Incidental Mutation 'R4712:Tmprss7'
| ID |
394799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| MMRRC Submission |
041981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R4712 (G1)
|
| Quality Score |
214 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45511123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 85
(I85N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
| AlphaFold |
Q8BIK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114562
AA Change: I85N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: I85N
| 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: ENSMUST00000178150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178323
|
| Meta Mutation Damage Score |
0.2262 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
G |
T |
15: 83,111,810 (GRCm39) |
N324K |
probably damaging |
Het |
| Ahcyl1 |
A |
G |
3: 107,574,547 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,641,382 (GRCm39) |
N343K |
probably benign |
Het |
| Batf2 |
C |
A |
19: 6,221,357 (GRCm39) |
Q56K |
probably benign |
Het |
| Cfh |
A |
T |
1: 140,036,274 (GRCm39) |
V691D |
probably damaging |
Het |
| Chst10 |
T |
C |
1: 38,904,922 (GRCm39) |
Y257C |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,228,051 (GRCm39) |
L290Q |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,407,416 (GRCm39) |
T456S |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,001,995 (GRCm39) |
|
probably null |
Het |
| Efhb |
T |
C |
17: 53,758,697 (GRCm39) |
K313R |
probably damaging |
Het |
| Eprs1 |
T |
A |
1: 185,160,305 (GRCm39) |
N1500K |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,183,236 (GRCm39) |
T1748A |
probably benign |
Het |
| Gfra2 |
T |
A |
14: 71,163,377 (GRCm39) |
L87H |
probably damaging |
Het |
| Gfral |
T |
A |
9: 76,100,727 (GRCm39) |
Y237F |
possibly damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,974 (GRCm39) |
N361D |
probably benign |
Het |
| Gsdmc |
G |
T |
15: 63,651,386 (GRCm39) |
T272N |
probably benign |
Het |
| Hspe1 |
T |
A |
1: 55,128,269 (GRCm39) |
S21R |
probably benign |
Het |
| Kctd16 |
G |
T |
18: 40,390,233 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,868,958 (GRCm39) |
I483N |
probably damaging |
Het |
| Kif4-ps |
T |
C |
12: 101,112,534 (GRCm39) |
|
noncoding transcript |
Het |
| Lpp |
T |
C |
16: 24,580,407 (GRCm39) |
V166A |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,336,895 (GRCm39) |
D1292E |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,250,575 (GRCm39) |
Y401H |
probably damaging |
Het |
| Msh2 |
T |
G |
17: 87,985,813 (GRCm39) |
|
probably benign |
Het |
| Myef2 |
A |
T |
2: 124,930,757 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,235,660 (GRCm39) |
Q598L |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,764 (GRCm39) |
V125A |
probably benign |
Het |
| Or1n1 |
A |
T |
2: 36,750,381 (GRCm39) |
|
probably null |
Het |
| Or2b4 |
T |
A |
17: 38,116,591 (GRCm39) |
L185* |
probably null |
Het |
| Or9k7 |
G |
A |
10: 130,046,291 (GRCm39) |
T236I |
possibly damaging |
Het |
| Pcdh9 |
C |
A |
14: 94,126,067 (GRCm39) |
L34F |
probably damaging |
Het |
| Pcdha3 |
A |
T |
18: 37,079,560 (GRCm39) |
I101F |
probably damaging |
Het |
| Pced1b |
A |
G |
15: 97,282,675 (GRCm39) |
E238G |
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,258,994 (GRCm39) |
N1131K |
probably damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,060 (GRCm39) |
S99R |
probably damaging |
Het |
| Qng1 |
G |
A |
13: 58,529,617 (GRCm39) |
R332C |
probably benign |
Het |
| Rbp3 |
T |
C |
14: 33,682,615 (GRCm39) |
S1116P |
probably damaging |
Het |
| Rhobtb2 |
T |
C |
14: 70,037,160 (GRCm39) |
D88G |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,379,394 (GRCm39) |
E432G |
probably benign |
Het |
| Sh3rf1 |
A |
G |
8: 61,814,793 (GRCm39) |
T451A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Siva1 |
T |
A |
12: 112,613,336 (GRCm39) |
D61E |
probably benign |
Het |
| Skor1 |
A |
C |
9: 63,046,855 (GRCm39) |
|
probably null |
Het |
| Slc20a1 |
A |
G |
2: 129,041,611 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
A |
G |
4: 150,252,926 (GRCm39) |
E522G |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,726,958 (GRCm39) |
D408E |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 121,073,436 (GRCm39) |
I551N |
probably benign |
Het |
| Zfat |
A |
T |
15: 67,982,324 (GRCm39) |
|
probably null |
Het |
| Zfp101 |
C |
A |
17: 33,613,457 (GRCm39) |
|
probably null |
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 |
|
|
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'- GAAATGGTGGACAATTCTGATGGC -3'
(R):5'- ACATCTCCATCCAGGTGGTCAG -3'
Sequencing Primer
(F):5'- GGACAATTCTGATGGCTTTCC -3'
(R):5'- TCAGTGTCCCAGGGAAGCTAC -3'
|
| Posted On |
2016-06-17 |
Incidental Mutation