Incidental Mutation 'IGL02279:Fmod'
| ID |
289777 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fmod
|
| Ensembl Gene |
ENSMUSG00000041559 |
| Gene Name |
fibromodulin |
| Synonyms |
SLRR2E |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
IGL02279
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
133964992-133976015 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133968235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 92
(C92S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048183]
[ENSMUST00000162779]
|
| AlphaFold |
P50608 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048183
AA Change: C92S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035489
Gene: ENSMUSG00000041559
AA Change: C92S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
LRRNT
|
75 |
109 |
6.04e-13 |
SMART |
|
LRR
|
105 |
127 |
8.98e1 |
SMART |
|
LRR
|
154 |
177 |
1.41e0 |
SMART |
|
LRR
|
178 |
198 |
2.82e0 |
SMART |
|
LRR
|
199 |
221 |
8.72e0 |
SMART |
|
LRR_TYP
|
222 |
245 |
2.2e-2 |
SMART |
|
LRR
|
246 |
266 |
8.73e1 |
SMART |
|
LRR
|
293 |
314 |
6.97e1 |
SMART |
|
LRR
|
342 |
367 |
6.78e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162779
|
| SMART Domains |
Protein: ENSMUSP00000124896
Gene: ENSMUSG00000041559
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
84 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a targeted null mutation contain more immature, small diameter collagen fibrils in the tendon and display an increase in age-dependent osteoarthritis and degenerative changes of the articular cartilage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
C |
8: 124,681,100 (GRCm39) |
S699G |
probably benign |
Het |
| Ak2 |
C |
T |
4: 128,893,030 (GRCm39) |
A63V |
probably benign |
Het |
| Bckdha |
T |
C |
7: 25,330,534 (GRCm39) |
Y354C |
probably damaging |
Het |
| Ess2 |
T |
C |
16: 17,720,775 (GRCm39) |
E357G |
possibly damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,964,727 (GRCm39) |
Y26C |
probably benign |
Het |
| Gpr45 |
T |
C |
1: 43,071,998 (GRCm39) |
S214P |
probably damaging |
Het |
| Lmod3 |
A |
G |
6: 97,224,633 (GRCm39) |
V396A |
probably damaging |
Het |
| Lpcat3 |
A |
G |
6: 124,675,072 (GRCm39) |
Y64C |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,881,391 (GRCm39) |
|
probably benign |
Het |
| Or5i1 |
C |
T |
2: 87,613,576 (GRCm39) |
R231C |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,896,957 (GRCm39) |
L31Q |
probably null |
Het |
| Or8c16 |
T |
C |
9: 38,130,389 (GRCm39) |
V90A |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,239,599 (GRCm39) |
D1296G |
probably damaging |
Het |
| Pitpnm1 |
T |
A |
19: 4,151,207 (GRCm39) |
I8N |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,781,771 (GRCm39) |
N538S |
probably damaging |
Het |
| Srrm2 |
T |
G |
17: 24,034,306 (GRCm39) |
|
probably benign |
Het |
| Svs3b |
G |
T |
2: 164,098,124 (GRCm39) |
Q66K |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,640,634 (GRCm39) |
K11959* |
probably null |
Het |
|
| Other mutations in Fmod |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02041:Fmod
|
APN |
1 |
133,968,001 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0499:Fmod
|
UTSW |
1 |
133,968,934 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1702:Fmod
|
UTSW |
1 |
133,968,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1887:Fmod
|
UTSW |
1 |
133,968,551 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1912:Fmod
|
UTSW |
1 |
133,968,458 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2145:Fmod
|
UTSW |
1 |
133,968,256 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3974:Fmod
|
UTSW |
1 |
133,968,496 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4083:Fmod
|
UTSW |
1 |
133,968,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4748:Fmod
|
UTSW |
1 |
133,968,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4888:Fmod
|
UTSW |
1 |
133,967,977 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6650:Fmod
|
UTSW |
1 |
133,968,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7396:Fmod
|
UTSW |
1 |
133,967,978 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7558:Fmod
|
UTSW |
1 |
133,968,731 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8445:Fmod
|
UTSW |
1 |
133,968,736 (GRCm39) |
missense |
probably benign |
|
|
R8737:Fmod
|
UTSW |
1 |
133,968,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8935:Fmod
|
UTSW |
1 |
133,968,586 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9325:Fmod
|
UTSW |
1 |
133,968,371 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9327:Fmod
|
UTSW |
1 |
133,968,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9387:Fmod
|
UTSW |
1 |
133,968,514 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1176:Fmod
|
UTSW |
1 |
133,968,657 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation