Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02609:Rfx2'

300421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfx2

Ensembl Gene

ENSMUSG00000024206

Gene Name

regulatory factor X, 2 (influences HLA class II expression)

Synonyms

5430432H19Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.764) question?

Stock #

IGL02609

Quality Score

Status

Chromosome

Chromosomal Location

56775897-56831008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56805404 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 43 (P43Q)

Ref Sequence

ENSEMBL: ENSMUSP00000084010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002444] [ENSMUST00000086801]

Predicted Effect

probably benign
Transcript: ENSMUST00000002444
AA Change: P43Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: P43Q

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	4	149	1.9e-50	PFAM
Pfam:RFX_DNA_binding	192	269	4.3e-36	PFAM
Blast:HisKA	479	542	1e-31	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000086801
AA Change: P43Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: P43Q

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	1	151	6.8e-56	PFAM
Pfam:RFX_DNA_binding	161	246	6e-41	PFAM
Blast:HisKA	454	517	1e-31	BLAST

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 is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter of the IL-5 receptor alpha gene. Two transcript variants encoding different isoforms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are viable and lack an obvious embryonic phenotype but exhibit male infertility associated with a defect in spermatid maturation at or before the round and elongating spermatid stage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,612,616	C29S	probably damaging	Het
A930011G23Rik	A	G	5: 99,233,995		probably benign	Het
Adcy10	T	G	1: 165,538,475	Y520*	probably null	Het
Agrn	A	T	4: 156,175,223		probably benign	Het
AI661453	A	T	17: 47,468,372		probably benign	Het
Arhgap6	A	G	X: 169,178,066		probably benign	Het
Asxl2	T	C	12: 3,500,018	S587P	probably damaging	Het
B3gntl1	A	G	11: 121,644,601		probably benign	Het
Bahcc1	T	C	11: 120,289,398	F2527L	possibly damaging	Het
Baz2b	T	A	2: 59,917,369	M1317L	possibly damaging	Het
Bcas3	A	T	11: 85,457,894	K204I	probably damaging	Het
C1qtnf1	T	C	11: 118,448,004	F167L	probably damaging	Het
Cfap58	C	T	19: 47,975,502	T523M	possibly damaging	Het
Ddb1	T	A	19: 10,622,466	C680S	possibly damaging	Het
Eef1d	T	C	15: 75,896,313	Q200R	probably null	Het
Gm10717	A	T	9: 3,026,287	Y195F	probably damaging	Het
Gm28557	T	A	13: 67,071,019	K214*	probably null	Het
Gm438	T	A	4: 144,779,737	D128V	probably damaging	Het
Gm8229	A	C	14: 44,366,625	E90D	probably benign	Het
Hhla1	T	C	15: 65,930,614		probably benign	Het
Hivep1	C	T	13: 42,155,654	H457Y	probably damaging	Het
Htr2c	T	C	X: 147,193,760		probably benign	Het
Ifi44	A	T	3: 151,732,497	S384R	probably damaging	Het
Impad1	T	A	4: 4,767,763	R338*	probably null	Het
Kirrel2	T	C	7: 30,448,340	T628A	probably benign	Het
Kmt2d	T	C	15: 98,851,793		probably benign	Het
Larp4b	T	A	13: 9,170,680	I655N	probably damaging	Het
Lrrd1	G	A	5: 3,858,803	V692I	probably benign	Het
Mum1	A	T	10: 80,230,083	E57V	probably damaging	Het
Nes	T	C	3: 87,977,221	I929T	probably benign	Het
Ogfr	T	C	2: 180,592,515		probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sh3tc1	T	C	5: 35,707,172	K495R	probably damaging	Het
Slit1	A	T	19: 41,602,304	C1310S	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stk35	T	C	2: 129,801,801	V235A	probably damaging	Het
Syde2	T	G	3: 145,998,520	V142G	probably benign	Het
Tgfb3	A	G	12: 86,077,839	F32L	probably benign	Het
Tmem35a	T	C	X: 134,304,697	F121L	probably damaging	Het
Trp53bp2	T	A	1: 182,453,724	D963E	probably benign	Het
Vmn1r26	A	G	6: 58,008,875	S110P	probably damaging	Het
Vpreb2	T	C	16: 17,980,694		probably benign	Het
Xrn2	A	T	2: 147,050,025	T721S	probably benign	Het

Other mutations in Rfx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Rfx2	APN	17	56783657	missense	probably damaging	1.00
IGL01296:Rfx2	APN	17	56808317	start codon destroyed	possibly damaging	0.81
IGL01488:Rfx2	APN	17	56805398	missense	probably damaging	1.00
IGL01705:Rfx2	APN	17	56785303	missense	possibly damaging	0.88
IGL02389:Rfx2	APN	17	56808325	splice site	probably benign
IGL02601:Rfx2	APN	17	56785354	missense	possibly damaging	0.75
R0066:Rfx2	UTSW	17	56786736	splice site	probably benign
R0066:Rfx2	UTSW	17	56786736	splice site	probably benign
R0197:Rfx2	UTSW	17	56803722	missense	probably damaging	0.99
R0370:Rfx2	UTSW	17	56799308	missense	probably benign	0.03
R0413:Rfx2	UTSW	17	56784418	splice site	probably benign
R0622:Rfx2	UTSW	17	56777071	missense	probably damaging	0.99
R0883:Rfx2	UTSW	17	56803722	missense	probably damaging	0.99
R1429:Rfx2	UTSW	17	56804369	missense	probably damaging	0.97
R1439:Rfx2	UTSW	17	56787720	missense	probably damaging	1.00
R1569:Rfx2	UTSW	17	56804326	missense	possibly damaging	0.63
R1654:Rfx2	UTSW	17	56808263	missense	probably benign	0.00
R1751:Rfx2	UTSW	17	56784754	missense	probably benign	0.01
R1816:Rfx2	UTSW	17	56808305	nonsense	probably null
R2282:Rfx2	UTSW	17	56803722	missense	probably damaging	0.99
R3408:Rfx2	UTSW	17	56803526	missense	probably benign	0.00
R3962:Rfx2	UTSW	17	56785302	missense	probably damaging	0.99
R4415:Rfx2	UTSW	17	56787733	missense	possibly damaging	0.95
R4876:Rfx2	UTSW	17	56784706	missense	probably benign	0.00
R4883:Rfx2	UTSW	17	56783747	missense	probably damaging	0.98
R5588:Rfx2	UTSW	17	56779890	missense	possibly damaging	0.69
R5766:Rfx2	UTSW	17	56803587	missense	probably benign	0.02
R5798:Rfx2	UTSW	17	56804362	missense	possibly damaging	0.89
R5931:Rfx2	UTSW	17	56780778	missense	probably damaging	0.99
R6061:Rfx2	UTSW	17	56777473	missense	possibly damaging	0.86
R6466:Rfx2	UTSW	17	56784397	missense	probably benign	0.13
R6800:Rfx2	UTSW	17	56780804	missense	probably damaging	0.99
R7329:Rfx2	UTSW	17	56803681	missense	probably benign	0.05
R7476:Rfx2	UTSW	17	56803527	missense	probably benign	0.31
R8159:Rfx2	UTSW	17	56803605	missense	probably benign	0.43
R8274:Rfx2	UTSW	17	56804348	missense	probably benign	0.00
R8838:Rfx2	UTSW	17	56780877	missense	possibly damaging	0.91

Posted On

2015-04-16