Mutagenetix > Incidental Mutation

Incidental Mutation 'R7476:Rfx2'

579519

Institutional Source

Beutler Lab

Gene Symbol

Rfx2

Ensembl Gene

ENSMUSG00000024206

Gene Name

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

Synonyms

5430432H19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.749) question?

Stock #

R7476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56775897-56831008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56803527 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 153 (D153G)

Ref Sequence

ENSEMBL: ENSMUSP00000002444 (fasta)

Gene Model

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

AlphaFold

P48379

Predicted Effect

probably benign
Transcript: ENSMUST00000002444
AA Change: D153G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: D153G

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

possibly damaging
Transcript: ENSMUST00000086801
AA Change: D153G

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: D153G

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	T	6: 52,179,034	P27S	unknown	Het
Abi3bp	A	T	16: 56,614,746	K602*	probably null	Het
Adam29	G	T	8: 55,873,195	H75N	probably damaging	Het
Ajap1	C	T	4: 153,384,855	E373K	probably damaging	Het
Alg6	C	A	4: 99,743,876	H206N	probably damaging	Het
Alox5	A	T	6: 116,415,433	S376T	probably benign	Het
Arhgap19	A	T	19: 41,782,363	Y321N	probably benign	Het
Brip1	A	G	11: 86,157,808	V236A	probably benign	Het
C1ra	C	T	6: 124,522,699	P615S	probably damaging	Het
Ccdc69	C	T	11: 55,051,198	V161I	possibly damaging	Het
Chil5	G	A	3: 106,020,007	R163C	possibly damaging	Het
Cldnd1	A	G	16: 58,729,544	D30G	probably damaging	Het
Colca2	G	A	9: 51,277,600	A19V	possibly damaging	Het
Csmd1	A	G	8: 15,895,731	C3561R	probably damaging	Het
Daxx	T	G	17: 33,911,281	V90G	probably damaging	Het
Dgkg	T	A	16: 22,622,304		probably benign	Het
Dmrta2	A	G	4: 109,982,025	H323R	probably damaging	Het
Dysf	A	T	6: 84,064,896	T161S	probably benign	Het
Fat1	G	T	8: 45,031,274	R3183L	probably benign	Het
Fcho1	C	A	8: 71,713,546	D347Y	probably damaging	Het
Gm21798	T	C	15: 64,817,706	C5R	unknown	Het
Hmcn1	T	C	1: 150,580,267	R5301G	probably damaging	Het
Hoxd11	T	C	2: 74,684,115	F330L	probably damaging	Het
Lactbl1	A	G	4: 136,637,639	D434G	probably benign	Het
Lgals8	A	T	13: 12,448,481	N191K	probably damaging	Het
Lmod2	T	A	6: 24,597,921	Y13*	probably null	Het
Malrd1	T	C	2: 16,142,304	S1986P	unknown	Het
Map3k9	C	T	12: 81,743,808	D324N	probably damaging	Het
Mcmbp	C	A	7: 128,703,582	K487N	probably damaging	Het
Mrpl4	G	T	9: 21,002,771		probably benign	Het
Nectin2	T	C	7: 19,717,621	D496G	possibly damaging	Het
Nom1	T	C	5: 29,442,536	S590P	probably benign	Het
Noto	T	C	6: 85,425,499	F156L	probably damaging	Het
Nrf1	T	A	6: 30,116,272	D314E	probably damaging	Het
Nup93	T	C	8: 94,303,632	L373P	probably damaging	Het
Olfr1002	T	A	2: 85,648,168	Q51L	not run	Het
Olfr1168	A	T	2: 88,184,966	M30L	probably benign	Het
Olfr1205	A	G	2: 88,831,588	Q157R	probably benign	Het
Olfr1239	T	C	2: 89,417,499	K305E	possibly damaging	Het
Olfr1369-ps1	A	C	13: 21,116,021	I110L	probably benign	Het
Olfr1412	A	C	1: 92,589,264	R311S	probably benign	Het
Pclo	A	T	5: 14,521,331	K243N	probably damaging	Het
Pdgfra	T	A	5: 75,170,603	C290S	probably damaging	Het
Pnlip	G	A	19: 58,679,634		probably null	Het
Ptprm	A	T	17: 66,725,791	H1022Q	probably benign	Het
Rps6ka2	T	C	17: 7,271,633	F317L	probably damaging	Het
Rtl1	T	A	12: 109,591,105	E1433D	unknown	Het
Sarnp	A	G	10: 128,833,354	T27A	probably benign	Het
Shc3	A	T	13: 51,448,006	M295K	probably benign	Het
Slc1a3	T	A	15: 8,643,084	M304L	probably damaging	Het
Slco1a6	G	T	6: 142,103,001	T351K	possibly damaging	Het
Snrk	A	G	9: 122,157,222	N219S	probably damaging	Het
Spats2	T	A	15: 99,212,141	V473E	probably benign	Het
Stk35	T	C	2: 129,810,725	L382P	probably damaging	Het
Tbx10	T	C	19: 3,999,034	V315A	probably benign	Het
Tdpoz1	A	G	3: 93,670,775	L234P	probably damaging	Het
Ttn	T	G	2: 76,714,145	E32832D	probably benign	Het
Ttn	T	C	2: 76,771,186	Y18678C	probably damaging	Het
Ugt2a2	A	T	5: 87,474,494	M205K	probably damaging	Het
Utrn	C	A	10: 12,640,951	V2300L	probably benign	Het
Vmn1r175	T	C	7: 23,808,422	N260S	probably benign	Het
Vmn1r63	T	A	7: 5,803,001	I211L	probably benign	Het
Vmn1r83	A	G	7: 12,321,615	W172R	possibly damaging	Het
Xirp2	T	C	2: 67,510,634	L1073P	probably benign	Het
Zfp82	A	G	7: 30,056,172	V495A	possibly damaging	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
IGL02609:Rfx2	APN	17	56805404	missense	probably benign	0.00
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
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
R8964:Rfx2	UTSW	17	56786696	missense	probably damaging	1.00
R9663:Rfx2	UTSW	17	56780895	missense	possibly damaging	0.67
R9786:Rfx2	UTSW	17	56780890	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- ACAGGGCCCAATCCTAAAGG -3'
(R):5'- GGTGATGCTTTCTCTCCCACAG -3'

Sequencing Primer
(F):5'- GGCCCAATCCTAAAGGCCTTTG -3'
(R):5'- AGACCCTCAGCTTTACGCC -3'

Posted On

2019-10-07