Incidental Mutation 'R2054:Rfx8'
ID 226482
Institutional Source Beutler Lab
Gene Symbol Rfx8
Ensembl Gene ENSMUSG00000057173
Gene Name regulatory factor X 8
Synonyms 4933400N17Rik
MMRRC Submission 040059-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2054 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 39704459-39760149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39724719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 214 (V214A)
Ref Sequence ENSEMBL: ENSMUSP00000121212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151913]
AlphaFold D3YU81
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126760
Predicted Effect possibly damaging
Transcript: ENSMUST00000151913
AA Change: V214A

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: V214A

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
Meta Mutation Damage Score 0.1886 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,562 (GRCm39) C94S possibly damaging Het
A930011G23Rik T C 5: 99,375,914 (GRCm39) Y432C probably benign Het
Abtb2 A G 2: 103,535,462 (GRCm39) D543G probably benign Het
Adam9 A T 8: 25,481,310 (GRCm39) V318E probably damaging Het
Aim2 T C 1: 173,291,548 (GRCm39) F318L probably damaging Het
Apob A T 12: 8,063,134 (GRCm39) D3872V probably damaging Het
Atat1 T A 17: 36,212,261 (GRCm39) R323W probably null Het
Atp2b4 T C 1: 133,642,907 (GRCm39) D1066G probably benign Het
Bltp1 A G 3: 37,002,002 (GRCm39) T1316A probably benign Het
Caskin2 T C 11: 115,697,127 (GRCm39) probably benign Het
Cblif G A 19: 11,736,370 (GRCm39) V314I probably benign Het
Ccdc54 T A 16: 50,410,987 (GRCm39) N93I probably damaging Het
Ccnd1 A C 7: 144,491,128 (GRCm39) D159E possibly damaging Het
Cnot1 A C 8: 96,466,469 (GRCm39) S1589R possibly damaging Het
Copa T A 1: 171,946,524 (GRCm39) Y980* probably null Het
Defb19 A G 2: 152,418,090 (GRCm39) I82T possibly damaging Het
Elapor2 C A 5: 9,513,030 (GRCm39) T1008K possibly damaging Het
Fiz1 G A 7: 5,011,235 (GRCm39) R428C probably damaging Het
Fnip2 A T 3: 79,479,772 (GRCm39) probably benign Het
Gabrb3 G A 7: 57,474,241 (GRCm39) G408S probably benign Het
Hao1 C T 2: 134,340,178 (GRCm39) silent Het
Hecw1 T A 13: 14,471,998 (GRCm39) M557L probably damaging Het
Itch A T 2: 155,052,496 (GRCm39) I699F probably damaging Het
Kmt2a T C 9: 44,734,671 (GRCm39) probably benign Het
Leng8 T G 7: 4,147,289 (GRCm39) Y562* probably null Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrp1b A T 2: 40,587,494 (GRCm39) N151K unknown Het
Lrrc71 T C 3: 87,649,980 (GRCm39) E316G probably damaging Het
Mgat5 A G 1: 127,325,344 (GRCm39) N404D probably damaging Het
Mrps26 C A 2: 130,406,087 (GRCm39) T100K probably benign Het
Mtor A G 4: 148,547,309 (GRCm39) T431A probably benign Het
Mtor T A 4: 148,550,482 (GRCm39) C713S probably benign Het
Mug2 A G 6: 122,054,451 (GRCm39) K1077E probably damaging Het
Nbas A G 12: 13,524,207 (GRCm39) T1688A probably benign Het
Nek2 T C 1: 191,553,764 (GRCm39) S3P possibly damaging Het
Nell2 T C 15: 95,332,990 (GRCm39) T190A probably benign Het
Npr2 A T 4: 43,646,560 (GRCm39) N636I probably damaging Het
Orc3 A T 4: 34,584,846 (GRCm39) I453K probably damaging Het
Pcnx1 A G 12: 81,980,448 (GRCm39) H865R probably benign Het
Pex1 T C 5: 3,653,341 (GRCm39) V80A possibly damaging Het
Phka2 T A X: 159,337,323 (GRCm39) D424E probably damaging Het
Pkd1 C T 17: 24,793,770 (GRCm39) T1819I probably benign Het
Poglut1 T C 16: 38,355,169 (GRCm39) D219G probably damaging Het
Ppargc1a T C 5: 51,631,130 (GRCm39) I500V possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Pygm C G 19: 6,438,185 (GRCm39) N163K probably benign Het
Qrich1 T A 9: 108,436,469 (GRCm39) N722K possibly damaging Het
Reep6 T A 10: 80,166,156 (GRCm39) C104* probably null Het
Sis G A 3: 72,820,570 (GRCm39) T1398I probably benign Het
Skint5 A G 4: 113,676,360 (GRCm39) probably null Het
Slc7a14 A G 3: 31,291,511 (GRCm39) probably benign Het
Smc2 T A 4: 52,462,948 (GRCm39) M646K probably benign Het
Snx29 A G 16: 11,449,356 (GRCm39) N165S probably damaging Het
Supt6 T A 11: 78,115,187 (GRCm39) probably benign Het
Tead4 G T 6: 128,247,925 (GRCm39) S37R probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tex56 T A 13: 35,108,574 (GRCm39) Y19N probably damaging Het
Tff2 T C 17: 31,362,199 (GRCm39) K40E probably benign Het
Traip C T 9: 107,840,118 (GRCm39) T265M probably benign Het
Trim47 T C 11: 115,999,109 (GRCm39) T256A probably benign Het
Trpm1 A G 7: 63,890,303 (GRCm39) M853V possibly damaging Het
Tti1 G T 2: 157,849,365 (GRCm39) Q625K possibly damaging Het
Ube2n A G 10: 95,377,128 (GRCm39) N31S probably damaging Het
Vmn2r17 T C 5: 109,600,352 (GRCm39) M550T probably damaging Het
Zfp512 T A 5: 31,622,793 (GRCm39) N31K probably benign Het
Zfp64 A G 2: 168,767,728 (GRCm39) V628A probably damaging 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
R2960:Rfx8 UTSW 1 39,722,112 (GRCm39) missense probably damaging 1.00
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'- ATGCTGTTCTGGGCTGGTATATA -3'
(R):5'- AGCGCCCACCAAGTAAGAAG -3'

Sequencing Primer
(F):5'- CTGGTATATATTGGAGGTGCTGTTC -3'
(R):5'- GAGTAGTTTCCAAACACAGCCTG -3'
Posted On 2014-09-17