Incidental Mutation 'R3831:Thsd1'
ID |
273999 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thsd1
|
Ensembl Gene |
ENSMUSG00000031480 |
Gene Name |
thrombospondin, type I, domain 1 |
Synonyms |
4833423O18Rik, Tmtsp |
MMRRC Submission |
040777-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3831 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
22717329-22751350 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 22733132 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 60
(S60A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067701
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069828]
[ENSMUST00000160585]
[ENSMUST00000162447]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069828
AA Change: S60A
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000067701 Gene: ENSMUSG00000031480 AA Change: S60A
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 |
possibly damaging
Transcript: ENSMUST00000160585
AA Change: S60A
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125118 Gene: ENSMUSG00000031480 AA Change: S60A
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 |
probably benign
Transcript: ENSMUST00000162447
|
Meta Mutation Damage Score |
0.1166 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.2%
|
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 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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,880,992 (GRCm39) |
T527A |
unknown |
Het |
Bcat1 |
T |
A |
6: 144,955,834 (GRCm39) |
D349V |
probably damaging |
Het |
Cacna1c |
A |
G |
6: 118,581,424 (GRCm39) |
S1727P |
probably benign |
Het |
Cacnb2 |
A |
T |
2: 14,986,236 (GRCm39) |
I338F |
probably damaging |
Het |
Cemip2 |
T |
G |
19: 21,825,315 (GRCm39) |
S1204R |
probably damaging |
Het |
Cibar2 |
T |
A |
8: 120,901,633 (GRCm39) |
Y24F |
probably damaging |
Het |
Cyb5d2 |
G |
T |
11: 72,686,349 (GRCm39) |
S80R |
possibly damaging |
Het |
Cyfip2 |
T |
C |
11: 46,152,333 (GRCm39) |
D485G |
probably benign |
Het |
Cyp27b1 |
G |
T |
10: 126,886,929 (GRCm39) |
V382L |
probably damaging |
Het |
Dpp9 |
A |
T |
17: 56,506,113 (GRCm39) |
F429I |
possibly damaging |
Het |
Frmd4b |
T |
A |
6: 97,389,486 (GRCm39) |
K73* |
probably null |
Het |
Hao1 |
A |
T |
2: 134,364,925 (GRCm39) |
V234D |
probably damaging |
Het |
Hkdc1 |
T |
C |
10: 62,235,991 (GRCm39) |
Y517C |
probably benign |
Het |
Iglv2 |
A |
T |
16: 19,079,593 (GRCm39) |
M1K |
probably null |
Het |
Inpp5j |
T |
C |
11: 3,450,229 (GRCm39) |
D228G |
probably damaging |
Het |
Itih5 |
A |
G |
2: 10,256,081 (GRCm39) |
D849G |
possibly damaging |
Het |
Itpkb |
T |
C |
1: 180,161,260 (GRCm39) |
V462A |
probably benign |
Het |
Kif26b |
GAAA |
GAA |
1: 178,744,181 (GRCm39) |
|
probably null |
Het |
Kremen1 |
G |
GGGC |
11: 5,151,794 (GRCm39) |
|
probably benign |
Het |
Lzic |
G |
C |
4: 149,573,185 (GRCm39) |
E112D |
probably null |
Het |
Mageh1 |
A |
T |
X: 151,820,004 (GRCm39) |
W111R |
probably damaging |
Het |
Mapk7 |
A |
G |
11: 61,380,680 (GRCm39) |
S641P |
possibly damaging |
Het |
Mapt |
A |
T |
11: 104,177,961 (GRCm39) |
Q38L |
possibly damaging |
Het |
Med12 |
C |
A |
X: 100,339,498 (GRCm39) |
P2037Q |
possibly damaging |
Het |
Med22 |
A |
G |
2: 26,800,379 (GRCm39) |
S17P |
probably damaging |
Het |
Melk |
C |
A |
4: 44,345,021 (GRCm39) |
Q384K |
probably benign |
Het |
Morc2b |
C |
T |
17: 33,356,233 (GRCm39) |
S513N |
probably benign |
Het |
Nap1l3 |
A |
G |
X: 121,305,995 (GRCm39) |
V241A |
possibly damaging |
Het |
Or2t45 |
T |
A |
11: 58,669,571 (GRCm39) |
|
probably null |
Het |
Or56a4 |
A |
G |
7: 104,806,589 (GRCm39) |
F100S |
probably damaging |
Het |
Or9e1 |
T |
G |
11: 58,732,686 (GRCm39) |
F249V |
probably damaging |
Het |
Pdgfd |
T |
C |
9: 6,359,762 (GRCm39) |
S278P |
probably damaging |
Het |
Pgc |
C |
A |
17: 48,040,236 (GRCm39) |
F93L |
probably null |
Het |
Phf14 |
A |
G |
6: 11,933,873 (GRCm39) |
|
probably null |
Het |
Pja2 |
T |
C |
17: 64,616,397 (GRCm39) |
D166G |
probably benign |
Het |
Rgs5 |
A |
G |
1: 169,504,470 (GRCm39) |
Y40C |
probably benign |
Het |
Rsad1 |
A |
G |
11: 94,434,130 (GRCm39) |
V366A |
probably benign |
Het |
S100a10 |
T |
C |
3: 93,471,680 (GRCm39) |
V88A |
probably damaging |
Het |
Scarf1 |
T |
C |
11: 75,406,078 (GRCm39) |
C121R |
probably damaging |
Het |
Scn7a |
A |
G |
2: 66,528,028 (GRCm39) |
S821P |
probably damaging |
Het |
Sco1 |
T |
C |
11: 66,944,605 (GRCm39) |
V76A |
probably damaging |
Het |
Selp |
T |
A |
1: 163,959,849 (GRCm39) |
C368* |
probably null |
Het |
Sema3e |
T |
A |
5: 14,276,496 (GRCm39) |
C294S |
probably damaging |
Het |
Slit3 |
A |
T |
11: 35,579,509 (GRCm39) |
S1229C |
probably null |
Het |
Smarca5 |
A |
T |
8: 81,455,123 (GRCm39) |
N199K |
probably damaging |
Het |
Sorbs2 |
A |
T |
8: 46,248,132 (GRCm39) |
D442V |
probably damaging |
Het |
Specc1 |
T |
A |
11: 62,008,793 (GRCm39) |
I183N |
probably damaging |
Het |
Tcerg1 |
G |
T |
18: 42,701,554 (GRCm39) |
R872L |
probably damaging |
Het |
Tekt1 |
T |
C |
11: 72,245,645 (GRCm39) |
N170S |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,219,209 (GRCm39) |
|
probably null |
Het |
Usp28 |
A |
G |
9: 48,946,938 (GRCm39) |
T505A |
probably benign |
Het |
Zcchc17 |
T |
C |
4: 130,232,317 (GRCm39) |
D62G |
probably benign |
Het |
Zfp445 |
T |
G |
9: 122,681,541 (GRCm39) |
E800A |
probably damaging |
Het |
Zranb1 |
C |
T |
7: 132,584,505 (GRCm39) |
A591V |
probably 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 |
R0854:Thsd1
|
UTSW |
8 |
22,748,587 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- AACATCCTTGGCTTGGTTGC -3'
(R):5'- GGAACTTGCGTGCCATTGTC -3'
Sequencing Primer
(F):5'- GGCTTGGTTGCACATTCTC -3'
(R):5'- CTGTCACTTCCGGGATCATTACAAAC -3'
|
Posted On |
2015-04-02 |