Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Rfx8'

513043

Institutional Source

Beutler Lab

Gene Symbol

Rfx8

Ensembl Gene

ENSMUSG00000057173

Gene Name

regulatory factor X 8

Synonyms

4933400N17Rik

MMRRC Submission

044510-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39665301-39720997 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39680965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 317 (I317V)

Ref Sequence

ENSEMBL: ENSMUSP00000121212 (fasta)

Gene Model

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

AlphaFold

D3YU81

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126760

Predicted Effect

probably benign
Transcript: ENSMUST00000151913
AA Change: I317V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: I317V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,259,202	Q657*	probably null	Het
Car15	T	C	16: 17,838,066	T560A	probably benign	Het
Cass4	C	T	2: 172,432,611	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,460	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,438,429	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,431,736	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,597,455		probably null	Het
Dab2ip	A	G	2: 35,710,266	H355R	probably benign	Het
Dennd2a	C	T	6: 39,493,142	A539T	probably benign	Het
Dnajc18	T	C	18: 35,686,709	E173G	probably damaging	Het
Dock7	T	C	4: 98,969,662	I1472V	probably benign	Het
Esco1	A	T	18: 10,574,931	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619	H73P	probably damaging	Het
Fam46b	T	C	4: 133,486,756	F313L	probably damaging	Het
Flg	A	G	3: 93,290,601		probably benign	Het
Fyn	C	A	10: 39,526,883	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,083,730	D330G	probably benign	Het
Gin1	T	C	1: 97,792,539	S509P	possibly damaging	Het
Gm15922	A	T	7: 3,736,504	L455Q	probably damaging	Het
Gm17067	A	C	7: 42,708,482	S199A	probably benign	Het
Grk4	A	T	5: 34,674,537	K50M	probably damaging	Het
Inpp4b	A	G	8: 81,902,852	H272R	probably benign	Het
Ipo7	T	A	7: 110,027,129	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,779,206	I515T	probably damaging	Het
Kcnu1	T	A	8: 25,861,180	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,173,270	N336S	probably benign	Het
Lbr	G	T	1: 181,832,155	D158E	probably benign	Het
Mphosph10	T	C	7: 64,389,955	Q89R	probably benign	Het
Nectin3	T	A	16: 46,411,109	T21S	probably benign	Het
Numb	C	A	12: 83,797,262	R383L	probably damaging	Het
Olfr1370	A	T	13: 21,072,583	N239K	probably damaging	Het
Olfr461	G	T	6: 40,544,713	Q89K	possibly damaging	Het
Park2	T	C	17: 12,004,052	F363S	probably damaging	Het
Pcdhb11	A	T	18: 37,422,159	I181F	probably benign	Het
Pcgf2	T	A	11: 97,692,409		probably null	Het
Pdzd8	T	C	19: 59,300,983	T662A	probably benign	Het
Pex13	A	C	11: 23,655,690	V180G	probably benign	Het
Pkp4	T	A	2: 59,214,747	V22D	probably benign	Het
Ppp1r32	T	C	19: 10,479,481	N167D	probably damaging	Het
Prpf4b	A	C	13: 34,901,433	D954A	probably damaging	Het
Rnaseh2b	T	C	14: 62,361,419	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778	C453S	possibly damaging	Het
Scarf1	G	T	11: 75,515,669	G260W	probably damaging	Het
Scyl1	T	C	19: 5,760,571	E538G	probably damaging	Het
Sec14l5	A	T	16: 5,172,995	I267F	probably damaging	Het
Senp6	T	A	9: 80,113,806	V256D	probably benign	Het
Sf3b4	G	A	3: 96,176,728		probably benign	Het
Ssh1	T	C	5: 113,961,347		probably null	Het
Tas2r143	A	C	6: 42,400,835	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,214,629	P19S	probably damaging	Het
Tmc5	T	A	7: 118,633,966	M1K	probably null	Het
Tnc	T	C	4: 64,000,733	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,769,441	E285G	probably damaging	Het
Txndc11	C	T	16: 11,084,792	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,663,082	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476	I369L	probably benign	Het
Vwf	A	T	6: 125,683,526	T2666S	probably benign	Het
Yif1a	A	G	19: 5,092,341	M259V	probably benign	Het
Zbtb46	T	C	2: 181,391,455	D471G	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
IGL03403:Rfx8	APN	1	39690173	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
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
R9439:Rfx8	UTSW	1	39685509	missense	probably benign	0.01
R9444:Rfx8	UTSW	1	39670316	missense	probably damaging	0.96
R9498:Rfx8	UTSW	1	39685514	missense	probably damaging	1.00
R9649:Rfx8	UTSW	1	39683690	missense	probably damaging	1.00
R9656:Rfx8	UTSW	1	39670519	missense	probably benign	0.00
T0722:Rfx8	UTSW	1	39683612	missense	probably damaging	1.00
Z1088:Rfx8	UTSW	1	39682966	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CCTCTACAGGAAGACAAGTGTGAG -3'
(R):5'- TGAGATCGGATGTCAGTGCC -3'

Sequencing Primer
(F):5'- TGTGAGCACCTTCAACTAGG -3'
(R):5'- ATCGGATGTCAGTGCCCACAG -3'

Posted On

2018-04-27