Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00094:Rfx4'

1227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfx4

Ensembl Gene

ENSMUSG00000020037

Gene Name

regulatory factor X, 4 (influences HLA class II expression)

Synonyms

4933412G19Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00094

Quality Score

Status

Chromosome

Chromosomal Location

84756062-84906538 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84840199 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 44 (L44Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060397] [ENSMUST00000095388] [ENSMUST00000166696]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000020226

Predicted Effect

probably damaging
Transcript: ENSMUST00000060397
AA Change: L187Q

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

SMART Domains

Protein: ENSMUSP00000051107
Gene: ENSMUSG00000020037
AA Change: L187Q

Domain	Start	End	E-Value	Type
Pfam:RFX_DNA_binding	58	136	7.9e-37	PFAM
Blast:HisKA	293	356	5e-7	BLAST
low complexity region	503	515	N/A	INTRINSIC
low complexity region	521	537	N/A	INTRINSIC
low complexity region	599	611	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000095388
AA Change: L93Q

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

SMART Domains

Protein: ENSMUSP00000093035
Gene: ENSMUSG00000020037
AA Change: L93Q

Domain	Start	End	E-Value	Type
SCOP:d1kwha_	11	201	6e-3	SMART
Blast:HisKA	199	262	4e-7	BLAST
low complexity region	409	421	N/A	INTRINSIC
low complexity region	427	443	N/A	INTRINSIC
low complexity region	505	517	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000166696
AA Change: L44Q

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

SMART Domains

Protein: ENSMUSP00000128690
Gene: ENSMUSG00000020037
AA Change: L44Q

Domain	Start	End	E-Value	Type
Blast:HisKA	150	213	6e-7	BLAST
low complexity region	360	372	N/A	INTRINSIC
low complexity region	378	394	N/A	INTRINSIC
low complexity region	456	468	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, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
PHENOTYPE: Inactivating null allele or homozygous point mutation alleles exhibit missing dorsal midline structure of the cortex including the subcommissural organ and neonatal lethality. Heterozygous null mice have congenital hydrocephalus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	A	G	11: 101,990,820	E114G	possibly damaging	Het
Aacs	T	A	5: 125,514,190	N547K	probably benign	Het
Abca13	A	G	11: 9,297,443	T2397A	probably benign	Het
Abcc1	A	G	16: 14,470,534	N1341S	probably null	Het
Adcy9	T	A	16: 4,304,582	I535L	probably benign	Het
Akap6	A	G	12: 53,140,980	S1726G	possibly damaging	Het
Ap3d1	T	C	10: 80,741,979	M5V	probably benign	Het
Ash1l	T	A	3: 88,981,712	N299K	probably benign	Het
B3gnt2	C	T	11: 22,836,151	V346I	probably benign	Het
Ceacam14	G	A	7: 17,814,137	V51I	probably damaging	Het
Cfap69	T	C	5: 5,584,682	D812G	probably damaging	Het
Chrna9	T	C	5: 65,969,257	V118A	probably benign	Het
Cpsf7	A	G	19: 10,539,787	R418G	probably damaging	Het
Csnk1g3	T	C	18: 53,919,003	Y215H	probably damaging	Het
Dcaf5	A	C	12: 80,339,323	N676K	probably benign	Het
Dld	A	T	12: 31,335,577	M255K	probably benign	Het
Esr2	A	T	12: 76,133,896	L417H	probably damaging	Het
Fsip2	T	A	2: 82,990,386	S5488T	probably benign	Het
Gatb	A	T	3: 85,601,920	I130L	possibly damaging	Het
Gbp9	T	C	5: 105,081,264	K506E	probably benign	Het
Hkdc1	T	C	10: 62,393,789	N703S	probably damaging	Het
Itgb3	T	A	11: 104,633,584	V182E	probably damaging	Het
Itih4	A	T	14: 30,895,469	Y582F	probably damaging	Het
Lancl2	T	A	6: 57,724,537		probably benign	Het
Lgals3	A	G	14: 47,384,718	K197R	probably benign	Het
Lipe	T	C	7: 25,383,552	T767A	probably damaging	Het
Lrp2	T	A	2: 69,507,779	D1219V	probably damaging	Het
Lrriq3	T	A	3: 155,101,061	C116S	probably benign	Het
Mcm5	T	G	8: 75,124,945		probably null	Het
Mtpn	G	T	6: 35,522,776	T31K	probably damaging	Het
Mycbp2	A	T	14: 103,223,050	Y1494N	probably damaging	Het
Nbeal1	G	T	1: 60,235,191	E498*	probably null	Het
Nos1	T	G	5: 117,910,100	S657A	probably damaging	Het
Nr3c1	A	T	18: 39,428,608		probably null	Het
Olfr1126	T	A	2: 87,457,927	V254E	probably damaging	Het
Olfr1262	T	A	2: 90,003,021	I205N	possibly damaging	Het
Olfr1502	A	T	19: 13,861,786		probably benign	Het
Olfr281	T	G	15: 98,456,418	V36G	possibly damaging	Het
Olfr44	T	C	9: 39,484,648	I202V	probably benign	Het
Olfr45	A	T	7: 140,691,436	H177L	probably damaging	Het
Olfr851	T	A	9: 19,496,859	I37N	probably damaging	Het
Osbp2	T	G	11: 3,711,848	S735R	probably benign	Het
Otop3	A	T	11: 115,344,453	T304S	probably benign	Het
Pcdhac2	A	T	18: 37,145,075	L369F	probably damaging	Het
Pick1	T	C	15: 79,247,257		probably benign	Het
Prlhr	A	T	19: 60,467,681	V149E	probably damaging	Het
Prss12	G	A	3: 123,486,949		probably benign	Het
Rab19	A	T	6: 39,388,198		probably benign	Het
Ralgapb	T	C	2: 158,420,856	W5R	probably damaging	Het
Scube2	T	C	7: 109,808,454	T760A	probably damaging	Het
Shcbp1	A	C	8: 4,754,258	Y145*	probably null	Het
Snx31	T	A	15: 36,545,616		probably null	Het
Spopl	A	T	2: 23,537,631	V163E	possibly damaging	Het
Sqor	T	C	2: 122,787,543	I107T	probably damaging	Het
Tcte1	T	C	17: 45,534,928	F153L	probably damaging	Het
Tnfrsf11b	T	A	15: 54,259,842	H121L	probably damaging	Het
Tnip1	G	T	11: 54,940,817	Y10*	probably null	Het
Tnxb	G	T	17: 34,685,629	G1123C	probably damaging	Het
Wdr62	T	C	7: 30,243,523	E515G	probably benign	Het
Zfand1	A	T	3: 10,348,530	D32E	probably null	Het
Zfp112	A	C	7: 24,122,243	T3P	probably damaging	Het

Other mutations in Rfx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Rfx4	APN	10	84780053	missense	possibly damaging	0.91
IGL00928:Rfx4	APN	10	84840114	missense	probably benign	0.04
IGL01063:Rfx4	APN	10	84868382	missense	possibly damaging	0.90
IGL01490:Rfx4	APN	10	84840851	missense	possibly damaging	0.85
IGL02390:Rfx4	APN	10	84840150	missense	probably damaging	1.00
IGL02454:Rfx4	APN	10	84840106	missense	possibly damaging	0.83
R0099:Rfx4	UTSW	10	84894304	missense	probably benign
R0503:Rfx4	UTSW	10	84894332	missense	possibly damaging	0.56
R0924:Rfx4	UTSW	10	84868427	missense	probably damaging	1.00
R0930:Rfx4	UTSW	10	84868427	missense	probably damaging	1.00
R1386:Rfx4	UTSW	10	84863285	missense	probably damaging	1.00
R1715:Rfx4	UTSW	10	84844280	missense	probably damaging	1.00
R1738:Rfx4	UTSW	10	84880975	critical splice donor site	probably null
R1987:Rfx4	UTSW	10	84896088	missense	possibly damaging	0.87
R3717:Rfx4	UTSW	10	84880224	missense	probably damaging	1.00
R4231:Rfx4	UTSW	10	84814694	missense	probably benign	0.03
R4300:Rfx4	UTSW	10	84905102	missense	probably damaging	0.98
R4581:Rfx4	UTSW	10	84844300	missense	possibly damaging	0.93
R4582:Rfx4	UTSW	10	84844300	missense	possibly damaging	0.93
R4618:Rfx4	UTSW	10	84880896	missense	probably benign	0.01
R5156:Rfx4	UTSW	10	84868354	missense	probably damaging	1.00
R5185:Rfx4	UTSW	10	84863250	missense	probably damaging	1.00
R5377:Rfx4	UTSW	10	84860542	missense	possibly damaging	0.81
R5601:Rfx4	UTSW	10	84798578	missense	probably damaging	1.00
R5879:Rfx4	UTSW	10	84814761	critical splice donor site	probably null
R5996:Rfx4	UTSW	10	84840017	nonsense	probably null
R6358:Rfx4	UTSW	10	84844235	missense	probably damaging	1.00
R6805:Rfx4	UTSW	10	84840228	missense	possibly damaging	0.86
R7248:Rfx4	UTSW	10	84905055	missense	probably benign	0.05
R7427:Rfx4	UTSW	10	84896012	missense	probably benign	0.28
R7428:Rfx4	UTSW	10	84896012	missense	probably benign	0.28
R7514:Rfx4	UTSW	10	84880226	missense	probably damaging	1.00
R7576:Rfx4	UTSW	10	84863349	missense	probably damaging	0.98
R8002:Rfx4	UTSW	10	84840857	missense	probably damaging	0.97
RF010:Rfx4	UTSW	10	84858487	critical splice acceptor site	probably benign
RF014:Rfx4	UTSW	10	84858489	critical splice acceptor site	probably benign
RF015:Rfx4	UTSW	10	84858489	critical splice acceptor site	probably benign
RF023:Rfx4	UTSW	10	84858485	critical splice acceptor site	probably benign
RF030:Rfx4	UTSW	10	84858480	critical splice acceptor site	probably benign
RF035:Rfx4	UTSW	10	84858480	critical splice acceptor site	probably benign
RF046:Rfx4	UTSW	10	84858481	critical splice acceptor site	probably benign
RF060:Rfx4	UTSW	10	84858494	critical splice acceptor site	probably benign
RF062:Rfx4	UTSW	10	84858481	critical splice acceptor site	probably benign
X0024:Rfx4	UTSW	10	84780074	missense	possibly damaging	0.82
Z1177:Rfx4	UTSW	10	84814684	missense	possibly damaging	0.85
Z1177:Rfx4	UTSW	10	84896091	missense	probably benign	0.30

Posted On

2011-07-12