Incidental Mutation 'R6650:Fmod'
ID 527723
Institutional Source Beutler Lab
Gene Symbol Fmod
Ensembl Gene ENSMUSG00000041559
Gene Name fibromodulin
Synonyms SLRR2E
MMRRC Submission 044771-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.245) question?
Stock # R6650 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 133964992-133976015 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133968745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 262 (S262G)
Ref Sequence ENSEMBL: ENSMUSP00000035489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048183] [ENSMUST00000162779]
AlphaFold P50608
Predicted Effect probably benign
Transcript: ENSMUST00000048183
AA Change: S262G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035489
Gene: ENSMUSG00000041559
AA Change: S262G

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
SMART Domains Protein: ENSMUSP00000124896
Gene: ENSMUSG00000041559

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 38 84 N/A INTRINSIC
Meta Mutation Damage Score 0.0591 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 A G 1: 78,659,639 (GRCm39) N97S probably benign Het
Aph1a T C 3: 95,803,598 (GRCm39) V220A probably benign Het
Bin2 T A 15: 100,567,301 (GRCm39) Q25L probably damaging Het
Ccdc102a T C 8: 95,639,892 (GRCm39) E134G probably benign Het
Cdh6 A G 15: 13,051,487 (GRCm39) V382A probably benign Het
Cep135 T A 5: 76,781,548 (GRCm39) V845E possibly damaging Het
Cngb3 T C 4: 19,364,168 (GRCm39) L124P probably damaging Het
Cped1 A G 6: 22,233,975 (GRCm39) N725S probably damaging Het
Dcn C A 10: 97,343,605 (GRCm39) N188K probably benign Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Ercc3 C T 18: 32,394,389 (GRCm39) R590C probably damaging Het
Fchsd1 A T 18: 38,099,555 (GRCm39) L213* probably null Het
Gm45861 T C 8: 27,995,043 (GRCm39) S530P unknown Het
Ifih1 T C 2: 62,436,791 (GRCm39) D544G possibly damaging Het
Itpr1 A G 6: 108,371,034 (GRCm39) probably null Het
Larp1 CA CAA 11: 57,949,422 (GRCm39) probably null Het
Lbp T A 2: 158,151,587 (GRCm39) S102R probably benign Het
Lepr C A 4: 101,672,398 (GRCm39) Q1141K probably damaging Het
Mcm8 C A 2: 132,663,327 (GRCm39) N148K probably benign Het
Mcpt4 T G 14: 56,298,090 (GRCm39) T154P possibly damaging Het
Mrpl22 A G 11: 58,066,134 (GRCm39) Y76C probably damaging Het
Msln T C 17: 25,969,144 (GRCm39) I414V probably benign Het
Ncor1 G A 11: 62,225,367 (GRCm39) T1798I probably damaging Het
Nlrp4c T A 7: 6,068,948 (GRCm39) F283Y probably damaging Het
Os9 C T 10: 126,935,953 (GRCm39) probably null Het
Pira12 T A 7: 3,898,632 (GRCm39) Q272L probably benign Het
Pira13 T A 7: 3,819,898 (GRCm39) H555L possibly damaging Het
Pja2 T C 17: 64,599,936 (GRCm39) E516G probably damaging Het
Pofut1 T A 2: 153,101,270 (GRCm39) probably benign Het
Prl2b1 G T 13: 27,569,249 (GRCm39) H116Q probably benign Het
Ralgapa2 T C 2: 146,230,422 (GRCm39) K1048E probably damaging Het
Scnn1b G A 7: 121,502,043 (GRCm39) V234M probably damaging Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Sh3pxd2a C T 19: 47,256,663 (GRCm39) G685D probably benign Het
Six4 C A 12: 73,150,299 (GRCm39) G749C probably benign Het
Tnn G A 1: 159,942,153 (GRCm39) T1115I probably damaging Het
Tpcn1 T A 5: 120,675,627 (GRCm39) Q779L probably null Het
Ugt2a2 A G 5: 87,622,459 (GRCm39) Y380H probably damaging Het
Xkr8 T C 4: 132,455,249 (GRCm39) T375A probably benign Het
Zdhhc20 T A 14: 58,096,032 (GRCm39) K135N probably damaging Het
Zfp235 T A 7: 23,836,463 (GRCm39) probably null Het
Zfp354c A G 11: 50,705,518 (GRCm39) V519A probably damaging Het
Other mutations in Fmod
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AACAATGCTTTGGAGGGCCTG -3'
(R):5'- CATTGATCCTGTTGCCCTGG -3'

Sequencing Primer
(F):5'- TGGAGAACCTCACGGCCTTATATC -3'
(R):5'- CCCTGGAGGTAAAGATTCTCCAG -3'
Posted On 2018-07-23