Incidental Mutation 'R4719:Thbs3'
| ID |
354282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Thbs3
|
| Ensembl Gene |
ENSMUSG00000028047 |
| Gene Name |
thrombospondin 3 |
| Synonyms |
TSP3, Thbs-3 |
| MMRRC Submission |
041957-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.558)
|
| Stock # |
R4719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89122487-89134144 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89124147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 80
(D80G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112912
(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: D80G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047
AA Change: D80G
| 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: D80G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047
AA Change: D80G
| 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: ENSMUST00000156847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146435
|
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173465
|
| 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 |
|
| Meta Mutation Damage Score |
0.3047 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
99% (76/77) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,089,971 (GRCm39) |
Y971C |
probably damaging |
Het |
| Actr5 |
T |
A |
2: 158,468,433 (GRCm39) |
S188T |
probably damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,586,896 (GRCm39) |
|
probably null |
Het |
| Agbl2 |
A |
G |
2: 90,645,733 (GRCm39) |
N822S |
probably benign |
Het |
| Ankdd1b |
T |
A |
13: 96,554,255 (GRCm39) |
|
probably benign |
Het |
| Arhgef40 |
C |
T |
14: 52,242,395 (GRCm39) |
|
probably benign |
Het |
| Art5 |
A |
G |
7: 101,747,701 (GRCm39) |
|
probably null |
Het |
| Atpsckmt |
T |
G |
15: 31,608,243 (GRCm39) |
V98G |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,046,390 (GRCm39) |
|
probably benign |
Het |
| Car9 |
G |
A |
4: 43,508,616 (GRCm39) |
W42* |
probably null |
Het |
| Cdh20 |
T |
C |
1: 104,862,035 (GRCm39) |
Y72H |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,043,718 (GRCm39) |
D407G |
possibly damaging |
Het |
| Cngb3 |
T |
A |
4: 19,309,562 (GRCm39) |
D73E |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,945,451 (GRCm39) |
F888I |
probably damaging |
Het |
| Dgat2 |
T |
C |
7: 98,807,504 (GRCm39) |
D222G |
probably benign |
Het |
| Dscaml1 |
T |
C |
9: 45,583,993 (GRCm39) |
M486T |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,425,460 (GRCm39) |
|
probably null |
Het |
| Fance |
T |
C |
17: 28,537,293 (GRCm39) |
|
probably benign |
Het |
| Fancm |
G |
T |
12: 65,168,480 (GRCm39) |
M1614I |
possibly damaging |
Het |
| Fcrl5 |
A |
T |
3: 87,351,496 (GRCm39) |
N248I |
probably damaging |
Het |
| Foxo3 |
G |
A |
10: 42,073,774 (GRCm39) |
R29W |
probably damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,718,797 (GRCm39) |
Y74H |
probably damaging |
Het |
| Gatd1 |
A |
C |
7: 140,990,981 (GRCm39) |
D55E |
probably benign |
Het |
| Gpr152 |
C |
A |
19: 4,193,223 (GRCm39) |
Q255K |
possibly damaging |
Het |
| Havcr1 |
A |
G |
11: 46,643,268 (GRCm39) |
T63A |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,118,865 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
A |
T |
19: 34,590,030 (GRCm39) |
Q402L |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,322,828 (GRCm39) |
L134S |
probably benign |
Het |
| Kcna10 |
A |
G |
3: 107,102,217 (GRCm39) |
T283A |
probably benign |
Het |
| Kmt2e |
A |
C |
5: 23,697,313 (GRCm39) |
R590S |
probably damaging |
Het |
| Lefty1 |
A |
T |
1: 180,765,277 (GRCm39) |
N282Y |
probably benign |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Lrrn2 |
T |
C |
1: 132,866,915 (GRCm39) |
V660A |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,824,935 (GRCm39) |
S1517P |
probably benign |
Het |
| Mcoln2 |
A |
G |
3: 145,881,468 (GRCm39) |
H208R |
probably benign |
Het |
| Mdga2 |
C |
T |
12: 66,517,775 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
T |
A |
11: 101,955,259 (GRCm39) |
E122V |
possibly damaging |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,526 (GRCm39) |
N70D |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,343,500 (GRCm39) |
E37D |
possibly damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,274,722 (GRCm39) |
|
probably null |
Het |
| Ncoa6 |
T |
C |
2: 155,233,081 (GRCm39) |
|
probably benign |
Het |
| Nfib |
C |
A |
4: 82,422,967 (GRCm39) |
|
probably null |
Het |
| Nostrin |
G |
T |
2: 68,975,156 (GRCm39) |
G24* |
probably null |
Het |
| Nudc |
A |
G |
4: 133,260,576 (GRCm39) |
Y293H |
probably damaging |
Het |
| Or51a42 |
T |
A |
7: 103,707,940 (GRCm39) |
N290Y |
probably damaging |
Het |
| Pcmtd1 |
T |
A |
1: 7,225,325 (GRCm39) |
Y41* |
probably null |
Het |
| Pigt |
T |
C |
2: 164,343,544 (GRCm39) |
L340P |
probably damaging |
Het |
| Pomgnt1 |
T |
C |
4: 116,012,972 (GRCm39) |
Y420H |
probably damaging |
Het |
| Pramel6 |
C |
T |
2: 87,341,096 (GRCm39) |
T476I |
probably benign |
Het |
| Ptprn2 |
T |
A |
12: 116,788,016 (GRCm39) |
H118Q |
possibly damaging |
Het |
| Rasl10a |
G |
A |
11: 5,008,517 (GRCm39) |
S71N |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,537 (GRCm39) |
|
noncoding transcript |
Het |
| Sash1 |
T |
A |
10: 8,605,477 (GRCm39) |
H971L |
probably benign |
Het |
| Secisbp2 |
T |
A |
13: 51,806,768 (GRCm39) |
F54L |
possibly damaging |
Het |
| Senp1 |
A |
T |
15: 97,954,731 (GRCm39) |
H484Q |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 124,995,913 (GRCm39) |
I22T |
possibly damaging |
Het |
| Slc25a36 |
A |
G |
9: 96,972,172 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,140,731 (GRCm39) |
S1443T |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,123,319 (GRCm39) |
T385A |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,933,936 (GRCm39) |
H291L |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,908,394 (GRCm39) |
S1349L |
probably damaging |
Het |
| Toporsl |
A |
G |
4: 52,611,996 (GRCm39) |
R630G |
probably benign |
Het |
| Vmn1r43 |
C |
A |
6: 89,846,837 (GRCm39) |
M216I |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,092,911 (GRCm39) |
E1068D |
probably benign |
Het |
| Wnt10a |
G |
A |
1: 74,842,762 (GRCm39) |
V413I |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,126,111 (GRCm39) |
|
probably null |
Het |
| Zfp169 |
T |
C |
13: 48,643,634 (GRCm39) |
I498V |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- CTGGCCAGTAATTGACCTGC -3'
(R):5'- ACAGTCATTGCTGGGACAC -3'
Sequencing Primer
(F):5'- CCAGTAATTGACCTGCTGACAGTG -3'
(R):5'- AGCCTGACCCAACTGTTTGAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation