Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Rfx8'

34819

Institutional Source

Beutler Lab

Gene Symbol

Rfx8

Ensembl Gene

ENSMUSG00000057173

Gene Name

regulatory factor X 8

Synonyms

4933400N17Rik

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0265 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

39665301-39720997 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39688577 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 196 (E196G)

Ref Sequence

ENSEMBL: ENSMUSP00000121212 (fasta)

Gene Model

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

AlphaFold

D3YU81

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126760

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151913
AA Change: E196G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: E196G

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

0.1795

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	G	14: 8,431,667 (GRCm38)	Y655S	probably damaging	Het
9330182L06Rik	T	C	5: 9,434,681 (GRCm38)	L486P	probably damaging	Het
Abca14	A	G	7: 120,223,627 (GRCm38)	I321V	probably benign	Het
Adcy7	A	G	8: 88,324,763 (GRCm38)	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,640,076 (GRCm38)	Y457*	probably null	Het
Alox5	T	C	6: 116,420,362 (GRCm38)	Y287C	probably benign	Het
Ano8	T	C	8: 71,480,524 (GRCm38)		probably benign	Het
Ap3b1	A	G	13: 94,493,681 (GRCm38)	K815E	unknown	Het
Atp11a	A	T	8: 12,856,930 (GRCm38)		probably benign	Het
Atp6v0a1	A	T	11: 101,048,515 (GRCm38)	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,761,844 (GRCm38)	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,921,811 (GRCm38)	A39G	probably benign	Het
Cdhr1	A	T	14: 37,081,376 (GRCm38)	V581D	probably benign	Het
Cyp2b23	A	G	7: 26,672,879 (GRCm38)		probably benign	Het
D430041D05Rik	G	C	2: 104,167,950 (GRCm38)	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,624,287 (GRCm38)		probably benign	Het
Dnah8	A	T	17: 30,690,271 (GRCm38)	I1024F	probably benign	Het
Edc3	T	A	9: 57,727,338 (GRCm38)	F213I	probably damaging	Het
Edrf1	G	A	7: 133,657,045 (GRCm38)	D717N	probably damaging	Het
Efna5	G	A	17: 62,651,073 (GRCm38)	P63S	probably damaging	Het
Entpd3	A	G	9: 120,558,481 (GRCm38)	Y248C	probably damaging	Het
Flcn	G	A	11: 59,795,809 (GRCm38)	Q373*	probably null	Het
Fry	T	C	5: 150,434,776 (GRCm38)	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,381,617 (GRCm38)	Y58*	probably null	Het
Gabrp	A	T	11: 33,552,614 (GRCm38)	Y417N	probably damaging	Het
Golga2	C	A	2: 32,304,952 (GRCm38)		probably null	Het
Grip2	C	A	6: 91,773,792 (GRCm38)		probably null	Het
Gsx2	A	G	5: 75,077,068 (GRCm38)	Y227C	probably damaging	Het
Hif3a	T	C	7: 17,035,868 (GRCm38)	*665W	probably null	Het
Hist1h2aa	T	C	13: 23,934,649 (GRCm38)	V63A	probably benign	Het
Hsd3b1	C	A	3: 98,852,773 (GRCm38)	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,950,008 (GRCm38)		probably benign	Het
Inpp4a	A	T	1: 37,378,986 (GRCm38)	D498V	probably damaging	Het
Itga1	A	T	13: 114,992,459 (GRCm38)	D554E	probably benign	Het
Itk	G	A	11: 46,389,458 (GRCm38)		probably benign	Het
Kdm3b	T	A	18: 34,795,663 (GRCm38)		probably benign	Het
Klhl6	A	G	16: 19,948,234 (GRCm38)	V470A	probably benign	Het
Lamb3	T	A	1: 193,320,531 (GRCm38)	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,410,242 (GRCm38)	I41N	probably damaging	Het
Lrp4	A	T	2: 91,490,670 (GRCm38)	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,785,969 (GRCm38)		probably null	Het
Map3k19	A	G	1: 127,822,182 (GRCm38)	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,635,163 (GRCm38)		probably benign	Het
Mocos	A	G	18: 24,666,276 (GRCm38)	D189G	probably benign	Het
Mvb12a	T	A	8: 71,547,010 (GRCm38)	F224L	probably damaging	Het
Myo15	A	T	11: 60,514,897 (GRCm38)		probably null	Het
Nos2	A	T	11: 78,937,602 (GRCm38)	H249L	probably damaging	Het
Notum	A	G	11: 120,658,334 (GRCm38)	M184T	probably benign	Het
Nvl	C	A	1: 181,134,830 (GRCm38)	D192Y	probably damaging	Het
Olfr1024	T	A	2: 85,904,247 (GRCm38)	N269I	probably benign	Het
Olfr1065	C	A	2: 86,445,959 (GRCm38)	V8L	probably benign	Het
Olfr1308	T	C	2: 111,960,494 (GRCm38)	Y193C	probably damaging	Het
Olfr204	A	T	16: 59,315,071 (GRCm38)	F112Y	probably damaging	Het
Olfr218	A	G	1: 173,203,917 (GRCm38)	K187R	probably benign	Het
Osgin1	A	G	8: 119,445,657 (GRCm38)	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,424 (GRCm38)	V123A	probably damaging	Het
P4ha1	A	G	10: 59,348,259 (GRCm38)	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,821,350 (GRCm38)	D559V	probably damaging	Het
Phf2	T	C	13: 48,828,794 (GRCm38)	N151S	unknown	Het
Plxnc1	C	A	10: 94,813,129 (GRCm38)	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,924,197 (GRCm38)	*338Q	probably null	Het
Raver1	A	G	9: 21,075,659 (GRCm38)	S676P	probably benign	Het
Rreb1	A	T	13: 37,916,155 (GRCm38)	K187*	probably null	Het
Rxfp1	T	C	3: 79,667,654 (GRCm38)	T217A	probably benign	Het
Rxra	T	C	2: 27,752,430 (GRCm38)	L305P	probably damaging	Het
Sardh	T	C	2: 27,227,066 (GRCm38)		probably benign	Het
Skor2	A	T	18: 76,876,598 (GRCm38)	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,169,970 (GRCm38)	S343T	probably benign	Het
Sorbs2	T	C	8: 45,785,337 (GRCm38)		probably benign	Het
Supt7l	C	T	5: 31,515,918 (GRCm38)	V329I	probably benign	Het
Taar2	G	A	10: 23,941,495 (GRCm38)	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165 (GRCm38)		probably benign	Het
Tcn2	A	T	11: 3,922,044 (GRCm38)	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,697,834 (GRCm38)	A170T	possibly damaging	Het
Tnks	G	A	8: 34,839,970 (GRCm38)	R1142*	probably null	Het
Ttll7	C	A	3: 146,944,160 (GRCm38)	Y648*	probably null	Het
Umod	G	T	7: 119,466,073 (GRCm38)	Q578K	probably benign	Het
Upf2	G	A	2: 6,027,204 (GRCm38)		probably benign	Het
Vmn2r92	C	T	17: 18,167,957 (GRCm38)	A408V	probably damaging	Het
Washc5	A	G	15: 59,338,960 (GRCm38)	I1013T	probably benign	Het
Wdr60	T	C	12: 116,257,406 (GRCm38)		probably benign	Het
Zfp704	C	A	3: 9,565,157 (GRCm38)	R48L	probably damaging	Het

Other mutations in Rfx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Rfx8	APN	1	39,682,950 (GRCm38)	nonsense	probably null
IGL01659:Rfx8	APN	1	39,670,573 (GRCm38)	missense	probably damaging	1.00
IGL02239:Rfx8	APN	1	39,680,886 (GRCm38)	missense	probably benign	0.00
IGL02302:Rfx8	APN	1	39,665,522 (GRCm38)	missense	possibly damaging	0.50
IGL02332:Rfx8	APN	1	39,718,480 (GRCm38)	missense	possibly damaging	0.89
IGL02598:Rfx8	APN	1	39,695,968 (GRCm38)	splice site	probably benign
IGL02870:Rfx8	APN	1	39,683,711 (GRCm38)	missense	possibly damaging	0.94
IGL03403:Rfx8	APN	1	39,690,173 (GRCm38)	missense	possibly damaging	0.94
PIT4515001:Rfx8	UTSW	1	39,690,105 (GRCm38)	missense	probably benign	0.04
R0060:Rfx8	UTSW	1	39,718,405 (GRCm38)	splice site	probably benign
R0095:Rfx8	UTSW	1	39,685,536 (GRCm38)	missense	possibly damaging	0.58
R1892:Rfx8	UTSW	1	39,670,586 (GRCm38)	splice site	probably null
R2054:Rfx8	UTSW	1	39,685,559 (GRCm38)	missense	possibly damaging	0.92
R2960:Rfx8	UTSW	1	39,682,952 (GRCm38)	missense	probably damaging	1.00
R4554:Rfx8	UTSW	1	39,680,940 (GRCm38)	missense	probably benign	0.00
R5410:Rfx8	UTSW	1	39,710,156 (GRCm38)	critical splice donor site	probably null
R5496:Rfx8	UTSW	1	39,670,347 (GRCm38)	missense	probably benign	0.01
R5502:Rfx8	UTSW	1	39,682,953 (GRCm38)	missense	probably damaging	1.00
R5916:Rfx8	UTSW	1	39,688,619 (GRCm38)	missense	probably benign	0.20
R6238:Rfx8	UTSW	1	39,670,394 (GRCm38)	missense	probably damaging	0.96
R6360:Rfx8	UTSW	1	39,680,965 (GRCm38)	missense	probably benign
R7593:Rfx8	UTSW	1	39,683,678 (GRCm38)	missense	probably damaging	1.00
R7738:Rfx8	UTSW	1	39,682,931 (GRCm38)	missense	probably damaging	1.00
R8378:Rfx8	UTSW	1	39,670,421 (GRCm38)	missense	probably damaging	0.98
R8753:Rfx8	UTSW	1	39,718,440 (GRCm38)	missense	probably damaging	1.00
R9439:Rfx8	UTSW	1	39,685,509 (GRCm38)	missense	probably benign	0.01
R9444:Rfx8	UTSW	1	39,670,316 (GRCm38)	missense	probably damaging	0.96
R9498:Rfx8	UTSW	1	39,685,514 (GRCm38)	missense	probably damaging	1.00
R9649:Rfx8	UTSW	1	39,683,690 (GRCm38)	missense	probably damaging	1.00
R9656:Rfx8	UTSW	1	39,670,519 (GRCm38)	missense	probably benign	0.00
T0722:Rfx8	UTSW	1	39,683,612 (GRCm38)	missense	probably damaging	1.00
Z1088:Rfx8	UTSW	1	39,682,966 (GRCm38)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TGCTCTTCAAGCATCGTGACACC -3'
(R):5'- CCAGAGCTGTGACAAGATTGTCCC -3'

Sequencing Primer
(F):5'- CTGAGAATTTCCAAATGACTAAGCCG -3'
(R):5'- CTGTGACAAGATTGTCCCTAGAG -3'

Posted On

2013-05-09