Incidental Mutation 'R4536:Rfx6'
| ID |
333333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx6
|
| Ensembl Gene |
ENSMUSG00000019900 |
| Gene Name |
regulatory factor X, 6 |
| Synonyms |
4930572O07Rik, Rfxdc1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4536 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
51553856-51606525 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51599880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 542
(N542S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050455]
[ENSMUST00000122922]
[ENSMUST00000219364]
|
| AlphaFold |
Q8C7R7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050455
AA Change: N312S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000057384
Gene: ENSMUSG00000019900
AA Change: N312S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HisKA
|
91 |
153 |
1e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122922
AA Change: N576S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000116057
Gene: ENSMUSG00000019900
AA Change: N576S
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000219364
AA Change: N542S
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219771
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amot |
A |
G |
X: 144,263,138 (GRCm39) |
S398P |
probably benign |
Het |
| Arhgef17 |
G |
C |
7: 100,579,061 (GRCm39) |
S629C |
probably damaging |
Het |
| Atg5lrt |
G |
A |
10: 95,972,564 (GRCm39) |
A34T |
probably benign |
Het |
| Atp5if1 |
A |
C |
4: 132,260,870 (GRCm39) |
S4A |
possibly damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,849,091 (GRCm39) |
A1081V |
probably benign |
Het |
| Atr |
A |
G |
9: 95,756,471 (GRCm39) |
D867G |
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,972,113 (GRCm39) |
S206N |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,444,867 (GRCm39) |
|
probably null |
Het |
| Cetn1 |
T |
C |
18: 9,618,998 (GRCm39) |
E141G |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,385,781 (GRCm39) |
N269K |
probably damaging |
Het |
| Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,287,693 (GRCm39) |
Q241L |
possibly damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
| Gls2 |
G |
A |
10: 128,036,806 (GRCm39) |
V196I |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
| Klhl1 |
A |
C |
14: 96,374,019 (GRCm39) |
|
probably null |
Het |
| Mettl4 |
C |
A |
17: 95,042,933 (GRCm39) |
S301I |
possibly damaging |
Het |
| Mlxip |
G |
A |
5: 123,588,566 (GRCm39) |
D819N |
probably damaging |
Het |
| Or10d5 |
A |
T |
9: 39,861,731 (GRCm39) |
L112Q |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,772,424 (GRCm39) |
K440* |
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,591,044 (GRCm39) |
M996V |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,850 (GRCm39) |
S591G |
possibly damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,142,815 (GRCm39) |
C254S |
probably damaging |
Het |
| Sptbn2 |
C |
T |
19: 4,782,630 (GRCm39) |
A522V |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,666,825 (GRCm39) |
D509N |
probably damaging |
Het |
| Tango2 |
A |
G |
16: 18,142,219 (GRCm39) |
|
probably null |
Het |
| Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
| Trafd1 |
T |
C |
5: 121,517,746 (GRCm39) |
|
probably null |
Het |
| Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
| Tysnd1 |
G |
A |
10: 61,531,832 (GRCm39) |
W161* |
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,256,970 (GRCm39) |
M1088K |
probably benign |
Het |
|
| Other mutations in Rfx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
PCR Primer
(F):5'- CCACCAAAGCCTGTTTCCTATG -3'
(R):5'- ACTGTGCTGGAAAGTCTGTTAAG -3'
Sequencing Primer
(F):5'- GGAAAATATTATGCAGGAGTTTCCAG -3'
(R):5'- AAGGTGGTCTTTATTGATTCTCCAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation