Mutagenetix > Incidental Mutation

Incidental Mutation 'R5931:Rfx2'

461881

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

044126-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.747) question?

Stock #

R5931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57082897-57138013 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 57087778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 538 (R538C)

Ref Sequence

ENSEMBL: ENSMUSP00000002444 (fasta)

Gene Model

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

AlphaFold

P48379

Predicted Effect

probably damaging
Transcript: ENSMUST00000002444
AA Change: R538C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: R538C

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: R513C

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: R513C

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,896,096 (GRCm39)	R315W	probably damaging	Het
Atrn	A	T	2: 130,775,356 (GRCm39)	Y153F	possibly damaging	Het
C4b	A	G	17: 34,948,167 (GRCm39)	V1644A	probably damaging	Het
Carmil3	A	C	14: 55,736,397 (GRCm39)	K654T	probably damaging	Het
Cdh1	T	C	8: 107,392,964 (GRCm39)		probably null	Het
Chrna1	C	T	2: 73,398,444 (GRCm39)	V332M	probably benign	Het
Clca3a2	A	C	3: 144,797,886 (GRCm39)	V193G	possibly damaging	Het
Cyld	A	G	8: 89,456,470 (GRCm39)		probably null	Het
Dbt	A	T	3: 116,317,074 (GRCm39)	E83D	possibly damaging	Het
Deup1	T	C	9: 15,472,618 (GRCm39)	R471G	possibly damaging	Het
Dgcr2	T	A	16: 17,675,173 (GRCm39)	I188F	possibly damaging	Het
Dgkg	G	A	16: 22,376,788 (GRCm39)	R524*	probably null	Het
Dnaaf9	G	A	2: 130,656,109 (GRCm39)	T2M	probably damaging	Het
Dnah5	A	T	15: 28,453,425 (GRCm39)	R4399W	probably damaging	Het
Egflam	G	A	15: 7,273,338 (GRCm39)	T579I	possibly damaging	Het
Eif2b2	C	T	12: 85,269,561 (GRCm39)	T211I	probably damaging	Het
Ep400	A	G	5: 110,883,386 (GRCm39)		probably benign	Het
Ermp1	C	G	19: 29,593,129 (GRCm39)	A788P	probably benign	Het
Ern1	A	G	11: 106,317,699 (GRCm39)	S142P	possibly damaging	Het
Fbxo15	T	A	18: 84,999,250 (GRCm39)	C351S	probably damaging	Het
Fndc3a	A	T	14: 72,806,307 (GRCm39)	S444T	probably benign	Het
Gabra6	G	A	11: 42,198,268 (GRCm39)	T384M	probably benign	Het
Gpbp1l1	T	C	4: 116,447,457 (GRCm39)	V379A	probably benign	Het
Hook2	G	T	8: 85,722,375 (GRCm39)	E305*	probably null	Het
Hoxa3	G	A	6: 52,149,568 (GRCm39)	A21V	probably damaging	Het
Hs1bp3	C	A	12: 8,391,915 (GRCm39)	P339Q	probably benign	Het
Igha	T	A	12: 113,223,710 (GRCm39)	T49S	probably benign	Het
Klra4	C	T	6: 130,030,016 (GRCm39)	V190M	possibly damaging	Het
Lats2	A	G	14: 57,933,588 (GRCm39)	L843P	probably damaging	Het
Lcmt1	A	G	7: 123,020,839 (GRCm39)	T255A	probably benign	Het
Lpar6	A	G	14: 73,476,368 (GRCm39)	I110V	probably damaging	Het
Lrrtm4	A	G	6: 79,998,722 (GRCm39)	I44V	probably damaging	Het
Mcm3ap	T	C	10: 76,307,000 (GRCm39)	V371A	probably benign	Het
Muc20	A	T	16: 32,614,944 (GRCm39)	D144E	possibly damaging	Het
Nphp3	T	A	9: 103,897,945 (GRCm39)	D417E	probably damaging	Het
Or7g33	A	T	9: 19,448,629 (GRCm39)	I199K	probably benign	Het
Or8b40	A	G	9: 38,027,670 (GRCm39)	I193V	probably benign	Het
Paqr7	A	C	4: 134,235,031 (GRCm39)	Y296S	probably damaging	Het
Pcdha4	A	T	18: 37,087,808 (GRCm39)	T664S	probably damaging	Het
Pelo	T	A	13: 115,225,379 (GRCm39)	Y282F	probably benign	Het
Plxna2	A	T	1: 194,493,178 (GRCm39)	I1818F	probably damaging	Het
Pnkd	A	G	1: 74,389,833 (GRCm39)	D319G	probably benign	Het
Pnma8a	C	A	7: 16,694,809 (GRCm39)	N221K	probably benign	Het
Ppp1cb	T	A	5: 32,640,810 (GRCm39)		probably null	Het
Prkca	T	G	11: 107,905,136 (GRCm39)	I201L	probably benign	Het
Prp2rt	A	G	13: 97,235,705 (GRCm39)	L14S	probably benign	Het
Rph3a	T	C	5: 121,101,936 (GRCm39)	Q100R	probably damaging	Het
Rtel1	C	T	2: 180,972,608 (GRCm39)	R29*	probably null	Het
Scel	T	A	14: 103,843,060 (GRCm39)	Y547*	probably null	Het
Sp100	C	T	1: 85,606,804 (GRCm39)	P303L	probably damaging	Het
Stk31	A	G	6: 49,446,236 (GRCm39)	S958G	probably benign	Het
Syne2	T	A	12: 76,055,639 (GRCm39)	V4168E	probably benign	Het
Tenm3	A	T	8: 49,099,533 (GRCm39)	S91T	probably benign	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,285,493 (GRCm39)		probably benign	Het
Tmem248	T	A	5: 130,258,349 (GRCm39)	I14N	probably damaging	Het
Tor3a	T	C	1: 156,484,057 (GRCm39)	I298V	probably benign	Het
Trim69	A	T	2: 122,009,075 (GRCm39)	K378N	probably damaging	Het
Ttc28	C	T	5: 111,232,975 (GRCm39)	P151S	possibly damaging	Het
Uaca	T	C	9: 60,779,294 (GRCm39)	V1225A	probably damaging	Het
Vps4b	T	C	1: 106,705,065 (GRCm39)	I343V	probably benign	Het
Wnk4	A	G	11: 101,152,047 (GRCm39)	T184A	probably damaging	Het
Ythdc2	T	A	18: 45,006,023 (GRCm39)	I1172K	possibly damaging	Het

Other mutations in Rfx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Rfx2	APN	17	57,090,657 (GRCm39)	missense	probably damaging	1.00
IGL01296:Rfx2	APN	17	57,115,317 (GRCm39)	start codon destroyed	possibly damaging	0.81
IGL01488:Rfx2	APN	17	57,112,398 (GRCm39)	missense	probably damaging	1.00
IGL01705:Rfx2	APN	17	57,092,303 (GRCm39)	missense	possibly damaging	0.88
IGL02389:Rfx2	APN	17	57,115,325 (GRCm39)	splice site	probably benign
IGL02601:Rfx2	APN	17	57,092,354 (GRCm39)	missense	possibly damaging	0.75
IGL02609:Rfx2	APN	17	57,112,404 (GRCm39)	missense	probably benign	0.00
R0066:Rfx2	UTSW	17	57,093,736 (GRCm39)	splice site	probably benign
R0066:Rfx2	UTSW	17	57,093,736 (GRCm39)	splice site	probably benign
R0197:Rfx2	UTSW	17	57,110,722 (GRCm39)	missense	probably damaging	0.99
R0370:Rfx2	UTSW	17	57,106,308 (GRCm39)	missense	probably benign	0.03
R0413:Rfx2	UTSW	17	57,091,418 (GRCm39)	splice site	probably benign
R0622:Rfx2	UTSW	17	57,084,071 (GRCm39)	missense	probably damaging	0.99
R0883:Rfx2	UTSW	17	57,110,722 (GRCm39)	missense	probably damaging	0.99
R1429:Rfx2	UTSW	17	57,111,369 (GRCm39)	missense	probably damaging	0.97
R1439:Rfx2	UTSW	17	57,094,720 (GRCm39)	missense	probably damaging	1.00
R1569:Rfx2	UTSW	17	57,111,326 (GRCm39)	missense	possibly damaging	0.63
R1654:Rfx2	UTSW	17	57,115,263 (GRCm39)	missense	probably benign	0.00
R1751:Rfx2	UTSW	17	57,091,754 (GRCm39)	missense	probably benign	0.01
R1816:Rfx2	UTSW	17	57,115,305 (GRCm39)	nonsense	probably null
R2282:Rfx2	UTSW	17	57,110,722 (GRCm39)	missense	probably damaging	0.99
R3408:Rfx2	UTSW	17	57,110,526 (GRCm39)	missense	probably benign	0.00
R3962:Rfx2	UTSW	17	57,092,302 (GRCm39)	missense	probably damaging	0.99
R4415:Rfx2	UTSW	17	57,094,733 (GRCm39)	missense	possibly damaging	0.95
R4876:Rfx2	UTSW	17	57,091,706 (GRCm39)	missense	probably benign	0.00
R4883:Rfx2	UTSW	17	57,090,747 (GRCm39)	missense	probably damaging	0.98
R5588:Rfx2	UTSW	17	57,086,890 (GRCm39)	missense	possibly damaging	0.69
R5766:Rfx2	UTSW	17	57,110,587 (GRCm39)	missense	probably benign	0.02
R5798:Rfx2	UTSW	17	57,111,362 (GRCm39)	missense	possibly damaging	0.89
R6061:Rfx2	UTSW	17	57,084,473 (GRCm39)	missense	possibly damaging	0.86
R6466:Rfx2	UTSW	17	57,091,397 (GRCm39)	missense	probably benign	0.13
R6800:Rfx2	UTSW	17	57,087,804 (GRCm39)	missense	probably damaging	0.99
R7329:Rfx2	UTSW	17	57,110,681 (GRCm39)	missense	probably benign	0.05
R7476:Rfx2	UTSW	17	57,110,527 (GRCm39)	missense	probably benign	0.31
R8159:Rfx2	UTSW	17	57,110,605 (GRCm39)	missense	probably benign	0.43
R8274:Rfx2	UTSW	17	57,111,348 (GRCm39)	missense	probably benign	0.00
R8838:Rfx2	UTSW	17	57,087,877 (GRCm39)	missense	possibly damaging	0.91
R8964:Rfx2	UTSW	17	57,093,696 (GRCm39)	missense	probably damaging	1.00
R9663:Rfx2	UTSW	17	57,087,895 (GRCm39)	missense	possibly damaging	0.67
R9786:Rfx2	UTSW	17	57,087,890 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- CTGTGACCAGACCTCAGACTTTC -3'
(R):5'- TGCTATCCTGAGTCTCCACAG -3'

Sequencing Primer
(F):5'- GACCAGACCTCAGACTTTCCATTG -3'
(R):5'- CATGTGTACACGTGTGCAAG -3'

Posted On

2017-02-28