Mutagenetix > Incidental Mutation

Incidental Mutation 'R1709:Rfx6'

190340

Institutional Source

Beutler Lab

Gene Symbol

Rfx6

Ensembl Gene

ENSMUSG00000019900

Gene Name

regulatory factor X, 6

Synonyms

4930572O07Rik, Rfxdc1

MMRRC Submission

039742-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1709 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51553856-51606525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51554498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 113 (M113K)

Ref Sequence

ENSEMBL: ENSMUSP00000151430 (fasta)

Gene Model

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

AlphaFold

Q8C7R7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122922
AA Change: M113K

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116057
Gene: ENSMUSG00000019900
AA Change: M113K

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

noncoding transcript
Transcript: ENSMUST00000219017

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219364
AA Change: M113K

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,566,942 (GRCm39)	K152E	probably benign	Het
Adgrd1	T	C	5: 129,256,292 (GRCm39)	V641A	possibly damaging	Het
Adgrv1	A	T	13: 81,741,179 (GRCm39)	V95E	probably damaging	Het
Agbl5	G	A	5: 31,063,585 (GRCm39)	C872Y	probably damaging	Het
Aldh1a7	G	T	19: 20,693,316 (GRCm39)	T201K	probably damaging	Het
Aox1	C	T	1: 58,116,633 (GRCm39)	A788V	probably benign	Het
Apob	T	C	12: 8,059,306 (GRCm39)	V2563A	probably damaging	Het
Atcay	G	A	10: 81,049,065 (GRCm39)	T179I	probably damaging	Het
Atf5	A	T	7: 44,462,707 (GRCm39)	L139Q	probably benign	Het
Atp13a3	T	C	16: 30,134,659 (GRCm39)	T1205A	probably benign	Het
Atr	C	T	9: 95,753,129 (GRCm39)	T656I	probably benign	Het
Bloc1s3	T	C	7: 19,241,453 (GRCm39)	E25G	possibly damaging	Het
Brap	T	C	5: 121,803,353 (GRCm39)		probably null	Het
C6	G	T	15: 4,820,452 (GRCm39)	A488S	probably benign	Het
Ccin	T	C	4: 43,984,133 (GRCm39)	F180S	probably damaging	Het
Cd207	T	C	6: 83,649,818 (GRCm39)	I256V	possibly damaging	Het
Cdc42bpa	G	T	1: 179,894,789 (GRCm39)	C323F	probably damaging	Het
Cfap57	T	C	4: 118,428,901 (GRCm39)	T1022A	probably benign	Het
Cmtr2	A	T	8: 110,948,581 (GRCm39)	Q297L	probably benign	Het
Coro7	A	T	16: 4,452,305 (GRCm39)		probably null	Het
Cpsf2	T	A	12: 101,965,801 (GRCm39)	Y589N	probably damaging	Het
Cpxm2	T	C	7: 131,661,563 (GRCm39)	Y408C	probably damaging	Het
Crocc	A	G	4: 140,753,410 (GRCm39)		probably null	Het
Cryzl1	A	C	16: 91,509,124 (GRCm39)	F59C	probably damaging	Het
Csmd2	T	C	4: 128,389,988 (GRCm39)	V2241A	probably damaging	Het
Cxcl15	C	A	5: 90,949,275 (GRCm39)	H147N	unknown	Het
Dennd4a	A	G	9: 64,796,887 (GRCm39)	T860A	possibly damaging	Het
Dnah10	C	T	5: 124,837,155 (GRCm39)	P966L	probably damaging	Het
Dpp9	T	A	17: 56,501,431 (GRCm39)	M594L	probably benign	Het
Dspp	C	A	5: 104,323,590 (GRCm39)	N244K	probably damaging	Het
Efcab8	T	A	2: 153,656,290 (GRCm39)		probably null	Het
Elapor2	C	T	5: 9,490,726 (GRCm39)	R579*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fbxw17	A	G	13: 50,585,693 (GRCm39)	M299V	probably benign	Het
Fbxw7	T	A	3: 84,883,659 (GRCm39)	I530N	probably damaging	Het
Gp2	C	A	7: 119,050,808 (GRCm39)	D308Y	probably null	Het
Gpd2	G	A	2: 57,247,667 (GRCm39)	V537M	probably damaging	Het
Gpr18	T	A	14: 122,149,404 (GRCm39)	Y207F	probably damaging	Het
Grip1	A	T	10: 119,733,620 (GRCm39)	D20V	probably damaging	Het
Gzmf	A	C	14: 56,444,397 (GRCm39)	F59V	probably damaging	Het
H3c1	T	A	13: 23,945,964 (GRCm39)	I125F	probably damaging	Het
Igfn1	T	C	1: 135,883,311 (GRCm39)	I2732V	probably benign	Het
Ipo8	A	T	6: 148,684,226 (GRCm39)	D855E	probably benign	Het
Klrk1	A	T	6: 129,591,682 (GRCm39)		probably null	Het
Megf11	A	G	9: 64,602,694 (GRCm39)	Y876C	probably damaging	Het
Mettl8	G	T	2: 70,812,495 (GRCm39)	Q12K	probably benign	Het
Mrgprf	T	C	7: 144,861,954 (GRCm39)	F172S	probably benign	Het
Mycbp2	G	A	14: 103,461,852 (GRCm39)	T1432I	probably damaging	Het
Nek11	A	C	9: 105,225,260 (GRCm39)	L84R	probably damaging	Het
Nlrp1b	T	C	11: 71,092,099 (GRCm39)	E9G	probably benign	Het
Nrxn1	T	C	17: 90,344,615 (GRCm39)	I433V	probably damaging	Het
Nup153	A	G	13: 46,847,450 (GRCm39)	C660R	probably damaging	Het
Or1o11	T	A	17: 37,757,091 (GRCm39)	Y226*	probably null	Het
Or2a25	T	C	6: 42,889,078 (GRCm39)	V207A	possibly damaging	Het
Or4z4	G	T	19: 12,076,245 (GRCm39)	P253T	probably damaging	Het
Or5h26	T	A	16: 58,988,264 (GRCm39)	M81L	probably benign	Het
P2rx7	T	A	5: 122,808,528 (GRCm39)	N303K	possibly damaging	Het
Pank4	T	C	4: 155,054,504 (GRCm39)	L159P	probably damaging	Het
Pcdhb22	A	T	18: 37,651,553 (GRCm39)	H7L	probably benign	Het
Pdzd8	A	T	19: 59,289,771 (GRCm39)	I543N	probably benign	Het
Pramel25	T	C	4: 143,520,116 (GRCm39)	V120A	possibly damaging	Het
Prrc2b	C	A	2: 32,084,473 (GRCm39)	R313S	probably damaging	Het
Rbm12b1	T	C	4: 12,145,827 (GRCm39)	C600R	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rlf	A	T	4: 121,007,020 (GRCm39)	D653E	probably benign	Het
Rnf130	A	G	11: 49,978,213 (GRCm39)	D258G	possibly damaging	Het
Robo2	A	G	16: 73,753,411 (GRCm39)	V822A	possibly damaging	Het
Rps6kc1	G	T	1: 190,532,533 (GRCm39)	Q490K	possibly damaging	Het
Scn9a	T	C	2: 66,313,850 (GRCm39)	Y1945C	probably damaging	Het
Setd2	T	A	9: 110,378,925 (GRCm39)	D913E	probably benign	Het
Sfr1	G	T	19: 47,723,442 (GRCm39)	E315D	possibly damaging	Het
Smarca5	G	A	8: 81,435,849 (GRCm39)	R763*	probably null	Het
Sugct	A	C	13: 17,847,151 (GRCm39)	I44S	probably damaging	Het
Syce1l	A	G	8: 114,380,662 (GRCm39)		probably null	Het
Tbc1d8b	A	G	X: 138,634,829 (GRCm39)	I654V	probably benign	Het
Tcf23	T	A	5: 31,130,852 (GRCm39)	Y163*	probably null	Het
Terf2ip	TG	T	8: 112,738,238 (GRCm39)		probably null	Het
Tmem158	T	C	9: 123,088,950 (GRCm39)	S221G	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,205 (GRCm39)	T332A	probably benign	Het
Trappc4	T	C	9: 44,318,508 (GRCm39)	T31A	probably benign	Het
Trim27	T	C	13: 21,372,235 (GRCm39)		probably null	Het
Ttyh2	T	A	11: 114,599,301 (GRCm39)	L330Q	probably damaging	Het
Tubgcp3	A	T	8: 12,689,532 (GRCm39)	L578*	probably null	Het
Txndc11	C	A	16: 10,946,565 (GRCm39)	E83*	probably null	Het
Utp20	T	C	10: 88,585,159 (GRCm39)	K2635R	probably benign	Het
V1ra8	C	T	6: 90,180,304 (GRCm39)	T169I	probably damaging	Het
Vcl	G	A	14: 21,069,441 (GRCm39)	V706I	probably benign	Het
Vmn2r106	A	T	17: 20,499,373 (GRCm39)	D179E	probably benign	Het
Vmn2r80	T	C	10: 79,030,223 (GRCm39)	M683T	probably benign	Het
Xirp2	A	G	2: 67,340,215 (GRCm39)	I819V	probably benign	Het
Zfp735	T	C	11: 73,602,589 (GRCm39)	F511S	probably benign	Het
Zfp831	T	C	2: 174,487,683 (GRCm39)	V786A	probably benign	Het
Zfp992	T	A	4: 146,550,949 (GRCm39)	H223Q	probably benign	Het
Zfyve19	A	C	2: 119,041,300 (GRCm39)	Q72P	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
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

PCR Primer
(F):5'- TCCTTGGGTGCAAAGCAAGGTG -3'
(R):5'- ACCTGTGGCTTTAGCTTTTCGTCAG -3'

Sequencing Primer
(F):5'- CAAAGCAAGGTGGGTGTGG -3'
(R):5'- CGTCAGGGTCAGAATAGGTCTC -3'

Posted On

2014-05-14