Mutagenetix > Incidental Mutations

Incidental Mutation 'R2208:Rfx7'

236783

Institutional Source

Beutler Lab

Gene Symbol

Rfx7

Ensembl Gene

ENSMUSG00000037674

Gene Name

regulatory factor X, 7

Synonyms

9930116O05Rik, D130086K05Rik, 2510005N23Rik, Rfxdc2

MMRRC Submission

040210-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R2208 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72532240-72622937 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72617964 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 812 (D812G)

Ref Sequence

ENSEMBL: ENSMUSP00000127192 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000093820
AA Change: D812G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: D812G

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

probably benign
Transcript: ENSMUST00000163401
AA Change: D812G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: D812G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185013

Meta Mutation Damage Score

0.0577

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,194,403	N883K	probably benign	Het
Ahnak	T	C	19: 9,017,732	V5460A	probably benign	Het
Bco2	A	G	9: 50,533,455	V517A	probably damaging	Het
Brca2	T	A	5: 150,532,344	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,107,960		probably null	Het
Ccdc39	A	G	3: 33,841,178	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,336,029	H198L	probably damaging	Het
Cdc73	T	A	1: 143,609,382	E516V	probably damaging	Het
Cep170b	T	A	12: 112,738,985	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,678,099	L56P	probably damaging	Het
Clec4d	T	A	6: 123,265,355	V22D	probably damaging	Het
Cyp2c39	T	C	19: 39,560,961	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,556,936	L141P	probably damaging	Het
Cyp4x1	G	T	4: 115,126,594	Q85K	probably benign	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Enpp7	T	C	11: 118,988,762		probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fitm2	T	A	2: 163,472,684		probably benign	Het
Gm14139	T	A	2: 150,193,145	V462E	probably benign	Het
Gng10	T	A	4: 59,035,314	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,023,453	V268I	probably benign	Het
Hmcn2	G	A	2: 31,380,297	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906		probably benign	Het
Krt36	C	T	11: 100,102,939	V358M	probably damaging	Het
Lmod3	T	C	6: 97,247,877	I328V	probably benign	Het
Lrp8	T	C	4: 107,855,790	V580A	probably damaging	Het
Masp2	T	C	4: 148,614,415	I651T	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Msi2	A	T	11: 88,590,108	S118T	probably damaging	Het
Muc19	T	C	15: 91,871,549		noncoding transcript	Het
Nabp1	G	A	1: 51,477,614	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Nup88	T	C	11: 70,965,719	D196G	probably damaging	Het
Olfr747	T	C	14: 50,681,563	I24V	probably benign	Het
Pax1	T	A	2: 147,365,802	I198N	probably damaging	Het
Pde3a	A	G	6: 141,250,347	E253G	probably damaging	Het
Phldb1	C	T	9: 44,696,131	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,999,639	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,799,264		probably null	Het
Ptprf	A	T	4: 118,269,172		probably benign	Het
Rgs22	T	C	15: 36,050,232	T691A	probably benign	Het
Rundc3a	A	T	11: 102,402,088	S436C	probably damaging	Het
Sntb1	T	C	15: 55,906,318	T92A	possibly damaging	Het
Tarsl2	T	C	7: 65,682,848	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,150,792		probably null	Het
Tep1	T	C	14: 50,866,864	Q191R	probably benign	Het
Tmc2	C	A	2: 130,214,563		probably null	Het
Tns1	A	C	1: 74,079,240	I77S	probably damaging	Het
Trpd52l3	T	C	19: 30,004,246	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,297,443	N38K	possibly damaging	Het
Wdr90	A	T	17: 25,860,388	D257E	probably damaging	Het
Zbtb9	T	C	17: 26,974,124	C168R	possibly damaging	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
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
R7255:Rfx7	UTSW	9	72619828	missense	possibly damaging	0.77
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
R7940:Rfx7	UTSW	9	72593323	missense	possibly damaging	0.89
Z1177:Rfx7	UTSW	9	72615244	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGAACCAGTTCTGGAGCAG -3'
(R):5'- AGCTTTCATTTGTCTGGGAAAC -3'

Sequencing Primer
(F):5'- CATCGTCTCCGGATGTAAAAGTC -3'
(R):5'- CAGAAGACTCAAACTCTTTCAGTTC -3'

Posted On

2014-10-02