Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01639:Rfx6'

92931

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfx6

Ensembl Gene

ENSMUSG00000019900

Gene Name

regulatory factor X, 6

Synonyms

4930572O07Rik, Rfxdc1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01639

Quality Score

Status

Chromosome

Chromosomal Location

51553856-51606525 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 51592002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 133 (R133*)

Gene Model

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

AlphaFold

Q8C7R7

Predicted Effect

probably null
Transcript: ENSMUST00000050455
AA Change: R82*

SMART Domains

Protein: ENSMUSP00000057384
Gene: ENSMUSG00000019900
AA Change: R82*

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

Predicted Effect

probably null
Transcript: ENSMUST00000122922
AA Change: R346*

SMART Domains

Protein: ENSMUSP00000116057
Gene: ENSMUSG00000019900
AA Change: R346*

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
AA Change: R312*

Predicted Effect

probably null
Transcript: ENSMUST00000219771
AA Change: R133*

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calm4	T	A	13: 3,888,302 (GRCm39)	V136E	probably damaging	Het
Cnot8	A	T	11: 58,002,188 (GRCm39)	I74F	probably damaging	Het
Coq7	A	T	7: 118,124,527 (GRCm39)	V213D	probably damaging	Het
Itgae	A	G	11: 73,010,204 (GRCm39)	T565A	probably benign	Het
Lgi3	A	G	14: 70,770,825 (GRCm39)	I155V	probably benign	Het
Mbd5	A	G	2: 49,162,320 (GRCm39)	N42S	probably damaging	Het
Nherf4	T	A	9: 44,159,976 (GRCm39)	E381D	probably benign	Het
Or13a22	A	G	7: 140,073,099 (GRCm39)	I183V	probably benign	Het
Or2l13	T	C	16: 19,305,914 (GRCm39)	S109P	probably damaging	Het
Pals2	T	C	6: 50,155,460 (GRCm39)	I261T	probably damaging	Het
Pcnx1	T	C	12: 81,997,094 (GRCm39)		probably null	Het
Plekhg1	A	G	10: 3,906,751 (GRCm39)	E556G	probably damaging	Het
Rab1a	T	C	11: 20,173,185 (GRCm39)		probably benign	Het
Spata31d1c	T	C	13: 65,183,903 (GRCm39)	S482P	probably damaging	Het
Spire1	C	A	18: 67,678,738 (GRCm39)	A68S	possibly damaging	Het
Tmc1	G	A	19: 20,793,556 (GRCm39)	T535M	probably damaging	Het
Trip10	T	A	17: 57,561,165 (GRCm39)		probably benign	Het
Trp53bp1	A	C	2: 121,033,173 (GRCm39)	V1711G	possibly damaging	Het
Ubr4	G	T	4: 139,144,655 (GRCm39)	R1488L	probably damaging	Het
Vmn2r84	A	T	10: 130,225,141 (GRCm39)	Y456*	probably null	Het
Zc3h7a	T	C	16: 10,959,572 (GRCm39)	S794G	possibly damaging	Het
Zeb2	C	T	2: 44,887,269 (GRCm39)	S581N	probably benign	Het
Zfp292	G	A	4: 34,809,048 (GRCm39)	P1332L	probably benign	Het
Zfp641	A	G	15: 98,189,066 (GRCm39)	I131T	possibly 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
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
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

Posted On

2013-12-09