Incidental Mutation 'R2402:Fhl3'
ID 248734
Institutional Source Beutler Lab
Gene Symbol Fhl3
Ensembl Gene ENSMUSG00000032643
Gene Name four and a half LIM domains 3
Synonyms
MMRRC Submission 040368-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R2402 (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 C at 124599481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 19 (Y19H)
Ref Sequence ENSEMBL: ENSMUSP00000121702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038684] [ENSMUST00000106199] [ENSMUST00000145942]
AlphaFold Q9R059
Predicted Effect probably damaging
Transcript: ENSMUST00000038684
AA Change: Y19H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040150
Gene: ENSMUSG00000032643
AA Change: Y19H

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 damaging
Transcript: ENSMUST00000106199
AA Change: Y19H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101805
Gene: ENSMUSG00000032643
AA Change: Y19H

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 damaging
Transcript: ENSMUST00000145942
AA Change: Y19H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121702
Gene: ENSMUSG00000032643
AA Change: Y19H

DomainStartEndE-ValueType
Blast:LIM 1 31 5e-6 BLAST
LIM 39 92 2.7e-11 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.6%
  • 20x: 92.5%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T A 8: 87,235,770 (GRCm39) D1199V probably damaging Het
Abcc6 A T 7: 45,664,999 (GRCm39) S277R probably benign Het
Acvrl1 A G 15: 101,035,280 (GRCm39) S269G probably damaging Het
Akap10 T C 11: 61,806,048 (GRCm39) S227G probably benign Het
Angptl8 T C 9: 21,747,112 (GRCm39) probably null Het
Arsi T C 18: 61,049,539 (GRCm39) S141P possibly damaging Het
Atic T A 1: 71,608,216 (GRCm39) Y303* probably null Het
Bbs9 C T 9: 22,557,359 (GRCm39) P510L probably benign Het
Bcl2a1b A G 9: 89,081,795 (GRCm39) N128S probably benign Het
Bcl2a1d A T 9: 88,613,549 (GRCm39) M75K probably damaging Het
Carm1 T A 9: 21,494,836 (GRCm39) L324Q probably damaging Het
Caskin1 T A 17: 24,722,782 (GRCm39) L550Q probably damaging Het
Cd302 A G 2: 60,087,412 (GRCm39) I142T probably benign Het
Cep350 A T 1: 155,738,882 (GRCm39) D2320E probably benign Het
Cgnl1 A G 9: 71,632,461 (GRCm39) S297P probably damaging Het
Cr1l T A 1: 194,789,210 (GRCm39) Y398F probably benign Het
Ctsa A T 2: 164,676,813 (GRCm39) D145V probably benign Het
Ctsj C T 13: 61,148,388 (GRCm39) G303D probably damaging Het
Dnah17 T C 11: 118,016,800 (GRCm39) I250M probably benign Het
Doc2a C A 7: 126,447,919 (GRCm39) C54* probably null Het
Dpy19l2 T C 9: 24,492,544 (GRCm39) T685A probably damaging Het
Dtna T A 18: 23,728,535 (GRCm39) C243* probably null Het
Exoc3l4 A G 12: 111,388,690 (GRCm39) T60A possibly damaging Het
Exph5 C A 9: 53,286,225 (GRCm39) S1102* probably null Het
Flt4 A G 11: 49,528,646 (GRCm39) E1012G possibly damaging Het
Flvcr2 A G 12: 85,829,777 (GRCm39) N262S probably benign Het
Gon4l G T 3: 88,766,350 (GRCm39) C463F probably damaging Het
H2-T10 A T 17: 36,428,631 (GRCm39) probably null Het
Heatr3 T C 8: 88,871,200 (GRCm39) C185R probably benign Het
Hectd1 A G 12: 51,792,317 (GRCm39) V2474A probably benign Het
Htr3a C T 9: 48,812,795 (GRCm39) E215K probably damaging Het
Ica1l T C 1: 60,045,451 (GRCm39) T271A probably benign Het
Klra2 A G 6: 131,220,864 (GRCm39) I66T probably benign Het
Neto2 T C 8: 86,417,541 (GRCm39) K21R probably benign Het
Niban1 A G 1: 151,565,365 (GRCm39) T232A probably benign Het
Nisch T A 14: 30,906,971 (GRCm39) probably benign Het
Nr4a1 G T 15: 101,169,618 (GRCm39) R296L probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or7g19 T A 9: 18,856,496 (GRCm39) I184N probably damaging Het
Or8b50 T C 9: 38,518,397 (GRCm39) V212A probably benign Het
Pcsk5 A T 19: 17,452,198 (GRCm39) C1102* probably null Het
Phip C T 9: 82,757,358 (GRCm39) A1605T probably benign Het
Pstpip2 T A 18: 77,942,564 (GRCm39) M105K possibly damaging Het
Qprt C T 7: 126,707,532 (GRCm39) V219I probably benign Het
Ralgapa2 A T 2: 146,195,112 (GRCm39) N1271K probably damaging Het
Reg3g A T 6: 78,444,475 (GRCm39) L106H probably damaging Het
Rhobtb1 G A 10: 69,106,254 (GRCm39) G273D probably benign Het
Rimbp2 T C 5: 128,861,952 (GRCm39) D771G probably damaging Het
Sos2 T C 12: 69,643,573 (GRCm39) I935V possibly damaging Het
Tcf12 A T 9: 71,763,792 (GRCm39) N397K probably damaging Het
Tgtp2 T C 11: 48,949,957 (GRCm39) Q205R probably benign Het
Tle5 T A 10: 81,400,712 (GRCm39) C89S possibly damaging Het
Tubb2b T C 13: 34,312,209 (GRCm39) N195D probably benign Het
Unc13b A G 4: 43,095,843 (GRCm39) T84A probably benign Het
Usb1 T A 8: 96,069,759 (GRCm39) F102L probably benign Het
Vmn2r61 A G 7: 41,949,529 (GRCm39) T650A possibly damaging Het
Zbtb41 A C 1: 139,350,923 (GRCm39) D12A probably benign Het
Zbtb41 G T 1: 139,350,925 (GRCm39) E13* probably null Het
Zfp821 C T 8: 110,447,872 (GRCm39) S71F 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
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'- ACATGCTCTGACCTGGCATC -3'
(R):5'- CTCATAGAACAGTTCCTTCGGG -3'

Sequencing Primer
(F):5'- ATGCTCTGACCTGGCATCTTCTATG -3'
(R):5'- AACAGTTCCTTCGGGGAGAC -3'
Posted On 2014-11-11