Incidental Mutation 'R6519:Thsd1'
| ID |
521005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thsd1
|
| Ensembl Gene |
ENSMUSG00000031480 |
| Gene Name |
thrombospondin, type I, domain 1 |
| Synonyms |
4833423O18Rik, Tmtsp |
| MMRRC Submission |
044646-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6519 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
22717329-22751350 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22749081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 590
(R590G)
|
| 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: R651G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: R651G
| 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: R598G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480
AA Change: R598G
| 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: R590G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.7%
|
| Validation Efficiency |
97% (58/60) |
| 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 |
|---|
| A4gnt |
T |
C |
9: 99,495,723 (GRCm39) |
I53T |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,715,462 (GRCm39) |
D909N |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,792,079 (GRCm39) |
Y1107H |
possibly damaging |
Het |
| Aldob |
A |
T |
4: 49,543,835 (GRCm39) |
V49E |
probably damaging |
Het |
| Apol6 |
T |
A |
15: 76,935,476 (GRCm39) |
Y248* |
probably null |
Het |
| Apol7b |
T |
A |
15: 77,307,548 (GRCm39) |
T316S |
probably benign |
Het |
| Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
| Brca2 |
A |
C |
5: 150,464,444 (GRCm39) |
T1403P |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,526,788 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cct7 |
C |
A |
6: 85,439,132 (GRCm39) |
Q149K |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,669,461 (GRCm39) |
H179L |
probably benign |
Het |
| Cyp2b19 |
A |
G |
7: 26,458,536 (GRCm39) |
T84A |
probably benign |
Het |
| Cyp3a41a |
A |
G |
5: 145,652,308 (GRCm39) |
C64R |
probably damaging |
Het |
| Dclre1c |
T |
C |
2: 3,430,366 (GRCm39) |
Y75H |
probably damaging |
Het |
| Dhx35 |
A |
T |
2: 158,673,630 (GRCm39) |
I354F |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,203,771 (GRCm39) |
N629S |
probably damaging |
Het |
| Dnase1 |
A |
T |
16: 3,856,453 (GRCm39) |
S132C |
probably damaging |
Het |
| Dnttip2 |
T |
C |
3: 122,069,120 (GRCm39) |
S112P |
probably benign |
Het |
| Eif4g3 |
C |
A |
4: 137,721,319 (GRCm39) |
P48T |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,057,020 (GRCm39) |
T4239S |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,196,647 (GRCm39) |
V1419A |
possibly damaging |
Het |
| Ghitm |
A |
C |
14: 36,847,204 (GRCm39) |
M290R |
probably damaging |
Het |
| Glb1l |
T |
C |
1: 75,177,700 (GRCm39) |
D406G |
probably benign |
Het |
| Glipr1l1 |
C |
A |
10: 111,898,153 (GRCm39) |
A86D |
probably benign |
Het |
| Golm2 |
T |
C |
2: 121,737,218 (GRCm39) |
V141A |
probably benign |
Het |
| Grm7 |
C |
T |
6: 111,184,713 (GRCm39) |
A348V |
probably benign |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,865,252 (GRCm39) |
N155K |
probably damaging |
Het |
| Hus1b |
A |
G |
13: 31,130,930 (GRCm39) |
I243T |
probably benign |
Het |
| Kcnab2 |
T |
C |
4: 152,496,450 (GRCm39) |
T65A |
probably damaging |
Het |
| Lasp1 |
T |
A |
11: 97,706,383 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
G |
A |
16: 32,815,367 (GRCm39) |
|
probably benign |
Het |
| Ltb4r2 |
C |
T |
14: 56,000,438 (GRCm39) |
T353M |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,366,118 (GRCm39) |
M1316T |
probably benign |
Het |
| Msr1 |
G |
A |
8: 40,077,262 (GRCm39) |
T116I |
probably benign |
Het |
| Nlrp5 |
A |
G |
7: 23,117,343 (GRCm39) |
I356V |
probably benign |
Het |
| Npy |
C |
T |
6: 49,800,669 (GRCm39) |
S31F |
possibly damaging |
Het |
| Nsd3 |
C |
T |
8: 26,152,955 (GRCm39) |
P432S |
probably damaging |
Het |
| Nup160 |
A |
C |
2: 90,548,561 (GRCm39) |
R1037S |
probably damaging |
Het |
| Or12j4 |
T |
A |
7: 140,046,458 (GRCm39) |
S115T |
probably benign |
Het |
| Or4b1d |
A |
T |
2: 89,969,156 (GRCm39) |
I109N |
possibly damaging |
Het |
| Or8s5 |
C |
T |
15: 98,237,929 (GRCm39) |
G314R |
probably benign |
Het |
| Pcx |
A |
G |
19: 4,652,239 (GRCm39) |
E108G |
possibly damaging |
Het |
| Pecam1 |
A |
T |
11: 106,590,468 (GRCm39) |
M102K |
probably benign |
Het |
| Pgd |
G |
T |
4: 149,235,343 (GRCm39) |
Y433* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,355,404 (GRCm39) |
E744G |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,535,503 (GRCm39) |
I118T |
probably benign |
Het |
| Rdh11 |
T |
A |
12: 79,229,589 (GRCm39) |
H228L |
probably damaging |
Het |
| Rnf44 |
C |
T |
13: 54,829,599 (GRCm39) |
R340Q |
probably damaging |
Het |
| Rtraf |
A |
G |
14: 19,869,998 (GRCm39) |
V88A |
possibly damaging |
Het |
| Sigmar1 |
T |
C |
4: 41,739,380 (GRCm39) |
T185A |
possibly damaging |
Het |
| Trappc14 |
A |
G |
5: 138,260,110 (GRCm39) |
S344P |
probably damaging |
Het |
| Trbv19 |
T |
C |
6: 41,155,573 (GRCm39) |
|
probably benign |
Het |
| Txnrd3 |
T |
C |
6: 89,631,405 (GRCm39) |
|
probably null |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 53,000,275 (GRCm39) |
N192D |
possibly damaging |
Het |
| Zfp955b |
T |
A |
17: 33,521,051 (GRCm39) |
S173R |
possibly damaging |
Het |
| Zranb1 |
T |
A |
7: 132,551,857 (GRCm39) |
C195* |
probably null |
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 |
|
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 |
|
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'- AATCTCCATTTCTGGACCAGC -3'
(R):5'- TTTGGAGAGTGGACCCAAAG -3'
Sequencing Primer
(F):5'- ATTTCTGGACCAGCCTGGG -3'
(R):5'- TGGACCCAAAGGACTGCTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation