Incidental Mutation 'R4635:Ferd3l'
ID 349452
Institutional Source Beutler Lab
Gene Symbol Ferd3l
Ensembl Gene ENSMUSG00000046518
Gene Name Fer3 like bHLH transcription factor
Synonyms Nato3, bHLHa31, N-twist, fer3, Mnato3
MMRRC Submission 041899-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.333) question?
Stock # R4635 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 33978424-33979309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33978835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 116 (M116T)
Ref Sequence ENSEMBL: ENSMUSP00000058994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061035]
AlphaFold Q923Z4
Predicted Effect probably damaging
Transcript: ENSMUST00000061035
AA Change: M116T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058994
Gene: ENSMUSG00000046518
AA Change: M116T

DomainStartEndE-ValueType
low complexity region 63 86 N/A INTRINSIC
HLH 109 161 1.19e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222601
Meta Mutation Damage Score 0.7001 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (39/40)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired caudal neural tube floor plate neuron maturation and reduced mesencephalic dopaminergic neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,764,927 (GRCm39) K639I probably benign Het
Amer3 C A 1: 34,626,958 (GRCm39) T399K probably damaging Het
Arfgef3 T C 10: 18,510,603 (GRCm39) Y786C probably damaging Het
Arhgef26 A G 3: 62,247,861 (GRCm39) Y315C probably damaging Het
Ccdc121 G A 5: 31,645,435 (GRCm39) R396Q probably benign Het
Chchd6 T C 6: 89,444,448 (GRCm39) E178G probably damaging Het
Chd3 TGCTGCCGCTGCCGC TGCTGCCGCTGCCGCTGCCGC 11: 69,253,013 (GRCm39) probably benign Het
Daam1 T A 12: 72,005,518 (GRCm39) probably null Het
Ddx60 A G 8: 62,490,101 (GRCm39) E1690G probably benign Het
Eme2 G T 17: 25,113,882 (GRCm39) P48T probably benign Het
Gm13141 GGTTTCTTGATGCCA G 4: 147,612,561 (GRCm39) noncoding transcript Het
Gtf2i T C 5: 134,274,028 (GRCm39) N727D probably damaging Het
Hao1 T A 2: 134,365,072 (GRCm39) N185I probably damaging Het
Kifap3 C T 1: 163,642,004 (GRCm39) T195I probably damaging Het
Mag A G 7: 30,606,348 (GRCm39) F363S probably damaging Het
Mef2a A G 7: 66,890,175 (GRCm39) I135T possibly damaging Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Nphs1 T C 7: 30,167,432 (GRCm39) F787L probably benign Het
Nr1h2 A C 7: 44,201,961 (GRCm39) S42A probably benign Het
Odad4 C T 11: 100,442,333 (GRCm39) Q164* probably null Het
Or10ag2 T A 2: 87,249,043 (GRCm39) M217K probably benign Het
Or4a76 A C 2: 89,460,516 (GRCm39) I242S possibly damaging Het
Or51aa2 T C 7: 103,188,355 (GRCm39) I29V probably benign Het
Or5ak23 T A 2: 85,245,208 (GRCm39) N5I probably damaging Het
Rab38 T C 7: 88,099,854 (GRCm39) V123A probably damaging Het
Scd1 T C 19: 44,395,024 (GRCm39) Y67C probably damaging Het
Scn5a T C 9: 119,358,051 (GRCm39) N730S possibly damaging Het
Shc2 C T 10: 79,462,120 (GRCm39) C341Y probably benign Het
Tfdp2 T A 9: 96,179,727 (GRCm39) N113K probably damaging Het
Tmc3 A G 7: 83,234,290 (GRCm39) probably benign Het
Top6bl A G 19: 4,748,524 (GRCm39) probably benign Het
Tox A T 4: 6,990,501 (GRCm39) probably benign Het
Tspoap1 A G 11: 87,668,683 (GRCm39) K1319E probably benign Het
Vit G A 17: 78,881,641 (GRCm39) V135I probably benign Het
Vwa5b1 T G 4: 138,338,150 (GRCm39) S71R possibly damaging Het
Other mutations in Ferd3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1695:Ferd3l UTSW 12 33,978,971 (GRCm39) missense probably benign 0.28
R2902:Ferd3l UTSW 12 33,978,952 (GRCm39) missense probably damaging 1.00
R3708:Ferd3l UTSW 12 33,978,748 (GRCm39) missense probably benign 0.00
R6833:Ferd3l UTSW 12 33,978,537 (GRCm39) missense probably damaging 1.00
R6860:Ferd3l UTSW 12 33,978,651 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CGCAGTTTGATGAAAGATATCAGG -3'
(R):5'- CGAGTGGGGAGTTTACCATC -3'

Sequencing Primer
(F):5'- TATCAGGAAGTAGAGGGGGAC -3'
(R):5'- GTGGGGAGTTTACCATCTCAAACC -3'
Posted On 2015-10-08