Incidental Mutation 'IGL02239:Rfx8'
ID286020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfx8
Ensembl Gene ENSMUSG00000057173
Gene Nameregulatory factor X 8
Synonyms4933400N17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02239
Quality Score
Status
Chromosome1
Chromosomal Location39665301-39720997 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39680886 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 343 (D343G)
Ref Sequence ENSEMBL: ENSMUSP00000121212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151913]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126760
Predicted Effect probably benign
Transcript: ENSMUST00000151913
AA Change: D343G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: D343G

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik T C 7: 140,295,843 F340S probably damaging Het
Abcf3 A G 16: 20,550,636 E262G possibly damaging Het
Adgra3 T A 5: 49,960,712 S1165C probably damaging Het
Akap11 A G 14: 78,513,849 L366P probably damaging Het
Astn1 T C 1: 158,664,130 probably null Het
Bhmt2 C T 13: 93,663,179 G250R probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntnap2 A G 6: 47,021,654 D880G probably damaging Het
Erc1 A G 6: 119,773,891 V443A probably damaging Het
Fbxw15 A G 9: 109,559,837 I168T probably benign Het
Fgfr2 C T 7: 130,177,686 A504T probably damaging Het
Galm A G 17: 80,145,038 D135G probably damaging Het
Gstp3 C T 19: 4,057,899 V145I possibly damaging Het
Hspa5 T C 2: 34,772,776 F115L probably benign Het
Lig4 A C 8: 9,972,473 S436A probably damaging Het
Ncam1 A G 9: 49,567,402 V99A probably damaging Het
Nell1 T A 7: 50,249,650 I336N probably benign Het
Olfr44 T A 9: 39,484,561 I231F probably damaging Het
Olfr476 T C 7: 107,968,047 S217P probably damaging Het
Olfr600 T C 7: 103,346,598 Y110C probably damaging Het
Patl1 A T 19: 11,937,359 K625* probably null Het
Qrsl1 G A 10: 43,894,600 P99S possibly damaging Het
Serpinb3a T A 1: 107,051,688 Y28F probably benign Het
Slc6a4 A T 11: 77,027,156 I575F probably benign Het
Tbx5 T A 5: 119,871,280 S285T possibly damaging Het
Tmem229a A T 6: 24,955,540 S72T probably damaging Het
Ttn T C 2: 76,746,404 D24715G probably damaging Het
Zfp784 T C 7: 5,035,671 probably benign Het
Zswim2 T A 2: 83,938,763 K85* probably null Het
Other mutations in Rfx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Rfx8 APN 1 39682950 nonsense probably null
IGL01659:Rfx8 APN 1 39670573 missense probably damaging 1.00
IGL02302:Rfx8 APN 1 39665522 missense possibly damaging 0.50
IGL02332:Rfx8 APN 1 39718480 missense possibly damaging 0.89
IGL02598:Rfx8 APN 1 39695968 splice site probably benign
IGL02870:Rfx8 APN 1 39683711 missense possibly damaging 0.94
IGL03403:Rfx8 APN 1 39690173 missense possibly damaging 0.94
PIT4515001:Rfx8 UTSW 1 39690105 missense probably benign 0.04
R0060:Rfx8 UTSW 1 39718405 splice site probably benign
R0095:Rfx8 UTSW 1 39685536 missense possibly damaging 0.58
R0265:Rfx8 UTSW 1 39688577 missense possibly damaging 0.67
R1892:Rfx8 UTSW 1 39670586 splice site probably null
R2054:Rfx8 UTSW 1 39685559 missense possibly damaging 0.92
R2960:Rfx8 UTSW 1 39682952 missense probably damaging 1.00
R4554:Rfx8 UTSW 1 39680940 missense probably benign 0.00
R5410:Rfx8 UTSW 1 39710156 critical splice donor site probably null
R5496:Rfx8 UTSW 1 39670347 missense probably benign 0.01
R5502:Rfx8 UTSW 1 39682953 missense probably damaging 1.00
R5916:Rfx8 UTSW 1 39688619 missense probably benign 0.20
R6238:Rfx8 UTSW 1 39670394 missense probably damaging 0.96
R6360:Rfx8 UTSW 1 39680965 missense probably benign
R7593:Rfx8 UTSW 1 39683678 missense probably damaging 1.00
R7738:Rfx8 UTSW 1 39682931 missense probably damaging 1.00
T0722:Rfx8 UTSW 1 39683612 missense probably damaging 1.00
Z1088:Rfx8 UTSW 1 39682966 missense possibly damaging 0.88
Posted On2015-04-16