Incidental Mutation 'R0433:Rfx6'
ID 38937
Institutional Source Beutler Lab
Gene Symbol Rfx6
Ensembl Gene ENSMUSG00000019900
Gene Name regulatory factor X, 6
Synonyms 4930572O07Rik, Rfxdc1
MMRRC Submission 038635-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0433 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 51553856-51606525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51596124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 435 (D435G)
Ref Sequence ENSEMBL: ENSMUSP00000151430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050455] [ENSMUST00000122922] [ENSMUST00000219364]
AlphaFold Q8C7R7
Predicted Effect probably damaging
Transcript: ENSMUST00000050455
AA Change: D205G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057384
Gene: ENSMUSG00000019900
AA Change: D205G

DomainStartEndE-ValueType
Blast:HisKA 91 153 1e-7 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000122922
AA Change: D469G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116057
Gene: ENSMUSG00000019900
AA Change: D469G

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 probably damaging
Transcript: ENSMUST00000219364
AA Change: D435G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000219771
AA Change: D256G
Meta Mutation Damage Score 0.4169 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.3%
Validation Efficiency 99% (108/109)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,636 (GRCm39) V199A possibly damaging Het
Abcb5 T C 12: 118,841,545 (GRCm39) M967V probably benign Het
Adcy10 T A 1: 165,379,591 (GRCm39) L951Q probably damaging Het
Amer2 A T 14: 60,616,032 (GRCm39) S76C probably damaging Het
Atad1 T C 19: 32,675,877 (GRCm39) I182M probably benign Het
Bpi A G 2: 158,100,339 (GRCm39) D42G probably damaging Het
C7 G T 15: 5,018,398 (GRCm39) T815K probably damaging Het
Cacna1g T A 11: 94,350,033 (GRCm39) D604V probably benign Het
Camk1g A G 1: 193,036,366 (GRCm39) F165L probably damaging Het
Ccdc69 C T 11: 54,943,716 (GRCm39) probably null Het
Ccser2 A C 14: 36,640,486 (GRCm39) F37L probably damaging Het
Cfap43 A G 19: 47,814,210 (GRCm39) F208S probably benign Het
Cfap54 G A 10: 92,814,942 (GRCm39) probably benign Het
Cfap69 A C 5: 5,699,853 (GRCm39) D62E probably damaging Het
Cnksr2 A T X: 156,671,554 (GRCm39) M483K probably benign Het
Cnksr2 C A X: 156,671,553 (GRCm39) M483I probably benign Het
Cog8 T C 8: 107,783,110 (GRCm39) S60G possibly damaging Het
Col4a3 C T 1: 82,647,940 (GRCm39) P484S unknown Het
Col6a4 C T 9: 105,945,193 (GRCm39) G974R probably damaging Het
Cplane1 T C 15: 8,246,046 (GRCm39) S1473P probably benign Het
Dbnl T G 11: 5,746,825 (GRCm39) probably null Het
Dhcr7 T C 7: 143,394,200 (GRCm39) C114R possibly damaging Het
Dnah2 C A 11: 69,350,114 (GRCm39) D2340Y probably damaging Het
Dnai4 T C 4: 102,960,450 (GRCm39) N67D probably benign Het
Dusp10 T A 1: 183,801,393 (GRCm39) Y387N probably damaging Het
Eipr1 C T 12: 28,909,330 (GRCm39) T199I possibly damaging Het
Emc2 T G 15: 43,360,520 (GRCm39) probably null Het
Enpp3 A G 10: 24,696,495 (GRCm39) S147P probably benign Het
Fam133b T A 5: 3,608,560 (GRCm39) probably benign Het
Fat1 C A 8: 45,477,686 (GRCm39) T2244K possibly damaging Het
Fbn1 A G 2: 125,190,135 (GRCm39) S1453P possibly damaging Het
Fez2 A T 17: 78,725,476 (GRCm39) F13I probably damaging Het
Ggnbp2 T C 11: 84,727,246 (GRCm39) K530R probably damaging Het
Gpa33 T C 1: 165,991,330 (GRCm39) probably benign Het
Gpr142 T C 11: 114,696,823 (GRCm39) I123T probably damaging Het
Il21 T G 3: 37,286,684 (GRCm39) I11L possibly damaging Het
Klhl7 A G 5: 24,332,700 (GRCm39) E86G probably damaging Het
Klk10 G T 7: 43,430,989 (GRCm39) A11S possibly damaging Het
Knl1 A T 2: 118,934,542 (GRCm39) D2115V probably damaging Het
Lonp2 A G 8: 87,360,582 (GRCm39) D185G probably damaging Het
Lrrc47 T C 4: 154,102,822 (GRCm39) probably benign Het
Lrrcc1 A G 3: 14,624,434 (GRCm39) I698V probably damaging Het
Lzts2 T C 19: 45,010,115 (GRCm39) V83A possibly damaging Het
Melk C A 4: 44,340,614 (GRCm39) probably benign Het
Mical1 G A 10: 41,355,486 (GRCm39) V150I probably benign Het
Morn3 C A 5: 123,177,396 (GRCm39) M129I probably benign Het
Mroh2b T A 15: 4,971,116 (GRCm39) D1040E probably benign Het
Mroh5 T C 15: 73,661,877 (GRCm39) N438S probably benign Het
Mroh5 T A 15: 73,662,657 (GRCm39) Q387L probably damaging Het
Myh15 A G 16: 48,965,599 (GRCm39) D1168G probably damaging Het
Nek10 A G 14: 14,860,927 (GRCm38) E493G probably benign Het
Nipsnap3a A G 4: 53,000,316 (GRCm39) Y227C probably damaging Het
Nlrp9c T A 7: 26,085,244 (GRCm39) T112S probably benign Het
Nphp4 T C 4: 152,602,629 (GRCm39) V401A probably benign Het
Nr1h2 A G 7: 44,199,411 (GRCm39) *365Q probably null Het
Or13p5 T C 4: 118,592,287 (GRCm39) V187A probably benign Het
Or5p54 T C 7: 107,554,469 (GRCm39) I207T probably damaging Het
Pacs2 T A 12: 113,020,464 (GRCm39) V279D possibly damaging Het
Pdcd2 C T 17: 15,746,646 (GRCm39) C171Y probably benign Het
Pde11a T A 2: 76,168,050 (GRCm39) D301V possibly damaging Het
Pfpl T G 19: 12,406,839 (GRCm39) N363K probably damaging Het
Phf14 T A 6: 11,933,742 (GRCm39) S201R probably damaging Het
Pip4k2c G A 10: 127,044,815 (GRCm39) P66S probably benign Het
Pou2f3 G T 9: 43,038,693 (GRCm39) H392N probably benign Het
Pou3f1 G T 4: 124,552,697 (GRCm39) G400C probably damaging Het
Ptprg T C 14: 12,220,620 (GRCm38) I1219T probably damaging Het
Rhpn2 T A 7: 35,084,899 (GRCm39) S598T probably benign Het
Sdccag8 C A 1: 176,672,387 (GRCm39) probably null Het
Sec16b C A 1: 157,362,279 (GRCm39) Y43* probably null Het
Sele T C 1: 163,876,813 (GRCm39) Y30H possibly damaging Het
Sgsm2 C T 11: 74,749,016 (GRCm39) probably null Het
Slc45a2 T C 15: 11,025,831 (GRCm39) Y394H probably benign Het
Slc4a10 T G 2: 62,120,327 (GRCm39) I788S probably benign Het
Slmap A T 14: 26,174,749 (GRCm39) L161* probably null Het
Slx4 A T 16: 3,803,882 (GRCm39) D977E probably benign Het
Spata31e5 A T 1: 28,816,423 (GRCm39) Y536* probably null Het
Spata31f3 A G 4: 42,874,013 (GRCm39) probably benign Het
Spen A T 4: 141,211,069 (GRCm39) M608K unknown Het
St8sia4 G C 1: 95,519,429 (GRCm39) T353R probably damaging Het
Stab2 G T 10: 86,679,355 (GRCm39) probably benign Het
Stx12 C T 4: 132,585,741 (GRCm39) G213D probably damaging Het
Synj2 A T 17: 6,084,123 (GRCm39) N270Y probably damaging Het
Tdrd9 C T 12: 111,992,015 (GRCm39) R438* probably null Het
Tert T C 13: 73,775,200 (GRCm39) Y18H probably damaging Het
Tph1 A T 7: 46,303,245 (GRCm39) F244L probably damaging Het
Triobp T C 15: 78,852,401 (GRCm39) F852L possibly damaging Het
Trpv1 T C 11: 73,143,834 (GRCm39) probably benign Het
Uggt2 A T 14: 119,312,741 (GRCm39) probably null Het
Ulk4 A G 9: 120,873,885 (GRCm39) I1182T probably benign Het
Uqcc1 A G 2: 155,752,288 (GRCm39) Y98H probably damaging Het
Usp25 A G 16: 76,906,105 (GRCm39) I854V probably benign Het
Usp50 T C 2: 126,603,464 (GRCm39) S361G probably damaging Het
Uspl1 C A 5: 149,151,625 (GRCm39) Q743K probably damaging Het
Vmn2r3 A G 3: 64,183,054 (GRCm39) V215A possibly damaging Het
Vmn2r61 A T 7: 41,915,335 (GRCm39) H94L probably benign Het
Vps37c T C 19: 10,690,393 (GRCm39) V285A probably benign Het
Vwa8 T C 14: 79,300,116 (GRCm39) V983A probably damaging Het
Zcchc9 C T 13: 91,954,081 (GRCm39) R58H probably benign Het
Zdbf2 T C 1: 63,345,302 (GRCm39) V1227A possibly damaging Het
Zfp292 T C 4: 34,839,959 (GRCm39) K64E probably damaging Het
Zfp948 A G 17: 21,807,764 (GRCm39) T319A probably benign Het
Zp3r T G 1: 130,504,870 (GRCm39) probably benign Het
Other mutations in Rfx6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Rfx6 APN 10 51,557,982 (GRCm39) missense probably damaging 1.00
IGL00816:Rfx6 APN 10 51,554,501 (GRCm39) missense probably benign 0.16
IGL01639:Rfx6 APN 10 51,592,002 (GRCm39) nonsense probably null
IGL01721:Rfx6 APN 10 51,599,173 (GRCm39) missense probably damaging 1.00
IGL01861:Rfx6 APN 10 51,597,675 (GRCm39) missense probably damaging 1.00
IGL02103:Rfx6 APN 10 51,602,952 (GRCm39) missense possibly damaging 0.93
IGL02113:Rfx6 APN 10 51,554,108 (GRCm39) missense probably benign
IGL02479:Rfx6 APN 10 51,554,424 (GRCm39) missense probably benign 0.07
IGL02592:Rfx6 APN 10 51,592,119 (GRCm39) missense probably damaging 1.00
IGL02635:Rfx6 APN 10 51,592,122 (GRCm39) missense possibly damaging 0.80
IGL02891:Rfx6 APN 10 51,599,942 (GRCm39) missense possibly damaging 0.64
IGL03153:Rfx6 APN 10 51,599,217 (GRCm39) nonsense probably null
IGL03263:Rfx6 APN 10 51,601,903 (GRCm39) missense probably benign 0.00
IGL03373:Rfx6 APN 10 51,596,096 (GRCm39) missense probably damaging 0.99
bulky UTSW 10 51,554,429 (GRCm39) missense probably benign 0.00
R0060:Rfx6 UTSW 10 51,553,936 (GRCm39) missense probably benign 0.00
R1329:Rfx6 UTSW 10 51,569,833 (GRCm39) missense probably damaging 1.00
R1709:Rfx6 UTSW 10 51,554,498 (GRCm39) missense possibly damaging 0.64
R1820:Rfx6 UTSW 10 51,599,221 (GRCm39) critical splice donor site probably null
R2017:Rfx6 UTSW 10 51,597,700 (GRCm39) missense possibly damaging 0.50
R2020:Rfx6 UTSW 10 51,596,153 (GRCm39) critical splice donor site probably null
R2044:Rfx6 UTSW 10 51,594,222 (GRCm39) missense probably benign 0.16
R2495:Rfx6 UTSW 10 51,602,771 (GRCm39) splice site probably benign
R2655:Rfx6 UTSW 10 51,569,873 (GRCm39) splice site probably benign
R2912:Rfx6 UTSW 10 51,594,226 (GRCm39) missense probably damaging 1.00
R3159:Rfx6 UTSW 10 51,602,816 (GRCm39) missense probably damaging 1.00
R4036:Rfx6 UTSW 10 51,602,842 (GRCm39) missense probably damaging 1.00
R4536:Rfx6 UTSW 10 51,599,880 (GRCm39) missense probably benign 0.16
R4791:Rfx6 UTSW 10 51,596,040 (GRCm39) splice site probably null
R4945:Rfx6 UTSW 10 51,602,947 (GRCm39) nonsense probably null
R5223:Rfx6 UTSW 10 51,554,092 (GRCm39) nonsense probably null
R5233:Rfx6 UTSW 10 51,588,187 (GRCm39) nonsense probably null
R5448:Rfx6 UTSW 10 51,559,733 (GRCm39) missense probably damaging 1.00
R5600:Rfx6 UTSW 10 51,599,157 (GRCm39) missense probably damaging 1.00
R5768:Rfx6 UTSW 10 51,602,976 (GRCm39) missense probably damaging 0.99
R5858:Rfx6 UTSW 10 51,601,964 (GRCm39) missense probably benign 0.00
R5949:Rfx6 UTSW 10 51,554,429 (GRCm39) missense probably benign 0.00
R6001:Rfx6 UTSW 10 51,594,307 (GRCm39) splice site probably null
R6003:Rfx6 UTSW 10 51,584,683 (GRCm39) missense probably damaging 1.00
R6118:Rfx6 UTSW 10 51,587,962 (GRCm39) missense possibly damaging 0.91
R6629:Rfx6 UTSW 10 51,601,586 (GRCm39) missense probably benign 0.02
R6876:Rfx6 UTSW 10 51,596,087 (GRCm39) missense probably damaging 1.00
R6894:Rfx6 UTSW 10 51,592,135 (GRCm39) missense probably damaging 1.00
R6912:Rfx6 UTSW 10 51,599,949 (GRCm39) missense probably benign 0.00
R7130:Rfx6 UTSW 10 51,554,476 (GRCm39) nonsense probably null
R7574:Rfx6 UTSW 10 51,557,914 (GRCm39) missense probably benign 0.17
R7845:Rfx6 UTSW 10 51,554,122 (GRCm39) missense probably benign 0.05
R8188:Rfx6 UTSW 10 51,594,292 (GRCm39) missense probably benign 0.05
R8338:Rfx6 UTSW 10 51,594,190 (GRCm39) missense probably damaging 0.96
R8710:Rfx6 UTSW 10 51,601,501 (GRCm39) missense probably damaging 1.00
R8716:Rfx6 UTSW 10 51,557,968 (GRCm39) missense probably damaging 1.00
R8982:Rfx6 UTSW 10 51,599,915 (GRCm39) missense probably benign 0.14
R9104:Rfx6 UTSW 10 51,599,106 (GRCm39) missense probably damaging 1.00
R9154:Rfx6 UTSW 10 51,597,600 (GRCm39) missense probably benign 0.01
R9188:Rfx6 UTSW 10 51,594,263 (GRCm39) missense probably benign 0.04
R9388:Rfx6 UTSW 10 51,554,117 (GRCm39) missense possibly damaging 0.60
V8831:Rfx6 UTSW 10 51,594,304 (GRCm39) critical splice donor site probably null
X0023:Rfx6 UTSW 10 51,554,507 (GRCm39) missense probably damaging 1.00
Z1176:Rfx6 UTSW 10 51,601,927 (GRCm39) nonsense probably null
Z1176:Rfx6 UTSW 10 51,594,189 (GRCm39) missense probably benign 0.05
Predicted Primers
Posted On 2013-05-23