Incidental Mutation 'R5147:Fhl3'
ID 395145
Institutional Source Beutler Lab
Gene Symbol Fhl3
Ensembl Gene ENSMUSG00000032643
Gene Name four and a half LIM domains 3
Synonyms
MMRRC Submission 042731-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R5147 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 124594494-124602404 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124601724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 277 (D277E)
Ref Sequence ENSEMBL: ENSMUSP00000040150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038684] [ENSMUST00000106199] [ENSMUST00000145942]
AlphaFold Q9R059
Predicted Effect probably benign
Transcript: ENSMUST00000038684
AA Change: D277E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000040150
Gene: ENSMUSG00000032643
AA Change: D277E

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: D268E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000101805
Gene: ENSMUSG00000032643
AA Change: D268E

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
SMART Domains Protein: ENSMUSP00000121702
Gene: ENSMUSG00000032643

DomainStartEndE-ValueType
Blast:LIM 1 31 5e-6 BLAST
LIM 39 92 2.7e-11 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
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 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,851,149 (GRCm39) Y2121H probably benign Het
Adgrf2 A G 17: 43,021,574 (GRCm39) Y417H probably damaging Het
Ap5z1 A C 5: 142,452,265 (GRCm39) D66A probably benign Het
Cachd1 T A 4: 100,821,688 (GRCm39) Y422N probably damaging Het
Cfap54 C T 10: 92,773,700 (GRCm39) G114D probably benign Het
Cgref1 C T 5: 31,091,049 (GRCm39) G255E probably benign Het
Cyp2a22 A C 7: 26,635,750 (GRCm39) L271R probably damaging Het
Dcp2 G T 18: 44,550,662 (GRCm39) E379* probably null Het
Gm19684 C T 17: 36,439,411 (GRCm39) V190M probably damaging Het
Hpse T C 5: 100,867,375 (GRCm39) D29G probably benign Het
Il31 T C 5: 123,620,121 (GRCm39) probably benign Het
Ilk T C 7: 105,391,774 (GRCm39) C422R possibly damaging Het
Itga1 T G 13: 115,121,678 (GRCm39) D777A possibly damaging Het
Kank3 A G 17: 34,041,176 (GRCm39) D556G probably damaging Het
Lrit3 A G 3: 129,597,574 (GRCm39) S36P possibly damaging Het
Magi1 C T 6: 93,724,248 (GRCm39) E256K probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Mymk C T 2: 26,952,299 (GRCm39) M148I probably benign Het
Nlrp12 T A 7: 3,290,003 (GRCm39) I170F possibly damaging Het
Odad3 T C 9: 21,906,158 (GRCm39) E260G probably benign Het
Or5al7 A T 2: 85,992,378 (GRCm39) I305K possibly damaging Het
Or5an11 T A 19: 12,246,268 (GRCm39) S225T probably damaging Het
Pkd1l1 G A 11: 8,799,003 (GRCm39) T1803I possibly damaging Het
Ppp2r2b C T 18: 42,778,942 (GRCm39) V398I probably benign Het
Ppp2r5e T A 12: 75,516,544 (GRCm39) R214S probably damaging Het
Prss16 T C 13: 22,190,264 (GRCm39) D298G possibly damaging Het
Qprt G A 7: 126,707,622 (GRCm39) R189W probably damaging Het
Rara C T 11: 98,841,550 (GRCm39) S36F probably benign Het
Rasal2 A G 1: 157,003,264 (GRCm39) V465A probably damaging Het
Slc22a1 C T 17: 12,869,838 (GRCm39) G508R probably damaging Het
Slco2a1 C A 9: 102,927,468 (GRCm39) F120L probably damaging Het
Tex15 T A 8: 34,062,340 (GRCm39) L864* probably null Het
Tssk4 A G 14: 55,888,430 (GRCm39) I100V possibly damaging Het
Vgll4 A G 6: 114,867,576 (GRCm39) probably null Het
Vmn1r65 T G 7: 6,011,818 (GRCm39) I139L probably benign Het
Vps13b C T 15: 35,456,824 (GRCm39) P757S probably benign Het
Ythdc2 G A 18: 44,977,359 (GRCm39) G385E probably damaging Het
Other mutations in Fhl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0592:Fhl3 UTSW 4 124,599,470 (GRCm39) missense probably benign 0.23
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
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'- CGCAGGTAAGAGTTCGGATG -3'
(R):5'- CCACTGGGGTGTGTTAAAATTG -3'

Sequencing Primer
(F):5'- TTCGGATGTAACACGGGTGAG -3'
(R):5'- CTGAATCCTGAAGTCCCAATGAGTG -3'
Posted On 2016-06-21