Incidental Mutation 'R2960:Rfx8'
ID 255867
Institutional Source Beutler Lab
Gene Symbol Rfx8
Ensembl Gene ENSMUSG00000057173
Gene Name regulatory factor X 8
Synonyms 4933400N17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2960 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 39704459-39760149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39722112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 291 (V291A)
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 damaging
Transcript: ENSMUST00000151913
AA Change: V291A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: V291A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5c A G 11: 97,885,902 (GRCm39) L33P probably damaging Het
Auh A T 13: 52,993,610 (GRCm39) I268N probably damaging Het
Cimap2 A G 4: 106,470,615 (GRCm39) S186P probably damaging Het
Defa25 A T 8: 21,575,273 (GRCm39) H84L probably benign Het
Endou T C 15: 97,611,687 (GRCm39) Y317C probably damaging Het
Fmn2 C T 1: 174,437,385 (GRCm39) L1119F probably damaging Het
Glyat T A 19: 12,617,214 (GRCm39) L22H probably damaging Het
Gpd2 C T 2: 57,228,987 (GRCm39) R264* probably null Het
Grb7 C T 11: 98,343,087 (GRCm39) T268I probably damaging Het
Ints15 A T 5: 143,293,776 (GRCm39) F234I probably benign Het
Itfg2 G A 6: 128,390,515 (GRCm39) A190V probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Mdga2 G T 12: 66,676,752 (GRCm39) Y513* probably null Het
Med8 A G 4: 118,271,944 (GRCm39) T222A probably damaging Het
Nup43 T C 10: 7,546,713 (GRCm39) V111A probably benign Het
Or9s14 A G 1: 92,536,050 (GRCm39) I164V probably benign Het
Rfx3 G A 19: 27,878,211 (GRCm39) Q29* probably null Het
Scnn1a A G 6: 125,299,256 (GRCm39) Y112C probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tmx3 T C 18: 90,551,116 (GRCm39) V252A probably damaging Het
Vmn1r216 A G 13: 23,284,103 (GRCm39) D262G probably benign Het
Vmn1r9 A G 6: 57,048,657 (GRCm39) D244G possibly damaging Het
Xkr6 T A 14: 63,844,586 (GRCm39) M203K possibly damaging Het
Zfr G A 15: 12,162,319 (GRCm39) R823H 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
R4554:Rfx8 UTSW 1 39,720,100 (GRCm39) missense probably benign 0.00
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'- TTGCACCATGGGTTCTCCTG -3'
(R):5'- TAGGATTCTACAAGTCTCTGCCAC -3'

Sequencing Primer
(F):5'- ACCATGGGTTCTCCTGTCTGC -3'
(R):5'- CACAGGCTTAGATTGGGCATGC -3'
Posted On 2014-12-29