Incidental Mutation 'R6031:Thbs3'
ID |
480383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Thbs3
|
Ensembl Gene |
ENSMUSG00000028047 |
Gene Name |
thrombospondin 3 |
Synonyms |
TSP3, Thbs-3 |
MMRRC Submission |
044203-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.558)
|
Stock # |
R6031 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
89122487-89134144 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89125401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 204
(C204S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029682]
[ENSMUST00000073572]
[ENSMUST00000118964]
[ENSMUST00000119084]
[ENSMUST00000152789]
[ENSMUST00000142051]
[ENSMUST00000174126]
|
AlphaFold |
Q05895 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029682
AA Change: C204S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029682 Gene: ENSMUSG00000028047 AA Change: C204S
Domain | Start | End | E-Value | Type |
TSPN
|
21 |
193 |
4.71e-56 |
SMART |
Pfam:COMP
|
226 |
270 |
2.5e-22 |
PFAM |
EGF
|
277 |
315 |
8.19e-2 |
SMART |
EGF_CA
|
316 |
369 |
6.91e-9 |
SMART |
EGF_CA
|
370 |
413 |
1.38e-8 |
SMART |
EGF
|
417 |
456 |
1.99e0 |
SMART |
Pfam:TSP_3
|
492 |
527 |
1e-12 |
PFAM |
Pfam:TSP_3
|
551 |
586 |
2.2e-16 |
PFAM |
Pfam:TSP_3
|
586 |
609 |
6.6e-7 |
PFAM |
Pfam:TSP_3
|
610 |
647 |
2.6e-14 |
PFAM |
Pfam:TSP_3
|
648 |
687 |
2.4e-10 |
PFAM |
Pfam:TSP_3
|
688 |
723 |
4.2e-15 |
PFAM |
Pfam:TSP_C
|
741 |
938 |
3.3e-99 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073572
|
SMART Domains |
Protein: ENSMUSP00000073261 Gene: ENSMUSG00000064068
Domain | Start | End | E-Value | Type |
low complexity region
|
94 |
109 |
N/A |
INTRINSIC |
Pfam:Tom37
|
151 |
219 |
4.2e-21 |
PFAM |
Pfam:Tom37_C
|
239 |
317 |
8.1e-24 |
PFAM |
Pfam:GST_C_3
|
267 |
383 |
1.7e-11 |
PFAM |
Pfam:GST_C_2
|
270 |
377 |
2.7e-8 |
PFAM |
Pfam:Tom37_C
|
300 |
369 |
1.1e-14 |
PFAM |
low complexity region
|
396 |
415 |
N/A |
INTRINSIC |
transmembrane domain
|
416 |
438 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118964
|
SMART Domains |
Protein: ENSMUSP00000114009 Gene: ENSMUSG00000064068
Domain | Start | End | E-Value | Type |
low complexity region
|
94 |
109 |
N/A |
INTRINSIC |
Pfam:Tom37
|
151 |
219 |
5.9e-21 |
PFAM |
Pfam:Tom37_C
|
216 |
287 |
6.3e-19 |
PFAM |
Pfam:GST_C_3
|
216 |
352 |
5.1e-11 |
PFAM |
Pfam:GST_C_2
|
238 |
344 |
1.9e-8 |
PFAM |
Pfam:Tom37_C
|
269 |
338 |
9.5e-15 |
PFAM |
low complexity region
|
365 |
384 |
N/A |
INTRINSIC |
transmembrane domain
|
385 |
407 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119084
AA Change: C204S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112912 Gene: ENSMUSG00000028047 AA Change: C204S
Domain | Start | End | E-Value | Type |
TSPN
|
21 |
193 |
4.71e-56 |
SMART |
Pfam:COMP
|
226 |
270 |
8.2e-26 |
PFAM |
EGF
|
277 |
315 |
8.19e-2 |
SMART |
EGF_CA
|
316 |
369 |
6.91e-9 |
SMART |
EGF_CA
|
370 |
413 |
1.38e-8 |
SMART |
Pfam:TSP_3
|
455 |
490 |
4.4e-13 |
PFAM |
Pfam:TSP_3
|
514 |
549 |
9.3e-17 |
PFAM |
Pfam:TSP_3
|
549 |
572 |
2.8e-7 |
PFAM |
Pfam:TSP_3
|
573 |
610 |
1.1e-14 |
PFAM |
Pfam:TSP_3
|
611 |
650 |
1e-10 |
PFAM |
Pfam:TSP_3
|
651 |
686 |
1.8e-15 |
PFAM |
Pfam:TSP_C
|
704 |
904 |
7.9e-108 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119222
|
SMART Domains |
Protein: ENSMUSP00000113986 Gene: ENSMUSG00000064068
Domain | Start | End | E-Value | Type |
Pfam:Tom37
|
12 |
57 |
1.6e-11 |
PFAM |
Pfam:Tom37_C
|
138 |
216 |
5.4e-24 |
PFAM |
Pfam:GST_C_3
|
166 |
282 |
1.1e-11 |
PFAM |
Pfam:GST_C_2
|
169 |
276 |
1.8e-8 |
PFAM |
Pfam:Tom37_C
|
199 |
268 |
7.2e-15 |
PFAM |
low complexity region
|
295 |
314 |
N/A |
INTRINSIC |
transmembrane domain
|
315 |
337 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126315
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126700
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173239
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146435
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156847
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173477
|
SMART Domains |
Protein: ENSMUSP00000133282 Gene: ENSMUSG00000064068
Domain | Start | End | E-Value | Type |
Pfam:Tom37
|
1 |
58 |
8.5e-16 |
PFAM |
Pfam:Tom37_C
|
77 |
155 |
9.7e-24 |
PFAM |
Pfam:GST_C_3
|
104 |
221 |
8.2e-12 |
PFAM |
Pfam:GST_C_2
|
107 |
216 |
7.5e-9 |
PFAM |
Pfam:Tom37_C
|
138 |
207 |
1.3e-14 |
PFAM |
low complexity region
|
234 |
253 |
N/A |
INTRINSIC |
transmembrane domain
|
254 |
276 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173593
|
SMART Domains |
Protein: ENSMUSP00000133866 Gene: ENSMUSG00000064068
Domain | Start | End | E-Value | Type |
Pfam:Tom37
|
14 |
82 |
1.1e-21 |
PFAM |
Pfam:Tom37_C
|
102 |
178 |
3.4e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152789
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142051
|
SMART Domains |
Protein: ENSMUSP00000116136 Gene: ENSMUSG00000028047
Domain | Start | End | E-Value | Type |
TSPN
|
1 |
124 |
2.52e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150303
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173465
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174126
|
SMART Domains |
Protein: ENSMUSP00000133291 Gene: ENSMUSG00000064068
Domain | Start | End | E-Value | Type |
Pfam:Tom37_C
|
1 |
74 |
7.6e-23 |
PFAM |
Pfam:GST_C_3
|
7 |
143 |
7.3e-12 |
PFAM |
Pfam:GST_C_2
|
26 |
137 |
2.8e-9 |
PFAM |
Pfam:Tom37_C
|
61 |
129 |
6.2e-15 |
PFAM |
low complexity region
|
159 |
169 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.7%
- 20x: 88.0%
|
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 belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011] PHENOTYPE: Homozygous null mice at a young age are heavier and exhibit femurs with increased periosteal and endocortical diameters, greater moments of inertia and increased bending strength and failure loads, with these defects no longer detected in older mice. Femoral heads show accelerated bone ossification. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,214,084 (GRCm39) |
Y304H |
possibly damaging |
Het |
Add2 |
A |
G |
6: 86,075,655 (GRCm39) |
E268G |
probably damaging |
Het |
Akr1b1 |
A |
C |
6: 34,289,609 (GRCm39) |
V67G |
probably benign |
Het |
Alms1 |
A |
T |
6: 85,599,937 (GRCm39) |
N1588Y |
probably damaging |
Het |
Arhgap23 |
A |
T |
11: 97,366,965 (GRCm39) |
D1082V |
probably damaging |
Het |
Asb6 |
A |
G |
2: 30,714,207 (GRCm39) |
V301A |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
Atg7 |
T |
A |
6: 114,648,194 (GRCm39) |
C31S |
probably benign |
Het |
Camsap2 |
A |
T |
1: 136,208,176 (GRCm39) |
N1105K |
possibly damaging |
Het |
Ccdc125 |
C |
T |
13: 100,820,877 (GRCm39) |
|
probably null |
Het |
Ccdc63 |
T |
C |
5: 122,267,799 (GRCm39) |
I56V |
possibly damaging |
Het |
Cpd |
T |
C |
11: 76,681,714 (GRCm39) |
E1143G |
probably benign |
Het |
Cpt1a |
T |
A |
19: 3,421,556 (GRCm39) |
|
probably null |
Het |
Creb3l2 |
A |
T |
6: 37,311,369 (GRCm39) |
D473E |
probably benign |
Het |
Crocc |
A |
T |
4: 140,761,668 (GRCm39) |
|
probably null |
Het |
Ctsd |
A |
T |
7: 141,930,451 (GRCm39) |
C364S |
probably damaging |
Het |
Disp2 |
G |
T |
2: 118,620,275 (GRCm39) |
V336L |
probably benign |
Het |
Efr3b |
A |
G |
12: 4,017,106 (GRCm39) |
I782T |
possibly damaging |
Het |
Fam98a |
A |
G |
17: 75,846,427 (GRCm39) |
V230A |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,899,788 (GRCm39) |
T3082S |
probably benign |
Het |
Frmd3 |
T |
C |
4: 74,105,688 (GRCm39) |
Y445H |
probably damaging |
Het |
Galt |
G |
A |
4: 41,757,202 (GRCm39) |
R185Q |
probably benign |
Het |
Gatb |
T |
C |
3: 85,520,818 (GRCm39) |
I309T |
possibly damaging |
Het |
Gfi1b |
G |
A |
2: 28,503,820 (GRCm39) |
Q127* |
probably null |
Het |
Gfpt1 |
C |
A |
6: 87,063,302 (GRCm39) |
T563N |
probably damaging |
Het |
Gria1 |
A |
G |
11: 57,108,608 (GRCm39) |
D237G |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,666,465 (GRCm39) |
V305D |
probably benign |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Iars1 |
T |
C |
13: 49,859,307 (GRCm39) |
V9A |
probably damaging |
Het |
Ipo4 |
G |
A |
14: 55,869,596 (GRCm39) |
P355S |
probably damaging |
Het |
Jade2 |
G |
T |
11: 51,717,413 (GRCm39) |
C314* |
probably null |
Het |
Kri1 |
T |
C |
9: 21,186,565 (GRCm39) |
E597G |
probably benign |
Het |
Mcub |
A |
G |
3: 129,720,038 (GRCm39) |
Y152H |
probably damaging |
Het |
Med23 |
C |
T |
10: 24,779,646 (GRCm39) |
R542* |
probably null |
Het |
Ndc80 |
T |
C |
17: 71,818,483 (GRCm39) |
N291S |
probably benign |
Het |
Nop2 |
T |
C |
6: 125,110,529 (GRCm39) |
|
probably null |
Het |
Nrxn1 |
T |
C |
17: 90,896,218 (GRCm39) |
N984S |
probably damaging |
Het |
Ntm |
A |
C |
9: 28,920,671 (GRCm39) |
L86R |
probably damaging |
Het |
Numa1 |
T |
A |
7: 101,661,219 (GRCm39) |
D1847E |
possibly damaging |
Het |
Odf2l |
A |
G |
3: 144,845,624 (GRCm39) |
Q334R |
probably damaging |
Het |
Or10ak11 |
A |
T |
4: 118,687,588 (GRCm39) |
|
probably null |
Het |
Or2ag2 |
C |
T |
7: 106,485,134 (GRCm39) |
V297I |
possibly damaging |
Het |
Or4a39 |
T |
A |
2: 89,237,316 (GRCm39) |
T36S |
probably damaging |
Het |
Or5ac17 |
T |
C |
16: 59,036,296 (GRCm39) |
R227G |
probably benign |
Het |
Or6ae1 |
A |
T |
7: 139,742,722 (GRCm39) |
V47E |
possibly damaging |
Het |
Or6c203 |
A |
G |
10: 129,010,224 (GRCm39) |
V222A |
probably benign |
Het |
Pacc1 |
A |
G |
1: 191,073,037 (GRCm39) |
R153G |
probably benign |
Het |
Pcdhb19 |
A |
T |
18: 37,630,776 (GRCm39) |
K190N |
probably damaging |
Het |
Pdik1l |
A |
G |
4: 134,006,352 (GRCm39) |
F197L |
probably damaging |
Het |
Rnf113a2 |
T |
C |
12: 84,464,764 (GRCm39) |
F219L |
probably damaging |
Het |
Rnf208 |
A |
C |
2: 25,133,776 (GRCm39) |
T157P |
probably damaging |
Het |
Scn8a |
A |
T |
15: 100,881,865 (GRCm39) |
D644V |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,851,565 (GRCm39) |
I444T |
probably damaging |
Het |
Trpm8 |
A |
T |
1: 88,282,191 (GRCm39) |
I696F |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,660,941 (GRCm39) |
V7422D |
possibly damaging |
Het |
Ufl1 |
A |
G |
4: 25,278,038 (GRCm39) |
V139A |
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,308,238 (GRCm39) |
V381D |
probably benign |
Het |
Vgll3 |
T |
A |
16: 65,636,367 (GRCm39) |
Y173N |
probably damaging |
Het |
Vmn1r9 |
A |
G |
6: 57,048,158 (GRCm39) |
T78A |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,472,114 (GRCm39) |
L806M |
probably damaging |
Het |
Vps13d |
A |
C |
4: 144,895,079 (GRCm39) |
H394Q |
probably benign |
Het |
Wdr53 |
T |
A |
16: 32,075,536 (GRCm39) |
V247D |
probably damaging |
Het |
Wdr81 |
A |
T |
11: 75,338,695 (GRCm39) |
L1488Q |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,809,732 (GRCm39) |
D3G |
possibly damaging |
Het |
Zfp93 |
G |
T |
7: 23,975,725 (GRCm39) |
C570F |
probably damaging |
Het |
Zfp943 |
C |
T |
17: 22,212,357 (GRCm39) |
T481I |
probably benign |
Het |
|
Other mutations in Thbs3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01838:Thbs3
|
APN |
3 |
89,126,365 (GRCm39) |
nonsense |
probably null |
|
IGL02927:Thbs3
|
APN |
3 |
89,127,514 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02980:Thbs3
|
UTSW |
3 |
89,130,451 (GRCm39) |
missense |
probably benign |
|
R0648:Thbs3
|
UTSW |
3 |
89,123,972 (GRCm39) |
splice site |
probably null |
|
R0690:Thbs3
|
UTSW |
3 |
89,127,472 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1856:Thbs3
|
UTSW |
3 |
89,133,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R1928:Thbs3
|
UTSW |
3 |
89,125,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R2116:Thbs3
|
UTSW |
3 |
89,126,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R4600:Thbs3
|
UTSW |
3 |
89,131,897 (GRCm39) |
missense |
probably damaging |
0.97 |
R4719:Thbs3
|
UTSW |
3 |
89,124,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R4947:Thbs3
|
UTSW |
3 |
89,133,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R4989:Thbs3
|
UTSW |
3 |
89,130,409 (GRCm39) |
intron |
probably benign |
|
R5134:Thbs3
|
UTSW |
3 |
89,130,409 (GRCm39) |
intron |
probably benign |
|
R5217:Thbs3
|
UTSW |
3 |
89,130,471 (GRCm39) |
critical splice donor site |
probably null |
|
R5305:Thbs3
|
UTSW |
3 |
89,125,283 (GRCm39) |
intron |
probably benign |
|
R5354:Thbs3
|
UTSW |
3 |
89,128,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R5444:Thbs3
|
UTSW |
3 |
89,130,692 (GRCm39) |
intron |
probably benign |
|
R5569:Thbs3
|
UTSW |
3 |
89,126,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R5646:Thbs3
|
UTSW |
3 |
89,126,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R5801:Thbs3
|
UTSW |
3 |
89,131,704 (GRCm39) |
missense |
probably benign |
0.15 |
R5886:Thbs3
|
UTSW |
3 |
89,127,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R6031:Thbs3
|
UTSW |
3 |
89,125,401 (GRCm39) |
missense |
probably damaging |
0.99 |
R6943:Thbs3
|
UTSW |
3 |
89,132,171 (GRCm39) |
missense |
probably benign |
0.01 |
R7017:Thbs3
|
UTSW |
3 |
89,131,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R7352:Thbs3
|
UTSW |
3 |
89,132,587 (GRCm39) |
missense |
probably benign |
0.03 |
R7570:Thbs3
|
UTSW |
3 |
89,126,359 (GRCm39) |
nonsense |
probably null |
|
R7671:Thbs3
|
UTSW |
3 |
89,124,014 (GRCm39) |
missense |
probably benign |
0.01 |
R7707:Thbs3
|
UTSW |
3 |
89,132,207 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8255:Thbs3
|
UTSW |
3 |
89,132,565 (GRCm39) |
missense |
probably benign |
|
R8341:Thbs3
|
UTSW |
3 |
89,132,698 (GRCm39) |
missense |
probably benign |
|
R8769:Thbs3
|
UTSW |
3 |
89,131,937 (GRCm39) |
intron |
probably benign |
|
R9536:Thbs3
|
UTSW |
3 |
89,124,044 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Predicted Primers |
|
Posted On |
2017-06-26 |