Incidental Mutation 'R0219:Tmprss7'
| ID |
33752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmprss7
|
| Ensembl Gene |
ENSMUSG00000033177 |
| Gene Name |
transmembrane serine protease 7 |
| Synonyms |
B230219I23Rik, LOC385645, matriptase-3 |
| MMRRC Submission |
038468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R0219 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
45476678-45514021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45476820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 814
(V814A)
|
| 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: V814A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: V814A
| 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 |
0.3602 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.3%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,849,885 (GRCm39) |
|
probably benign |
Het |
| Acacb |
T |
A |
5: 114,371,005 (GRCm39) |
M1749K |
possibly damaging |
Het |
| Aff1 |
GCTCTCTCTC |
GCTCTCTCTCTC |
5: 103,958,906 (GRCm39) |
|
probably benign |
Het |
| Ankle2 |
C |
T |
5: 110,399,511 (GRCm39) |
R624* |
probably null |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,446,640 (GRCm39) |
|
probably benign |
Het |
| Ccdc116 |
T |
A |
16: 16,959,476 (GRCm39) |
R404S |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,614,678 (GRCm39) |
|
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,916,846 (GRCm39) |
K534R |
probably damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,348 (GRCm39) |
I112V |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,801,558 (GRCm39) |
L795R |
possibly damaging |
Het |
| Cilp |
C |
A |
9: 65,176,872 (GRCm39) |
L43I |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,720,976 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
C |
A |
1: 136,360,047 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,865,996 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,658,384 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
G |
1: 34,342,559 (GRCm39) |
S5030A |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,106,443 (GRCm39) |
|
probably benign |
Het |
| Farp1 |
C |
A |
14: 121,481,012 (GRCm39) |
P471Q |
possibly damaging |
Het |
| Fbp2 |
A |
T |
13: 63,001,862 (GRCm39) |
F118I |
probably damaging |
Het |
| Fcer1g |
A |
G |
1: 171,058,795 (GRCm39) |
V31A |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,717,618 (GRCm39) |
V21A |
probably benign |
Het |
| Gm9912 |
T |
C |
3: 148,891,131 (GRCm39) |
I1V |
unknown |
Het |
| Guf1 |
G |
A |
5: 69,716,929 (GRCm39) |
A164T |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,876 (GRCm39) |
H147R |
possibly damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,066,474 (GRCm39) |
|
probably benign |
Het |
| Iglon5 |
A |
T |
7: 43,126,261 (GRCm39) |
V214E |
probably damaging |
Het |
| Isx |
C |
A |
8: 75,616,589 (GRCm39) |
|
probably null |
Het |
| Kank4 |
T |
C |
4: 98,666,702 (GRCm39) |
N582D |
probably benign |
Het |
| Kcp |
T |
A |
6: 29,495,784 (GRCm39) |
R773W |
probably damaging |
Het |
| Kdm4c |
T |
C |
4: 74,291,857 (GRCm39) |
C825R |
probably damaging |
Het |
| Krt25 |
G |
A |
11: 99,208,885 (GRCm39) |
T315M |
probably benign |
Het |
| Lrp5 |
A |
T |
19: 3,647,349 (GRCm39) |
S1298T |
probably damaging |
Het |
| Map3k10 |
T |
C |
7: 27,356,156 (GRCm39) |
D921G |
probably damaging |
Het |
| Mrgprx1 |
C |
A |
7: 47,671,294 (GRCm39) |
W151L |
probably damaging |
Het |
| Mylk3 |
T |
A |
8: 86,081,873 (GRCm39) |
D375V |
probably damaging |
Het |
| Nav3 |
C |
T |
10: 109,702,791 (GRCm39) |
|
probably null |
Het |
| Ncan |
A |
G |
8: 70,567,984 (GRCm39) |
S43P |
probably benign |
Het |
| Necab3 |
G |
T |
2: 154,388,013 (GRCm39) |
Q292K |
probably benign |
Het |
| Nptx2 |
T |
C |
5: 144,484,950 (GRCm39) |
S148P |
probably damaging |
Het |
| Or2at4 |
A |
T |
7: 99,385,135 (GRCm39) |
I262L |
probably benign |
Het |
| Or6p1 |
G |
A |
1: 174,258,032 (GRCm39) |
V13I |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,419,006 (GRCm39) |
E794G |
possibly damaging |
Het |
| Pus7 |
T |
C |
5: 23,980,964 (GRCm39) |
Y133C |
possibly damaging |
Het |
| Rad21l |
A |
G |
2: 151,496,508 (GRCm39) |
|
probably benign |
Het |
| Rptor |
A |
T |
11: 119,712,603 (GRCm39) |
|
probably benign |
Het |
| Sart1 |
C |
A |
19: 5,438,424 (GRCm39) |
A78S |
probably benign |
Het |
| Shkbp1 |
T |
C |
7: 27,051,486 (GRCm39) |
E191G |
probably benign |
Het |
| Slc6a18 |
A |
T |
13: 73,822,751 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
T |
C |
10: 9,646,272 (GRCm39) |
T147A |
probably benign |
Het |
| Sv2b |
A |
G |
7: 74,807,015 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
T |
12: 76,088,778 (GRCm39) |
K5045N |
probably damaging |
Het |
| Tmem174 |
A |
C |
13: 98,773,347 (GRCm39) |
M161R |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,021,225 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
C |
1: 150,319,009 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,730,572 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,157,568 (GRCm39) |
L2375Q |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,600,537 (GRCm39) |
E1987G |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,560,195 (GRCm39) |
T1365A |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,605,072 (GRCm39) |
Y128* |
probably null |
Het |
| Vmn2r5 |
A |
G |
3: 64,411,734 (GRCm39) |
V278A |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,832,479 (GRCm39) |
S2809N |
probably benign |
Het |
| Zfp212 |
G |
A |
6: 47,903,619 (GRCm39) |
R68H |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,253,160 (GRCm39) |
L33Q |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,211,255 (GRCm39) |
S185G |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,831,508 (GRCm39) |
|
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 |
|
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 |
|
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'- TGACAGTCAGGTATGGCTTCCCAG -3'
(R):5'- ACGACTACTCCTTTCACAGATGCAATG -3'
Sequencing Primer
(F):5'- TTCTTGCATTGGAACACAGAGG -3'
(R):5'- CCATGTCAGAAGGTGACATTTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation