Incidental Mutation 'R2209:Thsd1'
ID |
239255 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thsd1
|
Ensembl Gene |
ENSMUSG00000031480 |
Gene Name |
thrombospondin, type I, domain 1 |
Synonyms |
4833423O18Rik, Tmtsp |
MMRRC Submission |
040211-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2209 (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 A
at 22748887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 525
(I525N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148214
(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: I586N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067701 Gene: ENSMUSG00000031480 AA Change: I586N
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: I533N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125118 Gene: ENSMUSG00000031480 AA Change: I533N
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 damaging
Transcript: ENSMUST00000162447
AA Change: I525N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
A |
G |
8: 120,884,227 (GRCm39) |
E330G |
possibly damaging |
Het |
Apob |
A |
C |
12: 8,057,752 (GRCm39) |
D2078A |
probably benign |
Het |
Arhgap21 |
T |
A |
2: 20,854,331 (GRCm39) |
Q1681L |
probably damaging |
Het |
Arsb |
A |
G |
13: 93,998,609 (GRCm39) |
T306A |
probably benign |
Het |
Brpf3 |
G |
A |
17: 29,047,394 (GRCm39) |
D1053N |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,384,795 (GRCm39) |
I2495N |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,599,634 (GRCm39) |
K840E |
possibly damaging |
Het |
Cry1 |
A |
G |
10: 84,982,619 (GRCm39) |
L269P |
probably damaging |
Het |
Cyp21a1 |
C |
A |
17: 35,021,701 (GRCm39) |
E289* |
probably null |
Het |
Dcp2 |
A |
T |
18: 44,538,581 (GRCm39) |
K215* |
probably null |
Het |
Dnaaf11 |
A |
G |
15: 66,321,400 (GRCm39) |
I247T |
probably benign |
Het |
Ecm2 |
A |
G |
13: 49,683,632 (GRCm39) |
N537D |
probably damaging |
Het |
Emid1 |
G |
A |
11: 5,085,407 (GRCm39) |
T113M |
probably benign |
Het |
Exoc8 |
C |
T |
8: 125,622,918 (GRCm39) |
W483* |
probably null |
Het |
Fes |
A |
T |
7: 80,030,031 (GRCm39) |
N582K |
probably damaging |
Het |
Flnb |
G |
T |
14: 7,905,507 (GRCm38) |
E1086* |
probably null |
Het |
Flnc |
T |
A |
6: 29,455,844 (GRCm39) |
D2058E |
possibly damaging |
Het |
Gatb |
G |
A |
3: 85,561,112 (GRCm39) |
D543N |
probably benign |
Het |
Gm14412 |
A |
G |
2: 177,009,229 (GRCm39) |
V9A |
probably damaging |
Het |
Gm4884 |
T |
C |
7: 40,692,745 (GRCm39) |
V238A |
possibly damaging |
Het |
Igfbp5 |
A |
G |
1: 72,913,096 (GRCm39) |
V68A |
possibly damaging |
Het |
Igflr1 |
T |
A |
7: 30,267,222 (GRCm39) |
I330N |
probably damaging |
Het |
Il1r2 |
A |
G |
1: 40,154,298 (GRCm39) |
T222A |
probably benign |
Het |
Krt87 |
T |
C |
15: 101,330,989 (GRCm39) |
E419G |
probably benign |
Het |
Lman2 |
A |
G |
13: 55,499,315 (GRCm39) |
S187P |
probably damaging |
Het |
Mrpl38 |
T |
C |
11: 116,029,288 (GRCm39) |
E76G |
possibly damaging |
Het |
Mtx3 |
A |
G |
13: 92,984,112 (GRCm39) |
I130V |
probably benign |
Het |
Naf1 |
T |
G |
8: 67,313,188 (GRCm39) |
|
probably benign |
Het |
Nkx2-1 |
T |
G |
12: 56,580,293 (GRCm39) |
M216L |
probably benign |
Het |
Notch1 |
C |
A |
2: 26,350,019 (GRCm39) |
V2374L |
probably benign |
Het |
Nrxn2 |
A |
G |
19: 6,543,037 (GRCm39) |
D1087G |
probably benign |
Het |
Nudt8 |
T |
C |
19: 4,051,902 (GRCm39) |
F171S |
probably damaging |
Het |
Or5an1 |
T |
G |
19: 12,261,224 (GRCm39) |
F271V |
probably benign |
Het |
Pds5a |
A |
T |
5: 65,785,357 (GRCm39) |
C916* |
probably null |
Het |
Phyhip |
A |
T |
14: 70,699,334 (GRCm39) |
N46Y |
probably damaging |
Het |
Pomt1 |
A |
G |
2: 32,140,874 (GRCm39) |
Y502C |
possibly damaging |
Het |
Prkcg |
A |
C |
7: 3,352,097 (GRCm39) |
|
probably benign |
Het |
Prl8a6 |
C |
T |
13: 27,619,369 (GRCm39) |
E118K |
probably benign |
Het |
Prpf39 |
T |
C |
12: 65,104,689 (GRCm39) |
|
probably null |
Het |
Ptprb |
A |
G |
10: 116,205,262 (GRCm39) |
H2159R |
probably damaging |
Het |
Ripor2 |
A |
T |
13: 24,885,595 (GRCm39) |
D571V |
probably damaging |
Het |
Rps19 |
C |
T |
7: 24,584,552 (GRCm39) |
L34F |
probably benign |
Het |
Rusc1 |
A |
G |
3: 88,996,128 (GRCm39) |
S145P |
probably damaging |
Het |
Scn4a |
T |
A |
11: 106,230,051 (GRCm39) |
T586S |
probably damaging |
Het |
Slc7a12 |
A |
G |
3: 14,546,124 (GRCm39) |
S90G |
possibly damaging |
Het |
Specc1l |
A |
G |
10: 75,082,410 (GRCm39) |
D619G |
probably damaging |
Het |
Src |
A |
G |
2: 157,304,710 (GRCm39) |
D143G |
probably benign |
Het |
Sst |
T |
C |
16: 23,708,558 (GRCm39) |
N91S |
probably benign |
Het |
Stxbp5l |
T |
A |
16: 37,036,398 (GRCm39) |
I406F |
probably damaging |
Het |
Ticam2 |
A |
T |
18: 46,693,467 (GRCm39) |
F207I |
probably damaging |
Het |
Tsc22d1 |
C |
A |
14: 76,656,180 (GRCm39) |
N31K |
probably damaging |
Het |
Tspan10 |
T |
C |
11: 120,336,989 (GRCm39) |
V253A |
probably benign |
Het |
Ttc33 |
A |
G |
15: 5,237,924 (GRCm39) |
K99R |
possibly damaging |
Het |
Vmn1r63 |
T |
A |
7: 5,806,212 (GRCm39) |
N140I |
probably damaging |
Het |
Yju2b |
C |
T |
8: 84,990,498 (GRCm39) |
V45I |
probably benign |
Het |
Zbtb25 |
A |
G |
12: 76,395,903 (GRCm39) |
*440Q |
probably null |
Het |
Zfhx4 |
T |
A |
3: 5,461,978 (GRCm39) |
C1218S |
probably damaging |
Het |
Zfp84 |
T |
A |
7: 29,476,607 (GRCm39) |
I433N |
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 |
|
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'- AGATCATCCCGCCCTTGTTTAG -3'
(R):5'- ACTAGCAGTCCTCCTGAAGAG -3'
Sequencing Primer
(F):5'- TAGCTACCGCCTTGCCCAG -3'
(R):5'- CTCCTGAAGAGGGAACTTCTG -3'
|
Posted On |
2014-10-15 |