Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02332:Rfx8'

288714

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfx8

Ensembl Gene

ENSMUSG00000057173

Gene Name

regulatory factor X 8

Synonyms

4933400N17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

39704459-39760149 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39757640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 43 (I43V)

Ref Sequence

ENSEMBL: ENSMUSP00000121212 (fasta)

Gene Model

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

AlphaFold

D3YU81

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151913
AA Change: I43V

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121212
Gene: ENSMUSG00000057173
AA Change: I43V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,563,323 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,241,482 (GRCm39)	Y1115F	probably damaging	Het
Adam29	T	A	8: 56,324,775 (GRCm39)	I560F	probably damaging	Het
Bivm	T	C	1: 44,167,880 (GRCm39)		probably benign	Het
Brinp1	C	A	4: 68,823,121 (GRCm39)	R24L	probably benign	Het
Cnga1	A	G	5: 72,761,829 (GRCm39)	Y562H	probably damaging	Het
Cr2	C	A	1: 194,842,630 (GRCm39)	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,396,865 (GRCm39)	N119I	probably damaging	Het
Dio1	A	T	4: 107,150,978 (GRCm39)	Y169N	probably damaging	Het
Dmbt1	C	T	7: 130,668,343 (GRCm39)		probably benign	Het
Eogt	T	G	6: 97,102,566 (GRCm39)	H249P	probably damaging	Het
Ermard	A	C	17: 15,210,807 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,226,175 (GRCm39)		probably null	Het
Fxr2	G	T	11: 69,540,664 (GRCm39)		probably null	Het
Glyr1	G	T	16: 4,836,817 (GRCm39)	T443N	probably damaging	Het
Gm14137	T	G	2: 119,005,807 (GRCm39)	L122R	probably damaging	Het
Gm4845	C	A	1: 141,184,335 (GRCm39)		noncoding transcript	Het
Gm8258	A	G	5: 104,923,768 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,897,990 (GRCm39)	R258H	probably benign	Het
Itga6	T	G	2: 71,668,717 (GRCm39)	L552R	possibly damaging	Het
Itgam	T	A	7: 127,684,846 (GRCm39)		probably null	Het
Itgb5	G	T	16: 33,740,500 (GRCm39)	E224*	probably null	Het
Itih4	C	A	14: 30,609,817 (GRCm39)	A49D	probably damaging	Het
Itpr2	A	T	6: 146,328,040 (GRCm39)	N64K	probably damaging	Het
Moap1	T	C	12: 102,709,066 (GRCm39)	Y161C	probably benign	Het
Mst1r	G	T	9: 107,785,025 (GRCm39)	G228*	probably null	Het
Myo1g	T	C	11: 6,470,766 (GRCm39)	D30G	possibly damaging	Het
Ndn	T	A	7: 61,998,573 (GRCm39)	C140S	probably damaging	Het
Nek5	G	T	8: 22,585,277 (GRCm39)	Q367K	probably benign	Het
Nrdc	A	T	4: 108,858,185 (GRCm39)	R52S	probably damaging	Het
Nup133	A	T	8: 124,634,571 (GRCm39)	L1007Q	probably damaging	Het
Or51k2	T	C	7: 103,596,127 (GRCm39)	M118T	probably damaging	Het
Or5be3	T	C	2: 86,864,556 (GRCm39)	D3G	probably benign	Het
Or5d47	A	T	2: 87,804,409 (GRCm39)	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,489,671 (GRCm39)	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,576,635 (GRCm39)	V338M	probably benign	Het
Pdcl2	A	T	5: 76,466,982 (GRCm39)	Y70*	probably null	Het
Ppm1e	T	C	11: 87,122,568 (GRCm39)	H463R	probably benign	Het
Ppm1f	T	A	16: 16,731,951 (GRCm39)	C134S	possibly damaging	Het
Ppp2r3d	A	G	9: 101,057,602 (GRCm39)	F180L	possibly damaging	Het
Pxn	A	G	5: 115,682,985 (GRCm39)	S96G	probably benign	Het
Rasa4	G	T	5: 136,124,453 (GRCm39)	Q167H	probably benign	Het
Sez6	C	T	11: 77,845,568 (GRCm39)		probably benign	Het
Slc39a6	A	T	18: 24,722,880 (GRCm39)	D473E	probably benign	Het
Spocd1	A	G	4: 129,842,885 (GRCm39)	D68G	probably damaging	Het
Syt13	T	C	2: 92,771,149 (GRCm39)	F79L	probably benign	Het
Tas2r103	A	T	6: 133,013,475 (GRCm39)	M197K	probably benign	Het
Tbrg4	A	G	11: 6,568,492 (GRCm39)	V429A	probably damaging	Het
Tuft1	A	C	3: 94,523,075 (GRCm39)		probably null	Het
Uqcrc1	A	G	9: 108,776,937 (GRCm39)	T80A	probably damaging	Het
Vps18	A	G	2: 119,124,291 (GRCm39)	N406S	probably benign	Het
Xrn2	T	A	2: 146,868,510 (GRCm39)	W188R	probably damaging	Het
Zzef1	T	G	11: 72,807,335 (GRCm39)	S2738A	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
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
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

Posted On

2015-04-16