Incidental Mutation 'IGL02335:Fhl2'
ID 289695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fhl2
Ensembl Gene ENSMUSG00000008136
Gene Name four and a half LIM domains 2
Synonyms SLIM3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02335
Quality Score
Status
Chromosome 1
Chromosomal Location 43162234-43236144 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 43167550 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O70433
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
A4gnt C T 9: 99,502,266 (GRCm39) T142I probably benign Het
Aadacl2fm2 G A 3: 59,651,026 (GRCm39) M49I probably benign Het
Acaca A G 11: 84,105,084 (GRCm39) T147A possibly damaging Het
Agbl3 A G 6: 34,776,685 (GRCm39) D397G probably damaging Het
Ank1 C T 8: 23,625,654 (GRCm39) T1597M possibly damaging Het
Arl4d A G 11: 101,557,755 (GRCm39) T94A possibly damaging Het
Cd22 A G 7: 30,575,559 (GRCm39) I161T probably damaging Het
Clcn7 C T 17: 25,365,821 (GRCm39) L166F probably benign Het
Cnbd1 G T 4: 19,055,095 (GRCm39) N110K possibly damaging Het
Col14a1 A T 15: 55,327,165 (GRCm39) probably benign Het
Col6a6 C T 9: 105,661,300 (GRCm39) V270M probably damaging Het
Cox8b C A 7: 140,478,990 (GRCm39) G42W probably damaging Het
Csn1s1 A T 5: 87,828,704 (GRCm39) D275V probably benign Het
Cubn T A 2: 13,432,645 (GRCm39) probably null Het
Dctn2 T C 10: 127,111,690 (GRCm39) probably benign Het
Dnm1l A G 16: 16,160,604 (GRCm39) probably benign Het
Dpp4 T C 2: 62,164,988 (GRCm39) E687G probably benign Het
Fbxw20 T C 9: 109,052,377 (GRCm39) K249E possibly damaging Het
G2e3 T A 12: 51,415,941 (GRCm39) M559K probably benign Het
Gdap1l1 A T 2: 163,289,515 (GRCm39) Y160F possibly damaging Het
Gm1110 T C 9: 26,793,059 (GRCm39) I572M probably benign Het
Gpatch2l T A 12: 86,303,711 (GRCm39) probably benign Het
Kcnq4 A G 4: 120,573,051 (GRCm39) L250P probably damaging Het
Lamc2 A T 1: 153,041,962 (GRCm39) N57K probably benign Het
Lingo1 A G 9: 56,527,365 (GRCm39) L408P probably damaging Het
Mmrn1 A T 6: 60,954,131 (GRCm39) N804I possibly damaging Het
Mroh7 A G 4: 106,564,979 (GRCm39) L545S probably damaging Het
Nup188 T A 2: 30,213,648 (GRCm39) probably null Het
Or10q1 A G 19: 13,727,298 (GRCm39) D276G probably benign Het
Or11a4 A G 17: 37,536,217 (GRCm39) N67S probably damaging Het
Or5b94 T C 19: 12,651,602 (GRCm39) I11T probably damaging Het
Pls1 A T 9: 95,666,236 (GRCm39) N138K probably benign Het
Prkch C A 12: 73,749,286 (GRCm39) N345K probably benign Het
Reps1 T C 10: 17,931,865 (GRCm39) probably null Het
Rrp7a T C 15: 83,006,892 (GRCm39) E15G probably benign Het
Scart2 A T 7: 139,876,453 (GRCm39) N526Y probably damaging Het
Scn1a T A 2: 66,108,005 (GRCm39) T1557S possibly damaging Het
Smtn T C 11: 3,476,215 (GRCm39) E602G probably damaging Het
Syvn1 T C 19: 6,100,123 (GRCm39) probably null Het
Tbxas1 A G 6: 39,000,014 (GRCm39) D267G probably damaging Het
Topbp1 A G 9: 103,205,722 (GRCm39) N787D probably damaging Het
Vmn2r22 T G 6: 123,615,051 (GRCm39) S180R probably damaging Het
Zfp345 T A 2: 150,316,463 (GRCm39) E48D possibly damaging Het
Zfp608 G A 18: 55,030,509 (GRCm39) Q1144* probably null Het
Zfp936 T A 7: 42,836,691 (GRCm39) L34Q probably damaging Het
Other mutations in Fhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Fhl2 APN 1 43,170,841 (GRCm39) missense probably benign 0.37
IGL01941:Fhl2 APN 1 43,170,832 (GRCm39) nonsense probably null
IGL02216:Fhl2 APN 1 43,170,879 (GRCm39) missense probably null 0.84
IGL02800:Fhl2 APN 1 43,167,562 (GRCm39) missense probably benign 0.28
IGL03330:Fhl2 APN 1 43,192,351 (GRCm39) missense probably damaging 1.00
IGL02799:Fhl2 UTSW 1 43,167,562 (GRCm39) missense probably benign 0.28
IGL02802:Fhl2 UTSW 1 43,162,761 (GRCm39) nonsense probably null
R0103:Fhl2 UTSW 1 43,192,381 (GRCm39) missense probably benign 0.00
R0103:Fhl2 UTSW 1 43,192,381 (GRCm39) missense probably benign 0.00
R0938:Fhl2 UTSW 1 43,180,866 (GRCm39) missense possibly damaging 0.83
R6459:Fhl2 UTSW 1 43,162,813 (GRCm39) missense possibly damaging 0.85
R6676:Fhl2 UTSW 1 43,170,970 (GRCm39) missense possibly damaging 0.83
R7048:Fhl2 UTSW 1 43,162,808 (GRCm39) missense probably damaging 1.00
R7143:Fhl2 UTSW 1 43,181,011 (GRCm39) missense probably damaging 1.00
R7853:Fhl2 UTSW 1 43,180,984 (GRCm39) missense probably damaging 0.96
R8695:Fhl2 UTSW 1 43,167,571 (GRCm39) missense probably damaging 0.97
R8774:Fhl2 UTSW 1 43,162,751 (GRCm39) missense probably damaging 0.98
R8774-TAIL:Fhl2 UTSW 1 43,162,751 (GRCm39) missense probably damaging 0.98
R9250:Fhl2 UTSW 1 43,167,422 (GRCm39) missense probably damaging 1.00
R9616:Fhl2 UTSW 1 43,167,546 (GRCm39) missense probably damaging 1.00
X0019:Fhl2 UTSW 1 43,167,569 (GRCm39) missense possibly damaging 0.73
X0021:Fhl2 UTSW 1 43,192,303 (GRCm39) missense probably benign
X0028:Fhl2 UTSW 1 43,167,460 (GRCm39) missense probably benign 0.09
Posted On 2015-04-16