Mutagenetix > Incidental Mutation

Incidental Mutation 'R1892:Rfx8'

211559

Institutional Source

Beutler Lab

Gene Symbol

Rfx8

Ensembl Gene

ENSMUSG00000057173

Gene Name

regulatory factor X 8

Synonyms

4933400N17Rik

MMRRC Submission

039912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39665301-39720997 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 39670586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121212 (fasta)

Gene Model

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

AlphaFold

D3YU81

Predicted Effect

probably null
Transcript: ENSMUST00000151913

SMART Domains

Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173

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

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 120,216,338 (GRCm38)	A270T	probably benign	Het
Abcb7	A	T	X: 104,342,536 (GRCm38)	H97Q	probably damaging	Het
Adat3	T	C	10: 80,606,415 (GRCm38)	L29P	probably damaging	Het
AI987944	A	T	7: 41,374,596 (GRCm38)	C320S	probably damaging	Het
Asic4	C	T	1: 75,469,482 (GRCm38)	R285W	probably damaging	Het
Asic5	A	T	3: 82,020,986 (GRCm38)	I419L	probably damaging	Het
Batf	A	G	12: 85,689,328 (GRCm38)	K42E	probably damaging	Het
Bcar3	A	G	3: 122,508,136 (GRCm38)	N160S	probably benign	Het
Bco2	C	A	9: 50,550,563 (GRCm38)	G47V	probably damaging	Het
Bicc1	T	G	10: 70,958,784 (GRCm38)	K181T	probably damaging	Het
Brinp2	A	G	1: 158,254,972 (GRCm38)		probably null	Het
Cacng8	A	G	7: 3,415,052 (GRCm38)	D240G	possibly damaging	Het
Calca	A	G	7: 114,633,727 (GRCm38)	Y96H	probably damaging	Het
Cdh1	A	T	8: 106,664,250 (GRCm38)	K666I	possibly damaging	Het
Cdh16	A	T	8: 104,617,999 (GRCm38)	I500N	possibly damaging	Het
Chst14	A	G	2: 118,927,349 (GRCm38)	Y208C	probably damaging	Het
Chst9	T	C	18: 15,452,960 (GRCm38)	H182R	probably damaging	Het
Clk2	A	G	3: 89,175,195 (GRCm38)	I367M	possibly damaging	Het
Cobl	G	C	11: 12,253,258 (GRCm38)	S1066W	probably damaging	Het
Ctcfl	A	G	2: 173,118,685 (GRCm38)	V35A	probably benign	Het
Dchs1	G	T	7: 105,764,156 (GRCm38)	H1151N	probably benign	Het
Dennd1c	T	C	17: 57,067,083 (GRCm38)	T529A	probably benign	Het
Dnah11	A	T	12: 118,106,474 (GRCm38)	V1532D	possibly damaging	Het
Dync1h1	A	G	12: 110,646,304 (GRCm38)	Y2871C	probably damaging	Het
Dytn	T	C	1: 63,677,261 (GRCm38)	E51G	probably benign	Het
Esd	C	T	14: 74,749,673 (GRCm38)	A266V	probably damaging	Het
Fam104a	G	T	11: 113,663,386 (GRCm38)	P161H	probably damaging	Het
Gli1	T	C	10: 127,330,106 (GRCm38)	M1093V	possibly damaging	Het
Gm15446	A	G	5: 109,943,387 (GRCm38)	K502E	probably damaging	Het
Gm15448	A	C	7: 3,824,574 (GRCm38)	C195G	probably benign	Het
Gm4076	T	A	13: 85,127,328 (GRCm38)		noncoding transcript	Het
Gm9830	A	G	9: 44,464,528 (GRCm38)		noncoding transcript	Het
Gm9938	G	A	19: 23,724,591 (GRCm38)		probably benign	Het
Grhl1	G	A	12: 24,584,910 (GRCm38)	R245H	probably damaging	Het
Hnrnpul1	A	T	7: 25,726,766 (GRCm38)	D553E	probably benign	Het
Hpn	G	A	7: 31,099,043 (GRCm38)	Q415*	probably null	Het
Hsd11b1	T	G	1: 193,223,760 (GRCm38)	M175L	probably benign	Het
Htra1	G	A	7: 130,985,069 (GRCm38)	V461I	possibly damaging	Het
Il1rl2	A	G	1: 40,327,534 (GRCm38)	H76R	probably damaging	Het
Insrr	G	A	3: 87,813,877 (GRCm38)	V1112M	probably damaging	Het
Ints9	T	C	14: 65,020,423 (GRCm38)	S351P	probably benign	Het
Itgav	T	A	2: 83,771,336 (GRCm38)	N350K	probably damaging	Het
Kdm4d	C	A	9: 14,464,317 (GRCm38)	V82L	probably benign	Het
Klc1	T	C	12: 111,781,827 (GRCm38)		probably null	Het
Kmt5c	T	A	7: 4,742,715 (GRCm38)	C69*	probably null	Het
Lgals3	T	G	14: 47,384,707 (GRCm38)	N193K	possibly damaging	Het
Morc2b	T	A	17: 33,135,774 (GRCm38)	D1008V	probably damaging	Het
Mpg	C	T	11: 32,231,720 (GRCm38)	Q243*	probably null	Het
Muc15	C	T	2: 110,737,352 (GRCm38)	R281*	probably null	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 172,071,471 (GRCm38)		probably null	Het
Nek5	A	G	8: 22,107,729 (GRCm38)	M278T	probably benign	Het
Npas2	A	G	1: 39,345,422 (GRCm38)	T599A	probably benign	Het
Nrf1	A	G	6: 30,144,788 (GRCm38)	D519G	probably null	Het
Nup43	A	G	10: 7,673,609 (GRCm38)	H176R	probably damaging	Het
Nxpe2	T	C	9: 48,326,614 (GRCm38)	T114A	probably damaging	Het
Olfr218	T	C	1: 173,204,228 (GRCm38)	Y291H	probably damaging	Het
Olfr497	A	T	7: 108,422,940 (GRCm38)	Y123F	possibly damaging	Het
Olfr790	A	C	10: 129,501,033 (GRCm38)	I50L	probably benign	Het
Perm1	C	T	4: 156,217,883 (GRCm38)	R295C	probably benign	Het
Pik3ip1	G	T	11: 3,333,304 (GRCm38)	A135S	probably damaging	Het
Ppp4c	A	G	7: 126,786,280 (GRCm38)	V119A	probably damaging	Het
Prepl	A	G	17: 85,088,450 (GRCm38)	Y35H	possibly damaging	Het
Ptpn13	A	G	5: 103,501,679 (GRCm38)	Y316C	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Ranbp2	T	C	10: 58,464,099 (GRCm38)	V491A	probably benign	Het
Ranbp9	C	A	13: 43,416,457 (GRCm38)	C495F	possibly damaging	Het
Rnf111	T	A	9: 70,476,374 (GRCm38)	K92N	probably damaging	Het
Rtn1	A	G	12: 72,212,563 (GRCm38)	I772T	probably damaging	Het
Ryr2	T	A	13: 11,658,958 (GRCm38)	K72*	probably null	Het
Sergef	A	T	7: 46,614,616 (GRCm38)		probably null	Het
Sez6l	T	C	5: 112,472,799 (GRCm38)	N305S	probably damaging	Het
Slc40a1	A	T	1: 45,911,142 (GRCm38)	C383*	probably null	Het
Stab2	C	T	10: 86,938,049 (GRCm38)	C806Y	probably damaging	Het
Stard9	A	G	2: 120,693,708 (GRCm38)	T795A	probably benign	Het
Stk31	T	C	6: 49,438,474 (GRCm38)	I536T	probably damaging	Het
Stox1	T	A	10: 62,665,399 (GRCm38)	T461S	possibly damaging	Het
Suv39h2	T	C	2: 3,459,768 (GRCm38)	Y219C	probably damaging	Het
Tap1	T	G	17: 34,194,941 (GRCm38)	D643E	probably damaging	Het
Tbc1d2b	T	A	9: 90,218,943 (GRCm38)	I665F	probably damaging	Het
Tdrd6	T	C	17: 43,624,805 (GRCm38)	N1784S	probably benign	Het
Tmem14c	T	C	13: 41,021,157 (GRCm38)	F81L	possibly damaging	Het
Tnrc6c	A	G	11: 117,714,362 (GRCm38)	N108D	probably benign	Het
Tox3	A	T	8: 90,270,241 (GRCm38)	N131K	probably benign	Het
Tspear	T	A	10: 77,870,474 (GRCm38)	D359E	probably benign	Het
Ttc9	A	G	12: 81,631,777 (GRCm38)	I125V	probably benign	Het
Ttn	A	T	2: 76,898,187 (GRCm38)		probably benign	Het
Ubn2	C	T	6: 38,491,291 (GRCm38)	S980F	probably damaging	Het
Zfp362	T	A	4: 128,790,264 (GRCm38)	T30S	probably benign	Het
Zfp385c	A	C	11: 100,637,804 (GRCm38)	H32Q	probably damaging	Het
Zfp870	A	T	17: 32,883,889 (GRCm38)	H156Q	possibly damaging	Het
Zfp873	T	C	10: 82,061,246 (GRCm38)	C641R	probably damaging	Het
Zfp950	A	T	19: 61,119,111 (GRCm38)	H511Q	probably benign	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
R0265:Rfx8	UTSW	1	39,688,577 (GRCm38)	missense	possibly damaging	0.67
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'- TCGTGTGTTTCAGCGTCAC -3'
(R):5'- TAGTAGATAGCTGCAGGGGTC -3'

Sequencing Primer
(F):5'- TGCACATTCCGATGTTGGCAAAG -3'
(R):5'- AGGGGTCAAAGTTCAAGTCCCTTC -3'

Posted On

2014-06-30