Incidental Mutation 'IGL00588:Rfx3'
ID332719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfx3
Ensembl Gene ENSMUSG00000040929
Gene Nameregulatory factor X, 3 (influences HLA class II expression)
SynonymsC230093O12Rik, MRFX3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00588
Quality Score
Status
Chromosome19
Chromosomal Location27761721-28011166 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 27826076 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 270 (Q270*)
Ref Sequence ENSEMBL: ENSMUSP00000133461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046898] [ENSMUST00000165566] [ENSMUST00000172907] [ENSMUST00000173863] [ENSMUST00000174850]
Predicted Effect probably null
Transcript: ENSMUST00000046898
AA Change: Q245*
SMART Domains Protein: ENSMUSP00000038760
Gene: ENSMUSG00000040929
AA Change: Q245*

DomainStartEndE-ValueType
Pfam:RFX1_trans_act 1 140 6.3e-58 PFAM
Pfam:RFX_DNA_binding 150 235 6.9e-41 PFAM
low complexity region 274 283 N/A INTRINSIC
internal_repeat_1 326 414 1.39e-5 PROSPERO
internal_repeat_1 439 527 1.39e-5 PROSPERO
low complexity region 649 664 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000165566
AA Change: Q270*
SMART Domains Protein: ENSMUSP00000126313
Gene: ENSMUSG00000040929
AA Change: Q270*

DomainStartEndE-ValueType
Pfam:RFX1_trans_act 4 138 9.7e-38 PFAM
Pfam:RFX_DNA_binding 181 258 6.2e-36 PFAM
low complexity region 299 308 N/A INTRINSIC
internal_repeat_1 351 439 1.82e-5 PROSPERO
internal_repeat_1 464 552 1.82e-5 PROSPERO
low complexity region 674 689 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172498
Predicted Effect probably null
Transcript: ENSMUST00000172907
AA Change: Q270*
SMART Domains Protein: ENSMUSP00000134141
Gene: ENSMUSG00000040929
AA Change: Q270*

DomainStartEndE-ValueType
Pfam:RFX1_trans_act 1 140 9.4e-58 PFAM
Pfam:RFX_DNA_binding 175 260 5.2e-41 PFAM
low complexity region 299 308 N/A INTRINSIC
internal_repeat_1 351 439 1.82e-5 PROSPERO
internal_repeat_1 464 552 1.82e-5 PROSPERO
low complexity region 674 689 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173161
Predicted Effect probably null
Transcript: ENSMUST00000173863
AA Change: Q256*
SMART Domains Protein: ENSMUSP00000133367
Gene: ENSMUSG00000040929
AA Change: Q256*

DomainStartEndE-ValueType
Pfam:RFX1_trans_act 1 140 3.3e-58 PFAM
Pfam:RFX_DNA_binding 175 246 3.7e-24 PFAM
low complexity region 285 294 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000174850
AA Change: Q270*
SMART Domains Protein: ENSMUSP00000133461
Gene: ENSMUSG00000040929
AA Change: Q270*

DomainStartEndE-ValueType
Pfam:RFX1_trans_act 1 140 9.4e-58 PFAM
Pfam:RFX_DNA_binding 175 260 5.2e-41 PFAM
low complexity region 299 308 N/A INTRINSIC
internal_repeat_1 351 439 1.82e-5 PROSPERO
internal_repeat_1 464 552 1.82e-5 PROSPERO
low complexity region 674 689 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null mice display embryonic and perinatal lethality, impaired development of cilia on the embryonic node, abnormal left-right patterning, meso- and dextrocardia, and situs inversus in surviving adults. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc5 G A 17: 56,294,262 P288S probably damaging Het
Cd1d1 T C 3: 86,998,173 D171G probably damaging Het
Cd96 T C 16: 46,038,554 N530S probably benign Het
Csn1s1 A G 5: 87,667,259 I5V probably benign Het
Fam120b T A 17: 15,402,595 Y278* probably null Het
Fam160a1 G A 3: 85,672,618 T760M probably benign Het
Fam186a T C 15: 99,927,691 probably benign Het
Fam214a A G 9: 75,009,581 I487M probably damaging Het
Gimap6 T C 6: 48,702,421 K227R possibly damaging Het
Gli3 A T 13: 15,644,392 T260S possibly damaging Het
Gm12888 A T 4: 121,319,445 M53K possibly damaging Het
Klhl9 C T 4: 88,720,819 S395N probably damaging Het
Lpp T C 16: 24,845,188 M280T probably damaging Het
Ly96 A G 1: 16,706,228 probably null Het
Mamdc2 T A 19: 23,353,316 T376S possibly damaging Het
Man2b1 C A 8: 85,084,638 probably null Het
Ndufs8 G A 19: 3,911,740 R3C probably benign Het
Prox1 T C 1: 190,123,410 probably benign Het
Prrx1 T C 1: 163,261,967 N97S probably damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Slc1a2 A G 2: 102,756,001 I317V probably benign Het
Smim15 T C 13: 108,047,529 L23P probably damaging Het
Tcea3 A T 4: 136,273,692 N338Y probably damaging Het
Ttn A T 2: 76,827,727 probably benign Het
Zfp61 T A 7: 24,291,095 I544F probably benign Het
Zfp954 C T 7: 7,115,367 A393T probably benign Het
Other mutations in Rfx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00548:Rfx3 APN 19 27806186 critical splice donor site probably null
IGL01408:Rfx3 APN 19 27768650 missense probably benign 0.04
IGL01937:Rfx3 APN 19 27830729 missense probably damaging 1.00
IGL02668:Rfx3 APN 19 27815614 splice site probably benign
IGL02679:Rfx3 APN 19 27849737 missense possibly damaging 0.95
R0267:Rfx3 UTSW 19 27793788 missense probably benign 0.00
R0336:Rfx3 UTSW 19 27806262 missense probably benign 0.00
R0838:Rfx3 UTSW 19 27849967 missense possibly damaging 0.92
R0967:Rfx3 UTSW 19 27806351 splice site probably benign
R1102:Rfx3 UTSW 19 27867600 missense possibly damaging 0.51
R1507:Rfx3 UTSW 19 27768513 missense probably benign 0.00
R2172:Rfx3 UTSW 19 27815494 nonsense probably null
R2844:Rfx3 UTSW 19 27806786 splice site probably benign
R2960:Rfx3 UTSW 19 27900811 nonsense probably null
R4291:Rfx3 UTSW 19 27800232 missense probably damaging 1.00
R4952:Rfx3 UTSW 19 27830672 missense probably damaging 1.00
R5198:Rfx3 UTSW 19 27830776 missense probably damaging 1.00
R5451:Rfx3 UTSW 19 27849959 missense probably damaging 1.00
R5590:Rfx3 UTSW 19 27802380 critical splice donor site probably null
R5641:Rfx3 UTSW 19 27793608 splice site probably null
R5663:Rfx3 UTSW 19 27793617 missense probably damaging 1.00
R5899:Rfx3 UTSW 19 27830765 missense probably damaging 1.00
R6049:Rfx3 UTSW 19 27802395 missense probably damaging 0.99
R6368:Rfx3 UTSW 19 27768609 missense possibly damaging 0.92
R7131:Rfx3 UTSW 19 27768628 nonsense probably null
R7273:Rfx3 UTSW 19 27802458 missense probably damaging 1.00
Z1088:Rfx3 UTSW 19 27837450 missense probably damaging 1.00
Posted On2015-08-05