Incidental Mutation 'R6885:Thbs4'
| ID |
536809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thbs4
|
| Ensembl Gene |
ENSMUSG00000021702 |
| Gene Name |
thrombospondin 4 |
| Synonyms |
TSP4, TSP-4 |
| MMRRC Submission |
045031-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6885 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92888098-92931326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92899377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 539
(D539E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022213]
|
| AlphaFold |
Q9Z1T2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022213
AA Change: D539E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: D539E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
18 |
N/A |
INTRINSIC |
|
TSPN
|
26 |
194 |
1.66e-51 |
SMART |
|
Pfam:COMP
|
220 |
264 |
1.2e-24 |
PFAM |
|
low complexity region
|
280 |
290 |
N/A |
INTRINSIC |
|
EGF
|
291 |
327 |
1.04e-3 |
SMART |
|
EGF_CA
|
328 |
380 |
7.29e-8 |
SMART |
|
EGF_CA
|
381 |
421 |
1.42e-10 |
SMART |
|
EGF
|
425 |
464 |
4.32e-1 |
SMART |
|
Pfam:TSP_3
|
498 |
533 |
7.1e-15 |
PFAM |
|
Pfam:TSP_3
|
557 |
592 |
7.8e-17 |
PFAM |
|
Pfam:TSP_3
|
616 |
653 |
1.4e-11 |
PFAM |
|
Pfam:TSP_3
|
654 |
693 |
1.3e-10 |
PFAM |
|
Pfam:TSP_3
|
694 |
729 |
1e-14 |
PFAM |
|
Pfam:TSP_C
|
747 |
944 |
3.8e-102 |
PFAM |
|
| Meta Mutation Damage Score |
0.2180 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased sensitivity to cardiac pressure overload, including increased hypertrophy, decreased ejection fraction, decreased microvessle number, increased extracellular matrix deposition and increased fibrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,119,332 (GRCm39) |
I1025M |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,179,465 (GRCm39) |
T164S |
probably benign |
Het |
| Ankar |
C |
T |
1: 72,682,195 (GRCm39) |
A1239T |
unknown |
Het |
| Aox4 |
A |
T |
1: 58,303,537 (GRCm39) |
S1192C |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,159,982 (GRCm39) |
D68G |
probably damaging |
Het |
| Btnl4 |
T |
C |
17: 34,691,919 (GRCm39) |
I228V |
probably benign |
Het |
| Catsper4 |
T |
C |
4: 133,942,460 (GRCm39) |
T231A |
probably benign |
Het |
| Ccl12 |
A |
T |
11: 81,993,523 (GRCm39) |
T54S |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,140,980 (GRCm39) |
|
probably null |
Het |
| Cog5 |
T |
A |
12: 31,944,198 (GRCm39) |
D694E |
probably damaging |
Het |
| Crat |
T |
A |
2: 30,305,208 (GRCm39) |
|
probably benign |
Het |
| Crot |
T |
C |
5: 9,023,635 (GRCm39) |
T418A |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,323,089 (GRCm39) |
P2826L |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,981,598 (GRCm39) |
F1698L |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,124,742 (GRCm39) |
D1019E |
possibly damaging |
Het |
| Eps15 |
A |
G |
4: 109,166,361 (GRCm39) |
N85D |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,706,889 (GRCm39) |
S457P |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 52,965,088 (GRCm39) |
T426I |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,489 (GRCm39) |
S747P |
possibly damaging |
Het |
| Gas7 |
A |
G |
11: 67,574,213 (GRCm39) |
D396G |
probably damaging |
Het |
| Gm5114 |
G |
T |
7: 39,057,580 (GRCm39) |
R680S |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,395,994 (GRCm39) |
L94M |
possibly damaging |
Het |
| Gse1 |
C |
A |
8: 120,956,221 (GRCm39) |
|
probably benign |
Het |
| Hmgb1 |
T |
C |
5: 148,987,471 (GRCm39) |
E26G |
probably benign |
Het |
| Incenp |
C |
T |
19: 9,852,496 (GRCm39) |
R714Q |
unknown |
Het |
| Krt73 |
T |
C |
15: 101,704,833 (GRCm39) |
E351G |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,938,121 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
T |
G |
17: 71,522,145 (GRCm39) |
S60A |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,649,927 (GRCm39) |
|
probably null |
Het |
| Mafb |
A |
G |
2: 160,207,939 (GRCm39) |
S220P |
possibly damaging |
Het |
| Maml3 |
TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
3: 51,605,000 (GRCm39) |
|
|
Het |
| Mcmbp |
T |
C |
7: 128,326,833 (GRCm39) |
|
probably null |
Het |
| Or1e30 |
A |
T |
11: 73,677,926 (GRCm39) |
H54L |
possibly damaging |
Het |
| Or4s2 |
A |
G |
2: 88,473,941 (GRCm39) |
T277A |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,442,096 (GRCm39) |
S29P |
probably benign |
Het |
| Parm1 |
A |
G |
5: 91,742,069 (GRCm39) |
T146A |
possibly damaging |
Het |
| Pgm2 |
T |
A |
5: 64,261,221 (GRCm39) |
F238L |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,392,792 (GRCm39) |
F126Y |
probably damaging |
Het |
| Pitx2 |
T |
C |
3: 129,012,257 (GRCm39) |
M222T |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,355,693 (GRCm39) |
N37S |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,520,103 (GRCm39) |
C116R |
probably damaging |
Het |
| Psme4 |
A |
T |
11: 30,784,307 (GRCm39) |
K961* |
probably null |
Het |
| Rbpj |
T |
C |
5: 53,810,493 (GRCm39) |
W392R |
probably damaging |
Het |
| Reg3a |
T |
A |
6: 78,358,038 (GRCm39) |
|
probably null |
Het |
| Rfc3 |
C |
T |
5: 151,571,749 (GRCm39) |
S85N |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,696 (GRCm39) |
T80A |
probably benign |
Het |
| Sash1 |
T |
C |
10: 8,659,985 (GRCm39) |
T195A |
probably damaging |
Het |
| Ska1 |
A |
G |
18: 74,339,910 (GRCm39) |
V12A |
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,745,294 (GRCm39) |
V80A |
probably benign |
Het |
| Slc26a5 |
A |
T |
5: 22,039,342 (GRCm39) |
V217D |
probably damaging |
Het |
| Slc46a1 |
A |
G |
11: 78,357,805 (GRCm39) |
D286G |
probably benign |
Het |
| Spata2l |
A |
T |
8: 123,962,297 (GRCm39) |
L88Q |
probably damaging |
Het |
| Sptbn1 |
T |
G |
11: 30,088,634 (GRCm39) |
Q876P |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,914,407 (GRCm39) |
I2377F |
possibly damaging |
Het |
| Tmem154 |
T |
A |
3: 84,599,813 (GRCm39) |
C162S |
possibly damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,682,502 (GRCm39) |
E502G |
probably benign |
Het |
| Traf7 |
G |
A |
17: 24,731,266 (GRCm39) |
R257C |
probably benign |
Het |
| Tsc22d2 |
T |
C |
3: 58,323,629 (GRCm39) |
Y174H |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,594,230 (GRCm39) |
E802G |
probably damaging |
Het |
| Vmn1r5 |
T |
C |
6: 56,963,042 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,600,457 (GRCm39) |
S494T |
possibly damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,568,517 (GRCm39) |
F856L |
probably damaging |
Het |
|
| Other mutations in Thbs4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01680:Thbs4
|
APN |
13 |
92,913,488 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02318:Thbs4
|
APN |
13 |
92,900,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Thbs4
|
APN |
13 |
92,927,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03205:Thbs4
|
APN |
13 |
92,899,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03382:Thbs4
|
APN |
13 |
92,906,056 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0087:Thbs4
|
UTSW |
13 |
92,891,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0128:Thbs4
|
UTSW |
13 |
92,890,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0130:Thbs4
|
UTSW |
13 |
92,890,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0276:Thbs4
|
UTSW |
13 |
92,912,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0423:Thbs4
|
UTSW |
13 |
92,893,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0504:Thbs4
|
UTSW |
13 |
92,903,692 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0708:Thbs4
|
UTSW |
13 |
92,909,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Thbs4
|
UTSW |
13 |
92,894,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1078:Thbs4
|
UTSW |
13 |
92,899,434 (GRCm39) |
splice site |
probably benign |
|
|
R1139:Thbs4
|
UTSW |
13 |
92,911,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1253:Thbs4
|
UTSW |
13 |
92,913,413 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1342:Thbs4
|
UTSW |
13 |
92,888,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Thbs4
|
UTSW |
13 |
92,898,041 (GRCm39) |
missense |
probably benign |
|
|
R1834:Thbs4
|
UTSW |
13 |
92,897,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1950:Thbs4
|
UTSW |
13 |
92,906,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2056:Thbs4
|
UTSW |
13 |
92,927,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2184:Thbs4
|
UTSW |
13 |
92,911,302 (GRCm39) |
missense |
probably benign |
|
|
R2198:Thbs4
|
UTSW |
13 |
92,899,779 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2859:Thbs4
|
UTSW |
13 |
92,927,216 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3605:Thbs4
|
UTSW |
13 |
92,894,467 (GRCm39) |
nonsense |
probably null |
|
|
R3783:Thbs4
|
UTSW |
13 |
92,909,672 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3784:Thbs4
|
UTSW |
13 |
92,909,672 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3786:Thbs4
|
UTSW |
13 |
92,909,672 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3787:Thbs4
|
UTSW |
13 |
92,909,672 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4061:Thbs4
|
UTSW |
13 |
92,912,605 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4790:Thbs4
|
UTSW |
13 |
92,899,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4968:Thbs4
|
UTSW |
13 |
92,894,576 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4983:Thbs4
|
UTSW |
13 |
92,927,207 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5185:Thbs4
|
UTSW |
13 |
92,911,675 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5352:Thbs4
|
UTSW |
13 |
92,900,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5361:Thbs4
|
UTSW |
13 |
92,913,501 (GRCm39) |
missense |
probably benign |
|
|
R5589:Thbs4
|
UTSW |
13 |
92,912,582 (GRCm39) |
splice site |
probably null |
|
|
R5700:Thbs4
|
UTSW |
13 |
92,913,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6061:Thbs4
|
UTSW |
13 |
92,888,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6101:Thbs4
|
UTSW |
13 |
92,911,993 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6105:Thbs4
|
UTSW |
13 |
92,911,993 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6227:Thbs4
|
UTSW |
13 |
92,911,190 (GRCm39) |
missense |
probably null |
1.00 |
|
R6249:Thbs4
|
UTSW |
13 |
92,911,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6651:Thbs4
|
UTSW |
13 |
92,893,044 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6735:Thbs4
|
UTSW |
13 |
92,891,674 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6913:Thbs4
|
UTSW |
13 |
92,894,444 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7409:Thbs4
|
UTSW |
13 |
92,909,767 (GRCm39) |
nonsense |
probably null |
|
|
R7480:Thbs4
|
UTSW |
13 |
92,903,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7682:Thbs4
|
UTSW |
13 |
92,912,070 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8022:Thbs4
|
UTSW |
13 |
92,888,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8213:Thbs4
|
UTSW |
13 |
92,897,094 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8231:Thbs4
|
UTSW |
13 |
92,911,352 (GRCm39) |
missense |
probably benign |
|
|
R8353:Thbs4
|
UTSW |
13 |
92,927,325 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8445:Thbs4
|
UTSW |
13 |
92,927,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8453:Thbs4
|
UTSW |
13 |
92,927,325 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8520:Thbs4
|
UTSW |
13 |
92,890,792 (GRCm39) |
nonsense |
probably null |
|
|
R8560:Thbs4
|
UTSW |
13 |
92,891,608 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8774:Thbs4
|
UTSW |
13 |
92,898,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Thbs4
|
UTSW |
13 |
92,898,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9061:Thbs4
|
UTSW |
13 |
92,911,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9223:Thbs4
|
UTSW |
13 |
92,897,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Thbs4
|
UTSW |
13 |
92,898,022 (GRCm39) |
missense |
probably benign |
|
|
R9691:Thbs4
|
UTSW |
13 |
92,890,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9778:Thbs4
|
UTSW |
13 |
92,913,495 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1177:Thbs4
|
UTSW |
13 |
92,890,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTAGGGTTACTGGGCCAC -3'
(R):5'- GTCCTGTCCCGTCCTAAACATG -3'
Sequencing Primer
(F):5'- TGGGCCACCAGACATAGATCAG -3'
(R):5'- TAAACATGCCTGTCACGAGTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation