Incidental Mutation 'IGL02041:Fmod'
ID 184735
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) question?
Stock # IGL02041
Quality Score
Status
Chromosome 1
Chromosomal Location 133964992-133976015 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 133968001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 14 (S14A)
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: S14A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035489
Gene: ENSMUSG00000041559
AA Change: S14A

DomainStartEndE-ValueType
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: S14A

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124896
Gene: ENSMUSG00000041559
AA Change: S14A

DomainStartEndE-ValueType
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,772,674 (GRCm39) Q28L probably damaging Het
Abtb3 G A 10: 85,223,418 (GRCm39) D76N unknown Het
Afg1l A G 10: 42,330,376 (GRCm39) V97A probably damaging Het
Akap6 A C 12: 53,187,436 (GRCm39) S1617R probably damaging Het
Aldh1a3 T C 7: 66,057,579 (GRCm39) N285D probably damaging Het
Arhgap20 A T 9: 51,757,490 (GRCm39) N494I possibly damaging Het
Atg9a G T 1: 75,159,748 (GRCm39) Q712K possibly damaging Het
Cdcp2 G A 4: 106,964,386 (GRCm39) probably benign Het
Cds2 T A 2: 132,136,363 (GRCm39) I84N possibly damaging Het
Clcn3 T C 8: 61,376,187 (GRCm39) I596V probably damaging Het
Ctxn1 A G 8: 4,308,514 (GRCm39) L39P probably damaging Het
Efhb A T 17: 53,733,287 (GRCm39) V528D probably damaging Het
Foxh1 A G 15: 76,553,120 (GRCm39) F198S probably damaging Het
Gcc2 A G 10: 58,105,103 (GRCm39) E77G probably damaging Het
Gm5420 G T 10: 21,566,933 (GRCm39) noncoding transcript Het
Gm6434 T G 7: 25,581,655 (GRCm39) noncoding transcript Het
Il1b A T 2: 129,211,662 (GRCm39) N19K possibly damaging Het
Lama2 T A 10: 26,860,322 (GRCm39) D3055V probably damaging Het
Lcn3 G A 2: 25,655,636 (GRCm39) V18I probably benign Het
Lpcat2 A G 8: 93,644,809 (GRCm39) S533G probably benign Het
Map4k2 G A 19: 6,401,348 (GRCm39) R606Q probably benign Het
Mtnr1b T C 9: 15,774,589 (GRCm39) T157A probably benign Het
Myo15a G A 11: 60,397,689 (GRCm39) E2705K probably damaging Het
Ncf2 A G 1: 152,711,871 (GRCm39) probably benign Het
Nfkbil1 G A 17: 35,439,934 (GRCm39) T193M probably benign Het
Nmi T G 2: 51,850,641 (GRCm39) K9T possibly damaging Het
Or2d4 T C 7: 106,543,320 (GRCm39) D296G possibly damaging Het
Or5p69 T C 7: 107,966,742 (GRCm39) F15S probably damaging Het
Or6c6c A G 10: 129,541,104 (GRCm39) D119G probably damaging Het
Osbpl7 T A 11: 96,951,334 (GRCm39) C502S probably benign Het
Pex5 A T 6: 124,382,240 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,356,452 (GRCm39) probably null Het
Prmt3 C T 7: 49,478,711 (GRCm39) T424M possibly damaging Het
Rapgef4 G A 2: 72,029,140 (GRCm39) G404D probably damaging Het
Rbm5 C T 9: 107,633,045 (GRCm39) probably benign Het
Rfc2 T A 5: 134,623,098 (GRCm39) F238L probably benign Het
Rsl1 A G 13: 67,324,612 (GRCm39) E46G probably damaging Het
Sall1 A G 8: 89,758,097 (GRCm39) F669S probably damaging Het
Sipa1l2 A G 8: 126,218,558 (GRCm39) S260P probably benign Het
Slc26a8 A G 17: 28,861,225 (GRCm39) Y820H probably damaging Het
Tas2r115 A G 6: 132,714,430 (GRCm39) F174L probably benign Het
Terb1 A C 8: 105,221,746 (GRCm39) C185G probably damaging Het
Vmn2r108 A T 17: 20,683,398 (GRCm39) V602E probably damaging Het
Vmn2r58 T A 7: 41,514,703 (GRCm39) I89F probably damaging Het
Vps13b G T 15: 35,423,391 (GRCm39) R237L probably damaging Het
Zfp865 T C 7: 5,034,372 (GRCm39) S786P probably benign Het
Other mutations in Fmod
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-05-07