Mutagenetix > Incidental Mutation

Incidental Mutation 'R8378:Rfx8'

646788

Institutional Source

Beutler Lab

Gene Symbol

Rfx8

Ensembl Gene

ENSMUSG00000057173

Gene Name

regulatory factor X 8

Synonyms

4933400N17Rik

MMRRC Submission

067746-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8378 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39704459-39760149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39709581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 482 (D482V)

Ref Sequence

ENSEMBL: ENSMUSP00000121212 (fasta)

Gene Model

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

AlphaFold

D3YU81

Predicted Effect

probably damaging
Transcript: ENSMUST00000151913
AA Change: D482V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: D482V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	G	15: 59,886,967 (GRCm39)	I491T	probably damaging	Het
Aadacl4fm4	C	G	4: 144,397,169 (GRCm39)	V188L	probably benign	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Ankrd40	G	T	11: 94,225,662 (GRCm39)	G231V	probably damaging	Het
Ap1s3	T	C	1: 79,601,445 (GRCm39)	E82G	probably damaging	Het
Bmp3	A	G	5: 99,003,248 (GRCm39)	N93D	probably damaging	Het
Car9	C	T	4: 43,509,021 (GRCm39)	R224C	probably damaging	Het
Cass4	T	C	2: 172,269,714 (GRCm39)	C599R	probably benign	Het
Ccdc171	A	G	4: 83,782,490 (GRCm39)	N1261D	possibly damaging	Het
Cdc42bpa	A	G	1: 179,989,709 (GRCm39)	D1726G	probably damaging	Het
Ceacam2	G	A	7: 25,217,597 (GRCm39)	A306V	probably damaging	Het
Crebrf	G	T	17: 26,981,263 (GRCm39)	L546F	probably damaging	Het
Crhr2	A	G	6: 55,069,941 (GRCm39)	F370S	probably damaging	Het
Dhtkd1	T	C	2: 5,922,699 (GRCm39)	T487A	probably benign	Het
Diaph1	G	A	18: 38,025,006 (GRCm39)	A485V	unknown	Het
Dmbt1	T	C	7: 130,708,195 (GRCm39)	V1479A	probably damaging	Het
Efemp1	C	T	11: 28,871,765 (GRCm39)	R427W	probably damaging	Het
Gm11444	C	A	11: 85,741,075 (GRCm39)	W28L		Het
Golga4	A	G	9: 118,387,390 (GRCm39)	D1504G	probably benign	Het
Hirip3	A	G	7: 126,462,757 (GRCm39)	S238G	probably benign	Het
Igkv1-135	T	A	6: 67,587,378 (GRCm39)	V83D	possibly damaging	Het
Ippk	T	A	13: 49,589,055 (GRCm39)	C183*	probably null	Het
Itgb3	A	G	11: 104,533,142 (GRCm39)	T419A	possibly damaging	Het
Kcnt1	A	G	2: 25,797,283 (GRCm39)	H129R	probably benign	Het
Kif18b	A	T	11: 102,807,299 (GRCm39)	V12E	probably damaging	Het
Kif2b	C	A	11: 91,467,201 (GRCm39)	G361C	possibly damaging	Het
Klhl30	A	T	1: 91,285,494 (GRCm39)	K339*	probably null	Het
Lrfn1	A	G	7: 28,159,157 (GRCm39)	I359V	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ndufaf2	C	A	13: 108,189,387 (GRCm39)	L120F	probably damaging	Het
Nlrp1b	A	G	11: 71,052,545 (GRCm39)	V961A	possibly damaging	Het
Or12e10	T	A	2: 87,640,394 (GRCm39)	Y77N	probably damaging	Het
Or2h15	A	G	17: 38,441,678 (GRCm39)	V135A	probably benign	Het
Pcnx2	G	A	8: 126,487,649 (GRCm39)	P1785S	probably damaging	Het
Pcyt2	A	G	11: 120,504,234 (GRCm39)	Y170H	probably benign	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Rilpl1	T	C	5: 124,668,964 (GRCm39)	Y28C	probably damaging	Het
Sgce	G	C	6: 4,689,760 (GRCm39)	L394V	probably damaging	Het
Sgce	T	A	6: 4,691,525 (GRCm39)	Y350F	probably benign	Het
Tbk1	A	G	10: 121,414,597 (GRCm39)	V39A	probably damaging	Het
Tns1	T	A	1: 73,976,405 (GRCm39)	I1148F	probably damaging	Het
Vmn1r192	T	A	13: 22,372,029 (GRCm39)	R64*	probably null	Het
Vmn2r68	A	T	7: 84,871,108 (GRCm39)	V725E	probably benign	Het
Yy1	A	T	12: 108,759,562 (GRCm39)	H75L	unknown	Het
Zwilch	A	T	9: 64,060,240 (GRCm39)	V366D	possibly damaging	Het

Other mutations in Rfx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Rfx8	APN	1	39,722,110 (GRCm39)	nonsense	probably null
IGL01659:Rfx8	APN	1	39,709,733 (GRCm39)	missense	probably damaging	1.00
IGL02239:Rfx8	APN	1	39,720,046 (GRCm39)	missense	probably benign	0.00
IGL02302:Rfx8	APN	1	39,704,682 (GRCm39)	missense	possibly damaging	0.50
IGL02332:Rfx8	APN	1	39,757,640 (GRCm39)	missense	possibly damaging	0.89
IGL02598:Rfx8	APN	1	39,735,128 (GRCm39)	splice site	probably benign
IGL02870:Rfx8	APN	1	39,722,871 (GRCm39)	missense	possibly damaging	0.94
IGL03403:Rfx8	APN	1	39,729,333 (GRCm39)	missense	possibly damaging	0.94
PIT4515001:Rfx8	UTSW	1	39,729,265 (GRCm39)	missense	probably benign	0.04
R0060:Rfx8	UTSW	1	39,757,565 (GRCm39)	splice site	probably benign
R0095:Rfx8	UTSW	1	39,724,696 (GRCm39)	missense	possibly damaging	0.58
R0265:Rfx8	UTSW	1	39,727,737 (GRCm39)	missense	possibly damaging	0.67
R1892:Rfx8	UTSW	1	39,709,746 (GRCm39)	splice site	probably null
R2054:Rfx8	UTSW	1	39,724,719 (GRCm39)	missense	possibly damaging	0.92
R2960:Rfx8	UTSW	1	39,722,112 (GRCm39)	missense	probably damaging	1.00
R4554:Rfx8	UTSW	1	39,720,100 (GRCm39)	missense	probably benign	0.00
R5410:Rfx8	UTSW	1	39,749,316 (GRCm39)	critical splice donor site	probably null
R5496:Rfx8	UTSW	1	39,709,507 (GRCm39)	missense	probably benign	0.01
R5502:Rfx8	UTSW	1	39,722,113 (GRCm39)	missense	probably damaging	1.00
R5916:Rfx8	UTSW	1	39,727,779 (GRCm39)	missense	probably benign	0.20
R6238:Rfx8	UTSW	1	39,709,554 (GRCm39)	missense	probably damaging	0.96
R6360:Rfx8	UTSW	1	39,720,125 (GRCm39)	missense	probably benign
R7593:Rfx8	UTSW	1	39,722,838 (GRCm39)	missense	probably damaging	1.00
R7738:Rfx8	UTSW	1	39,722,091 (GRCm39)	missense	probably damaging	1.00
R8753:Rfx8	UTSW	1	39,757,600 (GRCm39)	missense	probably damaging	1.00
R9439:Rfx8	UTSW	1	39,724,669 (GRCm39)	missense	probably benign	0.01
R9444:Rfx8	UTSW	1	39,709,476 (GRCm39)	missense	probably damaging	0.96
R9498:Rfx8	UTSW	1	39,724,674 (GRCm39)	missense	probably damaging	1.00
R9649:Rfx8	UTSW	1	39,722,850 (GRCm39)	missense	probably damaging	1.00
R9656:Rfx8	UTSW	1	39,709,679 (GRCm39)	missense	probably benign	0.00
T0722:Rfx8	UTSW	1	39,722,772 (GRCm39)	missense	probably damaging	1.00
Z1088:Rfx8	UTSW	1	39,722,126 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- ACTCTTCAGGCCATGCATGC -3'
(R):5'- AAATGTAGGTGCCTGGCATC -3'

Sequencing Primer
(F):5'- ATTAATTCTCTCCCTCTGTGTGTATG -3'
(R):5'- GGTGCCTGGCATCTGTTTCATC -3'

Posted On

2020-09-02