Incidental Mutation 'IGL01063:Rfx8'
ID 50175
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01063
Quality Score
Status
Chromosome 1
Chromosomal Location 39704459-39760149 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 39722110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 292 (K292*)
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 null
Transcript: ENSMUST00000151913
AA Change: K292*
SMART Domains Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: K292*

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
4930444P10Rik A T 1: 16,148,870 (GRCm39) L61* probably null Het
Abca7 T C 10: 79,847,131 (GRCm39) I1705T probably damaging Het
Ablim1 T A 19: 57,049,760 (GRCm39) I393F probably damaging Het
Adamts5 A G 16: 85,696,722 (GRCm39) L145P probably damaging Het
Ano6 T C 15: 95,846,310 (GRCm39) I537T probably damaging Het
AU018091 T C 7: 3,212,153 (GRCm39) I190V possibly damaging Het
Camk1 T A 6: 113,315,333 (GRCm39) D155V probably damaging Het
Cdh6 A C 15: 13,064,581 (GRCm39) I103S probably damaging Het
Cntnap1 A G 11: 101,072,614 (GRCm39) D537G probably benign Het
Col6a3 T C 1: 90,730,054 (GRCm39) K1144E probably damaging Het
Cpeb1 T A 7: 81,021,929 (GRCm39) E71D probably benign Het
Cps1 T C 1: 67,234,325 (GRCm39) L904P possibly damaging Het
Cyfip1 T A 7: 55,553,958 (GRCm39) F700I probably damaging Het
Dmp1 G A 5: 104,354,965 (GRCm39) M1I probably null Het
Efcab6 A T 15: 83,938,713 (GRCm39) M1K probably null Het
Extl2 A T 3: 115,821,131 (GRCm39) H312L possibly damaging Het
Fat4 C A 3: 38,944,728 (GRCm39) A1207D possibly damaging Het
Flnb T C 14: 7,926,518 (GRCm38) probably benign Het
Hdac10 G T 15: 89,008,071 (GRCm39) A593E possibly damaging Het
Hdhd2 T C 18: 77,052,969 (GRCm39) probably null Het
Kcnq2 A G 2: 180,751,582 (GRCm39) probably benign Het
Kdm7a A G 6: 39,142,064 (GRCm39) F405L probably damaging Het
Lypd6b C A 2: 49,833,642 (GRCm39) probably benign Het
Mki67 A T 7: 135,296,651 (GRCm39) D2794E possibly damaging Het
Mtmr14 T A 6: 113,243,287 (GRCm39) F40I probably damaging Het
Or2y3 G T 17: 38,393,544 (GRCm39) S108R possibly damaging Het
Or5p55 A T 7: 107,566,741 (GRCm39) I46F probably damaging Het
Or6d13 T A 6: 116,517,968 (GRCm39) C185S probably damaging Het
Or6x1 A T 9: 40,099,052 (GRCm39) I214F probably benign Het
Ppargc1a C A 5: 51,631,664 (GRCm39) V322L probably benign Het
Ppfibp1 T A 6: 146,931,195 (GRCm39) M917K probably benign Het
Prkg2 C T 5: 99,117,795 (GRCm39) probably null Het
Rfx4 A G 10: 84,704,246 (GRCm39) E296G possibly damaging Het
Scamp3 C A 3: 89,084,973 (GRCm39) probably benign Het
Scn4a A T 11: 106,221,190 (GRCm39) I823N possibly damaging Het
Sdk2 A G 11: 113,721,668 (GRCm39) V1316A probably damaging Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Stard8 G T X: 98,116,694 (GRCm39) R983L probably damaging Het
Tbc1d23 A T 16: 57,013,038 (GRCm39) D311E probably benign Het
Tex21 T C 12: 76,245,592 (GRCm39) H568R probably benign Het
Tex35 T C 1: 156,932,667 (GRCm39) probably benign Het
Tgs1 T A 4: 3,591,292 (GRCm39) F442I possibly damaging Het
Traf2 C A 2: 25,414,931 (GRCm39) C303F probably benign Het
Trim56 A T 5: 137,143,354 (GRCm39) V54D possibly damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfp668 A T 7: 127,465,454 (GRCm39) C577S probably damaging Het
Other mutations in Rfx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21