Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Rfx1'

296251

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfx1

Ensembl Gene

ENSMUSG00000031706

Gene Name

regulatory factor X, 1 (influences HLA class II expression)

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

84793463-84823621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84822438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 912 (E912G)

Ref Sequence

ENSEMBL: ENSMUSP00000005600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005600] [ENSMUST00000041367] [ENSMUST00000210279] [ENSMUST00000211046]

AlphaFold

P48377

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005600
AA Change: E912G

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000005600
Gene: ENSMUSG00000031706
AA Change: E912G

Domain	Start	End	E-Value	Type
low complexity region	11	47	N/A	INTRINSIC
low complexity region	53	67	N/A	INTRINSIC
low complexity region	73	92	N/A	INTRINSIC
Pfam:RFX1_trans_act	106	176	9.6e-9	PFAM
Pfam:RFX1_trans_act	211	366	1.8e-59	PFAM
Pfam:RFX_DNA_binding	420	498	2.5e-35	PFAM
Blast:HisKA	705	768	3e-28	BLAST
low complexity region	908	920	N/A	INTRINSIC
low complexity region	932	948	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041367

SMART Domains

Protein: ENSMUSP00000038568
Gene: ENSMUSG00000037103

Domain	Start	End	E-Value	Type
low complexity region	12	33	N/A	INTRINSIC
Pfam:DCAF15_WD40	48	259	1.1e-84	PFAM
low complexity region	275	294	N/A	INTRINSIC
low complexity region	343	359	N/A	INTRINSIC
low complexity region	374	384	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210279

Predicted Effect

probably benign
Transcript: ENSMUST00000211046

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,524,096 (GRCm39)	L68M	probably damaging	Het
Abca13	T	G	11: 9,531,498 (GRCm39)	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,076,105 (GRCm39)	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,395,166 (GRCm39)	A252E	probably damaging	Het
Ap1b1	C	T	11: 4,981,700 (GRCm39)	A536V	probably benign	Het
Arhgef3	A	G	14: 27,115,957 (GRCm39)	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,238,320 (GRCm39)	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,062,642 (GRCm39)	V622M	probably damaging	Het
Aup1	A	G	6: 83,032,258 (GRCm39)	T142A	probably benign	Het
Bcl6	A	T	16: 23,796,319 (GRCm39)	I36N	probably damaging	Het
Best1	A	G	19: 9,966,514 (GRCm39)	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759 (GRCm38)	Q1150P	probably damaging	Het
Capn5	T	A	7: 97,780,403 (GRCm39)	E322D	possibly damaging	Het
Cd300ld2	A	T	11: 114,904,513 (GRCm39)	M118K	probably benign	Het
Cdh9	T	C	15: 16,856,075 (GRCm39)	L705P	probably damaging	Het
Cep170b	T	G	12: 112,709,504 (GRCm39)	N436K	probably damaging	Het
Chil6	T	A	3: 106,313,278 (GRCm39)	I24F	probably benign	Het
Chmp2a	T	A	7: 12,767,782 (GRCm39)	K48*	probably null	Het
Col19a1	C	T	1: 24,339,665 (GRCm39)		probably benign	Het
Cops7b	C	A	1: 86,520,043 (GRCm39)	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,349,069 (GRCm39)	L133H	probably damaging	Het
Dkc1	T	C	X: 74,152,339 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,900,767 (GRCm39)	Y134H	probably damaging	Het
F8	C	A	X: 74,423,204 (GRCm39)		probably benign	Het
Fus	G	A	7: 127,580,679 (GRCm39)	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gm15821	T	C	17: 34,433,259 (GRCm39)		probably benign	Het
Gm5117	C	A	8: 32,228,344 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,152 (GRCm39)	I45V	probably benign	Het
Hectd1	A	G	12: 51,847,496 (GRCm39)		probably null	Het
Ifi204	T	C	1: 173,583,220 (GRCm39)	K333E	probably benign	Het
Ildr1	G	A	16: 36,536,526 (GRCm39)	G185D	probably damaging	Het
Itgb2	G	A	10: 77,383,052 (GRCm39)	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,214,331 (GRCm39)	D226Y	probably damaging	Het
Krt77	A	G	15: 101,769,381 (GRCm39)	L460P	probably damaging	Het
Lamp3	A	G	16: 19,474,207 (GRCm39)	I389T	possibly damaging	Het
Macroh2a1	A	G	13: 56,222,143 (GRCm39)	V336A	probably damaging	Het
Mars1	C	A	10: 127,140,113 (GRCm39)	E414*	probably null	Het
Mpg	T	C	11: 32,180,042 (GRCm39)	V190A	probably damaging	Het
Myh15	A	G	16: 48,937,626 (GRCm39)	I742M	possibly damaging	Het
Nell2	A	T	15: 95,194,144 (GRCm39)		probably benign	Het
Nmur1	T	C	1: 86,314,057 (GRCm39)	D370G	probably benign	Het
Npsr1	A	G	9: 24,009,578 (GRCm39)	E28G	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or56a3	A	T	7: 104,735,540 (GRCm39)	I206L	probably benign	Het
Or7a42	G	T	10: 78,791,767 (GRCm39)	V243F	probably benign	Het
Or8b12c	G	A	9: 37,715,627 (GRCm39)	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,128,899 (GRCm39)	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 110,359,848 (GRCm39)	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,907,139 (GRCm39)	K685N	probably damaging	Het
Prim1	T	A	10: 127,865,652 (GRCm39)	*419R	probably null	Het
Ptk2b	G	T	14: 66,391,692 (GRCm39)	N905K	probably damaging	Het
Rbm34	T	C	8: 127,676,071 (GRCm39)	I395V	probably benign	Het
Rngtt	T	C	4: 33,337,936 (GRCm39)	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,594,002 (GRCm39)	Y169H	possibly damaging	Het
Slc49a4	G	T	16: 35,555,928 (GRCm39)	D177E	probably benign	Het
Susd4	C	A	1: 182,719,645 (GRCm39)	T420K	probably benign	Het
Tdrd3	G	A	14: 87,749,118 (GRCm39)	G676D	probably damaging	Het
Tec	T	C	5: 72,946,587 (GRCm39)	K47E	probably damaging	Het
Tenm2	C	A	11: 35,942,743 (GRCm39)	G1308*	probably null	Het
Tmprss15	A	T	16: 78,784,629 (GRCm39)	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,096,346 (GRCm39)	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,710,378 (GRCm39)	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,261,449 (GRCm39)	T296K	probably damaging	Het
Wdr3	C	T	3: 100,059,290 (GRCm39)	S343N	probably benign	Het
Yju2	G	T	17: 56,269,051 (GRCm39)	G53V	probably damaging	Het
Zfp143	A	T	7: 109,690,993 (GRCm39)	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,580,626 (GRCm39)	I42V	probably benign	Het
Zswim5	A	T	4: 116,819,749 (GRCm39)	M385L	probably benign	Het

Other mutations in Rfx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01612:Rfx1	APN	8	84,819,601 (GRCm39)	critical splice acceptor site	probably null
IGL01779:Rfx1	APN	8	84,819,291 (GRCm39)	splice site	probably benign
IGL02741:Rfx1	APN	8	84,822,471 (GRCm39)	missense	possibly damaging	0.94
R1565:Rfx1	UTSW	8	84,800,575 (GRCm39)	missense	probably benign
R1793:Rfx1	UTSW	8	84,793,050 (GRCm39)	unclassified	probably benign
R1808:Rfx1	UTSW	8	84,821,677 (GRCm39)	missense	probably damaging	1.00
R1971:Rfx1	UTSW	8	84,822,126 (GRCm39)	missense	probably damaging	1.00
R4542:Rfx1	UTSW	8	84,816,866 (GRCm39)	missense	probably damaging	1.00
R4690:Rfx1	UTSW	8	84,809,374 (GRCm39)	missense	possibly damaging	0.50
R4995:Rfx1	UTSW	8	84,806,743 (GRCm39)	splice site	probably null
R5163:Rfx1	UTSW	8	84,819,840 (GRCm39)	missense	probably damaging	0.98
R5212:Rfx1	UTSW	8	84,793,221 (GRCm39)	unclassified	probably benign
R5227:Rfx1	UTSW	8	84,800,687 (GRCm39)	missense	probably damaging	0.99
R5401:Rfx1	UTSW	8	84,793,005 (GRCm39)	splice site	probably null
R5431:Rfx1	UTSW	8	84,809,349 (GRCm39)	nonsense	probably null
R5584:Rfx1	UTSW	8	84,814,706 (GRCm39)	splice site	probably null
R5693:Rfx1	UTSW	8	84,800,533 (GRCm39)	missense	unknown
R6210:Rfx1	UTSW	8	84,819,647 (GRCm39)	missense	probably damaging	1.00
R6715:Rfx1	UTSW	8	84,822,444 (GRCm39)	missense	possibly damaging	0.49
R6920:Rfx1	UTSW	8	84,822,117 (GRCm39)	missense	probably damaging	1.00
R7131:Rfx1	UTSW	8	84,821,708 (GRCm39)	missense	probably damaging	0.96
R7155:Rfx1	UTSW	8	84,821,455 (GRCm39)	missense	probably damaging	0.99
R7336:Rfx1	UTSW	8	84,800,385 (GRCm39)	start gained	probably benign
R7467:Rfx1	UTSW	8	84,800,542 (GRCm39)	missense	possibly damaging	0.86
R8105:Rfx1	UTSW	8	84,814,505 (GRCm39)	missense	possibly damaging	0.92
R8145:Rfx1	UTSW	8	84,800,657 (GRCm39)	missense	probably benign	0.06
R8261:Rfx1	UTSW	8	84,819,479 (GRCm39)	missense	probably benign	0.00
R8263:Rfx1	UTSW	8	84,821,483 (GRCm39)	missense	probably damaging	1.00
R8443:Rfx1	UTSW	8	84,806,515 (GRCm39)	missense	probably benign	0.00
R8680:Rfx1	UTSW	8	84,818,084 (GRCm39)	missense	possibly damaging	0.82
R9302:Rfx1	UTSW	8	84,817,662 (GRCm39)	missense	possibly damaging	0.50
R9473:Rfx1	UTSW	8	84,819,903 (GRCm39)	missense	probably damaging	0.96
R9766:Rfx1	UTSW	8	84,814,376 (GRCm39)	missense	probably damaging	1.00
Z1177:Rfx1	UTSW	8	84,816,906 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16