Incidental Mutation 'R4554:Rfx8'
ID 341799
Institutional Source Beutler Lab
Gene Symbol Rfx8
Ensembl Gene ENSMUSG00000057173
Gene Name regulatory factor X 8
Synonyms 4933400N17Rik
MMRRC Submission 041596-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4554 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 39704459-39760149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 39720100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 325 (R325H)
Ref Sequence ENSEMBL: ENSMUSP00000121212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151913]
AlphaFold D3YU81
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126760
Predicted Effect probably benign
Transcript: ENSMUST00000151913
AA Change: R325H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: R325H

DomainStartEndE-ValueType
Pfam:RFX_DNA_binding 17 94 6.5e-31 PFAM
Blast:DEXDc 301 358 4e-8 BLAST
low complexity region 445 467 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 C T 3: 121,949,992 (GRCm39) A1772V possibly damaging Het
Adamts17 A T 7: 66,677,641 (GRCm39) E518D probably damaging Het
Adgrb3 T C 1: 25,123,360 (GRCm39) R1414G probably damaging Het
Ahnak G A 19: 8,992,294 (GRCm39) G4526D probably damaging Het
Alms1 G A 6: 85,601,599 (GRCm39) R2150H probably benign Het
Amh A T 10: 80,642,885 (GRCm39) E356D probably benign Het
Cap2 T A 13: 46,789,250 (GRCm39) F152I probably damaging Het
Chil3 T G 3: 106,067,686 (GRCm39) K160Q probably benign Het
Ep300 T A 15: 81,485,631 (GRCm39) M206K unknown Het
Lsamp G C 16: 41,964,438 (GRCm39) D271H probably damaging Het
Marf1 T C 16: 13,971,841 (GRCm39) probably benign Het
Mfsd11 T G 11: 116,752,406 (GRCm39) V133G probably damaging Het
Ngrn C T 7: 79,914,449 (GRCm39) T200I possibly damaging Het
Or8k37 T A 2: 86,469,123 (GRCm39) N310Y possibly damaging Het
Phf20l1 A G 15: 66,469,216 (GRCm39) T117A probably damaging Het
Pitpnm1 A G 19: 4,153,085 (GRCm39) Q135R probably benign Het
Poc5 A G 13: 96,539,529 (GRCm39) K357E probably benign Het
Rhbdd3 C T 11: 5,055,946 (GRCm39) P366L probably benign Het
Rtl1 T C 12: 109,560,762 (GRCm39) N359S possibly damaging Het
Ryr1 T C 7: 28,804,433 (GRCm39) T499A probably benign Het
Tex2 G T 11: 106,435,212 (GRCm39) P738H unknown Het
Thap12 A G 7: 98,365,052 (GRCm39) N407D probably benign Het
Tmc5 T C 7: 118,269,956 (GRCm39) I902T probably benign Het
Top6bl T C 19: 4,699,847 (GRCm39) Q452R possibly damaging Het
Zswim9 T C 7: 13,011,088 (GRCm39) N87D probably benign Het
Other mutations in Rfx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Rfx8 APN 1 39,722,110 (GRCm39) nonsense probably null
IGL01659:Rfx8 APN 1 39,709,733 (GRCm39) missense probably damaging 1.00
IGL02239:Rfx8 APN 1 39,720,046 (GRCm39) missense probably benign 0.00
IGL02302:Rfx8 APN 1 39,704,682 (GRCm39) missense possibly damaging 0.50
IGL02332:Rfx8 APN 1 39,757,640 (GRCm39) missense possibly damaging 0.89
IGL02598:Rfx8 APN 1 39,735,128 (GRCm39) splice site probably benign
IGL02870:Rfx8 APN 1 39,722,871 (GRCm39) missense possibly damaging 0.94
IGL03403:Rfx8 APN 1 39,729,333 (GRCm39) missense possibly damaging 0.94
PIT4515001:Rfx8 UTSW 1 39,729,265 (GRCm39) missense probably benign 0.04
R0060:Rfx8 UTSW 1 39,757,565 (GRCm39) splice site probably benign
R0095:Rfx8 UTSW 1 39,724,696 (GRCm39) missense possibly damaging 0.58
R0265:Rfx8 UTSW 1 39,727,737 (GRCm39) missense possibly damaging 0.67
R1892:Rfx8 UTSW 1 39,709,746 (GRCm39) splice site probably null
R2054:Rfx8 UTSW 1 39,724,719 (GRCm39) missense possibly damaging 0.92
R2960:Rfx8 UTSW 1 39,722,112 (GRCm39) missense probably damaging 1.00
R5410:Rfx8 UTSW 1 39,749,316 (GRCm39) critical splice donor site probably null
R5496:Rfx8 UTSW 1 39,709,507 (GRCm39) missense probably benign 0.01
R5502:Rfx8 UTSW 1 39,722,113 (GRCm39) missense probably damaging 1.00
R5916:Rfx8 UTSW 1 39,727,779 (GRCm39) missense probably benign 0.20
R6238:Rfx8 UTSW 1 39,709,554 (GRCm39) missense probably damaging 0.96
R6360:Rfx8 UTSW 1 39,720,125 (GRCm39) missense probably benign
R7593:Rfx8 UTSW 1 39,722,838 (GRCm39) missense probably damaging 1.00
R7738:Rfx8 UTSW 1 39,722,091 (GRCm39) missense probably damaging 1.00
R8378:Rfx8 UTSW 1 39,709,581 (GRCm39) missense probably damaging 0.98
R8753:Rfx8 UTSW 1 39,757,600 (GRCm39) missense probably damaging 1.00
R9439:Rfx8 UTSW 1 39,724,669 (GRCm39) missense probably benign 0.01
R9444:Rfx8 UTSW 1 39,709,476 (GRCm39) missense probably damaging 0.96
R9498:Rfx8 UTSW 1 39,724,674 (GRCm39) missense probably damaging 1.00
R9649:Rfx8 UTSW 1 39,722,850 (GRCm39) missense probably damaging 1.00
R9656:Rfx8 UTSW 1 39,709,679 (GRCm39) missense probably benign 0.00
T0722:Rfx8 UTSW 1 39,722,772 (GRCm39) missense probably damaging 1.00
Z1088:Rfx8 UTSW 1 39,722,126 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- CTCTACAGGAAGACAAGTGTGAGC -3'
(R):5'- TTGAGATCGGATGTCAGTGCC -3'

Sequencing Primer
(F):5'- TGTGAGCACCTTCAACTAGG -3'
(R):5'- ATCGGATGTCAGTGCCCACAG -3'
Posted On 2015-09-24