Incidental Mutation 'R4083:Fmod'
| ID |
316971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmod
|
| Ensembl Gene |
ENSMUSG00000041559 |
| Gene Name |
fibromodulin |
| Synonyms |
SLRR2E |
| MMRRC Submission |
040978-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R4083 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
133964992-133976015 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 133968043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 28
(I28F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048183]
[ENSMUST00000162779]
|
| AlphaFold |
P50608 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048183
AA Change: I28F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035489
Gene: ENSMUSG00000041559
AA Change: I28F
| 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
AA Change: I28F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000124896
Gene: ENSMUSG00000041559
AA Change: I28F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
84 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (31/32) |
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah2 |
A |
G |
19: 31,964,184 (GRCm39) |
S749P |
probably benign |
Het |
| Ccdc159 |
T |
C |
9: 21,840,699 (GRCm39) |
S89P |
possibly damaging |
Het |
| Cnbd1 |
A |
T |
4: 18,886,042 (GRCm39) |
S326T |
possibly damaging |
Het |
| Dpy19l1 |
G |
A |
9: 24,396,344 (GRCm39) |
T124M |
possibly damaging |
Het |
| Gm8674 |
A |
T |
13: 50,055,047 (GRCm39) |
|
noncoding transcript |
Het |
| Grm3 |
T |
G |
5: 9,562,054 (GRCm39) |
I599L |
probably benign |
Het |
| Hgf |
G |
T |
5: 16,820,856 (GRCm39) |
G668* |
probably null |
Het |
| Hsd17b11 |
A |
T |
5: 104,138,434 (GRCm39) |
V280D |
possibly damaging |
Het |
| Igkv8-26 |
G |
T |
6: 70,170,547 (GRCm39) |
S46I |
probably damaging |
Het |
| Kdm7a |
T |
C |
6: 39,129,748 (GRCm39) |
E476G |
probably damaging |
Het |
| Lgals9 |
A |
T |
11: 78,860,589 (GRCm39) |
F162Y |
possibly damaging |
Het |
| Lig3 |
T |
A |
11: 82,681,320 (GRCm39) |
N437K |
probably benign |
Het |
| Mterf4 |
A |
C |
1: 93,232,380 (GRCm39) |
M157R |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,524,192 (GRCm39) |
W1683R |
probably damaging |
Het |
| Nmur2 |
G |
C |
11: 55,931,051 (GRCm39) |
P220R |
probably damaging |
Het |
| Or14j10 |
T |
G |
17: 37,935,316 (GRCm39) |
D70A |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,851 (GRCm39) |
P58T |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,347,142 (GRCm39) |
D979A |
probably damaging |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rab27a |
G |
T |
9: 72,989,721 (GRCm39) |
R64L |
probably damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,450,065 (GRCm39) |
L167Q |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,621,595 (GRCm39) |
V989A |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,516,071 (GRCm39) |
V330A |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,831,662 (GRCm39) |
M351T |
probably benign |
Het |
| Trav7d-3 |
C |
A |
14: 52,982,212 (GRCm39) |
H84Q |
probably benign |
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 |
|
IGL02279:Fmod
|
APN |
1 |
133,968,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGTCACAGTGTCAGTCAC -3'
(R):5'- GCGGTTGTCACAGTACATGG -3'
Sequencing Primer
(F):5'- TGTCAGTCACAGAGCCTATGG -3'
(R):5'- ACAGTACATGGCTGTGGGG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation