Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03403:Rfx8'

421491

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfx8

Ensembl Gene

ENSMUSG00000057173

Gene Name

regulatory factor X 8

Synonyms

4933400N17Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03403

Quality Score

Status

Chromosome

Chromosomal Location

39665301-39720997 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39690173 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 144 (D144G)

Ref Sequence

ENSEMBL: ENSMUSP00000121212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000151913]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126760

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151913
AA Change: D144G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: D144G

Domain	Start	End	E-Value	Type
Pfam:RFX_DNA_binding	17	94	6.5e-31	PFAM
Blast:DEXDc	301	358	4e-8	BLAST
low complexity region	445	467	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	C	15: 8,201,342	K1034N	probably damaging	Het
Adamts12	T	A	15: 11,241,488	I382N	probably damaging	Het
Adamts5	T	C	16: 85,863,014	T797A	probably damaging	Het
Ahr	A	T	12: 35,504,326	V598E	possibly damaging	Het
Akap10	A	G	11: 61,915,273	S210P	probably benign	Het
Asb5	G	T	8: 54,583,547		probably benign	Het
AU041133	T	C	10: 82,138,344	V31A	probably damaging	Het
Bcar3	T	C	3: 122,512,969	V197A	probably benign	Het
Bptf	A	G	11: 107,099,733	V510A	possibly damaging	Het
Ccar2	A	T	14: 70,140,068	D712E	probably damaging	Het
Cenpt	G	A	8: 105,849,665	Q85*	probably null	Het
Ciita	C	A	16: 10,503,872	H98N	probably damaging	Het
Csn1s1	T	A	5: 87,667,293	M16K	probably benign	Het
Fah	A	G	7: 84,593,209	I297T	probably damaging	Het
Fbxo25	A	G	8: 13,929,423	N214D	probably benign	Het
Frem3	A	C	8: 80,611,090	D4A	probably benign	Het
Gm12800	T	C	4: 101,909,928	S125P	probably benign	Het
Gm3409	A	G	5: 146,539,524	K162E	probably benign	Het
Gxylt1	T	C	15: 93,261,775	D148G	possibly damaging	Het
Hoxd4	A	T	2: 74,728,337	E168V	possibly damaging	Het
Ifna6	A	G	4: 88,827,458	S15G	possibly damaging	Het
Iqck	T	A	7: 118,876,271	H97Q	probably benign	Het
Kif16b	T	A	2: 142,711,869	E1003V	probably damaging	Het
Lrp1b	G	A	2: 40,702,824	P3761L	probably benign	Het
Mc4r	C	T	18: 66,859,526	C172Y	possibly damaging	Het
Olfr373	A	G	8: 72,100,497	T246A	probably benign	Het
Oosp1	T	A	19: 11,687,380	N104I	probably damaging	Het
Pram1	A	T	17: 33,642,143	I513F	probably damaging	Het
Rasef	A	G	4: 73,734,534	S577P	probably damaging	Het
Rreb1	A	C	13: 37,929,574	N303T	possibly damaging	Het
Rrn3	A	T	16: 13,799,945	K351*	probably null	Het
Sox30	A	T	11: 46,017,208	E734V	probably damaging	Het
Spns1	C	T	7: 126,371,536		probably null	Het
Tgfbr2	T	A	9: 116,110,302	E177D	probably benign	Het
Tnfaip8l3	A	G	9: 54,027,457	M78T	possibly damaging	Het
Vmn2r92	C	T	17: 18,166,852	T151I	probably damaging	Het
Wwc1	A	G	11: 35,915,284	Y41H	possibly damaging	Het
Zfp407	A	T	18: 84,560,797	N730K	probably damaging	Het

Other mutations in Rfx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Rfx8	APN	1	39682950	nonsense	probably null
IGL01659:Rfx8	APN	1	39670573	missense	probably damaging	1.00
IGL02239:Rfx8	APN	1	39680886	missense	probably benign	0.00
IGL02302:Rfx8	APN	1	39665522	missense	possibly damaging	0.50
IGL02332:Rfx8	APN	1	39718480	missense	possibly damaging	0.89
IGL02598:Rfx8	APN	1	39695968	splice site	probably benign
IGL02870:Rfx8	APN	1	39683711	missense	possibly damaging	0.94
PIT4515001:Rfx8	UTSW	1	39690105	missense	probably benign	0.04
R0060:Rfx8	UTSW	1	39718405	splice site	probably benign
R0095:Rfx8	UTSW	1	39685536	missense	possibly damaging	0.58
R0265:Rfx8	UTSW	1	39688577	missense	possibly damaging	0.67
R1892:Rfx8	UTSW	1	39670586	splice site	probably null
R2054:Rfx8	UTSW	1	39685559	missense	possibly damaging	0.92
R2960:Rfx8	UTSW	1	39682952	missense	probably damaging	1.00
R4554:Rfx8	UTSW	1	39680940	missense	probably benign	0.00
R5410:Rfx8	UTSW	1	39710156	critical splice donor site	probably null
R5496:Rfx8	UTSW	1	39670347	missense	probably benign	0.01
R5502:Rfx8	UTSW	1	39682953	missense	probably damaging	1.00
R5916:Rfx8	UTSW	1	39688619	missense	probably benign	0.20
R6238:Rfx8	UTSW	1	39670394	missense	probably damaging	0.96
R6360:Rfx8	UTSW	1	39680965	missense	probably benign
R7593:Rfx8	UTSW	1	39683678	missense	probably damaging	1.00
R7738:Rfx8	UTSW	1	39682931	missense	probably damaging	1.00
R8378:Rfx8	UTSW	1	39670421	missense	probably damaging	0.98
R8753:Rfx8	UTSW	1	39718440	missense	probably damaging	1.00
T0722:Rfx8	UTSW	1	39683612	missense	probably damaging	1.00
Z1088:Rfx8	UTSW	1	39682966	missense	possibly damaging	0.88

Posted On

2016-08-02