Incidental Mutation 'IGL02454:Rfx4'
ID293774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfx4
Ensembl Gene ENSMUSG00000020037
Gene Nameregulatory factor X, 4 (influences HLA class II expression)
Synonyms4933412G19Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02454
Quality Score
Status
Chromosome10
Chromosomal Location84756062-84906538 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84840106 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 62 (T62M)
Ref Sequence ENSEMBL: ENSMUSP00000093035 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060397] [ENSMUST00000095388] [ENSMUST00000166696]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000020226
Predicted Effect probably benign
Transcript: ENSMUST00000060397
AA Change: T156M

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000051107
Gene: ENSMUSG00000020037
AA Change: T156M

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 possibly damaging
Transcript: ENSMUST00000095388
AA Change: T62M

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000093035
Gene: ENSMUSG00000020037
AA Change: T62M

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 benign
Transcript: ENSMUST00000166696
AA Change: T13M

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128690
Gene: ENSMUSG00000020037
AA Change: T13M

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik T A 16: 38,827,947 T267S probably benign Het
Amz2 T G 11: 109,434,061 probably benign Het
Atp13a5 A G 16: 29,232,808 F1104S probably benign Het
Cacna1c T C 6: 118,602,180 N1610S probably damaging Het
Ccnl1 A T 3: 65,956,897 D122E probably damaging Het
Crtc2 G A 3: 90,259,167 G65S probably benign Het
Dnah17 T C 11: 118,080,767 T2160A probably damaging Het
Fads3 T G 19: 10,055,119 L278R probably damaging Het
Foxp4 A T 17: 47,875,582 L424* probably null Het
Gm10392 A T 11: 77,518,390 E310V probably damaging Het
Gm11554 T A 11: 99,803,989 S133C unknown Het
Hacd2 T A 16: 35,106,391 F253L probably benign Het
Il3ra T C 14: 14,351,113 S212P probably benign Het
Mdn1 T C 4: 32,694,674 probably null Het
Mtfr1l A T 4: 134,530,385 L111H probably damaging Het
Mysm1 A G 4: 94,970,504 probably benign Het
Olfr418 C A 1: 173,270,940 S255Y probably damaging Het
Olfr646 T C 7: 104,106,612 V111A probably damaging Het
Plec A T 15: 76,191,031 F357I probably damaging Het
Polr3a C A 14: 24,475,823 V450L possibly damaging Het
Prkd1 T C 12: 50,364,673 K764R probably benign Het
Pxn C T 5: 115,552,266 P256S probably damaging Het
Rbm25 T A 12: 83,660,322 F247L probably benign Het
Rps4l-ps T C 7: 114,927,264 noncoding transcript Het
Scn11a A G 9: 119,758,544 I1378T probably benign Het
Siglecg T C 7: 43,408,895 S69P probably benign Het
Stox1 T C 10: 62,667,826 Y61C probably damaging Het
Tnks C T 8: 34,831,728 probably benign Het
Tpr A G 1: 150,431,192 S1587G probably benign Het
Trappc6b A G 12: 59,043,647 *97Q probably null Het
Usf3 T C 16: 44,217,182 V675A probably damaging Het
Wdr7 C T 18: 63,796,228 T1045M probably benign Het
Zc3h11a A T 1: 133,624,516 C618S probably benign Het
Zfp398 T C 6: 47,840,367 V47A possibly damaging Het
Zzz3 A G 3: 152,428,574 N423S probably benign Het
Other mutations in Rfx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Rfx4 APN 10 84840199 missense probably damaging 1.00
IGL00334:Rfx4 APN 10 84780053 missense possibly damaging 0.91
IGL00928:Rfx4 APN 10 84840114 missense probably benign 0.04
IGL01063:Rfx4 APN 10 84868382 missense possibly damaging 0.90
IGL01490:Rfx4 APN 10 84840851 missense possibly damaging 0.85
IGL02390:Rfx4 APN 10 84840150 missense probably damaging 1.00
R0099:Rfx4 UTSW 10 84894304 missense probably benign
R0503:Rfx4 UTSW 10 84894332 missense possibly damaging 0.56
R0924:Rfx4 UTSW 10 84868427 missense probably damaging 1.00
R0930:Rfx4 UTSW 10 84868427 missense probably damaging 1.00
R1386:Rfx4 UTSW 10 84863285 missense probably damaging 1.00
R1715:Rfx4 UTSW 10 84844280 missense probably damaging 1.00
R1738:Rfx4 UTSW 10 84880975 critical splice donor site probably null
R1987:Rfx4 UTSW 10 84896088 missense possibly damaging 0.87
R3717:Rfx4 UTSW 10 84880224 missense probably damaging 1.00
R4231:Rfx4 UTSW 10 84814694 missense probably benign 0.03
R4300:Rfx4 UTSW 10 84905102 missense probably damaging 0.98
R4581:Rfx4 UTSW 10 84844300 missense possibly damaging 0.93
R4582:Rfx4 UTSW 10 84844300 missense possibly damaging 0.93
R4618:Rfx4 UTSW 10 84880896 missense probably benign 0.01
R5156:Rfx4 UTSW 10 84868354 missense probably damaging 1.00
R5185:Rfx4 UTSW 10 84863250 missense probably damaging 1.00
R5377:Rfx4 UTSW 10 84860542 missense possibly damaging 0.81
R5601:Rfx4 UTSW 10 84798578 missense probably damaging 1.00
R5879:Rfx4 UTSW 10 84814761 critical splice donor site probably null
R5996:Rfx4 UTSW 10 84840017 nonsense probably null
R6358:Rfx4 UTSW 10 84844235 missense probably damaging 1.00
R6805:Rfx4 UTSW 10 84840228 missense possibly damaging 0.86
R7248:Rfx4 UTSW 10 84905055 missense probably benign 0.05
R7427:Rfx4 UTSW 10 84896012 missense probably benign 0.28
R7428:Rfx4 UTSW 10 84896012 missense probably benign 0.28
X0024:Rfx4 UTSW 10 84780074 missense possibly damaging 0.82
Posted On2015-04-16