Incidental Mutation 'R6149:Tmprss7'
ID |
489099 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmprss7
|
Ensembl Gene |
ENSMUSG00000033177 |
Gene Name |
transmembrane serine protease 7 |
Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
MMRRC Submission |
044296-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R6149 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 45494268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 412
(C412*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114562]
|
AlphaFold |
Q8BIK6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000114562
AA Change: C412*
|
SMART Domains |
Protein: ENSMUSP00000110209 Gene: ENSMUSG00000033177 AA Change: C412*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930558K02Rik |
T |
A |
1: 161,777,211 (GRCm39) |
R115S |
probably benign |
Het |
Adgre1 |
A |
G |
17: 57,752,018 (GRCm39) |
K589E |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,330,893 (GRCm39) |
L74Q |
probably damaging |
Het |
Avil |
A |
G |
10: 126,842,451 (GRCm39) |
I77V |
probably benign |
Het |
Best2 |
T |
C |
8: 85,739,896 (GRCm39) |
E57G |
probably benign |
Het |
Cacna1a |
T |
C |
8: 85,296,581 (GRCm39) |
C1200R |
probably damaging |
Het |
Catsperb |
T |
A |
12: 101,516,098 (GRCm39) |
I578K |
probably damaging |
Het |
Chsy1 |
A |
G |
7: 65,775,133 (GRCm39) |
Y154C |
probably damaging |
Het |
Chuk |
A |
G |
19: 44,090,270 (GRCm39) |
V74A |
probably damaging |
Het |
Ckb |
T |
C |
12: 111,638,248 (GRCm39) |
S49G |
probably damaging |
Het |
Crtac1 |
A |
G |
19: 42,272,048 (GRCm39) |
Y632H |
unknown |
Het |
Ern1 |
C |
A |
11: 106,296,641 (GRCm39) |
E770* |
probably null |
Het |
Fam114a2 |
A |
C |
11: 57,378,415 (GRCm39) |
V450G |
probably benign |
Het |
Fgf15 |
C |
T |
7: 144,453,506 (GRCm39) |
Q125* |
probably null |
Het |
Frem2 |
A |
T |
3: 53,458,762 (GRCm39) |
S2036T |
probably damaging |
Het |
Fxr2 |
G |
A |
11: 69,540,030 (GRCm39) |
V296I |
probably benign |
Het |
Gm15264 |
C |
A |
3: 94,640,736 (GRCm39) |
|
noncoding transcript |
Het |
Ifi213 |
A |
T |
1: 173,421,581 (GRCm39) |
S103T |
probably benign |
Het |
Igkv5-37 |
T |
A |
6: 69,940,472 (GRCm39) |
Q57H |
probably damaging |
Het |
Il1rap |
A |
G |
16: 26,530,969 (GRCm39) |
Y435C |
probably damaging |
Het |
Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
Lcor |
T |
A |
19: 41,573,641 (GRCm39) |
W799R |
probably damaging |
Het |
Lnp1 |
C |
T |
16: 56,737,735 (GRCm39) |
E118K |
probably benign |
Het |
Lrif1 |
A |
C |
3: 106,639,643 (GRCm39) |
K243Q |
possibly damaging |
Het |
Lrp1b |
G |
T |
2: 40,765,165 (GRCm39) |
|
probably null |
Het |
Lvrn |
G |
A |
18: 47,017,499 (GRCm39) |
V610I |
probably benign |
Het |
Med1 |
T |
C |
11: 98,074,679 (GRCm39) |
K67R |
possibly damaging |
Het |
Midn |
T |
C |
10: 79,990,291 (GRCm39) |
S278P |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,377,885 (GRCm39) |
V35A |
possibly damaging |
Het |
Nynrin |
A |
T |
14: 56,091,780 (GRCm39) |
Q32L |
possibly damaging |
Het |
Oog1 |
C |
T |
12: 87,653,043 (GRCm39) |
T113I |
possibly damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,628 (GRCm39) |
L139P |
probably damaging |
Het |
Or10j3 |
G |
T |
1: 173,031,582 (GRCm39) |
V220F |
probably benign |
Het |
Or4x11 |
C |
T |
2: 89,867,860 (GRCm39) |
A199V |
probably benign |
Het |
Or5b21 |
A |
T |
19: 12,839,723 (GRCm39) |
I195F |
probably benign |
Het |
Or6a2 |
T |
C |
7: 106,600,807 (GRCm39) |
I87V |
probably benign |
Het |
Otogl |
C |
T |
10: 107,717,314 (GRCm39) |
V386I |
probably benign |
Het |
Patj |
A |
G |
4: 98,312,562 (GRCm39) |
N300S |
possibly damaging |
Het |
Pcdhb16 |
T |
A |
18: 37,612,208 (GRCm39) |
D389E |
possibly damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,488,939 (GRCm39) |
I699V |
probably benign |
Het |
Pfas |
A |
G |
11: 68,882,771 (GRCm39) |
V790A |
probably benign |
Het |
Plppr4 |
A |
T |
3: 117,116,043 (GRCm39) |
C605S |
probably benign |
Het |
Ppl |
G |
A |
16: 4,925,460 (GRCm39) |
Q60* |
probably null |
Het |
Ppp1r1c |
A |
G |
2: 79,586,810 (GRCm39) |
K52R |
possibly damaging |
Het |
Pramel29 |
A |
G |
4: 143,933,983 (GRCm39) |
S375P |
probably damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Rpe65 |
G |
A |
3: 159,319,780 (GRCm39) |
E217K |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,892 (GRCm39) |
I560T |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,683,903 (GRCm39) |
S3054G |
probably benign |
Het |
Serpinb6a |
A |
T |
13: 34,102,343 (GRCm39) |
L273H |
probably damaging |
Het |
Sf3b1 |
A |
T |
1: 55,046,666 (GRCm39) |
W293R |
probably damaging |
Het |
Sik1 |
A |
T |
17: 32,067,771 (GRCm39) |
S435T |
possibly damaging |
Het |
Slc2a12 |
G |
T |
10: 22,540,401 (GRCm39) |
M85I |
probably benign |
Het |
Stk36 |
T |
C |
1: 74,673,388 (GRCm39) |
S1094P |
probably benign |
Het |
Tctn1 |
A |
T |
5: 122,384,649 (GRCm39) |
Y393N |
probably benign |
Het |
Tex9 |
C |
T |
9: 72,369,282 (GRCm39) |
|
probably null |
Het |
Thbs2 |
A |
G |
17: 14,899,942 (GRCm39) |
|
probably null |
Het |
Tpp1 |
T |
C |
7: 105,396,934 (GRCm39) |
T399A |
probably benign |
Het |
Trim25 |
T |
A |
11: 88,906,362 (GRCm39) |
V387D |
probably benign |
Het |
Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
Vill |
T |
G |
9: 118,887,482 (GRCm39) |
V82G |
possibly damaging |
Het |
Vmn1r189 |
T |
C |
13: 22,286,054 (GRCm39) |
D261G |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r111 |
G |
A |
17: 22,767,796 (GRCm39) |
T567I |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,786,400 (GRCm39) |
Y401C |
probably damaging |
Het |
Zc3h11a |
G |
A |
1: 133,566,613 (GRCm39) |
R69* |
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 |
|
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 |
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'- GCTGAGGATCTGAAGTCTGCTAC -3'
(R):5'- CTGGATAACACCTACAGTAGAGC -3'
Sequencing Primer
(F):5'- TGAAGTCTGCTACAACCACAGGTG -3'
(R):5'- GTAGAGCATCCTTAAAACAACAAGC -3'
|
Posted On |
2017-10-10 |