Mutagenetix > Incidental Mutation

Incidental Mutation 'R6800:Rfx2'

533307

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

044913-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.747) question?

Stock #

R6800 (G1)

Quality Score

201.009

Status

Validated

Chromosome

Chromosomal Location

57082897-57138013 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57087804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 529 (I529T)

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: I529T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206
AA Change: I529T

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: I504T

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206
AA Change: I504T

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: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	G	A	13: 60,992,948 (GRCm39)	P244S	probably damaging	Het
9130023H24Rik	C	A	7: 127,836,742 (GRCm39)		probably benign	Het
Acoxl	A	T	2: 127,852,085 (GRCm39)	Q129L	probably damaging	Het
Akna	T	C	4: 63,316,268 (GRCm39)	T32A	probably benign	Het
Alox15	C	T	11: 70,235,645 (GRCm39)		probably null	Het
Antxrl	T	C	14: 33,787,864 (GRCm39)	S296P	probably damaging	Het
Arrb2	G	T	11: 70,328,142 (GRCm39)	G52*	probably null	Het
Bltp2	T	C	11: 78,179,105 (GRCm39)	F2091S	probably benign	Het
Capn2	A	T	1: 182,309,045 (GRCm39)	I499N	probably damaging	Het
Cfhr4	T	A	1: 139,629,719 (GRCm39)	D683V	possibly damaging	Het
Cspg4b	T	A	13: 113,504,686 (GRCm39)	D396E	probably benign	Het
Cubn	T	A	2: 13,326,066 (GRCm39)	I2700F	probably damaging	Het
Cypt4	A	T	9: 24,536,965 (GRCm39)	N152Y	probably benign	Het
Dmxl2	T	C	9: 54,316,467 (GRCm39)	N1640D	probably damaging	Het
Dnah7b	A	T	1: 46,379,377 (GRCm39)	N3704Y	possibly damaging	Het
Dnah9	A	G	11: 65,963,565 (GRCm39)		probably null	Het
Elac2	G	A	11: 64,890,265 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,433,029 (GRCm39)		probably null	Het
Espnl	T	C	1: 91,270,351 (GRCm39)	V386A	probably damaging	Het
Fbxl6	T	A	15: 76,422,898 (GRCm39)		probably benign	Het
Fdps	A	C	3: 89,008,068 (GRCm39)	F17V	probably damaging	Het
Gigyf2	T	C	1: 87,346,898 (GRCm39)	I576T	possibly damaging	Het
Gm20939	A	G	17: 95,184,657 (GRCm39)	E435G	possibly damaging	Het
Hivep1	G	A	13: 42,310,852 (GRCm39)	V1031I	probably damaging	Het
Hydin	T	G	8: 111,324,603 (GRCm39)	S4655A	probably benign	Het
Ifrd1	T	A	12: 40,273,157 (GRCm39)		probably benign	Het
Iqgap1	G	T	7: 80,378,729 (GRCm39)	T1219K	possibly damaging	Het
Lmtk3	G	A	7: 45,443,233 (GRCm39)	E639K	possibly damaging	Het
Map3k5	A	G	10: 20,017,326 (GRCm39)	*1373W	probably null	Het
Mia2	G	A	12: 59,235,332 (GRCm39)		probably null	Het
Micu2	T	C	14: 58,156,896 (GRCm39)	D313G	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,371 (GRCm39)	S77P	probably damaging	Het
Mrpl51	T	C	6: 125,169,367 (GRCm39)	V17A	probably benign	Het
Neurod4	A	T	10: 130,106,661 (GRCm39)	Y204*	probably null	Het
Or2n1	A	G	17: 38,486,013 (GRCm39)	I13V	probably benign	Het
Or56a42-ps1	A	T	7: 104,776,217 (GRCm39)	V97E	probably benign	Het
Or5p67	G	A	7: 107,922,460 (GRCm39)	T141I	probably benign	Het
Or6c66b	A	T	10: 129,377,132 (GRCm39)	H242L	probably damaging	Het
Pate2	T	C	9: 35,596,941 (GRCm39)		probably benign	Het
Pcdhgb8	G	A	18: 37,896,580 (GRCm39)	R550Q	probably benign	Het
Phldb3	T	C	7: 24,323,577 (GRCm39)	L437P	possibly damaging	Het
Pianp	C	A	6: 124,978,565 (GRCm39)	P257T	possibly damaging	Het
Rbbp6	T	A	7: 122,584,287 (GRCm39)	H140Q	possibly damaging	Het
Rnf113a1	A	C	X: 36,455,840 (GRCm39)	T266P	probably benign	Het
Rp1l1	T	C	14: 64,268,599 (GRCm39)	I1395T	possibly damaging	Het
Rps6ka2	A	C	17: 7,519,035 (GRCm39)	K186Q	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtel1	C	A	2: 180,964,256 (GRCm39)	T85N	probably benign	Het
Rtn4rl2	T	C	2: 84,710,967 (GRCm39)	N99S	probably damaging	Het
Ryr1	C	T	7: 28,723,741 (GRCm39)	G4106D	possibly damaging	Het
Scgb2b24	A	G	7: 33,437,894 (GRCm39)	V71A	probably benign	Het
Sgip1	A	G	4: 102,778,225 (GRCm39)		probably benign	Het
Slc12a4	G	A	8: 106,676,371 (GRCm39)	T515I	probably damaging	Het
Spag1	C	T	15: 36,197,895 (GRCm39)	R286*	probably null	Het
Strbp	C	T	2: 37,515,228 (GRCm39)	R266Q	probably damaging	Het
Strn	G	T	17: 78,977,787 (GRCm39)		probably benign	Het
Thnsl2	C	A	6: 71,118,264 (GRCm39)	V55L	probably benign	Het
Tmem178b	A	T	6: 40,231,858 (GRCm39)	Q164L	unknown	Het
Tmprss6	C	T	15: 78,324,457 (GRCm39)	R786H	probably damaging	Het
Ttc21a	T	A	9: 119,770,268 (GRCm39)	L113Q	possibly damaging	Het
Ttc21b	T	C	2: 66,038,994 (GRCm39)		probably null	Het
Vmn2r51	T	C	7: 9,832,191 (GRCm39)	D465G	probably damaging	Het
Vmp1	A	C	11: 86,556,913 (GRCm39)		probably null	Het
Wdcp	T	C	12: 4,901,358 (GRCm39)	F405L	probably damaging	Het
Zfhx3	A	T	8: 109,676,149 (GRCm39)	T2400S	probably benign	Het
Zfp27	T	C	7: 29,593,860 (GRCm39)	T702A	probably benign	Het
Zfp87	T	C	13: 74,520,080 (GRCm39)	S333G	probably benign	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
R5931:Rfx2	UTSW	17	57,087,778 (GRCm39)	missense	probably damaging	0.99
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
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'- CAGACCTCAGACTTTCCATTGC -3'
(R):5'- TGCTATCCTGAGTCTCCACAG -3'

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

Posted On

2018-09-12