Incidental Mutation 'R0854:Thsd1'
| ID |
82656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thsd1
|
| Ensembl Gene |
ENSMUSG00000031480 |
| Gene Name |
thrombospondin, type I, domain 1 |
| Synonyms |
4833423O18Rik, Tmtsp |
| MMRRC Submission |
039033-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0854 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
22717329-22751350 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 22748587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 433
(G433E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069828]
[ENSMUST00000160585]
[ENSMUST00000162447]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069828
AA Change: G486E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: G486E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
TSP1
|
342 |
392 |
4.55e-8 |
SMART |
|
low complexity region
|
396 |
408 |
N/A |
INTRINSIC |
|
transmembrane domain
|
413 |
435 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160585
AA Change: G433E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480
AA Change: G433E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
355 |
N/A |
INTRINSIC |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162447
AA Change: G425E
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
| 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 gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
G |
A |
11: 69,055,302 (GRCm39) |
|
probably null |
Het |
| Brox |
T |
G |
1: 183,069,322 (GRCm39) |
R128S |
possibly damaging |
Het |
| Cfap57 |
G |
A |
4: 118,419,069 (GRCm39) |
T1153I |
probably benign |
Het |
| Ddt |
C |
T |
10: 75,607,329 (GRCm39) |
R54H |
probably benign |
Het |
| Epm2aip1 |
T |
A |
9: 111,101,567 (GRCm39) |
L180* |
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,431,037 (GRCm39) |
I231V |
probably benign |
Het |
| Gng7 |
A |
G |
10: 80,787,507 (GRCm39) |
V52A |
possibly damaging |
Het |
| Hbb-bh2 |
T |
C |
7: 103,489,272 (GRCm39) |
H93R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,599,329 (GRCm39) |
H3292L |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,166,426 (GRCm39) |
E188G |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,149,973 (GRCm39) |
L1844P |
possibly damaging |
Het |
| Ncan |
G |
T |
8: 70,565,202 (GRCm39) |
R242S |
probably damaging |
Het |
| Nceh1 |
T |
A |
3: 27,295,468 (GRCm39) |
L243Q |
probably damaging |
Het |
| Notch4 |
T |
A |
17: 34,787,546 (GRCm39) |
S369T |
probably damaging |
Het |
| P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
| Pask |
T |
A |
1: 93,255,122 (GRCm39) |
K316M |
probably damaging |
Het |
| Pask |
T |
A |
1: 93,255,156 (GRCm39) |
T305S |
possibly damaging |
Het |
| Pask |
T |
C |
1: 93,255,134 (GRCm39) |
K312R |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,607,342 (GRCm39) |
V284A |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,739,408 (GRCm39) |
Y40C |
probably damaging |
Het |
| Sema6d |
C |
T |
2: 124,507,222 (GRCm39) |
T1010M |
probably damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,331,237 (GRCm39) |
I129N |
probably damaging |
Het |
| Tsc22d1 |
C |
T |
14: 76,655,641 (GRCm39) |
Q625* |
probably null |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn2r58 |
T |
G |
7: 41,486,562 (GRCm39) |
N778H |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,156,916 (GRCm39) |
V7I |
probably benign |
Het |
| Zranb1 |
T |
C |
7: 132,551,577 (GRCm39) |
V102A |
possibly damaging |
Het |
|
| Other mutations in Thsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01936:Thsd1
|
APN |
8 |
22,742,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02288:Thsd1
|
APN |
8 |
22,749,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02517:Thsd1
|
APN |
8 |
22,733,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02591:Thsd1
|
APN |
8 |
22,748,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03378:Thsd1
|
APN |
8 |
22,733,794 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0137:Thsd1
|
UTSW |
8 |
22,733,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0507:Thsd1
|
UTSW |
8 |
22,748,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1109:Thsd1
|
UTSW |
8 |
22,733,708 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1402:Thsd1
|
UTSW |
8 |
22,749,384 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1402:Thsd1
|
UTSW |
8 |
22,749,384 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1899:Thsd1
|
UTSW |
8 |
22,742,334 (GRCm39) |
splice site |
probably benign |
|
|
R1900:Thsd1
|
UTSW |
8 |
22,742,334 (GRCm39) |
splice site |
probably benign |
|
|
R2008:Thsd1
|
UTSW |
8 |
22,749,247 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2048:Thsd1
|
UTSW |
8 |
22,749,333 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2090:Thsd1
|
UTSW |
8 |
22,749,673 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2165:Thsd1
|
UTSW |
8 |
22,728,538 (GRCm39) |
intron |
probably benign |
|
|
R2209:Thsd1
|
UTSW |
8 |
22,748,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3831:Thsd1
|
UTSW |
8 |
22,733,132 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3833:Thsd1
|
UTSW |
8 |
22,733,132 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3847:Thsd1
|
UTSW |
8 |
22,749,427 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4049:Thsd1
|
UTSW |
8 |
22,733,180 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4454:Thsd1
|
UTSW |
8 |
22,733,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Thsd1
|
UTSW |
8 |
22,749,314 (GRCm39) |
nonsense |
probably null |
|
|
R4997:Thsd1
|
UTSW |
8 |
22,733,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6440:Thsd1
|
UTSW |
8 |
22,748,569 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6457:Thsd1
|
UTSW |
8 |
22,733,363 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6488:Thsd1
|
UTSW |
8 |
22,733,733 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6519:Thsd1
|
UTSW |
8 |
22,749,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Thsd1
|
UTSW |
8 |
22,733,597 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7448:Thsd1
|
UTSW |
8 |
22,733,349 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7698:Thsd1
|
UTSW |
8 |
22,749,003 (GRCm39) |
nonsense |
probably null |
|
|
R7733:Thsd1
|
UTSW |
8 |
22,748,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Thsd1
|
UTSW |
8 |
22,733,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7894:Thsd1
|
UTSW |
8 |
22,749,585 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8181:Thsd1
|
UTSW |
8 |
22,733,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8192:Thsd1
|
UTSW |
8 |
22,733,918 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8426:Thsd1
|
UTSW |
8 |
22,733,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8775:Thsd1
|
UTSW |
8 |
22,749,643 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8775-TAIL:Thsd1
|
UTSW |
8 |
22,749,643 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9339:Thsd1
|
UTSW |
8 |
22,733,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Thsd1
|
UTSW |
8 |
22,733,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9550:Thsd1
|
UTSW |
8 |
22,733,026 (GRCm39) |
start gained |
probably benign |
|
|
X0023:Thsd1
|
UTSW |
8 |
22,749,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Thsd1
|
UTSW |
8 |
22,742,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTTCAGCTCTTAGCATGAATCC -3'
(R):5'- TACACTTTGGTGGTCTCGGTCAGC -3'
Sequencing Primer
(F):5'- CAGCTCTTAGCATGAATCCAAGTG -3'
(R):5'- GGTCTCGGTCAGCCCTTTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation