Incidental Mutation 'R6833:Ferd3l'
ID 534455
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 044942-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.333) question?
Stock # R6833 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 33978424-33979309 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33978537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 17 (V17I)
Ref Sequence ENSEMBL: ENSMUSP00000058994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061035]
AlphaFold Q923Z4
Predicted Effect probably damaging
Transcript: ENSMUST00000061035
AA Change: V17I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000058994
Gene: ENSMUSG00000046518
AA Change: V17I

DomainStartEndE-ValueType
low complexity region 63 86 N/A INTRINSIC
HLH 109 161 1.19e-16 SMART
Meta Mutation Damage Score 0.0982 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 96% (54/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,658,733 (GRCm39) W215R probably damaging Het
Aco1 A G 4: 40,164,747 (GRCm39) K79R probably benign Het
Adam28 C T 14: 68,855,576 (GRCm39) A630T probably benign Het
Alpk2 T C 18: 65,439,480 (GRCm39) K1105E probably benign Het
Angptl1 A T 1: 156,672,263 (GRCm39) I30L probably benign Het
Astn1 A T 1: 158,491,692 (GRCm39) Q47L probably benign Het
Atf6b T C 17: 34,868,131 (GRCm39) S135P probably damaging Het
Ccdc122 G T 14: 77,326,371 (GRCm39) probably benign Het
Cers3 T C 7: 66,429,419 (GRCm39) probably null Het
Dcaf10 T C 4: 45,373,043 (GRCm39) C95R probably damaging Het
Dcxr A G 11: 120,616,917 (GRCm39) Y149H probably damaging Het
Dmxl1 A T 18: 50,088,890 (GRCm39) I2790F probably damaging Het
Dnhd1 T A 7: 105,352,580 (GRCm39) C2578S probably benign Het
Dnttip2 T C 3: 122,070,452 (GRCm39) S556P probably damaging Het
Efr3a T G 15: 65,714,535 (GRCm39) V301G probably damaging Het
Eml5 A T 12: 98,853,283 (GRCm39) H105Q probably damaging Het
Enpp3 T A 10: 24,685,768 (GRCm39) H44L probably damaging Het
Fam120a A G 13: 49,087,517 (GRCm39) V281A probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Glb1l A G 1: 75,178,397 (GRCm39) V347A possibly damaging Het
Gm4846 A T 1: 166,322,147 (GRCm39) I140N possibly damaging Het
Gm9195 T C 14: 72,671,856 (GRCm39) T2586A possibly damaging Het
Hsd17b8 T C 17: 34,246,191 (GRCm39) S161G probably damaging Het
Hsp90ab1 T C 17: 45,881,393 (GRCm39) I250V probably benign Het
Il11ra1 A G 4: 41,765,454 (GRCm39) H183R probably benign Het
Lama3 G A 18: 12,624,605 (GRCm39) C1450Y probably damaging Het
Lgals7 G A 7: 28,565,087 (GRCm39) R75Q probably damaging Het
Lpcat3 A G 6: 124,676,974 (GRCm39) Y124C probably damaging Het
Lrrc8a T A 2: 30,145,659 (GRCm39) S158T possibly damaging Het
Mcm3 A T 1: 20,880,320 (GRCm39) M504K possibly damaging Het
Mro G T 18: 73,997,003 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,955,773 (GRCm39) probably null Het
Myh14 T A 7: 44,273,803 (GRCm39) K1356* probably null Het
Myo5b A C 18: 74,903,396 (GRCm39) Q1804P probably benign Het
Nol10 A G 12: 17,402,728 (GRCm39) I67V probably benign Het
Pam T A 1: 97,765,717 (GRCm39) I771F probably damaging Het
Pcdhgb8 G T 18: 37,895,142 (GRCm39) A71S probably benign Het
Pmfbp1 T C 8: 110,265,307 (GRCm39) probably null Het
Poc1b C T 10: 99,028,666 (GRCm39) A336V probably benign Het
Poglut3 A G 9: 53,303,308 (GRCm39) I67V possibly damaging Het
Prap1 C A 7: 139,674,995 (GRCm39) A20E possibly damaging Het
Prox1 G A 1: 189,892,975 (GRCm39) A490V probably damaging Het
Prss39 G T 1: 34,537,697 (GRCm39) V54F possibly damaging Het
Sema3b T A 9: 107,480,515 (GRCm39) E144V probably benign Het
Sft2d1 C T 17: 8,537,707 (GRCm39) T32I possibly damaging Het
Smpd2 C T 10: 41,364,442 (GRCm39) A160T probably damaging Het
Stard9 G T 2: 120,531,740 (GRCm39) V2666F probably damaging Het
Syt7 T A 19: 10,421,508 (GRCm39) M400K probably damaging Het
Thoc5 T C 11: 4,869,804 (GRCm39) L402P probably damaging Het
Tinf2 A T 14: 55,919,037 (GRCm39) M1K probably null Het
Ttc21a A G 9: 119,771,701 (GRCm39) I167V probably benign Het
Vldlr T C 19: 27,217,974 (GRCm39) L474P probably damaging Het
Xirp2 T C 2: 67,340,294 (GRCm39) V845A probably benign Het
Zdhhc7 A T 8: 120,811,663 (GRCm39) M180K probably damaging Het
Zfp735 G A 11: 73,601,434 (GRCm39) G126D probably 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
R4635:Ferd3l UTSW 12 33,978,835 (GRCm39) missense probably damaging 1.00
R6860:Ferd3l UTSW 12 33,978,651 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CAGTTTGGTTATAAATGTCTCCCCG -3'
(R):5'- GGCGCTGGGCATAAGTAATAAC -3'

Sequencing Primer
(F):5'- ATAAATGTCTCCCCGAGTTTGG -3'
(R):5'- AAGGATGCTACTCTGCCGC -3'
Posted On 2018-09-12