Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01779:Rfx1'

153905

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01779

Quality Score

Status

Chromosome

Chromosomal Location

84066834-84096992 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 84092662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147677 (fasta)

Gene Model

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

AlphaFold

P48377

Predicted Effect

probably benign
Transcript: ENSMUST00000005600

SMART Domains

Protein: ENSMUSP00000005600
Gene: ENSMUSG00000031706

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

noncoding transcript
Transcript: ENSMUST00000210660

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	T	5: 81,387,870	I119F	probably damaging	Het
Akt1	C	T	12: 112,657,169	G286R	probably damaging	Het
Apof	A	G	10: 128,269,477	I167V	probably benign	Het
Arhgap15	A	G	2: 44,065,045	E220G	possibly damaging	Het
Clca3a2	T	A	3: 144,819,378	Y31F	possibly damaging	Het
Clmn	T	C	12: 104,782,140	I383V	probably benign	Het
Cntnap5b	A	G	1: 99,967,339	D112G	probably damaging	Het
Col8a1	A	T	16: 57,628,363	H261Q	unknown	Het
Csmd3	A	T	15: 47,857,894	V1551D	probably benign	Het
Ddx60	G	A	8: 62,017,823	V1450M	possibly damaging	Het
Ethe1	A	T	7: 24,595,009	H79L	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gm11110	C	T	17: 57,102,087		probably benign	Het
Hs1bp3	C	T	12: 8,341,945	T349I	probably benign	Het
Ifna16	A	T	4: 88,676,645	I71N	probably damaging	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Kcnt1	T	A	2: 25,900,967	I511N	probably damaging	Het
Mlph	A	G	1: 90,942,950	M528V	probably benign	Het
Olfr646	A	G	7: 104,106,633	D118G	probably damaging	Het
Pprc1	T	A	19: 46,062,202	I52N	probably damaging	Het
Rnf17	A	T	14: 56,462,063	I553F	probably benign	Het
Scaper	A	T	9: 55,892,240	H180Q	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc30a10	A	T	1: 185,464,179	Q346L	possibly damaging	Het
Stambpl1	A	T	19: 34,240,027	H422L	possibly damaging	Het
Trim67	G	A	8: 124,828,121	G701R	probably damaging	Het
Vipr1	T	C	9: 121,664,630	F249S	probably damaging	Het
Vmn2r117	G	T	17: 23,477,241	D397E	probably benign	Het

Other mutations in Rfx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01612:Rfx1	APN	8	84092972	critical splice acceptor site	probably null
IGL02505:Rfx1	APN	8	84095809	missense	possibly damaging	0.79
IGL02741:Rfx1	APN	8	84095842	missense	possibly damaging	0.94
R1565:Rfx1	UTSW	8	84073946	missense	probably benign
R1793:Rfx1	UTSW	8	84066421	unclassified	probably benign
R1808:Rfx1	UTSW	8	84095048	missense	probably damaging	1.00
R1971:Rfx1	UTSW	8	84095497	missense	probably damaging	1.00
R4542:Rfx1	UTSW	8	84090237	missense	probably damaging	1.00
R4690:Rfx1	UTSW	8	84082745	missense	possibly damaging	0.50
R4995:Rfx1	UTSW	8	84080114	splice site	probably null
R5163:Rfx1	UTSW	8	84093211	missense	probably damaging	0.98
R5212:Rfx1	UTSW	8	84066592	unclassified	probably benign
R5227:Rfx1	UTSW	8	84074058	missense	probably damaging	0.99
R5401:Rfx1	UTSW	8	84066376	splice site	probably null
R5431:Rfx1	UTSW	8	84082720	nonsense	probably null
R5584:Rfx1	UTSW	8	84088077	splice site	probably null
R5693:Rfx1	UTSW	8	84073904	missense	unknown
R6210:Rfx1	UTSW	8	84093018	missense	probably damaging	1.00
R6715:Rfx1	UTSW	8	84095815	missense	possibly damaging	0.49
R6920:Rfx1	UTSW	8	84095488	missense	probably damaging	1.00
R7131:Rfx1	UTSW	8	84095079	missense	probably damaging	0.96
R7155:Rfx1	UTSW	8	84094826	missense	probably damaging	0.99
R7336:Rfx1	UTSW	8	84073756	start gained	probably benign
R7467:Rfx1	UTSW	8	84073913	missense	possibly damaging	0.86
R8105:Rfx1	UTSW	8	84087876	missense	possibly damaging	0.92
R8145:Rfx1	UTSW	8	84074028	missense	probably benign	0.06
R8261:Rfx1	UTSW	8	84092850	missense	probably benign	0.00
R8263:Rfx1	UTSW	8	84094854	missense	probably damaging	1.00
R8443:Rfx1	UTSW	8	84079886	missense	probably benign	0.00
R8680:Rfx1	UTSW	8	84091455	missense	possibly damaging	0.82
R9302:Rfx1	UTSW	8	84091033	missense	possibly damaging	0.50
R9473:Rfx1	UTSW	8	84093274	missense	probably damaging	0.96
R9766:Rfx1	UTSW	8	84087747	missense	probably damaging	1.00
Z1177:Rfx1	UTSW	8	84090277	missense	probably damaging	1.00

Posted On

2014-02-04