Incidental Mutation 'IGL01822:Fgf12'
ID154577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgf12
Ensembl Gene ENSMUSG00000022523
Gene Namefibroblast growth factor 12
SynonymsFhf1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01822
Quality Score
Status
Chromosome16
Chromosomal Location28160098-28753068 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 28189599 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 150 (S150T)
Ref Sequence ENSEMBL: ENSMUSP00000097601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100024] [ENSMUST00000231399] [ENSMUST00000232352]
Predicted Effect possibly damaging
Transcript: ENSMUST00000100024
AA Change: S150T

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097601
Gene: ENSMUSG00000022523
AA Change: S150T

DomainStartEndE-ValueType
FGF 71 202 1.22e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231399
AA Change: S114T

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231429
Predicted Effect probably benign
Transcript: ENSMUST00000232352
AA Change: S88T

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232632
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 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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cald1 A T 6: 34,753,572 T269S probably damaging Het
Cntnap5c T A 17: 58,055,705 I351N probably damaging Het
Dhcr7 T A 7: 143,845,499 I296N probably damaging Het
Dnah17 A G 11: 118,081,993 F2038S probably damaging Het
Dsel A G 1: 111,861,896 L303P probably damaging Het
Fabp12 G A 3: 10,246,022 R127* probably null Het
Fkbp15 A G 4: 62,352,504 M32T probably benign Het
Lrrc66 G A 5: 73,629,968 T13I probably benign Het
Mmgt2 T C 11: 62,665,006 V60A possibly damaging Het
Neb G T 2: 52,258,746 S2596R possibly damaging Het
Nfkbib T C 7: 28,761,709 D171G probably benign Het
Oas1a T C 5: 120,899,214 E250G probably benign Het
Olfr1197 A T 2: 88,728,792 I269N probably benign Het
Olfr134 C A 17: 38,175,448 D121E probably damaging Het
Rnf182 T C 13: 43,668,032 C20R probably damaging Het
Scn3a T C 2: 65,495,264 K970E probably damaging Het
Slc30a2 T A 4: 134,348,637 Y192N probably damaging Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Vmn2r100 T A 17: 19,504,838 C10S probably null Het
Vmn2r61 A T 7: 42,300,706 H850L probably benign Het
Vmn2r87 T C 10: 130,472,122 Y749C probably damaging Het
Wnt5b A T 6: 119,433,472 C336S probably damaging Het
Zfp398 G A 6: 47,866,271 R287Q probably damaging Het
Other mutations in Fgf12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0420:Fgf12 UTSW 16 28162529 missense possibly damaging 0.77
R0519:Fgf12 UTSW 16 28189628 missense probably benign 0.34
R0968:Fgf12 UTSW 16 28162433 missense probably null 0.00
R1216:Fgf12 UTSW 16 28162450 missense possibly damaging 0.51
R1686:Fgf12 UTSW 16 28398341 missense probably damaging 0.99
R2263:Fgf12 UTSW 16 28189611 nonsense probably null
R5885:Fgf12 UTSW 16 28398294 missense possibly damaging 0.93
R7170:Fgf12 UTSW 16 28445179 missense probably benign 0.13
Posted On2014-02-04