Incidental Mutation 'IGL00334:Rfx4'
ID 4685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfx4
Ensembl Gene ENSMUSG00000020037
Gene Name regulatory factor X, 4 (influences HLA class II expression)
Synonyms 4933412G19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00334
Quality Score
Status
Chromosome 10
Chromosomal Location 84591926-84742402 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84615917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 28 (K28E)
Ref Sequence ENSEMBL: ENSMUSP00000051107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060397]
AlphaFold Q7TNK1
Predicted Effect possibly damaging
Transcript: ENSMUST00000060397
AA Change: K28E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051107
Gene: ENSMUSG00000020037
AA Change: K28E

DomainStartEndE-ValueType
Pfam:RFX_DNA_binding 58 136 7.9e-37 PFAM
Blast:HisKA 293 356 5e-7 BLAST
low complexity region 503 515 N/A INTRINSIC
low complexity region 521 537 N/A INTRINSIC
low complexity region 599 611 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173479
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, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
PHENOTYPE: Inactivating null allele or homozygous point mutation alleles exhibit missing dorsal midline structure of the cortex including the subcommissural organ and neonatal lethality. Heterozygous null mice have congenital hydrocephalus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsb T G 13: 94,075,787 (GRCm39) H423Q probably benign Het
Bltp2 T A 11: 78,160,400 (GRCm39) L620I possibly damaging Het
Ces1f T C 8: 93,994,620 (GRCm39) T264A probably benign Het
Clcn6 C A 4: 148,102,359 (GRCm39) probably null Het
Cyb5r3 C A 15: 83,044,605 (GRCm39) A138S probably benign Het
Cyp3a57 A T 5: 145,307,834 (GRCm39) N197Y probably damaging Het
Dctn2 A G 10: 127,113,559 (GRCm39) probably benign Het
Dnmt1 C T 9: 20,821,566 (GRCm39) A1197T possibly damaging Het
Dock2 T C 11: 34,595,488 (GRCm39) D436G probably damaging Het
Drd4 A G 7: 140,872,096 (GRCm39) N49S probably damaging Het
Dst T A 1: 34,205,373 (GRCm39) V521D probably damaging Het
Eif5b T C 1: 38,080,800 (GRCm39) S714P probably damaging Het
Glis3 A G 19: 28,517,664 (GRCm39) I178T probably damaging Het
Gm11565 T A 11: 99,806,021 (GRCm39) C138S possibly damaging Het
H1f8 T A 6: 115,924,588 (GRCm39) probably benign Het
Hdx T A X: 110,492,578 (GRCm39) I623F probably benign Het
Huwe1 T G X: 150,668,623 (GRCm39) L843V probably damaging Het
Hyal2 T C 9: 107,447,604 (GRCm39) Y86H probably damaging Het
Irf7 A T 7: 140,844,553 (GRCm39) S157T probably benign Het
Jmjd4 T A 11: 59,346,140 (GRCm39) M331K probably damaging Het
Kdm2a A T 19: 4,406,926 (GRCm39) D112E possibly damaging Het
Mamdc2 A C 19: 23,356,138 (GRCm39) Y103* probably null Het
Map2k3 T C 11: 60,834,041 (GRCm39) V77A possibly damaging Het
Mideas G A 12: 84,219,629 (GRCm39) R442* probably null Het
Mprip T A 11: 59,639,417 (GRCm39) D403E probably benign Het
Mutyh T A 4: 116,676,516 (GRCm39) V496D possibly damaging Het
Nbeal1 T C 1: 60,321,042 (GRCm39) V2051A probably damaging Het
Nbeal1 T C 1: 60,367,262 (GRCm39) L2575P probably damaging Het
Or10j5 T G 1: 172,785,158 (GRCm39) S265R possibly damaging Het
Or51a6 T C 7: 102,604,311 (GRCm39) K173E probably benign Het
Pcdhb6 T A 18: 37,467,277 (GRCm39) I66N probably damaging Het
Pck2 T C 14: 55,780,098 (GRCm39) Y89H probably benign Het
Poglut3 T A 9: 53,309,330 (GRCm39) probably benign Het
Poglut3 C A 9: 53,309,328 (GRCm39) probably benign Het
Polr3e C T 7: 120,540,034 (GRCm39) Q594* probably null Het
Ptpro T G 6: 137,371,907 (GRCm39) probably null Het
Shox2 T C 3: 66,888,774 (GRCm39) E39G possibly damaging Het
Slc22a16 A T 10: 40,449,930 (GRCm39) D122V probably benign Het
Smr3a A C 5: 88,155,919 (GRCm39) probably benign Het
Spmip8 G A 8: 96,039,676 (GRCm39) R31H probably damaging Het
Taf4 G T 2: 179,618,418 (GRCm39) L8M unknown Het
Tbkbp1 T A 11: 97,028,474 (GRCm39) probably benign Het
Tmem120b G T 5: 123,253,230 (GRCm39) E210D probably damaging Het
Tmem120b A T 5: 123,253,229 (GRCm39) probably null Het
Trim21 C T 7: 102,208,805 (GRCm39) V305M probably damaging Het
Ube4a A T 9: 44,859,439 (GRCm39) L353Q probably damaging Het
Zfyve1 A T 12: 83,621,572 (GRCm39) N274K probably benign Het
Other mutations in Rfx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Rfx4 APN 10 84,676,063 (GRCm39) missense probably damaging 1.00
IGL00928:Rfx4 APN 10 84,675,978 (GRCm39) missense probably benign 0.04
IGL01063:Rfx4 APN 10 84,704,246 (GRCm39) missense possibly damaging 0.90
IGL01490:Rfx4 APN 10 84,676,715 (GRCm39) missense possibly damaging 0.85
IGL02390:Rfx4 APN 10 84,676,014 (GRCm39) missense probably damaging 1.00
IGL02454:Rfx4 APN 10 84,675,970 (GRCm39) missense possibly damaging 0.83
R0099:Rfx4 UTSW 10 84,730,168 (GRCm39) missense probably benign
R0503:Rfx4 UTSW 10 84,730,196 (GRCm39) missense possibly damaging 0.56
R0924:Rfx4 UTSW 10 84,704,291 (GRCm39) missense probably damaging 1.00
R0930:Rfx4 UTSW 10 84,704,291 (GRCm39) missense probably damaging 1.00
R1386:Rfx4 UTSW 10 84,699,149 (GRCm39) missense probably damaging 1.00
R1715:Rfx4 UTSW 10 84,680,144 (GRCm39) missense probably damaging 1.00
R1738:Rfx4 UTSW 10 84,716,839 (GRCm39) critical splice donor site probably null
R1987:Rfx4 UTSW 10 84,731,952 (GRCm39) missense possibly damaging 0.87
R3717:Rfx4 UTSW 10 84,716,088 (GRCm39) missense probably damaging 1.00
R4231:Rfx4 UTSW 10 84,650,558 (GRCm39) missense probably benign 0.03
R4300:Rfx4 UTSW 10 84,740,966 (GRCm39) missense probably damaging 0.98
R4581:Rfx4 UTSW 10 84,680,164 (GRCm39) missense possibly damaging 0.93
R4582:Rfx4 UTSW 10 84,680,164 (GRCm39) missense possibly damaging 0.93
R4618:Rfx4 UTSW 10 84,716,760 (GRCm39) missense probably benign 0.01
R5156:Rfx4 UTSW 10 84,704,218 (GRCm39) missense probably damaging 1.00
R5185:Rfx4 UTSW 10 84,699,114 (GRCm39) missense probably damaging 1.00
R5377:Rfx4 UTSW 10 84,696,406 (GRCm39) missense possibly damaging 0.81
R5601:Rfx4 UTSW 10 84,634,442 (GRCm39) missense probably damaging 1.00
R5879:Rfx4 UTSW 10 84,650,625 (GRCm39) critical splice donor site probably null
R5996:Rfx4 UTSW 10 84,675,881 (GRCm39) nonsense probably null
R6358:Rfx4 UTSW 10 84,680,099 (GRCm39) missense probably damaging 1.00
R6805:Rfx4 UTSW 10 84,676,092 (GRCm39) missense possibly damaging 0.86
R7248:Rfx4 UTSW 10 84,740,919 (GRCm39) missense probably benign 0.05
R7427:Rfx4 UTSW 10 84,731,876 (GRCm39) missense probably benign 0.28
R7428:Rfx4 UTSW 10 84,731,876 (GRCm39) missense probably benign 0.28
R7514:Rfx4 UTSW 10 84,716,090 (GRCm39) missense probably damaging 1.00
R7576:Rfx4 UTSW 10 84,699,213 (GRCm39) missense probably damaging 0.98
R8002:Rfx4 UTSW 10 84,676,721 (GRCm39) missense probably damaging 0.97
R8838:Rfx4 UTSW 10 84,676,758 (GRCm39) missense probably damaging 1.00
R8938:Rfx4 UTSW 10 84,675,936 (GRCm39) missense probably damaging 1.00
R9359:Rfx4 UTSW 10 84,740,921 (GRCm39) missense probably benign 0.00
R9513:Rfx4 UTSW 10 84,674,050 (GRCm39) start codon destroyed probably null 0.01
RF010:Rfx4 UTSW 10 84,694,351 (GRCm39) critical splice acceptor site probably benign
RF014:Rfx4 UTSW 10 84,694,353 (GRCm39) critical splice acceptor site probably benign
RF015:Rfx4 UTSW 10 84,694,353 (GRCm39) critical splice acceptor site probably benign
RF023:Rfx4 UTSW 10 84,694,349 (GRCm39) critical splice acceptor site probably benign
RF030:Rfx4 UTSW 10 84,694,344 (GRCm39) critical splice acceptor site probably benign
RF035:Rfx4 UTSW 10 84,694,344 (GRCm39) critical splice acceptor site probably benign
RF046:Rfx4 UTSW 10 84,694,345 (GRCm39) critical splice acceptor site probably benign
RF060:Rfx4 UTSW 10 84,694,358 (GRCm39) critical splice acceptor site probably benign
RF062:Rfx4 UTSW 10 84,694,345 (GRCm39) critical splice acceptor site probably benign
X0024:Rfx4 UTSW 10 84,615,938 (GRCm39) missense possibly damaging 0.82
Z1177:Rfx4 UTSW 10 84,731,955 (GRCm39) missense probably benign 0.30
Z1177:Rfx4 UTSW 10 84,650,548 (GRCm39) missense possibly damaging 0.85
Posted On 2012-04-20