Incidental Mutation 'R5719:Tmprss7'
ID |
451383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss7
|
Ensembl Gene |
ENSMUSG00000033177 |
Gene Name |
transmembrane serine protease 7 |
Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
MMRRC Submission |
043339-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R5719 (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 45506793 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 90
(S90G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
AlphaFold |
Q8BIK6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114562
AA Change: S90G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110209 Gene: ENSMUSG00000033177 AA Change: S90G
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 |
0.0801 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
98% (79/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130051J06Rik |
C |
T |
15: 95,688,641 (GRCm39) |
|
probably benign |
Het |
A630001G21Rik |
T |
A |
1: 85,651,106 (GRCm39) |
R110W |
probably benign |
Het |
Abca4 |
T |
C |
3: 121,928,915 (GRCm39) |
|
probably null |
Het |
Abcc3 |
T |
C |
11: 94,241,894 (GRCm39) |
N1379S |
probably damaging |
Het |
Actrt3 |
A |
C |
3: 30,652,276 (GRCm39) |
F273V |
probably benign |
Het |
Adam22 |
T |
C |
5: 8,417,217 (GRCm39) |
D75G |
probably benign |
Het |
Ash1l |
C |
A |
3: 88,961,805 (GRCm39) |
D2392E |
possibly damaging |
Het |
Ash1l |
T |
C |
3: 88,965,933 (GRCm39) |
I2445T |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,164,071 (GRCm39) |
H1137Q |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,401,851 (GRCm39) |
I762V |
probably benign |
Het |
Ccdc127 |
T |
A |
13: 74,505,187 (GRCm39) |
|
probably benign |
Het |
Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
Cdk13 |
A |
G |
13: 17,894,240 (GRCm39) |
I1129T |
probably damaging |
Het |
Cnot1 |
C |
T |
8: 96,470,924 (GRCm39) |
R1308H |
possibly damaging |
Het |
Crhr2 |
T |
C |
6: 55,080,207 (GRCm39) |
H144R |
probably damaging |
Het |
Dnmt1 |
T |
C |
9: 20,823,891 (GRCm39) |
N993S |
possibly damaging |
Het |
Eif4g1 |
T |
A |
16: 20,507,761 (GRCm39) |
V1182D |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fam234a |
T |
A |
17: 26,433,627 (GRCm39) |
Q399L |
possibly damaging |
Het |
Fyb1 |
A |
T |
15: 6,610,350 (GRCm39) |
K308* |
probably null |
Het |
Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
Gm10309 |
A |
T |
17: 86,806,421 (GRCm39) |
|
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm5501 |
G |
A |
18: 9,917,417 (GRCm39) |
|
noncoding transcript |
Het |
Gm6309 |
A |
T |
5: 146,104,992 (GRCm39) |
V307D |
probably benign |
Het |
Gm9871 |
T |
A |
6: 101,773,148 (GRCm39) |
|
noncoding transcript |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Herc3 |
T |
A |
6: 58,871,528 (GRCm39) |
V70E |
possibly damaging |
Het |
Hes7 |
A |
G |
11: 69,012,415 (GRCm39) |
E41G |
probably damaging |
Het |
Ifi27l2b |
T |
C |
12: 103,422,046 (GRCm39) |
D106G |
unknown |
Het |
Igfbp6 |
A |
T |
15: 102,056,616 (GRCm39) |
Y184F |
probably damaging |
Het |
Isyna1 |
A |
G |
8: 71,047,352 (GRCm39) |
Y25C |
probably damaging |
Het |
Kcng3 |
G |
T |
17: 83,938,563 (GRCm39) |
T162K |
possibly damaging |
Het |
Krt36 |
T |
C |
11: 99,994,987 (GRCm39) |
D195G |
possibly damaging |
Het |
Lrwd1 |
A |
T |
5: 136,161,093 (GRCm39) |
|
probably null |
Het |
Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
Myo5a |
A |
T |
9: 75,059,213 (GRCm39) |
E480D |
probably damaging |
Het |
Myrf |
T |
A |
19: 10,194,087 (GRCm39) |
D690V |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,578,312 (GRCm39) |
I684M |
probably damaging |
Het |
Nlrc3 |
C |
T |
16: 3,781,589 (GRCm39) |
A607T |
probably damaging |
Het |
Nuak1 |
A |
T |
10: 84,245,584 (GRCm39) |
I87N |
probably damaging |
Het |
Odad2 |
G |
T |
18: 7,211,496 (GRCm39) |
Q793K |
probably benign |
Het |
Or5p66 |
T |
G |
7: 107,885,599 (GRCm39) |
T245P |
probably damaging |
Het |
Or5w11 |
T |
C |
2: 87,459,475 (GRCm39) |
|
probably null |
Het |
Or8b4 |
A |
T |
9: 37,830,647 (GRCm39) |
E236D |
probably damaging |
Het |
Osbpl9 |
T |
A |
4: 108,919,763 (GRCm39) |
R689* |
probably null |
Het |
Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
Prss40 |
A |
T |
1: 34,591,598 (GRCm39) |
|
probably benign |
Het |
Ptprd |
T |
A |
4: 75,972,839 (GRCm39) |
|
probably null |
Het |
Rft1 |
T |
C |
14: 30,385,183 (GRCm39) |
|
probably benign |
Het |
Rftn2 |
C |
T |
1: 55,253,445 (GRCm39) |
V53I |
probably damaging |
Het |
Rnaset2a |
T |
C |
17: 8,350,879 (GRCm39) |
Y167C |
probably damaging |
Het |
Schip1 |
T |
C |
3: 68,315,560 (GRCm39) |
|
probably benign |
Het |
Scn5a |
A |
C |
9: 119,359,118 (GRCm39) |
L643R |
possibly damaging |
Het |
Shroom3 |
T |
A |
5: 93,090,877 (GRCm39) |
M1128K |
probably benign |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Slc14a2 |
A |
G |
18: 78,252,257 (GRCm39) |
L18P |
probably benign |
Het |
Slc22a3 |
C |
T |
17: 12,642,691 (GRCm39) |
V509M |
probably damaging |
Het |
Slc7a5 |
A |
C |
8: 122,610,381 (GRCm39) |
F478V |
probably benign |
Het |
Smc1b |
T |
A |
15: 84,980,859 (GRCm39) |
N803I |
probably benign |
Het |
Snf8 |
T |
A |
11: 95,932,551 (GRCm39) |
N115K |
probably damaging |
Het |
Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
Tmem248 |
T |
A |
5: 130,258,429 (GRCm39) |
F41I |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,703,700 (GRCm39) |
V285A |
probably damaging |
Het |
Tsen15 |
T |
C |
1: 152,247,534 (GRCm39) |
T153A |
probably damaging |
Het |
Usp34 |
T |
G |
11: 23,304,846 (GRCm39) |
S360A |
probably benign |
Het |
Wdr24 |
T |
C |
17: 26,047,314 (GRCm39) |
|
probably null |
Het |
Zbtb2 |
G |
A |
10: 4,319,456 (GRCm39) |
T190I |
probably benign |
Het |
Zranb3 |
T |
C |
1: 127,891,613 (GRCm39) |
S788G |
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 |
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 |
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'- GCCAGGGCATTGAAGAAACC -3'
(R):5'- GATAAGAGCTAGGATGATTGGCTGC -3'
Sequencing Primer
(F):5'- GGGCATTGAAGAAACCCATCC -3'
(R):5'- AGCTAGGATGATTGGCTGCTGAAG -3'
|
Posted On |
2017-01-03 |