Mutagenetix > Incidental Mutations

Incidental Mutation 'R1439:Rfx2'

160884

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

039494-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R1439 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

56775897-56831008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56787720 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 208 (V208E)

Ref Sequence

ENSEMBL: ENSMUSP00000002444 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000002444
AA Change: V208E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: V208E

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 damaging
Transcript: ENSMUST00000086801
AA Change: V183E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: V183E

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

Meta Mutation Damage Score

0.9158

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.3%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	A	G	1: 89,843,186	N499S	probably damaging	Het
AI661453	C	A	17: 47,466,662		probably benign	Het
Akap1	C	A	11: 88,844,751	G362*	probably null	Het
Alkbh1	A	G	12: 87,429,145	V289A	probably damaging	Het
Bnc2	C	T	4: 84,276,068	E1035K	probably benign	Het
C1s2	T	A	6: 124,630,167		probably benign	Het
C530008M17Rik	T	C	5: 76,840,910	V36A	probably damaging	Het
Cabin1	A	G	10: 75,656,806	I1885T	probably damaging	Het
Col22a1	A	G	15: 71,952,377		probably benign	Het
Cpne4	A	T	9: 104,989,632	T248S	probably damaging	Het
Cubn	T	C	2: 13,287,568	N3268S	probably damaging	Het
Ddx10	T	A	9: 53,240,487	K79N	probably damaging	Het
Dennd1a	A	C	2: 38,043,400	L131R	probably damaging	Het
Dnah9	T	C	11: 65,874,132	Y3862C	probably benign	Het
Eif3e	A	G	15: 43,278,428		probably benign	Het
Emsy	T	C	7: 98,600,841		probably benign	Het
Ep400	A	T	5: 110,685,478	D1959E	unknown	Het
Fpr-rs7	A	G	17: 20,113,607	I207T	probably benign	Het
Fubp3	C	A	2: 31,598,551	L140I	probably damaging	Het
Gas2l2	T	C	11: 83,427,472	D137G	probably damaging	Het
Git1	G	T	11: 77,506,418	R699L	possibly damaging	Het
Gnao1	T	A	8: 93,963,437	F27L	probably benign	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Itga6	T	G	2: 71,834,034	Y505D	probably damaging	Het
Itgad	A	T	7: 128,183,006	T205S	probably benign	Het
Jakmip3	A	T	7: 139,029,646	Y574F	probably benign	Het
Laptm5	G	T	4: 130,926,209		probably benign	Het
Mlana	A	T	19: 29,706,852	R71S	probably benign	Het
Mroh2a	G	C	1: 88,257,802	E1510D	probably damaging	Het
Mus81	G	C	19: 5,485,117	R295G	probably benign	Het
Ncapd3	T	A	9: 27,087,566		probably null	Het
Nectin1	A	G	9: 43,792,099	E218G	possibly damaging	Het
Nectin3	A	T	16: 46,448,394	Y548*	probably null	Het
Nif3l1	T	C	1: 58,447,943	F96S	probably damaging	Het
Ntrk1	A	G	3: 87,789,611		probably null	Het
Obsl1	C	A	1: 75,486,784	E1755*	probably null	Het
Olfr1198	T	C	2: 88,746,834	E18G	possibly damaging	Het
Osbpl9	T	C	4: 109,101,156	D74G	probably damaging	Het
Osgin1	T	A	8: 119,443,113		probably null	Het
Otogl	A	G	10: 107,779,252	Y1931H	probably benign	Het
Pmepa1	A	G	2: 173,228,081	I227T	probably benign	Het
Pprc1	T	A	19: 46,063,736	N564K	possibly damaging	Het
Prkaa1	T	C	15: 5,164,744	F92S	probably damaging	Het
Ptprd	A	G	4: 76,066,200	F811L	probably damaging	Het
Rad54b	A	G	4: 11,606,152	K520R	possibly damaging	Het
Rbfox1	A	G	16: 7,330,433	T269A	possibly damaging	Het
Rfwd3	T	C	8: 111,278,288	Y554C	probably damaging	Het
Rgs22	G	T	15: 36,025,793		probably benign	Het
Rrbp1	A	G	2: 143,955,112		probably null	Het
Ryr2	C	T	13: 11,714,503		probably benign	Het
Sbno1	A	G	5: 124,384,460		probably benign	Het
Secisbp2	T	C	13: 51,679,723		probably benign	Het
Sgsm2	C	A	11: 74,869,138	R58L	probably benign	Het
Slc25a36	A	C	9: 97,093,073		probably benign	Het
Spink4	A	G	4: 40,929,121	T49A	possibly damaging	Het
Steap3	A	T	1: 120,227,820	F470I	probably damaging	Het
Stk10	A	G	11: 32,617,919	Q907R	probably damaging	Het
Tdrd5	A	G	1: 156,277,487	V446A	probably damaging	Het
Tmem117	G	A	15: 95,094,597	M379I	probably benign	Het
Trappc12	A	G	12: 28,747,161	L124P	possibly damaging	Het
Trim9	G	A	12: 70,251,093	H613Y	probably damaging	Het
Trio	A	G	15: 27,897,914	W371R	probably damaging	Het
Ulk4	G	C	9: 121,266,258	H110D	possibly damaging	Het
Upb1	T	C	10: 75,439,942	V387A	probably benign	Het
Utrn	A	T	10: 12,744,049	I284N	possibly damaging	Het
Vmn2r111	C	A	17: 22,571,116	W303L	probably benign	Het
Vmn2r15	G	T	5: 109,294,087	P160Q	probably damaging	Het
Wdtc1	A	G	4: 133,301,807	S323P	probably benign	Het
Zfp846	T	A	9: 20,594,097	C418S	possibly damaging	Het
Zfyve26	G	T	12: 79,252,163	P441Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGGGTCTCTGACATGGGAAG -3'
(R):5'- GCCATGACCTCTGCATACAGCC -3'

Sequencing Primer
(F):5'- CTGGCATGAGATGCAGGG -3'
(R):5'- ggtgggtgggatggatgg -3'

Posted On

2014-03-14