Incidental Mutation 'IGL02863:Fgf13'
ID362257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf13
Ensembl Gene ENSMUSG00000031137
Gene Namefibroblast growth factor 13
SynonymsFhf2
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02863
Quality Score
Status
ChromosomeX
Chromosomal Location59062145-59568071 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59063669 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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