Incidental Mutation 'IGL02863:Fgf13'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf13
Ensembl Gene ENSMUSG00000031137
Gene Namefibroblast growth factor 13
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02863
Quality Score
Chromosomal Location59062145-59568071 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59063669 bp
Amino Acid Change Valine to Alanine at position 201 (V201A)
Ref Sequence ENSEMBL: ENSMUSP00000033473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033473] [ENSMUST00000119306] [ENSMUST00000119833]
Predicted Effect probably damaging
Transcript: ENSMUST00000033473
AA Change: V201A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033473
Gene: ENSMUSG00000031137
AA Change: V201A

FGF 67 198 1.2e-70 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119306
AA Change: V148A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113206
Gene: ENSMUSG00000031137
AA Change: V148A

FGF 14 145 1.2e-70 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119833
AA Change: V143A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113639
Gene: ENSMUSG00000031137
AA Change: V143A

FGF 9 140 1.2e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138503
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked mental retardation mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]
PHENOTYPE: Males hemizgyous for a null allele die by E12.5. Heterozyous females for this allele develop spontaneous seizures and have increased susceptibility to hyperthermia-induced seizures and epilepsy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932429P05Rik C T X: 89,752,823 P87L possibly damaging Het
9130011E15Rik T A 19: 45,958,411 N256Y probably damaging Het
9330182L06Rik C A 5: 9,461,399 C920* probably null Het
Abcb11 T A 2: 69,284,682 H640L probably damaging Het
Akr1c19 T A 13: 4,237,113 Y110* probably null Het
Alk T A 17: 71,897,835 E1114V probably damaging Het
Anln A T 9: 22,376,365 D213E probably damaging Het
Ano9 T C 7: 141,108,651 N164S probably benign Het
Arhgef9 G A X: 95,077,504 R266C probably damaging Het
Arnt2 C T 7: 84,267,937 R483H probably damaging Het
Asxl3 A T 18: 22,523,484 N1517I probably benign Het
Baiap3 C T 17: 25,244,502 probably benign Het
Capn12 T A 7: 28,883,156 V152E probably damaging Het
Casq2 A G 3: 102,144,175 T324A possibly damaging Het
Cmtm7 T C 9: 114,763,389 T47A probably benign Het
Csmd2 A G 4: 128,521,884 S2669G probably benign Het
Dnah1 C T 14: 31,295,293 R1520H probably damaging Het
Dnah8 T C 17: 30,769,697 C3214R probably damaging Het
Fbn1 A T 2: 125,303,256 C2688S possibly damaging Het
Ghr A T 15: 3,328,102 L228* probably null Het
Gpr22 A G 12: 31,710,007 C39R probably benign Het
Hk1 T C 10: 62,295,755 T274A possibly damaging Het
Il18r1 T A 1: 40,487,007 L238M probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Map3k21 A T 8: 125,927,541 E366D probably benign Het
Mgat4e C T 1: 134,541,158 E383K probably benign Het
Mrc2 G A 11: 105,333,620 probably benign Het
Myh13 T A 11: 67,332,541 L229Q probably damaging Het
Myo15 T A 11: 60,478,127 L571Q probably damaging Het
Ncoa1 T A 12: 4,297,513 M354L probably benign Het
Nomo1 T C 7: 46,046,916 F286S probably damaging Het
Ocstamp A G 2: 165,397,508 F253L probably damaging Het
Olfr1062 A G 2: 86,423,113 S188P probably benign Het
Olfr1331 T G 4: 118,868,886 I34S possibly damaging Het
Osbpl8 T C 10: 111,284,425 probably benign Het
Parp4 T C 14: 56,648,786 L1774P unknown Het
Paxip1 T C 5: 27,759,395 S729G probably benign Het
Phlpp1 T A 1: 106,376,297 probably null Het
Pkd1 G A 17: 24,569,752 G828D possibly damaging Het
Raver1 A G 9: 21,075,971 L670P probably damaging Het
Rhd A G 4: 134,885,310 I291V probably damaging Het
Rorb C T 19: 18,952,253 E377K probably benign Het
Slc1a5 T C 7: 16,793,721 I314T probably benign Het
Synj1 T C 16: 90,961,434 T841A possibly damaging Het
Tenm4 T A 7: 96,873,706 L1448H probably damaging Het
Tmc3 A T 7: 83,622,285 S882C possibly damaging Het
Tmc3 G T 7: 83,622,286 S882I probably benign Het
Tmem168 T C 6: 13,582,918 N271D probably damaging Het
Uck1 G A 2: 32,258,322 R161C probably benign Het
Usp13 A G 3: 32,918,947 I759V possibly damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r115 G T 17: 23,359,283 V577F probably damaging Het
Other mutations in Fgf13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03400:Fgf13 APN X 59125888 splice site probably benign
Posted On2015-12-18