Incidental Mutation 'IGL02479:Rfx6'
ID295122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rfx6
Ensembl Gene ENSMUSG00000019900
Gene Nameregulatory factor X, 6
SynonymsRfxdc1, 4930572O07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02479
Quality Score
Status
Chromosome10
Chromosomal Location51677756-51730432 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 51678328 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 88 (D88E)
Ref Sequence ENSEMBL: ENSMUSP00000151430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122922] [ENSMUST00000219364]
Predicted Effect probably benign
Transcript: ENSMUST00000122922
AA Change: D88E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000116057
Gene: ENSMUSG00000019900
AA Change: D88E

DomainStartEndE-ValueType
Pfam:RFX_DNA_binding 120 198 1.9e-33 PFAM
Blast:HisKA 355 417 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217662
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219017
Predicted Effect probably benign
Transcript: ENSMUST00000219364
AA Change: D88E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygotes fail to feed normally, show small bowel obstruction and die within 2 days of birth. Mutants fail to generate any of the normal islet cell types except for pancreatic-polypeptide-producing cells. Some display a reduced pancreas size; however, primary cilia formation in islets is normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,501,398 Y528C probably damaging Het
Adam24 T A 8: 40,679,532 I13N probably benign Het
Arsj T C 3: 126,438,939 S445P possibly damaging Het
Btf3l4 G A 4: 108,826,176 T31I possibly damaging Het
Cask A T X: 13,557,058 D502E probably damaging Het
Cenpl T A 1: 161,083,067 S195T probably benign Het
Clhc1 T A 11: 29,578,107 I545N probably damaging Het
Clrn2 T C 5: 45,463,912 I216T probably benign Het
Csf2rb C T 15: 78,341,724 Q332* probably null Het
Cyp3a44 T C 5: 145,790,667 D284G probably benign Het
Dgka T C 10: 128,730,246 E345G probably benign Het
Dync1i2 G A 2: 71,235,979 V128I probably damaging Het
Eno3 T A 11: 70,660,888 probably benign Het
Epc2 T A 2: 49,532,135 I347K probably benign Het
F8 A T X: 75,288,240 N681K probably damaging Het
Fam207a T C 10: 77,514,327 S76G probably damaging Het
Fancm T A 12: 65,106,485 D1238E probably damaging Het
Fcna T A 2: 25,625,260 Q237L probably benign Het
Fpr2 A T 17: 17,892,812 R23S probably benign Het
Frmd3 A G 4: 74,187,515 D466G probably benign Het
Gen1 C A 12: 11,241,935 V618L probably benign Het
Gja4 T C 4: 127,312,424 E182G probably benign Het
Gsdmc T A 15: 63,777,975 I356F possibly damaging Het
Kctd19 T C 8: 105,384,768 D102G probably damaging Het
Lrit2 T C 14: 37,072,278 L433P probably damaging Het
Lrp2 G A 2: 69,464,801 probably benign Het
Luc7l3 G A 11: 94,296,909 probably benign Het
Map3k5 T A 10: 20,056,484 L458Q probably damaging Het
Mast4 A G 13: 102,742,037 S1038P probably damaging Het
Med12 A T X: 101,296,992 probably benign Het
Mtor T A 4: 148,470,584 L888M probably damaging Het
Nova1 A T 12: 46,816,918 I83N unknown Het
Obscn A G 11: 59,056,227 probably benign Het
Olfr1309 A C 2: 111,983,385 S230A probably benign Het
Olfr1320 T C X: 49,683,865 V121A probably benign Het
Olfr1426 T A 19: 12,087,905 M296L probably benign Het
Olfr420 C A 1: 174,158,954 Y60* probably null Het
Pde2a A G 7: 101,501,083 Y243C probably damaging Het
Pdzd8 T A 19: 59,299,783 K1062* probably null Het
Phc1 A T 6: 122,323,717 probably benign Het
Pik3c2g T A 6: 139,918,004 S764T probably benign Het
Pmp2 T G 3: 10,182,202 R89S probably benign Het
Prdm2 A G 4: 143,134,929 L597P probably damaging Het
Rgs9 T C 11: 109,225,652 S442G possibly damaging Het
Ror2 C T 13: 53,131,932 R82Q possibly damaging Het
Sez6 C A 11: 77,978,026 A986E possibly damaging Het
Slc5a5 T A 8: 70,888,911 M325L possibly damaging Het
Sppl2c G A 11: 104,186,937 V188I probably benign Het
Srrm3 G T 5: 135,835,249 C67F probably damaging Het
Stk31 A G 6: 49,421,688 E341G probably damaging Het
Svil A T 18: 5,099,476 M1267L probably damaging Het
Tas2r135 C T 6: 42,405,751 R75* probably null Het
Trav8d-1 T C 14: 52,778,800 S48P probably benign Het
Vrk1 A T 12: 106,051,002 Q95L probably benign Het
Wdr25 C A 12: 108,898,601 T224K probably benign Het
Wdr37 A T 13: 8,842,784 H224Q probably damaging Het
Zhx1 C T 15: 58,054,371 E160K probably damaging Het
Other mutations in Rfx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Rfx6 APN 10 51681886 missense probably damaging 1.00
IGL00816:Rfx6 APN 10 51678405 missense probably benign 0.16
IGL01639:Rfx6 APN 10 51715906 nonsense probably null
IGL01721:Rfx6 APN 10 51723077 missense probably damaging 1.00
IGL01861:Rfx6 APN 10 51721579 missense probably damaging 1.00
IGL02103:Rfx6 APN 10 51726856 missense possibly damaging 0.93
IGL02113:Rfx6 APN 10 51678012 missense probably benign
IGL02592:Rfx6 APN 10 51716023 missense probably damaging 1.00
IGL02635:Rfx6 APN 10 51716026 missense possibly damaging 0.80
IGL02891:Rfx6 APN 10 51723846 missense possibly damaging 0.64
IGL03153:Rfx6 APN 10 51723121 nonsense probably null
IGL03263:Rfx6 APN 10 51725807 missense probably benign 0.00
IGL03373:Rfx6 APN 10 51720000 missense probably damaging 0.99
bulky UTSW 10 51678333 missense probably benign 0.00
R0060:Rfx6 UTSW 10 51677840 missense probably benign 0.00
R0433:Rfx6 UTSW 10 51720028 missense probably damaging 1.00
R1329:Rfx6 UTSW 10 51693737 missense probably damaging 1.00
R1709:Rfx6 UTSW 10 51678402 missense possibly damaging 0.64
R1820:Rfx6 UTSW 10 51723125 critical splice donor site probably null
R2017:Rfx6 UTSW 10 51721604 missense possibly damaging 0.50
R2020:Rfx6 UTSW 10 51720057 critical splice donor site probably null
R2044:Rfx6 UTSW 10 51718126 missense probably benign 0.16
R2495:Rfx6 UTSW 10 51726675 splice site probably benign
R2655:Rfx6 UTSW 10 51693777 splice site probably benign
R2912:Rfx6 UTSW 10 51718130 missense probably damaging 1.00
R3159:Rfx6 UTSW 10 51726720 missense probably damaging 1.00
R4036:Rfx6 UTSW 10 51726746 missense probably damaging 1.00
R4536:Rfx6 UTSW 10 51723784 missense probably benign 0.16
R4791:Rfx6 UTSW 10 51719944 splice site probably null
R4945:Rfx6 UTSW 10 51726851 nonsense probably null
R5223:Rfx6 UTSW 10 51677996 nonsense probably null
R5233:Rfx6 UTSW 10 51712091 nonsense probably null
R5448:Rfx6 UTSW 10 51683637 missense probably damaging 1.00
R5600:Rfx6 UTSW 10 51723061 missense probably damaging 1.00
R5768:Rfx6 UTSW 10 51726880 missense probably damaging 0.99
R5858:Rfx6 UTSW 10 51725868 missense probably benign 0.00
R5949:Rfx6 UTSW 10 51678333 missense probably benign 0.00
R6001:Rfx6 UTSW 10 51718211 splice site probably null
R6003:Rfx6 UTSW 10 51708587 missense probably damaging 1.00
R6118:Rfx6 UTSW 10 51711866 missense possibly damaging 0.91
R6629:Rfx6 UTSW 10 51725490 missense probably benign 0.02
R6876:Rfx6 UTSW 10 51719991 missense probably damaging 1.00
R6894:Rfx6 UTSW 10 51716039 missense probably damaging 1.00
R6912:Rfx6 UTSW 10 51723853 missense probably benign 0.00
R7130:Rfx6 UTSW 10 51678380 nonsense probably null
V8831:Rfx6 UTSW 10 51718208 critical splice donor site probably null
X0023:Rfx6 UTSW 10 51678411 missense probably damaging 1.00
Posted On2015-04-16