Mutagenetix > Incidental Mutations

Incidental Mutation 'R7255:Rfx7'

564208

Institutional Source

Beutler Lab

Gene Symbol

Rfx7

Ensembl Gene

ENSMUSG00000037674

Gene Name

regulatory factor X, 7

Synonyms

9930116O05Rik, D130086K05Rik, 2510005N23Rik, Rfxdc2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R7255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72532240-72622937 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72619828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1433 (S1433R)

Ref Sequence

ENSEMBL: ENSMUSP00000127192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093820] [ENSMUST00000163401]

AlphaFold

F8VPJ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093820
AA Change: S1433R

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: S1433R

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
PDB:2KW3\|B	41	95	4e-11	PDB
Pfam:RFX_DNA_binding	101	185	3.1e-39	PFAM
low complexity region	260	270	N/A	INTRINSIC
low complexity region	304	321	N/A	INTRINSIC
low complexity region	356	370	N/A	INTRINSIC
low complexity region	521	534	N/A	INTRINSIC
low complexity region	947	965	N/A	INTRINSIC
low complexity region	1010	1018	N/A	INTRINSIC
low complexity region	1066	1081	N/A	INTRINSIC
low complexity region	1252	1263	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163401
AA Change: S1433R

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: S1433R

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
PDB:2KW3\|B	41	95	4e-11	PDB
Pfam:RFX_DNA_binding	105	183	2.9e-33	PFAM
low complexity region	260	270	N/A	INTRINSIC
low complexity region	304	321	N/A	INTRINSIC
low complexity region	356	370	N/A	INTRINSIC
low complexity region	521	534	N/A	INTRINSIC
low complexity region	947	965	N/A	INTRINSIC
low complexity region	1010	1018	N/A	INTRINSIC
low complexity region	1066	1081	N/A	INTRINSIC
low complexity region	1252	1263	N/A	INTRINSIC

Meta Mutation Damage Score

0.0644

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	G	A	11: 23,620,465	P145L	probably benign	Het
9530003J23Rik	T	C	10: 117,234,422	H150R	probably benign	Het
Aldh1a7	A	G	19: 20,714,728	S234P	probably damaging	Het
Arhgap28	T	C	17: 67,853,004	H650R	probably damaging	Het
Asic1	A	G	15: 99,697,457	D355G	probably damaging	Het
Atp8b1	T	A	18: 64,556,868	S598C	probably damaging	Het
Bcat1	C	A	6: 145,032,785	E237*	probably null	Het
Btbd16	A	T	7: 130,785,992	I114F	probably benign	Het
Casp2	A	G	6: 42,268,907	D166G	probably damaging	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cpsf1	G	A	15: 76,597,543	T1099M	probably damaging	Het
Crisp4	C	A	1: 18,130,231	A116S	probably damaging	Het
Cyb5r3	A	G	15: 83,160,165	I168T	probably damaging	Het
Dip2b	G	A	15: 100,209,627	D1407N	probably benign	Het
Dnajc8	A	G	4: 132,551,573	K201R	probably benign	Het
Dock10	C	T	1: 80,543,099		probably null	Het
Dopey2	C	A	16: 93,770,146	H1272N	probably damaging	Het
Dsc1	C	T	18: 20,097,273	R325Q	probably benign	Het
Enpp1	A	T	10: 24,645,315	I838K	possibly damaging	Het
Fcna	T	G	2: 25,626,028	D159A	probably damaging	Het
Flnc	G	T	6: 29,445,766	G840C	probably damaging	Het
Flt1	C	T	5: 147,580,406	A1024T	probably damaging	Het
Galc	T	C	12: 98,246,255	K207R	probably null	Het
Gbp2b	T	A	3: 142,608,117	L386Q	probably damaging	Het
Gm8297	T	A	14: 4,984,874	N48K	probably damaging	Het
Gm9639	G	A	10: 77,794,538	P180L	unknown	Het
Inpp5a	A	G	7: 139,511,448	N116S	probably damaging	Het
Ipo9	T	C	1: 135,385,988	E984G	probably benign	Het
Klra4	A	G	6: 130,059,642	F145L	probably damaging	Het
Lag3	A	G	6: 124,910,235	L123P	probably benign	Het
Med7	T	A	11: 46,440,995	M139K	probably damaging	Het
Mfsd2a	A	C	4: 122,952,021	L153R	possibly damaging	Het
Mup9	A	G	4: 60,421,337	V71A	probably benign	Het
Myo16	A	T	8: 10,499,169	Q927L	unknown	Het
Myo9b	T	C	8: 71,290,891	Y199H	probably damaging	Het
Nefm	A	G	14: 68,116,000	F406L	probably benign	Het
Olfr1123	T	A	2: 87,418,942	L296Q	probably damaging	Het
Olfr1333	A	T	4: 118,829,952	F162I	probably benign	Het
Pamr1	T	C	2: 102,611,584	F173L	probably damaging	Het
Pds5b	T	A	5: 150,796,667	D1205E	probably benign	Het
Plxna2	T	G	1: 194,752,103	F646V	probably benign	Het
Pnrc1	C	T	4: 33,248,045	G118D	probably benign	Het
Ppp1r16b	T	C	2: 158,761,391	F412S	probably benign	Het
Prcc	A	T	3: 87,870,091	V192E	probably damaging	Het
Psg19	A	G	7: 18,794,048	Y257H	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Sbspon	G	T	1: 15,883,797	C86*	probably null	Het
Sdhb	A	G	4: 140,977,418	E230G	possibly damaging	Het
Sema6b	T	C	17: 56,125,336	T581A	probably benign	Het
Shkbp1	G	T	7: 27,342,748	T594K	possibly damaging	Het
Shpk	A	G	11: 73,199,660	S48G	probably benign	Het
Slc1a3	A	G	15: 8,642,999	V332A	possibly damaging	Het
Slc25a25	T	C	2: 32,421,372	E135G	possibly damaging	Het
Slc5a8	A	T	10: 88,909,631	D367V	probably damaging	Het
Slco1c1	A	G	6: 141,569,325	T649A	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spats1	T	A	17: 45,454,205	D163V	probably damaging	Het
Ssh2	T	A	11: 77,425,593	M304K	probably damaging	Het
Sulf1	T	A	1: 12,859,008	D166E	probably benign	Het
Syne1	A	G	10: 5,333,446	S1540P	probably damaging	Het
Tcf7l1	A	T	6: 72,627,347		probably null	Het
Tet1	A	T	10: 62,822,636	M1477K	probably benign	Het
Tlr5	T	C	1: 182,974,316	F395S	probably damaging	Het
Trrap	T	C	5: 144,858,954	L3847P	probably damaging	Het
Tsks	C	T	7: 44,952,688	S276L	probably benign	Het
Uggt1	T	C	1: 36,146,106	E1519G	probably damaging	Het
Vps13a	A	G	19: 16,654,339		probably null	Het
Wdfy4	A	G	14: 32,974,282	V2768A		Het
Wdr26	A	C	1: 181,181,324	I627R	probably benign	Het
Zfp160	T	A	17: 21,025,487	S100T	probably benign	Het

Other mutations in Rfx7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Rfx7	APN	9	72607690	missense	probably damaging	1.00
IGL00323:Rfx7	APN	9	72617420	missense	probably damaging	0.97
IGL00920:Rfx7	APN	9	72593356	missense	probably damaging	1.00
IGL01317:Rfx7	APN	9	72618536	missense	probably damaging	0.98
IGL01405:Rfx7	APN	9	72610344	missense	probably benign	0.02
IGL01585:Rfx7	APN	9	72617061	missense	probably benign	0.41
IGL02118:Rfx7	APN	9	72617204	missense	probably benign
IGL02205:Rfx7	APN	9	72607650	missense	probably damaging	1.00
IGL02608:Rfx7	APN	9	72617294	missense	probably benign	0.00
IGL02629:Rfx7	APN	9	72619259	missense	probably damaging	0.96
IGL02963:Rfx7	APN	9	72617616	missense	probably benign	0.00
IGL03026:Rfx7	APN	9	72619685	missense	probably damaging	1.00
IGL03033:Rfx7	APN	9	72532989	splice site	probably benign
IGL03212:Rfx7	APN	9	72619161	missense	probably benign	0.06
IGL03221:Rfx7	APN	9	72618806	missense	probably damaging	0.99
PIT4431001:Rfx7	UTSW	9	72617971	missense	probably benign
R0365:Rfx7	UTSW	9	72619836	missense	probably benign	0.15
R0449:Rfx7	UTSW	9	72610304	critical splice acceptor site	probably null
R0464:Rfx7	UTSW	9	72618204	missense	probably damaging	1.00
R0746:Rfx7	UTSW	9	72619106	missense	probably benign	0.00
R1195:Rfx7	UTSW	9	72617946	missense	probably damaging	0.99
R1195:Rfx7	UTSW	9	72617946	missense	probably damaging	0.99
R1195:Rfx7	UTSW	9	72617946	missense	probably damaging	0.99
R1263:Rfx7	UTSW	9	72577047	missense	possibly damaging	0.79
R1277:Rfx7	UTSW	9	72593312	missense	probably benign	0.32
R1330:Rfx7	UTSW	9	72617265	missense	probably benign	0.00
R1371:Rfx7	UTSW	9	72619575	missense	probably damaging	1.00
R1605:Rfx7	UTSW	9	72611789	missense	probably damaging	1.00
R1802:Rfx7	UTSW	9	72619637	missense	possibly damaging	0.50
R1903:Rfx7	UTSW	9	72616811	missense	probably damaging	1.00
R2018:Rfx7	UTSW	9	72617685	missense	probably benign	0.01
R2050:Rfx7	UTSW	9	72617466	missense	probably benign	0.01
R2190:Rfx7	UTSW	9	72617919	missense	probably benign	0.00
R2208:Rfx7	UTSW	9	72617964	missense	probably benign	0.00
R2921:Rfx7	UTSW	9	72617664	missense	possibly damaging	0.63
R3978:Rfx7	UTSW	9	72615111	missense	possibly damaging	0.80
R4231:Rfx7	UTSW	9	72619390	missense	possibly damaging	0.77
R4243:Rfx7	UTSW	9	72591769	missense	possibly damaging	0.94
R4244:Rfx7	UTSW	9	72591769	missense	possibly damaging	0.94
R4245:Rfx7	UTSW	9	72591769	missense	possibly damaging	0.94
R4261:Rfx7	UTSW	9	72616643	missense	probably damaging	1.00
R4844:Rfx7	UTSW	9	72593242	nonsense	probably null
R4902:Rfx7	UTSW	9	72617291	missense	probably benign	0.05
R5432:Rfx7	UTSW	9	72593302	missense	probably benign	0.35
R5627:Rfx7	UTSW	9	72532784	start gained	probably benign
R5900:Rfx7	UTSW	9	72617256	missense	probably benign
R5991:Rfx7	UTSW	9	72619538	missense	possibly damaging	0.54
R6273:Rfx7	UTSW	9	72616997	missense	possibly damaging	0.47
R6306:Rfx7	UTSW	9	72616955	missense	possibly damaging	0.63
R6324:Rfx7	UTSW	9	72618414	missense	probably damaging	1.00
R6437:Rfx7	UTSW	9	72618486	missense	possibly damaging	0.66
R6860:Rfx7	UTSW	9	72616944	missense	probably damaging	1.00
R6998:Rfx7	UTSW	9	72618505	missense	probably damaging	1.00
R7336:Rfx7	UTSW	9	72593357	missense	probably damaging	1.00
R7501:Rfx7	UTSW	9	72616772	missense	probably benign
R7857:Rfx7	UTSW	9	72593323	missense	possibly damaging	0.89
R7946:Rfx7	UTSW	9	72616814	missense	probably damaging	1.00
R8345:Rfx7	UTSW	9	72617691	missense	probably benign
R8354:Rfx7	UTSW	9	72619449	missense	probably benign
R8553:Rfx7	UTSW	9	72611804	missense	probably damaging	1.00
R8726:Rfx7	UTSW	9	72593223	splice site	probably benign
R8766:Rfx7	UTSW	9	72616739	missense	possibly damaging	0.47
R8788:Rfx7	UTSW	9	72617513	missense	probably benign
R8805:Rfx7	UTSW	9	72617034	missense	probably benign
R8897:Rfx7	UTSW	9	72617841	missense	probably benign	0.00
R9198:Rfx7	UTSW	9	72616881	missense	probably damaging	1.00
Z1177:Rfx7	UTSW	9	72615244	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGGTGGCATCTGATCTCAC -3'
(R):5'- GAAGAAACCACTTCTGCAGC -3'

Sequencing Primer
(F):5'- TGGCATCTGATCTCACCAACACTG -3'
(R):5'- GCAGCAAACGCTTTTAAAATGTCAC -3'

Posted On

2019-06-26