Incidental Mutation 'R5885:Fgf12'
ID 456062
Institutional Source Beutler Lab
Gene Symbol Fgf12
Ensembl Gene ENSMUSG00000022523
Gene Name fibroblast growth factor 12
Synonyms Fhf1
MMRRC Submission 043237-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5885 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 27978850-28571820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 28217046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 98 (D98E)
Ref Sequence ENSEMBL: ENSMUSP00000156274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100024] [ENSMUST00000231399] [ENSMUST00000231717] [ENSMUST00000232352]
AlphaFold P61329
Predicted Effect probably benign
Transcript: ENSMUST00000100024
AA Change: D98E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097601
Gene: ENSMUSG00000022523
AA Change: D98E

DomainStartEndE-ValueType
FGF 71 202 1.22e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231399
AA Change: D62E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231717
AA Change: D98E

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000232352
AA Change: D36E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.4%
  • 20x: 91.8%
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 growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and do not exhibit any significant behavioral or neurological phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot10 T A 15: 20,666,190 (GRCm39) M184L probably benign Het
Adgrv1 A T 13: 81,572,390 (GRCm39) S4924T probably benign Het
Atp10a T A 7: 58,463,548 (GRCm39) M1027K possibly damaging Het
Axl T A 7: 25,466,277 (GRCm39) K510I probably damaging Het
Azi2 T A 9: 117,876,628 (GRCm39) I48N probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Dnah3 T C 7: 119,668,927 (GRCm39) I720V probably benign Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Epas1 A G 17: 87,134,972 (GRCm39) D535G probably damaging Het
Fam47e A G 5: 92,713,827 (GRCm39) K152R probably damaging Het
Fbxl3 A T 14: 103,320,667 (GRCm39) I260K probably benign Het
Fcgr3 A G 1: 170,885,280 (GRCm39) V115A probably damaging Het
Flt3 T C 5: 147,286,439 (GRCm39) T716A probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gpr141b A T 13: 19,913,519 (GRCm39) noncoding transcript Het
Grin2a A G 16: 9,579,769 (GRCm39) Y165H possibly damaging Het
Ifna4 T A 4: 88,760,599 (GRCm39) W168R probably damaging Het
Itga11 A G 9: 62,670,132 (GRCm39) Y752C probably damaging Het
Khdrbs3 A G 15: 68,896,547 (GRCm39) probably null Het
Kif24 A T 4: 41,423,463 (GRCm39) Y263N probably damaging Het
Lama5 G T 2: 179,843,624 (GRCm39) T441K probably damaging Het
Lrrc47 T A 4: 154,100,429 (GRCm39) V335D possibly damaging Het
Map1b A T 13: 99,566,589 (GRCm39) I2044N unknown Het
Mast2 C T 4: 116,172,035 (GRCm39) G638S probably damaging Het
Myo9a T C 9: 59,778,503 (GRCm39) S1420P probably benign Het
Neurl2 T C 2: 164,674,811 (GRCm39) T184A probably damaging Het
Nfatc3 A G 8: 106,822,944 (GRCm39) I577V probably benign Het
Nipal3 A T 4: 135,199,288 (GRCm39) V186E probably damaging Het
Pgbd5 G A 8: 125,111,205 (GRCm39) T162M probably damaging Het
Plod2 T A 9: 92,488,709 (GRCm39) probably null Het
Psg22 T A 7: 18,452,257 (GRCm39) L19Q probably damaging Het
Psg27 T A 7: 18,295,711 (GRCm39) N245Y probably damaging Het
Ptprc T A 1: 138,016,246 (GRCm39) I539F probably damaging Het
Rad1 T C 15: 10,488,143 (GRCm39) L59P probably damaging Het
Slc2a9 G A 5: 38,598,017 (GRCm39) R137W probably damaging Het
Spats2l C T 1: 57,985,321 (GRCm39) A458V probably damaging Het
Sptbn5 A G 2: 119,907,144 (GRCm39) probably benign Het
Stox1 C A 10: 62,500,627 (GRCm39) L644F probably damaging Het
Sv2b C T 7: 74,806,501 (GRCm39) G213E probably damaging Het
Tas2r121 T G 6: 132,677,254 (GRCm39) L239F probably damaging Het
Trrap T A 5: 144,731,603 (GRCm39) V854E probably damaging Het
Vmn2r97 A G 17: 19,168,035 (GRCm39) Y763C possibly damaging Het
Xkr6 T A 14: 63,844,360 (GRCm39) W128R probably damaging Het
Other mutations in Fgf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01822:Fgf12 APN 16 28,008,351 (GRCm39) missense possibly damaging 0.86
R0420:Fgf12 UTSW 16 27,981,281 (GRCm39) missense possibly damaging 0.77
R0519:Fgf12 UTSW 16 28,008,380 (GRCm39) missense probably benign 0.34
R0968:Fgf12 UTSW 16 27,981,185 (GRCm39) missense probably null 0.00
R1216:Fgf12 UTSW 16 27,981,202 (GRCm39) missense possibly damaging 0.51
R1686:Fgf12 UTSW 16 28,217,093 (GRCm39) missense probably damaging 0.99
R2263:Fgf12 UTSW 16 28,008,363 (GRCm39) nonsense probably null
R7170:Fgf12 UTSW 16 28,263,931 (GRCm39) missense probably benign 0.13
R8856:Fgf12 UTSW 16 28,008,233 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGCATAGCCTCTCTGATATAGTG -3'
(R):5'- ACTGACCCCTTTCCAAATGC -3'

Sequencing Primer
(F):5'- GTCTAGCTCACTGATCATC -3'
(R):5'- CAATATTTATGACACGGGCATTTATG -3'
Posted On 2017-02-15