Incidental Mutation 'BB007:Comp'
ID |
642413 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Comp
|
Ensembl Gene |
ENSMUSG00000031849 |
Gene Name |
cartilage oligomeric matrix protein |
Synonyms |
TSP5, thrombospondin-5 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.291)
|
Stock # |
BB007
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70826208-70834716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 70826503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 26
(G26D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003659]
|
AlphaFold |
Q9R0G6 |
PDB Structure |
Storage function of COMP:the crystal structure of the coiled-coil domain in complex with vitamin D3 [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]
COMPcc in complex with fatty acids [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003659
AA Change: G26D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003659 Gene: ENSMUSG00000031849 AA Change: G26D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:COMP
|
28 |
72 |
6.2e-22 |
PFAM |
EGF
|
88 |
124 |
8.19e-2 |
SMART |
EGF_CA
|
125 |
177 |
5.08e-7 |
SMART |
EGF_CA
|
178 |
220 |
1.73e-9 |
SMART |
EGF
|
226 |
265 |
7.53e-1 |
SMART |
Pfam:TSP_3
|
299 |
334 |
6.1e-16 |
PFAM |
Pfam:TSP_3
|
358 |
393 |
1.2e-15 |
PFAM |
Pfam:TSP_3
|
393 |
416 |
2.7e-6 |
PFAM |
Pfam:TSP_3
|
417 |
454 |
1.6e-14 |
PFAM |
Pfam:TSP_3
|
455 |
490 |
3.7e-14 |
PFAM |
Pfam:TSP_3
|
491 |
526 |
6.1e-15 |
PFAM |
Pfam:TSP_C
|
544 |
741 |
2.6e-101 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213072
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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 is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016] PHENOTYPE: Mice homozygous for a targeted null mutation are indistinguishable from controls. Mice homozygous for a knockin allele with two point mutations exhibit short limb dwarfism, osteoarthritis, abnormal chondrocytes, mild myopathy, and abnormal tendon morphology and stiffness. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam20 |
C |
T |
8: 41,250,107 (GRCm39) |
T739I |
probably benign |
Het |
Adam23 |
G |
T |
1: 63,624,586 (GRCm39) |
V805F |
possibly damaging |
Het |
Adamts17 |
A |
T |
7: 66,499,547 (GRCm39) |
R31S |
probably damaging |
Het |
Ano4 |
T |
A |
10: 89,163,138 (GRCm39) |
Y27F |
possibly damaging |
Het |
Bbs2 |
A |
G |
8: 94,796,625 (GRCm39) |
V675A |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,481,975 (GRCm39) |
E2839G |
probably damaging |
Het |
Capn5 |
C |
T |
7: 97,773,085 (GRCm39) |
V640I |
probably benign |
Het |
Casp4 |
C |
T |
9: 5,321,318 (GRCm39) |
T23M |
probably damaging |
Het |
Cerk |
C |
T |
15: 86,028,920 (GRCm39) |
E379K |
possibly damaging |
Het |
Cpxm1 |
G |
A |
2: 130,236,982 (GRCm39) |
A220V |
possibly damaging |
Het |
Cyp2c69 |
G |
T |
19: 39,831,434 (GRCm39) |
P460T |
possibly damaging |
Het |
Ddx23 |
T |
C |
15: 98,546,504 (GRCm39) |
D555G |
probably damaging |
Het |
E2f6 |
T |
A |
12: 16,869,058 (GRCm39) |
I127K |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,733,589 (GRCm39) |
D716E |
probably benign |
Het |
Esp16 |
T |
G |
17: 39,850,868 (GRCm39) |
S82R |
possibly damaging |
Het |
Fasn |
A |
C |
11: 120,700,061 (GRCm39) |
S2199A |
probably benign |
Het |
Fscb |
A |
G |
12: 64,519,337 (GRCm39) |
S710P |
unknown |
Het |
Gas7 |
A |
G |
11: 67,556,217 (GRCm39) |
I185M |
probably damaging |
Het |
Glg1 |
A |
T |
8: 111,887,367 (GRCm39) |
L1047I |
possibly damaging |
Het |
Golga5 |
A |
G |
12: 102,450,681 (GRCm39) |
N445D |
probably benign |
Het |
Grin2c |
A |
T |
11: 115,147,063 (GRCm39) |
H377Q |
probably benign |
Het |
Hmgcs1 |
T |
C |
13: 120,161,499 (GRCm39) |
I97T |
possibly damaging |
Het |
Ifi211 |
T |
C |
1: 173,733,769 (GRCm39) |
T131A |
possibly damaging |
Het |
Ifngr1 |
A |
G |
10: 19,484,931 (GRCm39) |
K310R |
probably damaging |
Het |
Il18rap |
T |
C |
1: 40,587,803 (GRCm39) |
V467A |
probably damaging |
Het |
Itgad |
C |
A |
7: 127,782,280 (GRCm39) |
Q239K |
probably benign |
Het |
Jrkl |
T |
C |
9: 13,245,506 (GRCm39) |
I52V |
possibly damaging |
Het |
Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
Krt75 |
C |
A |
15: 101,473,318 (GRCm39) |
*552L |
probably null |
Het |
Mbd2 |
A |
G |
18: 70,701,948 (GRCm39) |
D154G |
probably damaging |
Het |
Mutyh |
A |
T |
4: 116,674,153 (GRCm39) |
N235Y |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,864,825 (GRCm39) |
T1348A |
probably benign |
Het |
Ndufs7 |
T |
C |
10: 80,089,619 (GRCm39) |
|
probably null |
Het |
Nup205 |
T |
G |
6: 35,171,511 (GRCm39) |
M458R |
probably damaging |
Het |
Or1e32 |
A |
C |
11: 73,705,926 (GRCm39) |
|
probably benign |
Het |
Or1j4 |
G |
T |
2: 36,740,285 (GRCm39) |
V76F |
probably damaging |
Het |
Or2at1 |
A |
T |
7: 99,416,803 (GRCm39) |
T145S |
probably benign |
Het |
Or5b119 |
G |
A |
19: 13,457,019 (GRCm39) |
P181L |
probably damaging |
Het |
Or6b2 |
T |
A |
1: 92,407,570 (GRCm39) |
M258L |
probably benign |
Het |
Or8b101 |
A |
G |
9: 38,020,264 (GRCm39) |
N89S |
possibly damaging |
Het |
Or8k25 |
T |
A |
2: 86,243,560 (GRCm39) |
T279S |
probably damaging |
Het |
Plcl2 |
T |
G |
17: 50,913,831 (GRCm39) |
I280S |
probably benign |
Het |
Ppargc1a |
A |
T |
5: 51,630,264 (GRCm39) |
Y618N |
unknown |
Het |
Rab43 |
A |
T |
6: 87,788,348 (GRCm39) |
I60N |
probably damaging |
Het |
Rnf126 |
A |
T |
10: 79,596,726 (GRCm39) |
C231S |
probably damaging |
Het |
Rnf220 |
T |
A |
4: 117,164,787 (GRCm39) |
E238D |
probably damaging |
Het |
Scn9a |
A |
T |
2: 66,335,193 (GRCm39) |
D1265E |
probably damaging |
Het |
Sntb2 |
T |
A |
8: 107,728,269 (GRCm39) |
S406T |
probably damaging |
Het |
Sos1 |
T |
C |
17: 80,714,267 (GRCm39) |
I1068V |
probably benign |
Het |
Spart |
A |
G |
3: 55,035,697 (GRCm39) |
K519E |
probably damaging |
Het |
Tlx3 |
A |
T |
11: 33,153,058 (GRCm39) |
F134L |
probably damaging |
Het |
Trbj1-2 |
A |
T |
6: 41,510,964 (GRCm39) |
T10S |
|
Het |
Txk |
A |
C |
5: 72,892,536 (GRCm39) |
L33R |
probably damaging |
Het |
Ulk2 |
A |
G |
11: 61,682,258 (GRCm39) |
|
probably null |
Het |
Usp20 |
T |
C |
2: 30,900,556 (GRCm39) |
S357P |
probably benign |
Het |
Wac |
T |
A |
18: 7,921,560 (GRCm39) |
N565K |
possibly damaging |
Het |
Zfp1007 |
A |
T |
5: 109,823,622 (GRCm39) |
C609* |
probably null |
Het |
Zfp709 |
G |
T |
8: 72,644,684 (GRCm39) |
K704N |
probably damaging |
Het |
Zfp788 |
C |
T |
7: 41,299,049 (GRCm39) |
Q562* |
probably null |
Het |
|
Other mutations in Comp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01596:Comp
|
APN |
8 |
70,831,285 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02110:Comp
|
APN |
8 |
70,826,289 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02721:Comp
|
APN |
8 |
70,828,731 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Comp
|
APN |
8 |
70,829,337 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL03023:Comp
|
APN |
8 |
70,831,260 (GRCm39) |
unclassified |
probably benign |
|
BB017:Comp
|
UTSW |
8 |
70,826,503 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03047:Comp
|
UTSW |
8 |
70,827,559 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0217:Comp
|
UTSW |
8 |
70,831,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R0503:Comp
|
UTSW |
8 |
70,828,384 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0659:Comp
|
UTSW |
8 |
70,831,751 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1490:Comp
|
UTSW |
8 |
70,826,563 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1663:Comp
|
UTSW |
8 |
70,826,250 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1666:Comp
|
UTSW |
8 |
70,831,607 (GRCm39) |
splice site |
probably null |
|
R1668:Comp
|
UTSW |
8 |
70,831,607 (GRCm39) |
splice site |
probably null |
|
R1789:Comp
|
UTSW |
8 |
70,829,796 (GRCm39) |
missense |
probably benign |
0.01 |
R2096:Comp
|
UTSW |
8 |
70,828,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R2157:Comp
|
UTSW |
8 |
70,832,220 (GRCm39) |
nonsense |
probably null |
|
R3836:Comp
|
UTSW |
8 |
70,826,509 (GRCm39) |
missense |
probably benign |
0.26 |
R4630:Comp
|
UTSW |
8 |
70,827,032 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4743:Comp
|
UTSW |
8 |
70,828,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R4747:Comp
|
UTSW |
8 |
70,829,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R5028:Comp
|
UTSW |
8 |
70,829,290 (GRCm39) |
missense |
probably damaging |
0.99 |
R5070:Comp
|
UTSW |
8 |
70,829,145 (GRCm39) |
missense |
probably benign |
0.25 |
R5083:Comp
|
UTSW |
8 |
70,833,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R5917:Comp
|
UTSW |
8 |
70,829,011 (GRCm39) |
splice site |
probably null |
|
R6705:Comp
|
UTSW |
8 |
70,829,387 (GRCm39) |
missense |
probably damaging |
0.98 |
R6965:Comp
|
UTSW |
8 |
70,829,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R7309:Comp
|
UTSW |
8 |
70,826,328 (GRCm39) |
splice site |
probably null |
|
R7402:Comp
|
UTSW |
8 |
70,829,854 (GRCm39) |
missense |
probably benign |
0.01 |
R7501:Comp
|
UTSW |
8 |
70,832,059 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7541:Comp
|
UTSW |
8 |
70,834,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7568:Comp
|
UTSW |
8 |
70,826,509 (GRCm39) |
missense |
probably benign |
0.26 |
R7930:Comp
|
UTSW |
8 |
70,826,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R8103:Comp
|
UTSW |
8 |
70,833,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R8259:Comp
|
UTSW |
8 |
70,831,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R8271:Comp
|
UTSW |
8 |
70,829,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R8677:Comp
|
UTSW |
8 |
70,832,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R9273:Comp
|
UTSW |
8 |
70,831,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R9355:Comp
|
UTSW |
8 |
70,828,699 (GRCm39) |
missense |
probably benign |
0.30 |
R9557:Comp
|
UTSW |
8 |
70,829,854 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Comp
|
UTSW |
8 |
70,829,871 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGTAAAGCCGCTTAGTAGG -3'
(R):5'- TCACTGCGATGTGCCTTCTG -3'
Sequencing Primer
(F):5'- CATGGTTGGACAGGAGGCC -3'
(R):5'- GCACCTGTTCTGCCCCG -3'
|
Posted On |
2020-08-01 |