Incidental Mutation 'IGL02335:Fhl2'
ID289695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fhl2
Ensembl Gene ENSMUSG00000008136
Gene Namefour and a half LIM domains 2
SynonymsSLIM3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02335
Quality Score
Status
Chromosome1
Chromosomal Location43123074-43196984 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 43128390 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 181 (W181*)
Ref Sequence ENSEMBL: ENSMUSP00000141170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008280] [ENSMUST00000185893] [ENSMUST00000187357]
Predicted Effect probably null
Transcript: ENSMUST00000008280
AA Change: W181*
SMART Domains Protein: ENSMUSP00000008280
Gene: ENSMUSG00000008136
AA Change: W181*

DomainStartEndE-ValueType
LIM 39 92 1.35e-11 SMART
LIM 100 153 5.22e-18 SMART
LIM 161 212 3.29e-15 SMART
LIM 220 275 1.01e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185893
AA Change: W181*
SMART Domains Protein: ENSMUSP00000141170
Gene: ENSMUSG00000008136
AA Change: W181*

DomainStartEndE-ValueType
LIM 39 92 1.35e-11 SMART
LIM 100 153 5.22e-18 SMART
LIM 161 212 3.29e-15 SMART
LIM 220 275 1.01e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187357
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the four-and-a-half-LIM-only protein family. The encoded protein functions as a regulator in numerous signaling pathways and cellular processes in development and cellular differentiation, including development and maintenance of the cardiovascular system and striated muscles. This gene also plays a role in bone formation and regulates and bone mineral content and bone mineral density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation display osteopenia and osteoporosis; cardiovascular development is normal but cardiac hypertrophy develops in mutants in response to beta-adrenergic stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A T 7: 140,296,540 N526Y probably damaging Het
A4gnt C T 9: 99,620,213 T142I probably benign Het
Acaca A G 11: 84,214,258 T147A possibly damaging Het
Agbl3 A G 6: 34,799,750 D397G probably damaging Het
Ank1 C T 8: 23,135,638 T1597M possibly damaging Het
Arl4d A G 11: 101,666,929 T94A possibly damaging Het
Cd22 A G 7: 30,876,134 I161T probably damaging Het
Clcn7 C T 17: 25,146,847 L166F probably benign Het
Cnbd1 G T 4: 19,055,095 N110K possibly damaging Het
Col14a1 A T 15: 55,463,769 probably benign Het
Col6a6 C T 9: 105,784,101 V270M probably damaging Het
Cox8b C A 7: 140,899,077 G42W probably damaging Het
Csn1s1 A T 5: 87,680,845 D275V probably benign Het
Cubn T A 2: 13,427,834 probably null Het
Dctn2 T C 10: 127,275,821 probably benign Het
Dnm1l A G 16: 16,342,740 probably benign Het
Dpp4 T C 2: 62,334,644 E687G probably benign Het
Fbxw20 T C 9: 109,223,309 K249E possibly damaging Het
G2e3 T A 12: 51,369,158 M559K probably benign Het
Gdap1l1 A T 2: 163,447,595 Y160F possibly damaging Het
Gm1110 T C 9: 26,881,763 I572M probably benign Het
Gm5538 G A 3: 59,743,605 M49I probably benign Het
Gpatch2l T A 12: 86,256,937 probably benign Het
Kcnq4 A G 4: 120,715,854 L250P probably damaging Het
Lamc2 A T 1: 153,166,216 N57K probably benign Het
Lingo1 A G 9: 56,620,081 L408P probably damaging Het
Mmrn1 A T 6: 60,977,147 N804I possibly damaging Het
Mroh7 A G 4: 106,707,782 L545S probably damaging Het
Nup188 T A 2: 30,323,636 probably null Het
Olfr1442 T C 19: 12,674,238 I11T probably damaging Het
Olfr1494 A G 19: 13,749,934 D276G probably benign Het
Olfr96 A G 17: 37,225,326 N67S probably damaging Het
Pls1 A T 9: 95,784,183 N138K probably benign Het
Prkch C A 12: 73,702,512 N345K probably benign Het
Reps1 T C 10: 18,056,117 probably null Het
Rrp7a T C 15: 83,122,691 E15G probably benign Het
Scn1a T A 2: 66,277,661 T1557S possibly damaging Het
Smtn T C 11: 3,526,215 E602G probably damaging Het
Syvn1 T C 19: 6,050,093 probably null Het
Tbxas1 A G 6: 39,023,080 D267G probably damaging Het
Topbp1 A G 9: 103,328,523 N787D probably damaging Het
Vmn2r22 T G 6: 123,638,092 S180R probably damaging Het
Zfp345 T A 2: 150,474,543 E48D possibly damaging Het
Zfp608 G A 18: 54,897,437 Q1144* probably null Het
Zfp936 T A 7: 43,187,267 L34Q probably damaging Het
Other mutations in Fhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Fhl2 APN 1 43131681 missense probably benign 0.37
IGL01941:Fhl2 APN 1 43131672 nonsense probably null
IGL02216:Fhl2 APN 1 43131719 missense probably null 0.84
IGL02800:Fhl2 APN 1 43128402 missense probably benign 0.28
IGL03330:Fhl2 APN 1 43153191 missense probably damaging 1.00
IGL02799:Fhl2 UTSW 1 43128402 missense probably benign 0.28
IGL02802:Fhl2 UTSW 1 43123601 nonsense probably null
R0103:Fhl2 UTSW 1 43153221 missense probably benign 0.00
R0103:Fhl2 UTSW 1 43153221 missense probably benign 0.00
R0938:Fhl2 UTSW 1 43141706 missense possibly damaging 0.83
R6459:Fhl2 UTSW 1 43123653 missense possibly damaging 0.85
R6676:Fhl2 UTSW 1 43131810 missense possibly damaging 0.83
R7048:Fhl2 UTSW 1 43123648 missense probably damaging 1.00
R7143:Fhl2 UTSW 1 43141851 missense probably damaging 1.00
R7853:Fhl2 UTSW 1 43141824 missense probably damaging 0.96
R7936:Fhl2 UTSW 1 43141824 missense probably damaging 0.96
X0019:Fhl2 UTSW 1 43128409 missense possibly damaging 0.73
X0021:Fhl2 UTSW 1 43153143 missense probably benign
X0028:Fhl2 UTSW 1 43128300 missense probably benign 0.09
Posted On2015-04-16