Incidental Mutation 'PIT4283001:Thbd'
| ID |
554348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thbd
|
| Ensembl Gene |
ENSMUSG00000074743 |
| Gene Name |
thrombomodulin |
| Synonyms |
CD141, TM |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4283001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
148246391-148250108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 148249003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 288
(N288K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099270]
|
| AlphaFold |
P15306 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099270
AA Change: N288K
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000096877
Gene: ENSMUSG00000074743
AA Change: N288K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
CLECT
|
24 |
166 |
2.78e-18 |
SMART |
|
EGF
|
243 |
280 |
2.2e1 |
SMART |
|
EGF
|
286 |
323 |
1.47e-3 |
SMART |
|
EGF_CA
|
324 |
362 |
7.81e-8 |
SMART |
|
EGF
|
367 |
404 |
3.57e-2 |
SMART |
|
EGF
|
406 |
439 |
2.53e1 |
SMART |
|
EGF
|
443 |
480 |
2.39e1 |
SMART |
|
low complexity region
|
490 |
511 |
N/A |
INTRINSIC |
|
transmembrane domain
|
519 |
541 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 93.2%
- 3x: 91.1%
- 10x: 86.5%
- 20x: 76.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants are growth retarded and die by embryonic day 9.5. Embryos develop further in vitro than in vivo suggesting maternal-fetal incompatibility. Endothelial cell-specific, conditional knockouts suffer fatal juvenile thromboses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
A |
C |
10: 76,285,093 (GRCm39) |
M1L |
probably benign |
Het |
| Aacs |
C |
A |
5: 125,561,719 (GRCm39) |
A119D |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,863,693 (GRCm39) |
V216D |
probably damaging |
Het |
| Adap2 |
T |
A |
11: 80,068,089 (GRCm39) |
L367H |
probably damaging |
Het |
| Adcy7 |
T |
A |
8: 89,042,120 (GRCm39) |
M373K |
probably damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,429,354 (GRCm39) |
L507P |
probably damaging |
Het |
| Brinp3 |
C |
T |
1: 146,777,161 (GRCm39) |
T536I |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,521,953 (GRCm39) |
D1718G |
probably damaging |
Het |
| Cacna2d1 |
A |
C |
5: 16,507,292 (GRCm39) |
Y347S |
probably benign |
Het |
| Carf |
C |
A |
1: 60,167,161 (GRCm39) |
P165T |
probably benign |
Het |
| Cplx3 |
T |
C |
9: 57,523,359 (GRCm39) |
E66G |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,151,917 (GRCm39) |
T523A |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,161,739 (GRCm39) |
S326P |
probably benign |
Het |
| Eif4enif1 |
A |
T |
11: 3,184,464 (GRCm39) |
E528D |
probably damaging |
Het |
| Elp2 |
G |
A |
18: 24,755,187 (GRCm39) |
D392N |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,482,577 (GRCm39) |
S3079P |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,490,244 (GRCm39) |
V3719F |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,917,897 (GRCm39) |
S1509C |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,614,064 (GRCm39) |
V693A |
probably benign |
Het |
| Frmpd4 |
C |
T |
X: 166,512,030 (GRCm39) |
R8H |
possibly damaging |
Het |
| Glud1 |
T |
A |
14: 34,058,129 (GRCm39) |
I380N |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,940,099 (GRCm39) |
S324G |
probably damaging |
Het |
| Gramd1b |
C |
T |
9: 40,366,752 (GRCm39) |
G72D |
probably benign |
Het |
| Gramd2b |
A |
T |
18: 56,622,735 (GRCm39) |
E299V |
probably damaging |
Het |
| Grin1 |
C |
T |
2: 25,187,864 (GRCm39) |
R544H |
probably damaging |
Het |
| Ifitm7 |
A |
T |
16: 13,801,471 (GRCm39) |
V96E |
probably damaging |
Het |
| Lsm14b |
T |
A |
2: 179,674,336 (GRCm39) |
M293K |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,946,432 (GRCm39) |
T1230S |
probably benign |
Het |
| Morc2b |
T |
A |
17: 33,355,042 (GRCm39) |
H910L |
probably benign |
Het |
| Mylip |
A |
G |
13: 45,560,110 (GRCm39) |
N247S |
possibly damaging |
Het |
| Nup50l |
A |
G |
6: 96,142,696 (GRCm39) |
I116T |
probably benign |
Het |
| Or4a73 |
T |
C |
2: 89,420,572 (GRCm39) |
M296V |
probably benign |
Het |
| Osbpl3 |
T |
C |
6: 50,323,068 (GRCm39) |
S264G |
probably benign |
Het |
| Pds5b |
C |
T |
5: 150,701,774 (GRCm39) |
R802W |
probably damaging |
Het |
| Pik3cg |
T |
C |
12: 32,255,864 (GRCm39) |
E41G |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,990,489 (GRCm39) |
I112T |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,020,921 (GRCm39) |
M1T |
probably null |
Het |
| Rtel1 |
T |
C |
2: 180,988,683 (GRCm39) |
I417T |
probably benign |
Het |
| Sirt1 |
A |
T |
10: 63,157,565 (GRCm39) |
N616K |
probably benign |
Het |
| Sirt6 |
T |
C |
10: 81,458,252 (GRCm39) |
S334G |
possibly damaging |
Het |
| Strc |
T |
C |
2: 121,205,788 (GRCm39) |
Y827C |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,597,594 (GRCm39) |
Y385H |
possibly damaging |
Het |
| Tgm5 |
T |
C |
2: 120,902,066 (GRCm39) |
E201G |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,169,064 (GRCm39) |
N1068K |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,904,756 (GRCm39) |
E361G |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,835,158 (GRCm39) |
N2736S |
|
Het |
| Vwa5b1 |
A |
G |
4: 138,327,574 (GRCm39) |
L334P |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,398,355 (GRCm39) |
S4226P |
unknown |
Het |
| Zdhhc24 |
T |
C |
19: 4,928,778 (GRCm39) |
M1T |
probably null |
Het |
|
| Other mutations in Thbd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01386:Thbd
|
APN |
2 |
148,249,602 (GRCm39) |
nonsense |
probably null |
|
|
IGL01510:Thbd
|
APN |
2 |
148,248,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01845:Thbd
|
APN |
2 |
148,249,016 (GRCm39) |
missense |
probably benign |
|
|
IGL01892:Thbd
|
APN |
2 |
148,248,988 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02039:Thbd
|
APN |
2 |
148,248,462 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02261:Thbd
|
APN |
2 |
148,248,401 (GRCm39) |
missense |
probably benign |
|
|
IGL02941:Thbd
|
APN |
2 |
148,248,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03110:Thbd
|
APN |
2 |
148,248,716 (GRCm39) |
missense |
probably benign |
|
|
IGL03111:Thbd
|
APN |
2 |
148,248,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
F5770:Thbd
|
UTSW |
2 |
148,249,110 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0102:Thbd
|
UTSW |
2 |
148,248,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Thbd
|
UTSW |
2 |
148,248,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1847:Thbd
|
UTSW |
2 |
148,249,604 (GRCm39) |
nonsense |
probably null |
|
|
R1957:Thbd
|
UTSW |
2 |
148,248,899 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2320:Thbd
|
UTSW |
2 |
148,248,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2362:Thbd
|
UTSW |
2 |
148,248,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2900:Thbd
|
UTSW |
2 |
148,248,134 (GRCm39) |
makesense |
probably null |
|
|
R3623:Thbd
|
UTSW |
2 |
148,248,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Thbd
|
UTSW |
2 |
148,248,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Thbd
|
UTSW |
2 |
148,249,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5296:Thbd
|
UTSW |
2 |
148,248,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Thbd
|
UTSW |
2 |
148,249,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5677:Thbd
|
UTSW |
2 |
148,249,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6581:Thbd
|
UTSW |
2 |
148,248,192 (GRCm39) |
missense |
probably benign |
|
|
R7139:Thbd
|
UTSW |
2 |
148,248,461 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7246:Thbd
|
UTSW |
2 |
148,248,405 (GRCm39) |
missense |
probably benign |
|
|
R7655:Thbd
|
UTSW |
2 |
148,249,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7656:Thbd
|
UTSW |
2 |
148,249,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Thbd
|
UTSW |
2 |
148,248,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7867:Thbd
|
UTSW |
2 |
148,249,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8398:Thbd
|
UTSW |
2 |
148,248,600 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8429:Thbd
|
UTSW |
2 |
148,249,457 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8986:Thbd
|
UTSW |
2 |
148,248,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7582:Thbd
|
UTSW |
2 |
148,249,110 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCGCCCTTGGTGTTAAC -3'
(R):5'- TTTCAAACGCTGCCGGTAGG -3'
Sequencing Primer
(F):5'- TGTTAACACAGAGCTGGGGAC -3'
(R):5'- CCGGAACTTCAGAGGGACAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation