Incidental Mutation 'R6221:Thbs1'
| ID |
503996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thbs1
|
| Ensembl Gene |
ENSMUSG00000040152 |
| Gene Name |
thrombospondin 1 |
| Synonyms |
TSP-1, TSP1, tbsp1, Thbs-1 |
| MMRRC Submission |
044432-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6221 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
117942357-117957614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117950478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 704
(L704M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039559]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039559
AA Change: L704M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152
AA Change: L704M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
TSPN
|
24 |
221 |
2.68e-60 |
SMART |
|
low complexity region
|
237 |
249 |
N/A |
INTRINSIC |
|
coiled coil region
|
292 |
315 |
N/A |
INTRINSIC |
|
VWC
|
319 |
373 |
3.6e-20 |
SMART |
|
TSP1
|
383 |
430 |
4.21e-12 |
SMART |
|
TSP1
|
439 |
491 |
3.04e-18 |
SMART |
|
TSP1
|
496 |
548 |
8.6e-18 |
SMART |
|
EGF
|
551 |
588 |
3.88e-3 |
SMART |
|
EGF
|
592 |
646 |
1.69e1 |
SMART |
|
EGF
|
650 |
691 |
7.13e-2 |
SMART |
|
Pfam:TSP_3
|
728 |
763 |
5.8e-12 |
PFAM |
|
Pfam:TSP_3
|
763 |
786 |
2.1e-5 |
PFAM |
|
Pfam:TSP_3
|
787 |
822 |
3.3e-13 |
PFAM |
|
Pfam:TSP_3
|
822 |
845 |
1.1e-6 |
PFAM |
|
Pfam:TSP_3
|
846 |
883 |
2e-15 |
PFAM |
|
Pfam:TSP_3
|
884 |
919 |
8.3e-13 |
PFAM |
|
Pfam:TSP_3
|
920 |
954 |
4.9e-10 |
PFAM |
|
Pfam:TSP_C
|
973 |
1170 |
1.4e-99 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142588
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190311
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
99% (66/67) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice show partial prenatal lethality, lordosis, kyphosis, leukocytosis, multiorgan inflammation, lung hemorrhage, pneumonia, resistance to radiation and ischemic injury, altered blood pressure and vasoactive stress responses, eye pathology, and corneal and lacrimal gland dysfunction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,824,874 (GRCm39) |
M108V |
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 84,664,316 (GRCm39) |
Q1236* |
probably null |
Het |
| Adprhl1 |
T |
C |
8: 13,275,634 (GRCm39) |
I375V |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,982,765 (GRCm39) |
S3663P |
unknown |
Het |
| Cfap44 |
A |
T |
16: 44,257,549 (GRCm39) |
Q1028L |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Col1a2 |
T |
C |
6: 4,539,490 (GRCm39) |
S1253P |
unknown |
Het |
| Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 50,004,799 (GRCm39) |
Y949C |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,823,152 (GRCm39) |
Y164C |
probably benign |
Het |
| Evx1 |
T |
A |
6: 52,293,768 (GRCm39) |
V312E |
probably damaging |
Het |
| Fam240b |
T |
C |
13: 64,629,591 (GRCm39) |
N75S |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,186,898 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
G |
T |
2: 125,162,841 (GRCm39) |
D2148E |
probably benign |
Het |
| Fzd4 |
A |
G |
7: 89,054,100 (GRCm39) |
H69R |
probably damaging |
Het |
| Fzd6 |
T |
C |
15: 38,894,239 (GRCm39) |
V135A |
probably benign |
Het |
| Gimap8 |
T |
C |
6: 48,635,876 (GRCm39) |
L547S |
probably damaging |
Het |
| Gnrhr |
G |
A |
5: 86,333,262 (GRCm39) |
Q203* |
probably null |
Het |
| Gpaa1 |
T |
G |
15: 76,218,032 (GRCm39) |
V341G |
probably benign |
Het |
| Grik3 |
T |
A |
4: 125,598,916 (GRCm39) |
L828Q |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,074,383 (GRCm39) |
N1568S |
probably benign |
Het |
| Hpf1 |
T |
A |
8: 61,346,808 (GRCm39) |
V41E |
probably damaging |
Het |
| Hsd3b1 |
A |
T |
3: 98,760,472 (GRCm39) |
M173K |
probably benign |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,849 (GRCm39) |
I150T |
probably benign |
Het |
| Ica1 |
C |
G |
6: 8,644,181 (GRCm39) |
L369F |
possibly damaging |
Het |
| Inf2 |
T |
G |
12: 112,570,179 (GRCm39) |
S293A |
possibly damaging |
Het |
| Klra10 |
T |
C |
6: 130,246,235 (GRCm39) |
T247A |
probably benign |
Het |
| Kpna1 |
G |
A |
16: 35,841,058 (GRCm39) |
G91D |
probably benign |
Het |
| Ldlrap1 |
C |
T |
4: 134,484,671 (GRCm39) |
E108K |
probably damaging |
Het |
| Ltb4r2 |
C |
T |
14: 55,999,540 (GRCm39) |
R54W |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,299,643 (GRCm39) |
F1797S |
probably benign |
Het |
| Mlh3 |
C |
A |
12: 85,315,192 (GRCm39) |
Q331H |
possibly damaging |
Het |
| Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
| Odad1 |
T |
C |
7: 45,596,903 (GRCm39) |
L410P |
probably damaging |
Het |
| Or5b124 |
T |
A |
19: 13,610,830 (GRCm39) |
Y118* |
probably null |
Het |
| Oxct2b |
T |
C |
4: 123,010,601 (GRCm39) |
Y174H |
probably damaging |
Het |
| Pakap |
C |
T |
4: 57,855,618 (GRCm39) |
Q559* |
probably null |
Het |
| Pclo |
G |
A |
5: 14,725,327 (GRCm39) |
R1395Q |
unknown |
Het |
| Ppara |
A |
G |
15: 85,661,881 (GRCm39) |
I41V |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,657,753 (GRCm39) |
I766K |
probably damaging |
Het |
| Ppm1j |
A |
G |
3: 104,693,092 (GRCm39) |
N483S |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,336,236 (GRCm39) |
I1478T |
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,267,253 (GRCm39) |
Y394C |
probably damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,019,175 (GRCm39) |
V121A |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,702,316 (GRCm39) |
Q610R |
probably null |
Het |
| Slc1a6 |
A |
G |
10: 78,635,910 (GRCm39) |
E325G |
probably damaging |
Het |
| Slc7a13 |
A |
G |
4: 19,839,305 (GRCm39) |
I303V |
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,630,362 (GRCm39) |
V1123E |
probably damaging |
Het |
| Smco1 |
G |
A |
16: 32,092,023 (GRCm39) |
V34I |
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,197,949 (GRCm39) |
R304G |
probably benign |
Het |
| Spata31f1e |
A |
T |
4: 42,793,153 (GRCm39) |
N326K |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,009,342 (GRCm39) |
D293G |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,440,639 (GRCm39) |
P1751Q |
probably damaging |
Het |
| Syt14 |
A |
T |
1: 192,612,908 (GRCm39) |
Y631N |
probably damaging |
Het |
| Taar3 |
A |
G |
10: 23,825,970 (GRCm39) |
N172S |
possibly damaging |
Het |
| Tank |
A |
G |
2: 61,480,427 (GRCm39) |
E321G |
probably damaging |
Het |
| Tcstv5 |
T |
G |
13: 120,411,534 (GRCm39) |
H24P |
probably damaging |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Togaram1 |
A |
T |
12: 65,013,320 (GRCm39) |
E190D |
probably damaging |
Het |
| Traf1 |
A |
C |
2: 34,838,313 (GRCm39) |
V175G |
probably benign |
Het |
| Trib3 |
A |
T |
2: 152,180,528 (GRCm39) |
C222S |
probably damaging |
Het |
| Tsen34 |
T |
A |
7: 3,698,543 (GRCm39) |
I229N |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,419,114 (GRCm39) |
D1370G |
probably benign |
Het |
| Ugt1a5 |
G |
A |
1: 88,093,964 (GRCm39) |
R64H |
probably benign |
Het |
| Vdac2 |
G |
A |
14: 21,895,246 (GRCm39) |
G265R |
possibly damaging |
Het |
| Vdac3 |
A |
G |
8: 23,078,759 (GRCm39) |
V17A |
possibly damaging |
Het |
| Yif1b |
C |
T |
7: 28,945,207 (GRCm39) |
T220I |
possibly damaging |
Het |
| Zfp846 |
T |
G |
9: 20,504,591 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Zwilch |
A |
T |
9: 64,068,665 (GRCm39) |
H181Q |
probably damaging |
Het |
|
| Other mutations in Thbs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:Thbs1
|
APN |
2 |
117,953,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00920:Thbs1
|
APN |
2 |
117,943,682 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01295:Thbs1
|
APN |
2 |
117,948,808 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01649:Thbs1
|
APN |
2 |
117,945,463 (GRCm39) |
missense |
probably benign |
|
|
IGL02077:Thbs1
|
APN |
2 |
117,943,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02251:Thbs1
|
APN |
2 |
117,943,999 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02263:Thbs1
|
APN |
2 |
117,950,361 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02392:Thbs1
|
APN |
2 |
117,945,141 (GRCm39) |
missense |
probably benign |
|
|
IGL02393:Thbs1
|
APN |
2 |
117,953,580 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02411:Thbs1
|
APN |
2 |
117,945,451 (GRCm39) |
missense |
probably benign |
|
|
IGL02659:Thbs1
|
APN |
2 |
117,945,273 (GRCm39) |
missense |
probably benign |
0.29 |
|
Stark
|
UTSW |
2 |
117,951,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0014:Thbs1
|
UTSW |
2 |
117,943,831 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0042:Thbs1
|
UTSW |
2 |
117,953,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Thbs1
|
UTSW |
2 |
117,954,395 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0240:Thbs1
|
UTSW |
2 |
117,944,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Thbs1
|
UTSW |
2 |
117,944,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0316:Thbs1
|
UTSW |
2 |
117,948,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0393:Thbs1
|
UTSW |
2 |
117,943,472 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0678:Thbs1
|
UTSW |
2 |
117,953,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1037:Thbs1
|
UTSW |
2 |
117,953,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:Thbs1
|
UTSW |
2 |
117,944,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1454:Thbs1
|
UTSW |
2 |
117,953,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1571:Thbs1
|
UTSW |
2 |
117,949,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1702:Thbs1
|
UTSW |
2 |
117,943,923 (GRCm39) |
missense |
probably benign |
|
|
R2035:Thbs1
|
UTSW |
2 |
117,948,821 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2068:Thbs1
|
UTSW |
2 |
117,954,018 (GRCm39) |
nonsense |
probably null |
|
|
R2171:Thbs1
|
UTSW |
2 |
117,953,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2844:Thbs1
|
UTSW |
2 |
117,948,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2870:Thbs1
|
UTSW |
2 |
117,949,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Thbs1
|
UTSW |
2 |
117,949,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3620:Thbs1
|
UTSW |
2 |
117,951,640 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3621:Thbs1
|
UTSW |
2 |
117,951,640 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3726:Thbs1
|
UTSW |
2 |
117,945,191 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4499:Thbs1
|
UTSW |
2 |
117,950,431 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4524:Thbs1
|
UTSW |
2 |
117,953,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Thbs1
|
UTSW |
2 |
117,949,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4596:Thbs1
|
UTSW |
2 |
117,945,236 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4646:Thbs1
|
UTSW |
2 |
117,948,810 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4783:Thbs1
|
UTSW |
2 |
117,945,273 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4836:Thbs1
|
UTSW |
2 |
117,945,499 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4943:Thbs1
|
UTSW |
2 |
117,943,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Thbs1
|
UTSW |
2 |
117,945,259 (GRCm39) |
missense |
probably benign |
|
|
R5014:Thbs1
|
UTSW |
2 |
117,950,518 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5062:Thbs1
|
UTSW |
2 |
117,951,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5363:Thbs1
|
UTSW |
2 |
117,953,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Thbs1
|
UTSW |
2 |
117,943,636 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5432:Thbs1
|
UTSW |
2 |
117,945,164 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5788:Thbs1
|
UTSW |
2 |
117,952,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6327:Thbs1
|
UTSW |
2 |
117,943,137 (GRCm39) |
missense |
unknown |
|
|
R6466:Thbs1
|
UTSW |
2 |
117,950,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6480:Thbs1
|
UTSW |
2 |
117,949,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6794:Thbs1
|
UTSW |
2 |
117,950,519 (GRCm39) |
splice site |
probably null |
|
|
R6983:Thbs1
|
UTSW |
2 |
117,950,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7284:Thbs1
|
UTSW |
2 |
117,949,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7320:Thbs1
|
UTSW |
2 |
117,945,438 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7467:Thbs1
|
UTSW |
2 |
117,948,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Thbs1
|
UTSW |
2 |
117,951,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7552:Thbs1
|
UTSW |
2 |
117,943,843 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7575:Thbs1
|
UTSW |
2 |
117,953,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7870:Thbs1
|
UTSW |
2 |
117,945,508 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7943:Thbs1
|
UTSW |
2 |
117,950,098 (GRCm39) |
splice site |
probably null |
|
|
R8267:Thbs1
|
UTSW |
2 |
117,952,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8402:Thbs1
|
UTSW |
2 |
117,946,359 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8672:Thbs1
|
UTSW |
2 |
117,943,719 (GRCm39) |
missense |
probably benign |
|
|
R8726:Thbs1
|
UTSW |
2 |
117,949,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8784:Thbs1
|
UTSW |
2 |
117,943,613 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9010:Thbs1
|
UTSW |
2 |
117,953,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Thbs1
|
UTSW |
2 |
117,953,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9416:Thbs1
|
UTSW |
2 |
117,947,983 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9474:Thbs1
|
UTSW |
2 |
117,950,518 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9544:Thbs1
|
UTSW |
2 |
117,953,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Thbs1
|
UTSW |
2 |
117,949,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9701:Thbs1
|
UTSW |
2 |
117,950,716 (GRCm39) |
missense |
probably benign |
0.05 |
|
RF039:Thbs1
|
UTSW |
2 |
117,953,346 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF054:Thbs1
|
UTSW |
2 |
117,953,346 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
X0019:Thbs1
|
UTSW |
2 |
117,943,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Thbs1
|
UTSW |
2 |
117,953,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Thbs1
|
UTSW |
2 |
117,951,458 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1176:Thbs1
|
UTSW |
2 |
117,943,960 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1177:Thbs1
|
UTSW |
2 |
117,948,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGGGATACTGTACCCTCAG -3'
(R):5'- GGCGACACAGTTAGCATTCG -3'
Sequencing Primer
(F):5'- TCAGGTGTGCAAACCGC -3'
(R):5'- GCTTGTTTGGCGCACAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation