Incidental Mutation 'R8227:Foxr1'
ID 637027
Institutional Source Beutler Lab
Gene Symbol Foxr1
Ensembl Gene ENSMUSG00000074397
Gene Name forkhead box R1
Synonyms Foxn5, LOC382074
MMRRC Submission 067644-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8227 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 44345531-44352165 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44347304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 78 (S78G)
Ref Sequence ENSEMBL: ENSMUSP00000096436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098837]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098837
AA Change: S78G

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000096436
Gene: ENSMUSG00000074397
AA Change: S78G

DomainStartEndE-ValueType
low complexity region 119 130 N/A INTRINSIC
Blast:FH 147 183 1e-16 BLAST
SCOP:d1d5va_ 149 182 2e-8 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix proteins with a core DNA-binding domain of approximately 110 aa. Many FOX transcription factors play roles in determining cell fates during early development. This forkhead box protein lacks the C-terminal basic region found in many other FOX family members. It is located within the 11q23.3 region which is commonly deleted in neuroblastomas. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 C A 7: 28,316,073 (GRCm39) S171I probably damaging Het
Arhgap24 A G 5: 103,023,647 (GRCm39) E227G probably benign Het
Atp13a4 A G 16: 29,222,663 (GRCm39) V1087A Het
Csnk1g2 G A 10: 80,474,463 (GRCm39) probably null Het
Dlc1 A G 8: 37,039,825 (GRCm39) L994S probably damaging Het
Dusp13b A G 14: 21,792,869 (GRCm39) S19P probably benign Het
Gm1968 T A 16: 29,777,380 (GRCm39) K93N noncoding transcript Het
Gm4781 G A 10: 100,232,424 (GRCm39) P171S noncoding transcript Het
Gm7276 T A 18: 77,273,158 (GRCm39) Q192L unknown Het
Greb1l T A 18: 10,515,371 (GRCm39) L721H probably damaging Het
Grm3 T C 5: 9,620,242 (GRCm39) D334G possibly damaging Het
Lama3 C T 18: 12,540,608 (GRCm39) A304V probably benign Het
Lamc1 G A 1: 153,099,500 (GRCm39) S1491L probably benign Het
Lepr T C 4: 101,628,559 (GRCm39) S555P probably damaging Het
Mup14 C T 4: 61,258,494 (GRCm39) E97K probably benign Het
Pdss2 A T 10: 43,221,577 (GRCm39) H163L probably damaging Het
Rps16 T A 7: 28,051,926 (GRCm39) D101E probably benign Het
Rpusd4 T C 9: 35,179,831 (GRCm39) V108A probably benign Het
Slc7a14 T C 3: 31,263,361 (GRCm39) K727R probably benign Het
Snx6 A T 12: 54,798,756 (GRCm39) F351I possibly damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Togaram2 T A 17: 72,021,237 (GRCm39) Y675* probably null Het
Other mutations in Foxr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R8313:Foxr1 UTSW 9 44,347,351 (GRCm39) missense probably damaging 1.00
R9563:Foxr1 UTSW 9 44,352,199 (GRCm39) start gained probably benign
X0026:Foxr1 UTSW 9 44,346,535 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTTATTGGCCCTCAGAAACCCAG -3'
(R):5'- AAGTAGTGAGTTCTGTGGACCG -3'

Sequencing Primer
(F):5'- TCAGAAACCCAGCTGCTG -3'
(R):5'- AGTTCTGTGGACCGGTTCCC -3'
Posted On 2020-07-13