Incidental Mutation 'R4049:Thsd1'
| ID |
314041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thsd1
|
| Ensembl Gene |
ENSMUSG00000031480 |
| Gene Name |
thrombospondin, type I, domain 1 |
| Synonyms |
4833423O18Rik, Tmtsp |
| MMRRC Submission |
041616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4049 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
22717329-22751350 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22733180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 76
(Y76N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125118
(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: Y76N
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: Y76N
| 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: Y76N
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480
AA Change: Y76N
| 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: Y15N
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.2819 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,832,404 (GRCm39) |
E1190V |
probably damaging |
Het |
| Arhgef10 |
A |
G |
8: 15,029,998 (GRCm39) |
T928A |
probably benign |
Het |
| Arhgef10l |
T |
A |
4: 140,242,762 (GRCm39) |
I836F |
probably benign |
Het |
| Blm |
T |
A |
7: 80,152,610 (GRCm39) |
T446S |
probably benign |
Het |
| Ccdc63 |
T |
A |
5: 122,260,813 (GRCm39) |
Q237L |
probably damaging |
Het |
| Ccn5 |
A |
G |
2: 163,670,904 (GRCm39) |
D137G |
probably damaging |
Het |
| Cep57l1 |
G |
T |
10: 41,605,356 (GRCm39) |
R130S |
probably damaging |
Het |
| Clstn2 |
T |
G |
9: 97,339,613 (GRCm39) |
E786A |
possibly damaging |
Het |
| Col16a1 |
C |
T |
4: 129,962,545 (GRCm39) |
P540L |
probably damaging |
Het |
| Csf2 |
A |
G |
11: 54,140,159 (GRCm39) |
F61L |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,654,750 (GRCm39) |
R1094C |
unknown |
Het |
| Cyp3a41a |
A |
G |
5: 145,650,350 (GRCm39) |
C98R |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,984,508 (GRCm39) |
C404* |
probably null |
Het |
| Egfem1 |
A |
C |
3: 29,740,880 (GRCm39) |
H518P |
probably benign |
Het |
| Elf3 |
T |
C |
1: 135,182,015 (GRCm39) |
S369G |
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,788,577 (GRCm39) |
V503M |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,444,240 (GRCm39) |
D105G |
probably damaging |
Het |
| Eral1 |
A |
G |
11: 77,966,428 (GRCm39) |
L250P |
probably damaging |
Het |
| Gdf15 |
A |
T |
8: 71,082,605 (GRCm39) |
M167K |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,284 (GRCm39) |
K300E |
probably benign |
Het |
| Gm8074 |
G |
A |
9: 78,229,618 (GRCm39) |
|
noncoding transcript |
Het |
| Herc3 |
A |
G |
6: 58,853,822 (GRCm39) |
I623V |
probably damaging |
Het |
| Mad1l1 |
A |
G |
5: 140,118,571 (GRCm39) |
S457P |
probably damaging |
Het |
| Map1lc3a |
G |
T |
2: 155,119,462 (GRCm39) |
V91F |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,913,394 (GRCm39) |
V617A |
probably benign |
Het |
| Mov10l1 |
T |
A |
15: 88,879,235 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Ncor1 |
G |
T |
11: 62,220,494 (GRCm39) |
|
probably null |
Het |
| Nfe2 |
C |
T |
15: 103,159,364 (GRCm39) |
E36K |
possibly damaging |
Het |
| Oprm1 |
G |
A |
10: 6,779,087 (GRCm39) |
V95I |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,498,006 (GRCm39) |
I75V |
probably benign |
Het |
| Or4c107 |
A |
G |
2: 88,789,617 (GRCm39) |
K269R |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,229,575 (GRCm39) |
F241L |
probably benign |
Het |
| Or5d46 |
T |
C |
2: 88,174,144 (GRCm39) |
|
probably null |
Het |
| Pcdha9 |
T |
A |
18: 37,130,995 (GRCm39) |
H21Q |
probably benign |
Het |
| Pcolce2 |
A |
T |
9: 95,520,808 (GRCm39) |
I62F |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,407,053 (GRCm39) |
C435S |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,361,953 (GRCm39) |
C542Y |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,529,597 (GRCm39) |
S75P |
probably damaging |
Het |
| Pphln1 |
C |
A |
15: 93,362,987 (GRCm39) |
A202E |
probably damaging |
Het |
| Ppp1r1a |
A |
G |
15: 103,440,881 (GRCm39) |
L92P |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,223,414 (GRCm39) |
T43A |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,592,298 (GRCm39) |
N199S |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,454,757 (GRCm39) |
L199P |
probably damaging |
Het |
| Rnf213 |
A |
C |
11: 119,373,274 (GRCm39) |
M4939L |
possibly damaging |
Het |
| Slc23a2 |
C |
T |
2: 131,902,603 (GRCm39) |
R533Q |
probably benign |
Het |
| Slc7a7 |
T |
C |
14: 54,610,548 (GRCm39) |
|
probably null |
Het |
| Snrpd2 |
T |
A |
7: 18,885,232 (GRCm39) |
V31E |
probably damaging |
Het |
| Spire1 |
G |
T |
18: 67,662,101 (GRCm39) |
|
probably null |
Het |
| Srsf4 |
T |
C |
4: 131,627,854 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,737,630 (GRCm39) |
S1274P |
probably damaging |
Het |
| Tcof1 |
C |
A |
18: 60,965,975 (GRCm39) |
A376S |
possibly damaging |
Het |
| Timm44 |
A |
G |
8: 4,310,561 (GRCm39) |
V397A |
probably benign |
Het |
| Tmc6 |
G |
A |
11: 117,669,087 (GRCm39) |
T89I |
possibly damaging |
Het |
| Trbv31 |
C |
A |
6: 41,534,639 (GRCm39) |
C107F |
probably damaging |
Het |
| Trim37 |
T |
A |
11: 87,031,429 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
T |
C |
12: 86,059,573 (GRCm39) |
V1226A |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,550,931 (GRCm39) |
V865A |
probably benign |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,966 (GRCm39) |
M550K |
probably damaging |
Het |
| Vps54 |
C |
A |
11: 21,250,183 (GRCm39) |
T373N |
probably benign |
Het |
| Wdr64 |
T |
G |
1: 175,633,422 (GRCm39) |
I891S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,463,919 (GRCm39) |
S1384L |
probably damaging |
Het |
| Zfp703 |
A |
G |
8: 27,469,113 (GRCm39) |
E259G |
possibly damaging |
Het |
| Zfp933 |
T |
C |
4: 147,910,969 (GRCm39) |
H209R |
probably damaging |
Het |
| Zfp980 |
A |
G |
4: 145,429,170 (GRCm39) |
H633R |
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 |
|
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 |
|
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'- ATTTCCTTTCAGTCCTCGGAGAAG -3'
(R):5'- ACACCCACTTGAAAGGTGCC -3'
Sequencing Primer
(F):5'- GGAGAAGCCGAATACCTCCTC -3'
(R):5'- ACTTGAAAGGTGCCTTCTGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation