Incidental Mutation 'IGL00094:Rfx4'
ID 1227
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 # IGL00094
Quality Score
Status
Chromosome 10
Chromosomal Location 84591926-84742402 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84676063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 44 (L44Q)
Ref Sequence ENSEMBL: ENSMUSP00000128690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060397] [ENSMUST00000095388] [ENSMUST00000166696]
AlphaFold Q7TNK1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000020226
Predicted Effect probably damaging
Transcript: ENSMUST00000060397
AA Change: L187Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051107
Gene: ENSMUSG00000020037
AA Change: L187Q

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 probably damaging
Transcript: ENSMUST00000095388
AA Change: L93Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093035
Gene: ENSMUSG00000020037
AA Change: L93Q

DomainStartEndE-ValueType
SCOP:d1kwha_ 11 201 6e-3 SMART
Blast:HisKA 199 262 4e-7 BLAST
low complexity region 409 421 N/A INTRINSIC
low complexity region 427 443 N/A INTRINSIC
low complexity region 505 517 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166696
AA Change: L44Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128690
Gene: ENSMUSG00000020037
AA Change: L44Q

DomainStartEndE-ValueType
Blast:HisKA 150 213 6e-7 BLAST
low complexity region 360 372 N/A INTRINSIC
low complexity region 378 394 N/A INTRINSIC
low complexity region 456 468 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, 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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T A 5: 125,591,254 (GRCm39) N547K probably benign Het
Abca13 A G 11: 9,247,443 (GRCm39) T2397A probably benign Het
Abcc1 A G 16: 14,288,398 (GRCm39) N1341S probably null Het
Adcy9 T A 16: 4,122,446 (GRCm39) I535L probably benign Het
Akap6 A G 12: 53,187,763 (GRCm39) S1726G possibly damaging Het
Ap3d1 T C 10: 80,577,813 (GRCm39) M5V probably benign Het
Ash1l T A 3: 88,889,019 (GRCm39) N299K probably benign Het
B3gnt2 C T 11: 22,786,151 (GRCm39) V346I probably benign Het
Ceacam14 G A 7: 17,548,062 (GRCm39) V51I probably damaging Het
Cfap69 T C 5: 5,634,682 (GRCm39) D812G probably damaging Het
Cfap97d1 A G 11: 101,881,646 (GRCm39) E114G possibly damaging Het
Chrna9 T C 5: 66,126,600 (GRCm39) V118A probably benign Het
Cpsf7 A G 19: 10,517,151 (GRCm39) R418G probably damaging Het
Csnk1g3 T C 18: 54,052,075 (GRCm39) Y215H probably damaging Het
Dcaf5 A C 12: 80,386,097 (GRCm39) N676K probably benign Het
Dld A T 12: 31,385,576 (GRCm39) M255K probably benign Het
Esr2 A T 12: 76,180,670 (GRCm39) L417H probably damaging Het
Fsip2 T A 2: 82,820,730 (GRCm39) S5488T probably benign Het
Gatb A T 3: 85,509,227 (GRCm39) I130L possibly damaging Het
Gbp9 T C 5: 105,229,130 (GRCm39) K506E probably benign Het
Hkdc1 T C 10: 62,229,568 (GRCm39) N703S probably damaging Het
Itgb3 T A 11: 104,524,410 (GRCm39) V182E probably damaging Het
Itih4 A T 14: 30,617,426 (GRCm39) Y582F probably damaging Het
Lancl2 T A 6: 57,701,522 (GRCm39) probably benign Het
Lgals3 A G 14: 47,622,175 (GRCm39) K197R probably benign Het
Lipe T C 7: 25,082,977 (GRCm39) T767A probably damaging Het
Lrp2 T A 2: 69,338,123 (GRCm39) D1219V probably damaging Het
Lrriq3 T A 3: 154,806,698 (GRCm39) C116S probably benign Het
Mcm5 T G 8: 75,851,573 (GRCm39) probably null Het
Mtpn G T 6: 35,499,711 (GRCm39) T31K probably damaging Het
Mycbp2 A T 14: 103,460,486 (GRCm39) Y1494N probably damaging Het
Nbeal1 G T 1: 60,274,350 (GRCm39) E498* probably null Het
Nos1 T G 5: 118,048,165 (GRCm39) S657A probably damaging Het
Nr3c1 A T 18: 39,561,661 (GRCm39) probably null Het
Or12e7 T A 2: 87,288,271 (GRCm39) V254E probably damaging Het
Or13a17 A T 7: 140,271,349 (GRCm39) H177L probably damaging Het
Or4c127 T A 2: 89,833,365 (GRCm39) I205N possibly damaging Het
Or7g32 T A 9: 19,408,155 (GRCm39) I37N probably damaging Het
Or8g20 T C 9: 39,395,944 (GRCm39) I202V probably benign Het
Or8s8 T G 15: 98,354,299 (GRCm39) V36G possibly damaging Het
Or9i1 A T 19: 13,839,150 (GRCm39) probably benign Het
Osbp2 T G 11: 3,661,848 (GRCm39) S735R probably benign Het
Otop3 A T 11: 115,235,279 (GRCm39) T304S probably benign Het
Pcdhac2 A T 18: 37,278,128 (GRCm39) L369F probably damaging Het
Pick1 T C 15: 79,131,457 (GRCm39) probably benign Het
Prlhr A T 19: 60,456,119 (GRCm39) V149E probably damaging Het
Prss12 G A 3: 123,280,598 (GRCm39) probably benign Het
Rab19 A T 6: 39,365,132 (GRCm39) probably benign Het
Ralgapb T C 2: 158,262,776 (GRCm39) W5R probably damaging Het
Scube2 T C 7: 109,407,661 (GRCm39) T760A probably damaging Het
Shcbp1 A C 8: 4,804,258 (GRCm39) Y145* probably null Het
Snx31 T A 15: 36,545,761 (GRCm39) probably null Het
Spopl A T 2: 23,427,643 (GRCm39) V163E possibly damaging Het
Sqor T C 2: 122,629,463 (GRCm39) I107T probably damaging Het
Tcte1 T C 17: 45,845,854 (GRCm39) F153L probably damaging Het
Tnfrsf11b T A 15: 54,123,238 (GRCm39) H121L probably damaging Het
Tnip1 G T 11: 54,831,643 (GRCm39) Y10* probably null Het
Tnxb G T 17: 34,904,603 (GRCm39) G1123C probably damaging Het
Wdr62 T C 7: 29,942,948 (GRCm39) E515G probably benign Het
Zfand1 A T 3: 10,413,590 (GRCm39) D32E probably null Het
Zfp112 A C 7: 23,821,668 (GRCm39) T3P probably damaging Het
Other mutations in Rfx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Rfx4 APN 10 84,615,917 (GRCm39) missense possibly damaging 0.91
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 2011-07-12