Mutagenetix > Incidental Mutation

Incidental Mutation 'R7738:Rfx8'

596356

Institutional Source

Beutler Lab

Gene Symbol

Rfx8

Ensembl Gene

ENSMUSG00000057173

Gene Name

regulatory factor X 8

Synonyms

4933400N17Rik

MMRRC Submission

045794-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7738 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39704459-39760149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 39722091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 298 (T298K)

Ref Sequence

ENSEMBL: ENSMUSP00000121212 (fasta)

Gene Model

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

AlphaFold

D3YU81

Predicted Effect

probably damaging
Transcript: ENSMUST00000151913
AA Change: T298K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: T298K

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: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkal1	T	A	1: 6,459,728 (GRCm39)	D101E	probably benign	Het
Ank2	C	T	3: 126,741,271 (GRCm39)	A1538T		Het
Arhgap21	A	G	2: 20,854,290 (GRCm39)	S1701P	probably damaging	Het
Arhgap21	A	G	2: 20,855,169 (GRCm39)	Y1408H	probably damaging	Het
Armc3	A	T	2: 19,293,761 (GRCm39)	L517F	probably damaging	Het
Cep57l1	T	A	10: 41,616,842 (GRCm39)	E148D	probably damaging	Het
Clstn1	A	C	4: 149,719,811 (GRCm39)	Q452P	probably damaging	Het
Csmd1	C	A	8: 16,151,004 (GRCm39)	R1437L	probably damaging	Het
Dcbld1	C	T	10: 52,188,922 (GRCm39)	T249I	possibly damaging	Het
Dsp	A	G	13: 38,369,151 (GRCm39)	E749G	probably damaging	Het
Enox1	A	C	14: 77,815,220 (GRCm39)	N126T	probably damaging	Het
Fgfr1	T	A	8: 26,048,201 (GRCm39)	L99Q	probably damaging	Het
Fscn3	G	A	6: 28,434,445 (GRCm39)	R340Q	probably benign	Het
Glrb	C	T	3: 80,767,491 (GRCm39)	C243Y	probably damaging	Het
Gpld1	A	T	13: 25,146,305 (GRCm39)	Y183F	probably damaging	Het
Has2	T	C	15: 56,531,108 (GRCm39)	K536E	possibly damaging	Het
Igtp	A	G	11: 58,097,906 (GRCm39)	E359G	probably benign	Het
Kat14	A	G	2: 144,236,162 (GRCm39)	D509G	probably damaging	Het
Kbtbd2	C	A	6: 56,756,722 (GRCm39)	S338I	possibly damaging	Het
Mpdz	A	G	4: 81,253,986 (GRCm39)	S1049P	probably benign	Het
Ncoa3	C	T	2: 165,891,987 (GRCm39)	A121V	probably damaging	Het
Nfatc4	A	G	14: 56,069,414 (GRCm39)	T647A	possibly damaging	Het
Nip7	T	C	8: 107,783,997 (GRCm39)	F79S	probably damaging	Het
Nrxn3	A	C	12: 88,817,074 (GRCm39)	E251D	possibly damaging	Het
Olig2	T	C	16: 91,024,048 (GRCm39)	I254T	unknown	Het
Or55b4	C	A	7: 102,133,818 (GRCm39)	V170F	probably damaging	Het
Or5ac16	G	A	16: 59,022,318 (GRCm39)	A157V	probably benign	Het
Ostf1	A	T	19: 18,562,065 (GRCm39)	L177*	probably null	Het
Pabpc2	A	T	18: 39,907,319 (GRCm39)	I195F	possibly damaging	Het
Pacs1	A	T	19: 5,202,378 (GRCm39)	M404K	probably benign	Het
Pcdh1	A	G	18: 38,330,529 (GRCm39)	S964P	probably benign	Het
Pcdhb3	T	A	18: 37,436,012 (GRCm39)	N659K	probably benign	Het
Pla2g6	A	T	15: 79,181,633 (GRCm39)	Y537*	probably null	Het
Plekhn1	G	A	4: 156,316,691 (GRCm39)	T330M	probably damaging	Het
Proc	G	A	18: 32,260,532 (GRCm39)	R198*	probably null	Het
S1pr4	A	C	10: 81,334,341 (GRCm39)	S378A	probably benign	Het
Saxo5	T	C	8: 3,533,525 (GRCm39)	F277S	probably damaging	Het
Slfn2	T	A	11: 82,960,799 (GRCm39)	F259L	probably damaging	Het
Snx14	T	C	9: 88,289,527 (GRCm39)	T242A	probably benign	Het
Sptbn2	A	G	19: 4,774,153 (GRCm39)	N68S	probably damaging	Het
Tmem44	A	T	16: 30,362,228 (GRCm39)	S201T	probably benign	Het
Ttc3	A	T	16: 94,188,241 (GRCm39)	I177L	probably benign	Het
Vmn1r177	T	C	7: 23,565,559 (GRCm39)	T106A	probably damaging	Het
Vmn1r28	T	C	6: 58,243,039 (GRCm39)	M294T	probably benign	Het
Zfp518b	G	A	5: 38,829,530 (GRCm39)	T825I	probably benign	Het
Zfp729b	A	T	13: 67,740,194 (GRCm39)	N690K	probably benign	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
R8378:Rfx8	UTSW	1	39,709,581 (GRCm39)	missense	probably damaging	0.98
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'- CTCCTGTGTAGAGAGCAGAGATG -3'
(R):5'- TCCCTAAGCCACTGGGAAAG -3'

Sequencing Primer
(F):5'- CAGAGATGGCTGGAGCTTTTCAG -3'
(R):5'- CCACTGGGAAAGAAGCTGGC -3'

Posted On

2019-11-26