Incidental Mutation 'R0592:Fhl3'
ID 56017
Institutional Source Beutler Lab
Gene Symbol Fhl3
Ensembl Gene ENSMUSG00000032643
Gene Name four and a half LIM domains 3
Synonyms
MMRRC Submission 038782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R0592 (G1)
Quality Score 126
Status Validated
Chromosome 4
Chromosomal Location 124594494-124602404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124599470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 15 (Y15C)
Ref Sequence ENSEMBL: ENSMUSP00000101805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038684] [ENSMUST00000106199] [ENSMUST00000145942]
AlphaFold Q9R059
Predicted Effect probably benign
Transcript: ENSMUST00000038684
AA Change: Y15C

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000040150
Gene: ENSMUSG00000032643
AA Change: Y15C

DomainStartEndE-ValueType
LIM 39 92 2.7e-11 SMART
LIM 100 153 1.67e-16 SMART
LIM 161 212 4.48e-17 SMART
LIM 220 284 2.91e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106199
AA Change: Y15C

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101805
Gene: ENSMUSG00000032643
AA Change: Y15C

DomainStartEndE-ValueType
LIM 39 92 2.7e-11 SMART
LIM 100 153 1.67e-16 SMART
LIM 161 212 4.48e-17 SMART
LIM 220 275 8.49e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145942
AA Change: Y15C

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000121702
Gene: ENSMUSG00000032643
AA Change: Y15C

DomainStartEndE-ValueType
Blast:LIM 1 31 5e-6 BLAST
LIM 39 92 2.7e-11 SMART
Meta Mutation Damage Score 0.1045 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (35/35)
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 a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg2a GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC 19: 6,295,037 (GRCm39) probably benign Het
Bbs7 A T 3: 36,664,446 (GRCm39) V53D probably benign Het
Bglap T A 3: 88,290,962 (GRCm39) I90F probably benign Het
C2cd4b G A 9: 67,667,973 (GRCm39) R323H probably damaging Het
Cdh5 T A 8: 104,857,534 (GRCm39) probably null Het
Cdh8 T A 8: 100,006,110 (GRCm39) D159V probably damaging Het
Dnah7a A G 1: 53,495,771 (GRCm39) Y3229H possibly damaging Het
Dzip1 T C 14: 119,139,551 (GRCm39) E381G probably damaging Het
Elmod1 A G 9: 53,833,390 (GRCm39) probably benign Het
Exosc10 T C 4: 148,665,570 (GRCm39) S811P probably benign Het
Gstz1 G A 12: 87,210,495 (GRCm39) S126N probably benign Het
Hey2 C A 10: 30,709,953 (GRCm39) A267S probably benign Het
Iqce A T 5: 140,671,862 (GRCm39) probably null Het
Katnal2 A T 18: 77,090,256 (GRCm39) probably null Het
Kdm2b G A 5: 123,099,197 (GRCm39) probably benign Het
Mov10l1 A G 15: 88,882,969 (GRCm39) probably null Het
Numa1 A G 7: 101,663,104 (GRCm39) T724A probably benign Het
Oas3 A G 5: 120,909,214 (GRCm39) F244S probably damaging Het
Or2d2 G A 7: 106,728,550 (GRCm39) L17F probably benign Het
Or5b117 T C 19: 13,431,069 (GRCm39) I271V probably benign Het
Rab37 T G 11: 115,051,349 (GRCm39) probably benign Het
Riox2 T C 16: 59,309,942 (GRCm39) probably benign Het
Ryr3 A G 2: 112,508,826 (GRCm39) S3358P probably damaging Het
Sash1 T A 10: 8,605,546 (GRCm39) H948L probably benign Het
Serpinb6e T A 13: 34,025,057 (GRCm39) N78I probably damaging Het
Slc25a47 G A 12: 108,820,184 (GRCm39) V63M probably damaging Het
Slc9b1 A T 3: 135,099,835 (GRCm39) probably benign Het
Strip2 T A 6: 29,931,209 (GRCm39) S387T probably benign Het
Tcaf3 T C 6: 42,573,777 (GRCm39) N145S probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Trmu T C 15: 85,781,027 (GRCm39) probably benign Het
Vezf1 A T 11: 88,068,435 (GRCm38) probably benign Het
Vmn2r116 C T 17: 23,605,889 (GRCm39) T267I probably damaging Het
Whrn C A 4: 63,333,804 (GRCm39) A450S probably damaging Het
Ypel1 A G 16: 16,925,083 (GRCm39) S30P probably benign Het
Other mutations in Fhl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1118:Fhl3 UTSW 4 124,599,584 (GRCm39) critical splice donor site probably null
R2402:Fhl3 UTSW 4 124,599,481 (GRCm39) missense probably damaging 1.00
R2921:Fhl3 UTSW 4 124,599,463 (GRCm39) missense probably damaging 1.00
R2923:Fhl3 UTSW 4 124,599,463 (GRCm39) missense probably damaging 1.00
R4583:Fhl3 UTSW 4 124,601,342 (GRCm39) missense probably benign 0.41
R5147:Fhl3 UTSW 4 124,601,724 (GRCm39) missense probably benign 0.01
R5460:Fhl3 UTSW 4 124,599,796 (GRCm39) missense probably damaging 1.00
R5932:Fhl3 UTSW 4 124,599,520 (GRCm39) missense probably damaging 1.00
R6855:Fhl3 UTSW 4 124,601,315 (GRCm39) missense probably benign 0.00
R9267:Fhl3 UTSW 4 124,601,498 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGGAAGATTCGAGCATACATGGAGC -3'
(R):5'- TGGAAGTGGCGGTCCTCATAGAAC -3'

Sequencing Primer
(F):5'- CGAGCATACATGGAGCCTACTG -3'
(R):5'- GCGGTCCTCATAGAACAGTTCC -3'
Posted On 2013-07-11