Incidental Mutation 'IGL02476:Fbrs'
ID294934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbrs
Ensembl Gene ENSMUSG00000042423
Gene Namefibrosin
SynonymsFbs1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.681) question?
Stock #IGL02476
Quality Score
Status
Chromosome7
Chromosomal Location127479199-127491711 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127487669 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 73 (D73G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048896] [ENSMUST00000205432] [ENSMUST00000206394]
Predicted Effect probably damaging
Transcript: ENSMUST00000048896
AA Change: D107G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043682
Gene: ENSMUSG00000042423
AA Change: D107G

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
Pfam:Auts2 82 282 4.8e-73 PFAM
low complexity region 298 310 N/A INTRINSIC
SCOP:d1gkub1 311 336 3e-6 SMART
low complexity region 341 361 N/A INTRINSIC
low complexity region 371 382 N/A INTRINSIC
low complexity region 416 428 N/A INTRINSIC
low complexity region 435 464 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196180
Predicted Effect probably damaging
Transcript: ENSMUST00000205432
AA Change: D621G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205696
Predicted Effect probably damaging
Transcript: ENSMUST00000205803
AA Change: D78G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205967
Predicted Effect possibly damaging
Transcript: ENSMUST00000206394
AA Change: D19G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000206484
AA Change: D73G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206980
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp T A 1: 74,281,524 probably benign Het
Birc6 A G 17: 74,696,391 E4752G possibly damaging Het
Chd1 C T 17: 15,734,273 P468S probably damaging Het
Cnot3 A G 7: 3,658,068 D556G probably benign Het
Csnk1d A G 11: 120,972,512 Y201H probably damaging Het
Dhtkd1 A G 2: 5,930,906 S132P possibly damaging Het
Dhx58 G T 11: 100,702,264 Q206K probably benign Het
Dio1 C A 4: 107,292,377 V195F probably damaging Het
Dio3 T C 12: 110,279,482 V84A probably benign Het
Extl3 T C 14: 65,077,244 K163R probably benign Het
Fat2 A T 11: 55,311,124 S375T probably damaging Het
Fnip1 A G 11: 54,499,567 probably benign Het
Frmpd4 A G X: 167,497,855 V343A probably damaging Het
Gcc1 T C 6: 28,420,469 D283G probably benign Het
Ghr T C 15: 3,320,046 D550G probably damaging Het
Glycam1 G A 15: 103,562,880 probably benign Het
Gpatch8 A G 11: 102,478,591 S1374P probably damaging Het
Grm1 A T 10: 10,689,453 M1037K probably benign Het
Gtpbp3 T C 8: 71,492,598 L438P probably damaging Het
Ifi205 G T 1: 174,015,061 N356K probably damaging Het
Ifi206 A G 1: 173,481,566 L288P probably benign Het
Ift57 T C 16: 49,763,889 V291A probably benign Het
Kif13a A C 13: 46,785,296 C166G probably damaging Het
Lypd6 A G 2: 50,190,728 T143A possibly damaging Het
Mtus2 G A 5: 148,077,938 A514T probably benign Het
Neu2 T C 1: 87,596,952 W220R probably damaging Het
Notch3 T C 17: 32,158,638 S155G possibly damaging Het
Nrxn2 A G 19: 6,454,985 E286G probably damaging Het
Onecut3 A G 10: 80,513,890 E406G probably benign Het
Oog2 T A 4: 144,195,229 D236E probably benign Het
Pck1 A G 2: 173,158,282 H502R probably benign Het
Pld1 A G 3: 28,048,039 Y313C probably damaging Het
Rhox3f A T X: 37,581,539 probably benign Het
Rpl34 A G 3: 130,726,964 probably benign Het
Sema4c T C 1: 36,555,950 K31E probably damaging Het
Sept11 T C 5: 93,148,584 probably null Het
Slc4a9 T A 18: 36,535,445 probably null Het
Snrnp200 T A 2: 127,217,488 S434T probably benign Het
Snx13 A T 12: 35,086,941 I134F probably damaging Het
Syt2 T C 1: 134,747,631 S407P probably benign Het
Tbc1d19 T C 5: 53,889,413 probably null Het
Tbc1d32 G T 10: 56,198,542 Q192K possibly damaging Het
Ubr4 T A 4: 139,421,249 C1681* probably null Het
Vmn1r43 T A 6: 89,870,061 I148F possibly damaging Het
Vwa8 T C 14: 78,925,341 V187A possibly damaging Het
Wdr78 T A 4: 103,087,348 I3L possibly damaging Het
Other mutations in Fbrs
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0096:Fbrs UTSW 7 127489487 missense probably damaging 0.99
R0096:Fbrs UTSW 7 127489487 missense probably damaging 0.99
R0133:Fbrs UTSW 7 127489610 splice site probably benign
R1579:Fbrs UTSW 7 127485357 missense probably damaging 1.00
R1617:Fbrs UTSW 7 127487711 missense probably damaging 1.00
R1640:Fbrs UTSW 7 127487311 missense probably damaging 1.00
R1958:Fbrs UTSW 7 127485991 missense possibly damaging 0.48
R2426:Fbrs UTSW 7 127487339 splice site probably null
R5797:Fbrs UTSW 7 127487291 missense probably damaging 1.00
R5952:Fbrs UTSW 7 127487752 missense probably damaging 0.99
R6659:Fbrs UTSW 7 127487919 missense probably damaging 1.00
R6988:Fbrs UTSW 7 127479508 unclassified probably benign
R7055:Fbrs UTSW 7 127487784 critical splice donor site probably null
R7319:Fbrs UTSW 7 127482813 missense possibly damaging 0.94
R7349:Fbrs UTSW 7 127482799 missense probably damaging 0.99
R7423:Fbrs UTSW 7 127489461 nonsense probably null
Posted On2015-04-16