Incidental Mutation 'R0968:Fgf12'
ID 83964
Institutional Source Beutler Lab
Gene Symbol Fgf12
Ensembl Gene ENSMUSG00000022523
Gene Name fibroblast growth factor 12
Synonyms Fhf1
MMRRC Submission 039097-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0968 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 27978850-28571820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27981185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 177 (N177S)
Ref Sequence ENSEMBL: ENSMUSP00000155924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100024] [ENSMUST00000232352]
AlphaFold P61329
Predicted Effect probably benign
Transcript: ENSMUST00000100024
AA Change: N239S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000097601
Gene: ENSMUSG00000022523
AA Change: N239S

DomainStartEndE-ValueType
FGF 71 202 1.22e-62 SMART
Predicted Effect probably null
Transcript: ENSMUST00000232352
AA Change: N177S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232632
Meta Mutation Damage Score 0.0705 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 94% (34/36)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,967 (GRCm39) V719M probably damaging Het
Abca13 A G 11: 9,248,016 (GRCm39) S2588G probably benign Het
Acaca C T 11: 84,129,859 (GRCm39) Q405* probably null Het
Brms1l G A 12: 55,912,798 (GRCm39) D264N possibly damaging Het
Cabcoco1 T C 10: 68,272,202 (GRCm39) M254V probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Coro7 G C 16: 4,487,919 (GRCm39) probably benign Het
Cylc2 A G 4: 51,216,706 (GRCm39) M1V probably null Het
Cyp3a11 G A 5: 145,799,324 (GRCm39) probably benign Het
Dnah10 C T 5: 124,906,641 (GRCm39) T4224M probably damaging Het
Dnah2 T C 11: 69,339,345 (GRCm39) E3054G possibly damaging Het
Dnm3 A G 1: 161,847,388 (GRCm39) probably benign Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
Flt3 C T 5: 147,278,037 (GRCm39) V846I possibly damaging Het
Gm11569 A T 11: 99,689,250 (GRCm39) probably benign Het
Gm12695 A C 4: 96,650,303 (GRCm39) V181G probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Lars1 C A 18: 42,351,648 (GRCm39) R852L probably benign Het
Lca5 T C 9: 83,305,222 (GRCm39) T195A probably benign Het
Lrrc40 G A 3: 157,742,426 (GRCm39) D14N probably damaging Het
Map4k2 T C 19: 6,395,487 (GRCm39) S327P probably damaging Het
Mpp4 A G 1: 59,169,249 (GRCm39) F397L probably damaging Het
Mtus2 T C 5: 148,014,994 (GRCm39) S596P probably benign Het
Myo3a T A 2: 22,448,301 (GRCm39) N25K probably damaging Het
Nadsyn1 T C 7: 143,359,770 (GRCm39) T401A probably benign Het
Pde6a A T 18: 61,386,809 (GRCm39) E395D probably damaging Het
Plekhm2 A G 4: 141,357,243 (GRCm39) V743A probably benign Het
Pzp A T 6: 128,502,108 (GRCm39) D80E probably benign Het
Rp1 A T 1: 4,415,575 (GRCm39) C1846S probably benign Het
Shbg A G 11: 69,508,014 (GRCm39) L117P probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Supt20 A G 3: 54,615,821 (GRCm39) probably benign Het
Vcpip1 A T 1: 9,816,604 (GRCm39) I593N 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
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
R5885:Fgf12 UTSW 16 28,217,046 (GRCm39) missense possibly damaging 0.93
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'- ACATTGCAACAGGCAAGCTTTGG -3'
(R):5'- GAACAGAACAACTGCCATGTCTGC -3'

Sequencing Primer
(F):5'- CCTACACAAAGGAAGATTTTGAGTGC -3'
(R):5'- GTGTCTGATAGAAGCAGAAATTACC -3'
Posted On 2013-11-08