:Tmprss7
|
APN |
16 |
45,681,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02893:Tmprss7
|
APN |
16 |
45,669,528 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL02940:Tmprss7
|
APN |
16 |
45,656,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03291:Tmprss7
|
APN |
16 |
45,680,748 (GRCm38) |
missense |
probably benign |
|
|
amalgum
|
UTSW |
16 |
45,683,510 (GRCm38) |
missense |
probably benign |
0.15 |
|
fusion
|
UTSW |
16 |
45,690,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
steely
|
UTSW |
16 |
45,667,606 (GRCm38) |
nonsense |
probably null |
|
|
P0019:Tmprss7
|
UTSW |
16 |
45,680,733 (GRCm38) |
missense |
probably benign |
|
|
R0051:Tmprss7
|
UTSW |
16 |
45,673,939 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0092:Tmprss7
|
UTSW |
16 |
45,667,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0178:Tmprss7
|
UTSW |
16 |
45,690,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0219:Tmprss7
|
UTSW |
16 |
45,656,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0332:Tmprss7
|
UTSW |
16 |
45,680,638 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0607:Tmprss7
|
UTSW |
16 |
45,669,551 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0669:Tmprss7
|
UTSW |
16 |
45,677,962 (GRCm38) |
nonsense |
probably null |
|
|
R0783:Tmprss7
|
UTSW |
16 |
45,667,606 (GRCm38) |
nonsense |
probably null |
|
|
R1447:Tmprss7
|
UTSW |
16 |
45,680,670 (GRCm38) |
missense |
probably benign |
|
|
R1538:Tmprss7
|
UTSW |
16 |
45,679,390 (GRCm38) |
missense |
probably benign |
0.44 |
|
R1564:Tmprss7
|
UTSW |
16 |
45,662,153 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1912:Tmprss7
|
UTSW |
16 |
45,656,548 (GRCm38) |
nonsense |
probably null |
|
|
R1932:Tmprss7
|
UTSW |
16 |
45,684,593 (GRCm38) |
nonsense |
probably null |
|
|
R2257:Tmprss7
|
UTSW |
16 |
45,686,333 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R3840:Tmprss7
|
UTSW |
16 |
45,660,832 (GRCm38) |
nonsense |
probably null |
|
|
R4232:Tmprss7
|
UTSW |
16 |
45,656,573 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4332:Tmprss7
|
UTSW |
16 |
45,686,327 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4685:Tmprss7
|
UTSW |
16 |
45,679,348 (GRCm38) |
missense |
probably benign |
|
|
R4712:Tmprss7
|
UTSW |
16 |
45,690,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4822:Tmprss7
|
UTSW |
16 |
45,663,316 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5368:Tmprss7
|
UTSW |
16 |
45,660,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5386:Tmprss7
|
UTSW |
16 |
45,669,528 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5468:Tmprss7
|
UTSW |
16 |
45,656,448 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5526:Tmprss7
|
UTSW |
16 |
45,660,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5719:Tmprss7
|
UTSW |
16 |
45,686,430 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6149:Tmprss7
|
UTSW |
16 |
45,673,905 (GRCm38) |
nonsense |
probably null |
|
|
R6235:Tmprss7
|
UTSW |
16 |
45,658,122 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6358:Tmprss7
|
UTSW |
16 |
45,669,573 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6645:Tmprss7
|
UTSW |
16 |
45,690,963 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7187:Tmprss7
|
UTSW |
16 |
45,677,954 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R7222:Tmprss7
|
UTSW |
16 |
45,690,893 (GRCm38) |
missense |
probably benign |
|
|
R7634:Tmprss7
|
UTSW |
16 |
45,663,274 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7747:Tmprss7
|
UTSW |
16 |
45,683,510 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7776:Tmprss7
|
UTSW |
16 |
45,667,651 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7777:Tmprss7
|
UTSW |
16 |
45,660,600 (GRCm38) |
splice site |
probably null |
|
|
R8222:Tmprss7
|
UTSW |
16 |
45,658,098 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8983:Tmprss7
|
UTSW |
16 |
45,660,900 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9472:Tmprss7
|
UTSW |
16 |
45,680,689 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9485:Tmprss7
|
UTSW |
16 |
45,677,919 (GRCm38) |
nonsense |
probably null |
|
|
R9502:Tmprss7
|
UTSW |
16 |
45,664,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9516:Tmprss7
|
UTSW |
16 |
45,664,201 (GRCm38) |
missense |
probably benign |
0.00 |
|
T0975:Tmprss7
|
UTSW |
16 |
45,680,733 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Tmprss7
|
UTSW |
16 |
45,662,256 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTGAGGATCTGAAGTCTGCTAC -3'
(R):5'- TCTATCCCACCAAGGGCTGGATAAC -3'
Sequencing Primer
(F):5'- GTCTGCTACAACCACAGGTG -3'
(R):5'- GCTGGATAACACCTACAGTAGAGC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation