Mutagenetix > Incidental Mutation

Incidental Mutation 'R4791:Rfx6'

368599

Institutional Source

Beutler Lab

Gene Symbol

Rfx6

Ensembl Gene

ENSMUSG00000019900

Gene Name

regulatory factor X, 6

Synonyms

4930572O07Rik, Rfxdc1

MMRRC Submission

041976-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51553856-51606525 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 51596040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151430 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050455] [ENSMUST00000122922] [ENSMUST00000219364]

AlphaFold

Q8C7R7

Predicted Effect

probably null
Transcript: ENSMUST00000050455

SMART Domains

Protein: ENSMUSP00000057384
Gene: ENSMUSG00000019900

Domain	Start	End	E-Value	Type
Blast:HisKA	91	153	1e-7	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000122922

SMART Domains

Protein: ENSMUSP00000116057
Gene: ENSMUSG00000019900

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 null
Transcript: ENSMUST00000219364

Predicted Effect

probably benign
Transcript: ENSMUST00000219771

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,631,584 (GRCm39)	V1231M	probably benign	Het
Agl	A	G	3: 116,580,177 (GRCm39)		probably null	Het
Ak7	T	C	12: 105,676,404 (GRCm39)	F35L	probably benign	Het
Aldh1a1	A	G	19: 20,597,349 (GRCm39)	N110S	probably damaging	Het
Arhgef5	C	T	6: 43,260,117 (GRCm39)	L1368F	probably damaging	Het
Atp5mf	T	C	5: 145,121,365 (GRCm39)	Y72C	possibly damaging	Het
Atp6v0a2	T	G	5: 124,784,667 (GRCm39)	F317V	probably benign	Het
Bank1	A	T	3: 135,960,690 (GRCm39)	S56T	probably benign	Het
Cachd1	T	A	4: 100,775,282 (GRCm39)	C166S	probably damaging	Het
Cand1	A	G	10: 119,046,607 (GRCm39)	I961T	probably benign	Het
Ccdc73	G	A	2: 104,811,450 (GRCm39)		probably null	Het
Cct6b	A	T	11: 82,632,830 (GRCm39)		probably null	Het
Chd2	A	C	7: 73,118,325 (GRCm39)	S1098A	probably benign	Het
Col6a4	A	T	9: 105,957,401 (GRCm39)	V141E	possibly damaging	Het
Col6a5	T	C	9: 105,807,983 (GRCm39)	T1022A	unknown	Het
Cr2	A	T	1: 194,838,243 (GRCm39)	C698S	probably damaging	Het
Dnaaf5	C	A	5: 139,170,405 (GRCm39)	Q786K	possibly damaging	Het
Dnah6	T	C	6: 73,072,057 (GRCm39)	D2423G	probably benign	Het
Dnhd1	T	C	7: 105,370,324 (GRCm39)	F4583S	probably damaging	Het
Duoxa2	A	T	2: 122,131,679 (GRCm39)	T123S	probably damaging	Het
Edem1	T	G	6: 108,818,595 (GRCm39)	V201G	probably damaging	Het
Eef1d	C	T	15: 75,775,531 (GRCm39)	A43T	possibly damaging	Het
Elavl3	T	C	9: 21,935,974 (GRCm39)	K249E	probably damaging	Het
Epg5	G	T	18: 77,992,211 (GRCm39)	E303*	probably null	Het
Fam83h	T	C	15: 75,874,217 (GRCm39)	D1040G	probably damaging	Het
Fndc7	A	T	3: 108,783,975 (GRCm39)	F211L	probably benign	Het
Fsip2	A	G	2: 82,812,452 (GRCm39)	T2924A	possibly damaging	Het
Gm5616	T	C	9: 48,361,983 (GRCm39)		noncoding transcript	Het
Gpr135	T	A	12: 72,116,642 (GRCm39)	D375V	probably benign	Het
Hgd	A	G	16: 37,452,187 (GRCm39)	*446W	probably null	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Htra2	A	G	6: 83,028,798 (GRCm39)	L379P	probably damaging	Het
Hypk	G	T	2: 121,288,136 (GRCm39)		probably null	Het
Ica1l	A	G	1: 60,049,360 (GRCm39)	F198L	probably damaging	Het
Igsf11	G	A	16: 38,845,226 (GRCm39)	S319N	probably damaging	Het
Il12rb1	T	C	8: 71,266,012 (GRCm39)	S213P	possibly damaging	Het
Katnal1	C	T	5: 148,841,460 (GRCm39)	V135M	probably damaging	Het
Kcnc4	G	A	3: 107,354,859 (GRCm39)	P530S	probably benign	Het
Kcnu1	T	C	8: 26,403,780 (GRCm39)	Y24H	probably damaging	Het
Kdm5b	A	G	1: 134,558,538 (GRCm39)	E1515G	possibly damaging	Het
Kif18a	A	T	2: 109,118,220 (GRCm39)	M12L	probably benign	Het
Klre1	T	C	6: 129,561,118 (GRCm39)	S160P	probably damaging	Het
Lama2	A	T	10: 27,343,267 (GRCm39)	H68Q	probably damaging	Het
Lgals8	T	C	13: 12,468,203 (GRCm39)	K49R	possibly damaging	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Lsr	T	C	7: 30,657,977 (GRCm39)	T328A	probably damaging	Het
Mark4	C	T	7: 19,185,582 (GRCm39)	E51K	probably benign	Het
Mindy2	T	C	9: 70,541,283 (GRCm39)		probably null	Het
Mkks	G	A	2: 136,718,082 (GRCm39)	T400I	probably benign	Het
Mon2	T	A	10: 122,841,962 (GRCm39)	M1544L	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo5c	T	G	9: 75,198,198 (GRCm39)	L1341R	probably damaging	Het
Nin	T	C	12: 70,090,581 (GRCm39)	R945G	possibly damaging	Het
Nox4	T	C	7: 86,954,055 (GRCm39)	V120A	probably benign	Het
Or1s2	T	A	19: 13,758,706 (GRCm39)	C243*	probably null	Het
Or2aj4	G	T	16: 19,385,413 (GRCm39)	H73Q	possibly damaging	Het
Or2z2	A	T	11: 58,346,370 (GRCm39)	V135E	possibly damaging	Het
Or4a66	C	T	2: 88,531,242 (GRCm39)	V144I	probably benign	Het
Or7g29	T	C	9: 19,287,105 (GRCm39)	E24G	probably benign	Het
Plekha2	T	A	8: 25,532,778 (GRCm39)	R398W	probably damaging	Het
Pradc1	A	G	6: 85,424,173 (GRCm39)	W58R	probably damaging	Het
Pramel20	A	G	4: 143,297,559 (GRCm39)		probably benign	Het
Prrc2b	A	G	2: 32,107,351 (GRCm39)		probably null	Het
Psg19	T	A	7: 18,528,071 (GRCm39)	N224I	probably damaging	Het
Ranbp17	A	C	11: 33,437,746 (GRCm39)	V164G	probably benign	Het
Rasgrp3	A	G	17: 75,807,168 (GRCm39)	S211G	probably benign	Het
Rcc1l	G	A	5: 134,192,615 (GRCm39)	P270S	possibly damaging	Het
Rnf222	A	T	11: 68,783,845 (GRCm39)	E137D	probably damaging	Het
Selenof	T	G	3: 144,302,584 (GRCm39)	Y120D	probably damaging	Het
Sema3b	G	T	9: 107,481,012 (GRCm39)	D108E	probably damaging	Het
Shank3	T	A	15: 89,384,557 (GRCm39)	L143Q	probably damaging	Het
Shtn1	G	C	19: 59,039,305 (GRCm39)	R45G	probably damaging	Het
Sirt4	T	C	5: 115,618,373 (GRCm39)	T234A	possibly damaging	Het
Slc25a30	C	A	14: 76,000,806 (GRCm39)	W266L	probably benign	Het
Spata20	A	T	11: 94,375,412 (GRCm39)	N127K	probably damaging	Het
Spmip4	G	T	6: 50,572,817 (GRCm39)	P32Q	probably damaging	Het
St14	C	T	9: 31,006,918 (GRCm39)	G636D	probably benign	Het
Stat5a	G	A	11: 100,756,289 (GRCm39)	E170K	probably damaging	Het
Sugp2	C	T	8: 70,695,440 (GRCm39)	R138C	probably damaging	Het
Sult1e1	C	A	5: 87,734,589 (GRCm39)	W119L	possibly damaging	Het
Sv2a	T	C	3: 96,099,874 (GRCm39)	V608A	possibly damaging	Het
Syne2	T	C	12: 75,956,018 (GRCm39)	Y575H	possibly damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Thoc6	T	C	17: 23,889,041 (GRCm39)	H151R	possibly damaging	Het
Tm9sf2	T	C	14: 122,377,062 (GRCm39)	S197P	probably benign	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,749,451 (GRCm39)		probably benign	Het
Tmx2	G	A	2: 84,508,340 (GRCm39)	P15L	probably damaging	Het
Top1mt	C	T	15: 75,540,474 (GRCm39)		probably null	Het
Trpm6	T	A	19: 18,845,345 (GRCm39)	S1682T	probably benign	Het
Trrap	C	T	5: 144,740,087 (GRCm39)	R1171W	probably damaging	Het
Ugt3a1	A	G	15: 9,361,665 (GRCm39)	D147G	probably damaging	Het
Utp25	G	A	1: 192,810,575 (GRCm39)	H143Y	probably benign	Het
Vnn3	A	G	10: 23,740,519 (GRCm39)	H274R	probably benign	Het
Vwf	C	A	6: 125,620,326 (GRCm39)	T1668K		Het
Zfp568	T	C	7: 29,714,608 (GRCm39)	S162P	probably damaging	Het
Zfp658	T	A	7: 43,223,890 (GRCm39)	C722S	possibly damaging	Het
Zfp808	T	A	13: 62,319,045 (GRCm39)	H91Q	probably damaging	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
R4536:Rfx6	UTSW	10	51,599,880 (GRCm39)	missense	probably benign	0.16
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'- CAGATACACTGCTGATTACACTAAG -3'
(R):5'- CAAAAGATTACAGCCAGGTTAGC -3'

Sequencing Primer
(F):5'- TTCAAGGATATATCTTGGGTTCAAAG -3'
(R):5'- ACAGCCAGGTTAGCAATTTTTCTC -3'

Posted On

2016-02-04