Incidental Mutation 'R9104:Rfx6'
ID 691902
Institutional Source Beutler Lab
Gene Symbol Rfx6
Ensembl Gene ENSMUSG00000019900
Gene Name regulatory factor X, 6
Synonyms 4930572O07Rik, Rfxdc1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9104 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 51553856-51606525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51599106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 487 (H487L)
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: H257L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057384
Gene: ENSMUSG00000019900
AA Change: H257L

DomainStartEndE-ValueType
Blast:HisKA 91 153 1e-7 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000122922
AA Change: H521L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116057
Gene: ENSMUSG00000019900
AA Change: H521L

DomainStartEndE-ValueType
Pfam:RFX_DNA_binding 120 198 1.9e-33 PFAM
Blast:HisKA 355 417 2e-7 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000219364
AA Change: H487L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect
Meta Mutation Damage Score 0.8176 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,023,108 (GRCm39) N127K probably damaging Het
Adgrl3 C T 5: 81,457,912 (GRCm39) A14V probably benign Het
Adra2b A G 2: 127,205,858 (GRCm39) Y125C probably damaging Het
Ahnak T A 19: 8,987,711 (GRCm39) H2998Q probably benign Het
B3galt1 C A 2: 67,948,406 (GRCm39) H40Q probably benign Het
Best3 T G 10: 116,860,680 (GRCm39) L647V probably benign Het
Brip1 T A 11: 86,077,897 (GRCm39) E177V possibly damaging Het
C1qtnf6 T C 15: 78,409,109 (GRCm39) D246G probably benign Het
C4b G A 17: 34,948,233 (GRCm39) T1622M probably benign Het
Catip G A 1: 74,401,682 (GRCm39) probably null Het
Ccdc138 T C 10: 58,348,982 (GRCm39) V176A probably benign Het
Ccdc85a T C 11: 28,526,879 (GRCm39) H243R probably damaging Het
Cep19 C T 16: 31,925,883 (GRCm39) T97M probably damaging Het
Copz2 G A 11: 96,747,514 (GRCm39) D166N possibly damaging Het
Dedd C T 1: 171,168,572 (GRCm39) L253F probably damaging Het
Dennd5a A G 7: 109,497,713 (GRCm39) probably null Het
Dpp10 A T 1: 123,339,484 (GRCm39) S348T probably damaging Het
Eci3 A G 13: 35,144,382 (GRCm39) probably null Het
Egr4 A G 6: 85,490,337 (GRCm39) S15P probably benign Het
Elp6 A G 9: 110,134,397 (GRCm39) T12A probably benign Het
Ewsr1 G T 11: 5,041,367 (GRCm39) P113T unknown Het
Exosc10 T G 4: 148,664,859 (GRCm39) L789R probably benign Het
Flt4 A G 11: 49,525,161 (GRCm39) Y669C probably damaging Het
Foxred2 A T 15: 77,836,517 (GRCm39) F333I probably damaging Het
Frs2 G T 10: 116,910,070 (GRCm39) H431N probably benign Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gm19410 T C 8: 36,247,621 (GRCm39) Y478H probably damaging Het
Gm3629 G A 14: 17,834,542 (GRCm39) R150C Het
Grik4 A C 9: 42,571,168 (GRCm39) L179R probably damaging Het
Gsdmc3 C T 15: 63,730,941 (GRCm39) probably null Het
Il20ra T A 10: 19,635,364 (GRCm39) M535K probably benign Het
Il9 A G 13: 56,628,401 (GRCm39) V96A possibly damaging Het
Itgal A G 7: 126,910,794 (GRCm39) D592G probably damaging Het
Klk1b11 C T 7: 43,427,875 (GRCm39) probably benign Het
Klk1b27 G A 7: 43,705,310 (GRCm39) W159* probably null Het
Mapk9 T C 11: 49,760,000 (GRCm39) Y105H probably damaging Het
Mmp7 A G 9: 7,697,947 (GRCm39) probably benign Het
Muc2 T C 7: 141,286,224 (GRCm39) I118T probably damaging Het
N4bp2l2 T C 5: 150,566,724 (GRCm39) N131D unknown Het
Nbea A C 3: 55,862,809 (GRCm39) S1814R probably benign Het
Nlrp9c G T 7: 26,081,837 (GRCm39) L630I probably benign Het
Or1j8 T C 2: 36,191,956 (GRCm39) V135A Het
Or6c76 T C 10: 129,612,521 (GRCm39) V261A probably damaging Het
Or8g27 G A 9: 39,128,831 (GRCm39) M59I probably damaging Het
Pbx3 C A 2: 34,114,629 (GRCm39) D102Y probably damaging Het
Pdia6 G A 12: 17,320,492 (GRCm39) V44I probably benign Het
Pkdcc G A 17: 83,528,471 (GRCm39) R280H probably damaging Het
Ppm1h A G 10: 122,638,264 (GRCm39) E178G probably benign Het
Prom1 C T 5: 44,172,161 (GRCm39) S619N probably benign Het
Prtg A C 9: 72,755,607 (GRCm39) I270L probably damaging Het
Rpl18a A C 8: 71,348,788 (GRCm39) Y63D probably benign Het
Rtl1 T A 12: 109,560,718 (GRCm39) M374L probably benign Het
Scaper A G 9: 55,819,400 (GRCm39) L105P unknown Het
Slc16a13 T A 11: 70,111,530 (GRCm39) probably benign Het
Slc6a13 A G 6: 121,313,044 (GRCm39) K487R probably benign Het
Slc7a11 T A 3: 50,332,082 (GRCm39) T459S probably benign Het
Smarcad1 A G 6: 65,075,649 (GRCm39) Q708R probably benign Het
Stat2 T C 10: 128,117,111 (GRCm39) probably null Het
Syde1 T C 10: 78,421,670 (GRCm39) H627R probably benign Het
Tas2r113 G A 6: 132,870,116 (GRCm39) R48H probably benign Het
Tbc1d16 T C 11: 119,038,626 (GRCm39) Y690C probably damaging Het
Tchh A T 3: 93,354,610 (GRCm39) H1350L unknown Het
Tex15 T A 8: 34,060,950 (GRCm39) Y127N possibly damaging Het
Thsd4 T C 9: 59,964,179 (GRCm39) T438A possibly damaging Het
Tubg1 A G 11: 101,015,099 (GRCm39) D216G probably benign Het
Tyk2 T C 9: 21,026,762 (GRCm39) D642G possibly damaging Het
Uqcc1 C T 2: 155,743,217 (GRCm39) probably null Het
Uvssa A C 5: 33,571,404 (GRCm39) K683Q probably damaging Het
Vmn1r59 A T 7: 5,457,166 (GRCm39) M198K probably benign Het
Zfp772 T A 7: 7,207,190 (GRCm39) H167L possibly damaging 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
R0433:Rfx6 UTSW 10 51,596,124 (GRCm39) missense probably damaging 1.00
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
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 PCR Primer
(F):5'- AGCATGTTGGTCTTAGCAGG -3'
(R):5'- ATCCTGAGCATGGAGGAAATCTG -3'

Sequencing Primer
(F):5'- CTTAGCAGGTCATTGAAAGTCCAGC -3'
(R):5'- GTAGCTGCAGGTCCTTAAACTCAG -3'
Posted On 2021-12-30