Incidental Mutation 'R7399:Rfxank'
ID 596116
Institutional Source Beutler Lab
Gene Symbol Rfxank
Ensembl Gene ENSMUSG00000036120
Gene Name regulatory factor X-associated ankyrin-containing protein
Synonyms Tvl1
MMRRC Submission 045481-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7399 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 70130794-70139154 bp(-) (GRCm38)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 70135286 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002418] [ENSMUST00000075724] [ENSMUST00000095273] [ENSMUST00000110139] [ENSMUST00000123760] [ENSMUST00000129668] [ENSMUST00000163756] [ENSMUST00000211898] [ENSMUST00000212320]
AlphaFold Q9Z205
Predicted Effect probably benign
Transcript: ENSMUST00000002418
SMART Domains Protein: ENSMUSP00000002418
Gene: ENSMUSG00000002345

DomainStartEndE-ValueType
Pfam:NEP 1 119 1.7e-51 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000075724
SMART Domains Protein: ENSMUSP00000075140
Gene: ENSMUSG00000036120

DomainStartEndE-ValueType
ANK 132 161 1.36e-2 SMART
ANK 165 194 5.16e-3 SMART
ANK 198 227 7.42e-4 SMART
ANK 231 260 2.35e3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095273
SMART Domains Protein: ENSMUSP00000092907
Gene: ENSMUSG00000071078

DomainStartEndE-ValueType
SCOP:d1jhja_ 22 64 6e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110139
SMART Domains Protein: ENSMUSP00000105766
Gene: ENSMUSG00000002345

DomainStartEndE-ValueType
Pfam:NEP 1 107 2.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123760
SMART Domains Protein: ENSMUSP00000118102
Gene: ENSMUSG00000002345

DomainStartEndE-ValueType
Pfam:NEP 1 78 2.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129668
SMART Domains Protein: ENSMUSP00000137694
Gene: ENSMUSG00000002345

DomainStartEndE-ValueType
Pfam:NEP 1 78 2.4e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163756
SMART Domains Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
low complexity region 285 297 N/A INTRINSIC
low complexity region 320 335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211898
Predicted Effect probably null
Transcript: ENSMUST00000212320
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T G 11: 84,260,679 (GRCm38) V801G possibly damaging Het
Actbl2 T A 13: 111,255,593 (GRCm38) M154K probably benign Het
Adam7 A T 14: 68,504,466 (GRCm38) probably null Het
Arfgef1 T A 1: 10,180,897 (GRCm38) T888S probably benign Het
AW554918 C T 18: 25,169,060 (GRCm38) P10L possibly damaging Het
Bcap29 A G 12: 31,630,882 (GRCm38) I35T probably damaging Het
Bhlhe40 TG TGG 6: 108,664,857 (GRCm38) 254 probably null Het
C87499 C A 4: 88,627,965 (GRCm38) R380L probably benign Het
Cdc25b A G 2: 131,194,654 (GRCm38) D458G probably damaging Het
Cdc42bpb T C 12: 111,305,667 (GRCm38) K1104R probably benign Het
Cep89 A G 7: 35,438,378 (GRCm38) N729S probably damaging Het
Clec4a4 T A 6: 122,991,829 (GRCm38) M51K possibly damaging Het
Dcdc2b A G 4: 129,609,629 (GRCm38) L270P probably damaging Het
Dennd5b G T 6: 149,036,483 (GRCm38) H639N probably damaging Het
Dnah11 T C 12: 118,125,785 (GRCm38) E1182G probably damaging Het
Dnah11 T G 12: 118,027,477 (GRCm38) T2385P probably benign Het
Dok7 T C 5: 35,066,471 (GRCm38) V81A probably damaging Het
Dtx1 T A 5: 120,682,393 (GRCm38) M494L possibly damaging Het
Foxj1 A T 11: 116,332,254 (GRCm38) L241Q possibly damaging Het
Gbp10 G A 5: 105,236,149 (GRCm38) probably benign Het
Hnmt T A 2: 24,003,880 (GRCm38) T201S probably benign Het
Jup G T 11: 100,378,351 (GRCm38) T412K possibly damaging Het
Kcnh2 G A 5: 24,322,059 (GRCm38) S954F probably damaging Het
Klhdc7b A C 15: 89,388,644 (GRCm38) K585T possibly damaging Het
Klk7 T A 7: 43,812,000 (GRCm38) S14T probably benign Het
Lama4 G A 10: 39,047,948 (GRCm38) E451K probably damaging Het
Ldhb A G 6: 142,495,673 (GRCm38) C164R probably damaging Het
Malrd1 G A 2: 15,610,090 (GRCm38) D239N Het
Mgam T A 6: 40,666,854 (GRCm38) V572E probably damaging Het
Mrgprb2 G T 7: 48,552,142 (GRCm38) N278K probably damaging Het
Msto1 A G 3: 88,911,823 (GRCm38) Y206H probably damaging Het
Myo6 A G 9: 80,262,291 (GRCm38) S467G unknown Het
Mysm1 T A 4: 94,961,727 (GRCm38) I447L probably benign Het
Nav3 T C 10: 109,852,934 (GRCm38) E494G possibly damaging Het
Nol10 T G 12: 17,402,173 (GRCm38) V376G probably damaging Het
Nup205 T A 6: 35,214,676 (GRCm38) I1032N probably damaging Het
Olfr1002 T A 2: 85,647,424 (GRCm38) D299V possibly damaging Het
Olfr1100 G A 2: 86,978,157 (GRCm38) T213I probably benign Het
Olfr1170 A T 2: 88,225,022 (GRCm38) Y3* probably null Het
Olfr1450 A G 19: 12,954,447 (GRCm38) N286S probably damaging Het
Olfr449 T G 6: 42,838,746 (GRCm38) Y288* probably null Het
Olfr455 A G 6: 42,538,728 (GRCm38) F98S possibly damaging Het
Olfr617 A T 7: 103,584,381 (GRCm38) I120L possibly damaging Het
Olfr782 A T 10: 129,350,557 (GRCm38) probably benign Het
Olfr996 A G 2: 85,579,296 (GRCm38) D19G probably benign Het
Oog2 A G 4: 144,195,281 (GRCm38) K254E probably benign Het
Osbpl11 T A 16: 33,236,279 (GRCm38) D694E probably benign Het
Pcm1 T A 8: 41,293,510 (GRCm38) Y1210N probably benign Het
Pdxk T C 10: 78,440,863 (GRCm38) M293V probably benign Het
Plcb3 T C 19: 6,962,867 (GRCm38) I451V probably benign Het
Plekhm2 A G 4: 141,634,376 (GRCm38) F272S probably damaging Het
Ptgdr A T 14: 44,858,232 (GRCm38) probably null Het
Ptprf C T 4: 118,226,523 (GRCm38) V788I probably benign Het
Ralbp1 C T 17: 65,854,148 (GRCm38) V467I probably benign Het
Ralgds A C 2: 28,543,655 (GRCm38) Q229P possibly damaging Het
Recql T C 6: 142,374,884 (GRCm38) D146G probably damaging Het
Reln T C 5: 22,051,367 (GRCm38) N493S probably damaging Het
Scn5a A T 9: 119,486,530 (GRCm38) M1704K probably damaging Het
Slc7a7 G T 14: 54,374,268 (GRCm38) A316E possibly damaging Het
Slco1a6 A T 6: 142,091,068 (GRCm38) C538S probably benign Het
Spert A G 14: 75,592,637 (GRCm38) S39P probably benign Het
Stard6 T C 18: 70,498,647 (GRCm38) probably null Het
Strip2 T A 6: 29,927,613 (GRCm38) M219K possibly damaging Het
Tcam1 T C 11: 106,284,085 (GRCm38) V122A probably damaging Het
Tha1 A G 11: 117,869,690 (GRCm38) V236A possibly damaging Het
Tmem201 A T 4: 149,731,097 (GRCm38) I132N possibly damaging Het
Tnc T C 4: 64,020,657 (GRCm38) probably benign Het
Vmn1r42 T C 6: 89,845,513 (GRCm38) T25A probably benign Het
Vmn2r94 T A 17: 18,244,503 (GRCm38) probably null Het
Wdfy4 A C 14: 33,068,906 (GRCm38) V2188G Het
Zfp623 T C 15: 75,947,398 (GRCm38) S68P probably damaging Het
Zfp950 A T 19: 61,119,155 (GRCm38) C497S probably damaging Het
Zkscan2 C T 7: 123,480,104 (GRCm38) E877K probably damaging Het
Zp3r C A 1: 130,577,053 (GRCm38) V536L probably damaging Het
Other mutations in Rfxank
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1576:Rfxank UTSW 8 70,134,303 (GRCm38) missense possibly damaging 0.95
R4303:Rfxank UTSW 8 70,136,212 (GRCm38) missense probably damaging 1.00
R7033:Rfxank UTSW 8 70,138,170 (GRCm38) missense probably benign
R7355:Rfxank UTSW 8 70,135,307 (GRCm38) missense probably damaging 1.00
R7385:Rfxank UTSW 8 70,134,635 (GRCm38) missense probably damaging 1.00
R8218:Rfxank UTSW 8 70,131,435 (GRCm38) splice site probably null
R8377:Rfxank UTSW 8 70,135,310 (GRCm38) missense probably damaging 1.00
R8476:Rfxank UTSW 8 70,138,178 (GRCm38) missense probably benign 0.00
R9671:Rfxank UTSW 8 70,135,548 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGCAGCAACCTCACGATGTC -3'
(R):5'- GTGTAATGTTCCCCTTCATGTGAC -3'

Sequencing Primer
(F):5'- GATGTCCGTGTAGCCACCCATAC -3'
(R):5'- TCATGTGACCCCTGAACCC -3'
Posted On 2019-11-18