Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00548:Rfx3'

13810

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfx3

Ensembl Gene

ENSMUSG00000040929

Gene Name

regulatory factor X, 3 (influences HLA class II expression)

Synonyms

MRFX3, C230093O12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00548

Quality Score

Status

Chromosome

Chromosomal Location

27739121-27988566 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 27783586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046898] [ENSMUST00000165566] [ENSMUST00000172907] [ENSMUST00000173863] [ENSMUST00000174850]

AlphaFold

P48381

Predicted Effect

probably null
Transcript: ENSMUST00000046898

SMART Domains

Protein: ENSMUSP00000038760
Gene: ENSMUSG00000040929

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	1	140	6.3e-58	PFAM
Pfam:RFX_DNA_binding	150	235	6.9e-41	PFAM
low complexity region	274	283	N/A	INTRINSIC
internal_repeat_1	326	414	1.39e-5	PROSPERO
internal_repeat_1	439	527	1.39e-5	PROSPERO
low complexity region	649	664	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000165566

SMART Domains

Protein: ENSMUSP00000126313
Gene: ENSMUSG00000040929

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	4	138	9.7e-38	PFAM
Pfam:RFX_DNA_binding	181	258	6.2e-36	PFAM
low complexity region	299	308	N/A	INTRINSIC
internal_repeat_1	351	439	1.82e-5	PROSPERO
internal_repeat_1	464	552	1.82e-5	PROSPERO
low complexity region	674	689	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172498

Predicted Effect

probably null
Transcript: ENSMUST00000172907

SMART Domains

Protein: ENSMUSP00000134141
Gene: ENSMUSG00000040929

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	1	140	9.4e-58	PFAM
Pfam:RFX_DNA_binding	175	260	5.2e-41	PFAM
low complexity region	299	308	N/A	INTRINSIC
internal_repeat_1	351	439	1.82e-5	PROSPERO
internal_repeat_1	464	552	1.82e-5	PROSPERO
low complexity region	674	689	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173161

Predicted Effect

probably benign
Transcript: ENSMUST00000173863

SMART Domains

Protein: ENSMUSP00000133367
Gene: ENSMUSG00000040929

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	1	140	3.3e-58	PFAM
Pfam:RFX_DNA_binding	175	246	3.7e-24	PFAM
low complexity region	285	294	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000174850

SMART Domains

Protein: ENSMUSP00000133461
Gene: ENSMUSG00000040929

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	1	140	9.4e-58	PFAM
Pfam:RFX_DNA_binding	175	260	5.2e-41	PFAM
low complexity region	299	308	N/A	INTRINSIC
internal_repeat_1	351	439	1.82e-5	PROSPERO
internal_repeat_1	464	552	1.82e-5	PROSPERO
low complexity region	674	689	N/A	INTRINSIC

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, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null mice display embryonic and perinatal lethality, impaired development of cilia on the embryonic node, abnormal left-right patterning, meso- and dextrocardia, and situs inversus in surviving adults. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	A	G	4: 110,976,081 (GRCm39)	Y146C	probably damaging	Het
Dctn5	T	A	7: 121,743,019 (GRCm39)	C120*	probably null	Het
Ddah2	A	G	17: 35,279,607 (GRCm39)	D109G	possibly damaging	Het
Dgke	G	A	11: 88,946,197 (GRCm39)	T201I	probably benign	Het
Elmo1	A	G	13: 20,445,749 (GRCm39)	I146V	probably benign	Het
Fam98a	T	C	17: 75,845,813 (GRCm39)	E311G	probably damaging	Het
Herc2	T	A	7: 55,856,313 (GRCm39)	M3881K	probably benign	Het
Mroh2b	A	G	15: 4,960,798 (GRCm39)	K787E	probably benign	Het
Neb	A	G	2: 52,133,984 (GRCm39)	V3333A	probably benign	Het
Prkch	C	A	12: 73,749,585 (GRCm39)	Q393K	probably damaging	Het
Ubr5	T	C	15: 38,004,565 (GRCm39)	T1281A	probably benign	Het
Usp24	A	G	4: 106,198,495 (GRCm39)	T134A	probably damaging	Het

Other mutations in Rfx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Rfx3	APN	19	27,803,476 (GRCm39)	nonsense	probably null
IGL01408:Rfx3	APN	19	27,746,050 (GRCm39)	missense	probably benign	0.04
IGL01937:Rfx3	APN	19	27,808,129 (GRCm39)	missense	probably damaging	1.00
IGL02668:Rfx3	APN	19	27,793,014 (GRCm39)	splice site	probably benign
IGL02679:Rfx3	APN	19	27,827,137 (GRCm39)	missense	possibly damaging	0.95
R0267:Rfx3	UTSW	19	27,771,188 (GRCm39)	missense	probably benign	0.00
R0336:Rfx3	UTSW	19	27,783,662 (GRCm39)	missense	probably benign	0.00
R0838:Rfx3	UTSW	19	27,827,367 (GRCm39)	missense	possibly damaging	0.92
R0967:Rfx3	UTSW	19	27,783,751 (GRCm39)	splice site	probably benign
R1102:Rfx3	UTSW	19	27,845,000 (GRCm39)	missense	possibly damaging	0.51
R1507:Rfx3	UTSW	19	27,745,913 (GRCm39)	missense	probably benign	0.00
R2172:Rfx3	UTSW	19	27,792,894 (GRCm39)	nonsense	probably null
R2844:Rfx3	UTSW	19	27,784,186 (GRCm39)	splice site	probably benign
R2960:Rfx3	UTSW	19	27,878,211 (GRCm39)	nonsense	probably null
R4291:Rfx3	UTSW	19	27,777,632 (GRCm39)	missense	probably damaging	1.00
R4952:Rfx3	UTSW	19	27,808,072 (GRCm39)	missense	probably damaging	1.00
R5198:Rfx3	UTSW	19	27,808,176 (GRCm39)	missense	probably damaging	1.00
R5451:Rfx3	UTSW	19	27,827,359 (GRCm39)	missense	probably damaging	1.00
R5590:Rfx3	UTSW	19	27,779,780 (GRCm39)	critical splice donor site	probably null
R5641:Rfx3	UTSW	19	27,771,008 (GRCm39)	splice site	probably null
R5663:Rfx3	UTSW	19	27,771,017 (GRCm39)	missense	probably damaging	1.00
R5899:Rfx3	UTSW	19	27,808,165 (GRCm39)	missense	probably damaging	1.00
R6049:Rfx3	UTSW	19	27,779,795 (GRCm39)	missense	probably damaging	0.99
R6368:Rfx3	UTSW	19	27,746,009 (GRCm39)	missense	possibly damaging	0.92
R7131:Rfx3	UTSW	19	27,746,028 (GRCm39)	nonsense	probably null
R7273:Rfx3	UTSW	19	27,779,858 (GRCm39)	missense	probably damaging	1.00
R7593:Rfx3	UTSW	19	27,827,139 (GRCm39)	missense	probably benign	0.00
R7814:Rfx3	UTSW	19	27,803,470 (GRCm39)	missense	probably benign	0.01
R7815:Rfx3	UTSW	19	27,803,448 (GRCm39)	missense	probably benign	0.00
R8458:Rfx3	UTSW	19	27,771,072 (GRCm39)	missense	possibly damaging	0.71
R8995:Rfx3	UTSW	19	27,783,725 (GRCm39)	missense	probably benign	0.14
R9147:Rfx3	UTSW	19	27,878,207 (GRCm39)	missense	possibly damaging	0.84
R9148:Rfx3	UTSW	19	27,878,207 (GRCm39)	missense	possibly damaging	0.84
R9310:Rfx3	UTSW	19	27,827,329 (GRCm39)	missense	probably benign	0.00
Z1088:Rfx3	UTSW	19	27,814,850 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06