Incidental Mutation 'IGL01941:Fhl2'
ID 181142
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 # IGL01941
Quality Score
Status
Chromosome 1
Chromosomal Location 43123074-43196984 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 43131672 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 161 (Q161*)
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: Q161*
SMART Domains Protein: ENSMUSP00000008280
Gene: ENSMUSG00000008136
AA Change: Q161*

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: Q161*
SMART Domains Protein: ENSMUSP00000141170
Gene: ENSMUSG00000008136
AA Change: Q161*

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,044,801 L123Q probably benign Het
Abca2 C T 2: 25,443,095 S1602F probably benign Het
Abcc9 C A 6: 142,605,904 C1191F probably damaging Het
Adam3 G T 8: 24,681,446 probably benign Het
Aldh1l1 G T 6: 90,562,695 G202V probably damaging Het
Ankrd46 T C 15: 36,485,937 N57D possibly damaging Het
Asic1 A T 15: 99,699,101 H548L possibly damaging Het
Atpaf2 A G 11: 60,403,898 I233T probably benign Het
Ccdc129 A G 6: 55,968,045 R584G probably benign Het
Ccdc185 G T 1: 182,748,204 Q307K probably benign Het
Cep120 T C 18: 53,723,148 D399G probably benign Het
Cnn2 G A 10: 79,992,554 V122M probably benign Het
Dgkd T C 1: 87,924,559 S472P probably damaging Het
Dock5 A C 14: 67,812,232 I701S probably damaging Het
Efl1 A G 7: 82,697,976 E570G probably benign Het
Eln G A 5: 134,718,170 probably benign Het
Fat2 A G 11: 55,312,005 V81A probably benign Het
Fbxw21 T G 9: 109,148,156 I162L probably benign Het
Gabrg2 A G 11: 41,971,721 Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm7714 A G 5: 88,282,442 S66G probably benign Het
Grik5 A T 7: 25,065,182 I152N probably damaging Het
H2-Ab1 A T 17: 34,267,434 K156* probably null Het
Hecw1 T C 13: 14,316,310 Y699C probably benign Het
Ipo9 A C 1: 135,408,073 V202G possibly damaging Het
Jmjd6 A T 11: 116,841,358 probably null Het
Lama5 A G 2: 180,192,392 I1416T possibly damaging Het
Matn1 T C 4: 130,952,261 probably benign Het
Mavs T C 2: 131,246,605 V443A probably damaging Het
Mpdz A T 4: 81,286,387 S1798R possibly damaging Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Olfr1251 A T 2: 89,667,468 C139* probably null Het
Otud7b G T 3: 96,155,459 G672C probably benign Het
Palld T A 8: 61,535,700 T572S probably benign Het
Pde6b T A 5: 108,423,036 V379E probably benign Het
Peak1 A G 9: 56,258,775 V623A probably damaging Het
Prr12 C T 7: 45,048,659 probably benign Het
Rxra T C 2: 27,754,241 I315T probably damaging Het
Slc11a1 C T 1: 74,377,179 A55V probably damaging Het
Slitrk3 T C 3: 73,051,071 N123D possibly damaging Het
Spcs1 A G 14: 31,000,872 M82T probably damaging Het
Sspo A G 6: 48,495,182 E113G probably benign Het
Syne2 A G 12: 75,967,220 K3062E probably benign Het
Traf3ip2 T C 10: 39,634,660 S310P probably benign Het
Ubp1 T C 9: 113,956,758 L167S probably damaging Het
Vmn1r196 T A 13: 22,293,699 C169* probably null Het
Vmn1r223 T A 13: 23,250,237 F334I possibly damaging Het
Vmn2r10 A T 5: 108,995,954 I710N probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr26 A G 1: 181,211,070 probably benign Het
Wnt7a A G 6: 91,394,663 F106L probably benign Het
Zfp940 C T 7: 29,846,870 V34M probably damaging Het
Other mutations in Fhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Fhl2 APN 1 43131681 missense probably benign 0.37
IGL02216:Fhl2 APN 1 43131719 missense probably null 0.84
IGL02335:Fhl2 APN 1 43128390 nonsense probably null
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
R8695:Fhl2 UTSW 1 43128411 missense probably damaging 0.97
R8774:Fhl2 UTSW 1 43123591 missense probably damaging 0.98
R8774-TAIL:Fhl2 UTSW 1 43123591 missense probably damaging 0.98
R9250:Fhl2 UTSW 1 43128262 missense probably damaging 1.00
R9616:Fhl2 UTSW 1 43128386 missense probably damaging 1.00
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 On 2014-05-07