Incidental Mutation 'IGL02863:Fgf13'
ID 362257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf13
Ensembl Gene ENSMUSG00000031137
Gene Name fibroblast growth factor 13
Synonyms Fhf2
Accession Numbers
Essential gene? Not available question?
Stock # IGL02863
Quality Score
Status
Chromosome X
Chromosomal Location 58107505-58613431 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58109029 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P70377
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
Abcb11 T A 2: 69,115,026 (GRCm39) H640L probably damaging Het
Akr1c19 T A 13: 4,287,112 (GRCm39) Y110* probably null Het
Alk T A 17: 72,204,830 (GRCm39) E1114V probably damaging Het
Anln A T 9: 22,287,661 (GRCm39) D213E probably damaging Het
Ano9 T C 7: 140,688,564 (GRCm39) N164S probably benign Het
Arhgef9 G A X: 94,121,110 (GRCm39) R266C probably damaging Het
Armh3 T A 19: 45,946,850 (GRCm39) N256Y probably damaging Het
Arnt2 C T 7: 83,917,145 (GRCm39) R483H probably damaging Het
Asxl3 A T 18: 22,656,541 (GRCm39) N1517I probably benign Het
Baiap3 C T 17: 25,463,476 (GRCm39) probably benign Het
Capn12 T A 7: 28,582,581 (GRCm39) V152E probably damaging Het
Casq2 A G 3: 102,051,491 (GRCm39) T324A possibly damaging Het
Cmtm7 T C 9: 114,592,457 (GRCm39) T47A probably benign Het
Csmd2 A G 4: 128,415,677 (GRCm39) S2669G probably benign Het
Dnah1 C T 14: 31,017,250 (GRCm39) R1520H probably damaging Het
Dnah8 T C 17: 30,988,671 (GRCm39) C3214R probably damaging Het
Elapor2 C A 5: 9,511,399 (GRCm39) C920* probably null Het
Fbn1 A T 2: 125,145,176 (GRCm39) C2688S possibly damaging Het
Ghr A T 15: 3,357,584 (GRCm39) L228* probably null Het
Gpr22 A G 12: 31,760,006 (GRCm39) C39R probably benign Het
Hk1 T C 10: 62,131,534 (GRCm39) T274A possibly damaging Het
Il18r1 T A 1: 40,526,167 (GRCm39) L238M probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Map3k21 A T 8: 126,654,280 (GRCm39) E366D probably benign Het
Mgat4e C T 1: 134,468,896 (GRCm39) E383K probably benign Het
Mrc2 G A 11: 105,224,446 (GRCm39) probably benign Het
Myh13 T A 11: 67,223,367 (GRCm39) L229Q probably damaging Het
Myo15a T A 11: 60,368,953 (GRCm39) L571Q probably damaging Het
Ncoa1 T A 12: 4,347,513 (GRCm39) M354L probably benign Het
Nomo1 T C 7: 45,696,340 (GRCm39) F286S probably damaging Het
Ocstamp A G 2: 165,239,428 (GRCm39) F253L probably damaging Het
Or10ak9 T G 4: 118,726,083 (GRCm39) I34S possibly damaging Het
Or8j3c A G 2: 86,253,457 (GRCm39) S188P probably benign Het
Osbpl8 T C 10: 111,120,286 (GRCm39) probably benign Het
Parp4 T C 14: 56,886,243 (GRCm39) L1774P unknown Het
Paxip1 T C 5: 27,964,393 (GRCm39) S729G probably benign Het
Phlpp1 T A 1: 106,304,027 (GRCm39) probably null Het
Pkd1 G A 17: 24,788,726 (GRCm39) G828D possibly damaging Het
Ppp4r3c2 C T X: 88,796,429 (GRCm39) P87L possibly damaging Het
Raver1 A G 9: 20,987,267 (GRCm39) L670P probably damaging Het
Rhd A G 4: 134,612,621 (GRCm39) I291V probably damaging Het
Rorb C T 19: 18,929,617 (GRCm39) E377K probably benign Het
Slc1a5 T C 7: 16,527,646 (GRCm39) I314T probably benign Het
Synj1 T C 16: 90,758,322 (GRCm39) T841A possibly damaging Het
Tenm4 T A 7: 96,522,913 (GRCm39) L1448H probably damaging Het
Tmc3 G T 7: 83,271,494 (GRCm39) S882I probably benign Het
Tmc3 A T 7: 83,271,493 (GRCm39) S882C possibly damaging Het
Tmem168 T C 6: 13,582,917 (GRCm39) N271D probably damaging Het
Uck1 G A 2: 32,148,334 (GRCm39) R161C probably benign Het
Usp13 A G 3: 32,973,096 (GRCm39) I759V possibly damaging Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I probably benign Het
Vmn2r115 G T 17: 23,578,257 (GRCm39) V577F probably damaging Het
Other mutations in Fgf13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03400:Fgf13 APN X 58,171,248 (GRCm39) splice site probably benign
Posted On 2015-12-18