Incidental Mutation 'IGL02870:Rfx8'
ID362545
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 #IGL02870
Quality Score
Status
Chromosome1
Chromosomal Location39665301-39720997 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 39683711 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 249 (V249I)
Ref Sequence ENSEMBL: ENSMUSP00000121212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151913]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126760
Predicted Effect possibly damaging
Transcript: ENSMUST00000151913
AA Change: V249I

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: V249I

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,563,732 V1042M probably benign Het
Agmat C A 4: 141,746,942 H45N probably benign Het
Akap13 T A 7: 75,609,188 V520D probably damaging Het
Ccser1 T A 6: 61,311,292 N146K probably damaging Het
Cdhr4 T A 9: 107,998,064 probably null Het
Col4a1 G A 8: 11,221,375 T753I probably benign Het
Cyp3a59 T C 5: 146,098,184 I224T probably benign Het
Ddx19a G T 8: 110,983,626 P114Q probably damaging Het
Eftud2 A G 11: 102,862,626 V275A probably damaging Het
Fgd6 T C 10: 94,045,164 S627P probably damaging Het
Flywch1 C T 17: 23,755,902 G541D probably damaging Het
Grk2 T C 19: 4,290,402 D317G probably damaging Het
H2-M5 T C 17: 36,989,033 E83G probably benign Het
Hltf T C 3: 20,099,873 F658L probably damaging Het
Hmmr G T 11: 40,714,075 Q390K possibly damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Nsd1 A T 13: 55,313,603 T2548S probably benign Het
Olfr341 G A 2: 36,480,031 A33V probably benign Het
P3h1 C T 4: 119,247,571 R684W probably damaging Het
Peli2 G A 14: 48,256,265 V315M probably damaging Het
Pfkl T A 10: 78,000,839 K115* probably null Het
Plcxd1 A G 5: 110,101,405 T33A probably damaging Het
Ranbp17 A G 11: 33,243,262 S931P probably damaging Het
Retsat T C 6: 72,607,024 Y500H probably damaging Het
Runx1t1 A T 4: 13,889,867 I599L unknown Het
Sardh A T 2: 27,235,491 I337N possibly damaging Het
Serpinb7 A T 1: 107,450,287 M237L probably damaging Het
Slc35f1 A G 10: 52,933,207 S97G possibly damaging Het
Stab1 T C 14: 31,139,397 D2520G probably benign Het
Tnfrsf11b C T 15: 54,256,027 V184M probably benign Het
Trpv4 A T 5: 114,625,056 V764E probably damaging Het
Tsc22d1 C A 14: 76,417,617 A430E probably benign Het
Ttn T C 2: 76,750,605 R23315G probably damaging Het
Txnrd1 A G 10: 82,895,979 I478M probably benign Het
Ush2a T C 1: 188,678,358 V2401A probably benign Het
Vill T C 9: 119,061,899 L191P probably damaging Het
Vmn1r30 A G 6: 58,435,370 V159A probably benign Het
Washc4 T A 10: 83,585,876 N939K probably benign Het
Wdfy3 A G 5: 101,855,471 V2926A probably damaging Het
Wdr7 T C 18: 63,791,843 S966P probably benign Het
Zfp12 C A 5: 143,245,331 T471N probably damaging 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
IGL02239:Rfx8 APN 1 39680886 missense probably benign 0.00
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
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 On2015-12-18