Mutagenetix > Incidental Mutations

Incidental Mutation 'R0449:Rfx7'

39528

Institutional Source

Beutler Lab

Gene Symbol

Rfx7

Ensembl Gene

ENSMUSG00000037674

Gene Name

regulatory factor X, 7

Synonyms

9930116O05Rik, D130086K05Rik, 2510005N23Rik, Rfxdc2

MMRRC Submission

038649-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R0449 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72532240-72622937 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 72610304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000091338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093820] [ENSMUST00000093820] [ENSMUST00000093820] [ENSMUST00000163401] [ENSMUST00000183372] [ENSMUST00000184015]

AlphaFold

F8VPJ6

Predicted Effect

probably null
Transcript: ENSMUST00000093820

SMART Domains

Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674

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 null
Transcript: ENSMUST00000093820

SMART Domains

Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674

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 null
Transcript: ENSMUST00000093820

SMART Domains

Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674

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 damaging
Transcript: ENSMUST00000163401
AA Change: K173N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: K173N

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: ENSMUST00000183369

Predicted Effect

probably damaging
Transcript: ENSMUST00000183372
AA Change: K173N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139195
Gene: ENSMUSG00000037674
AA Change: K173N

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
PDB:2KW3\|B	41	95	4e-12	PDB
Pfam:RFX_DNA_binding	101	185	9e-40	PFAM
Pfam:Pox_D5	109	196	1.8e-8	PFAM
low complexity region	259	272	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183601

Predicted Effect

probably damaging
Transcript: ENSMUST00000184015
AA Change: K173N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138957
Gene: ENSMUSG00000037674
AA Change: K173N

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
PDB:2KW3\|B	41	95	4e-12	PDB
Pfam:RFX_DNA_binding	101	185	9e-40	PFAM
Pfam:Pox_D5	109	196	1.8e-8	PFAM
low complexity region	259	272	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185013

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,939,885	R813*	probably null	Het
Accsl	T	A	2: 93,866,074	I60F	probably benign	Het
Adam29	C	T	8: 55,872,681	G246D	probably benign	Het
Ankrd13c	A	G	3: 157,991,714	I319V	probably benign	Het
B020004J07Rik	T	C	4: 101,836,961	S242G	probably benign	Het
Bag6	T	G	17: 35,141,466	V327G	probably damaging	Het
Barhl1	C	T	2: 28,915,292	A130T	probably benign	Het
Bend4	T	C	5: 67,398,240	D541G	probably damaging	Het
Birc6	A	C	17: 74,692,295	T4673P	probably damaging	Het
Ccdc81	T	C	7: 89,890,471	R186G	probably damaging	Het
Cdyl2	A	G	8: 116,583,192	F342L	probably damaging	Het
Chd3	C	A	11: 69,357,541	V748L	probably damaging	Het
CN725425	G	T	15: 91,238,944	R72I	possibly damaging	Het
Col22a1	A	G	15: 71,962,671		probably null	Het
Cops3	A	G	11: 59,818,417		probably null	Het
Ctnnd1	G	T	2: 84,603,262	Q940K	possibly damaging	Het
Dtnb	C	T	12: 3,591,971	Q45*	probably null	Het
Efr3a	T	A	15: 65,842,704	I280K	probably damaging	Het
Eml6	A	C	11: 29,893,213	V167G	probably benign	Het
Fam83c	T	A	2: 155,830,295	M407L	probably benign	Het
Fasn	T	C	11: 120,811,068	T1862A	probably benign	Het
Fbxl6	A	G	15: 76,535,955	I486T	probably damaging	Het
Gpr182	A	G	10: 127,750,696	Y129H	probably damaging	Het
Gpr75	A	G	11: 30,892,456	S454G	probably damaging	Het
Hectd4	G	A	5: 121,364,590		probably null	Het
Hsf4	A	G	8: 105,275,590	T411A	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Il4	A	T	11: 53,618,605	M1K	probably null	Het
Ints11	G	T	4: 155,887,948	R463L	probably benign	Het
Ints4	G	A	7: 97,529,223	E677K	probably damaging	Het
Klk1b11	G	A	7: 43,997,792	C50Y	probably damaging	Het
Krt14	C	A	11: 100,207,395	G21C	unknown	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
L3mbtl2	C	T	15: 81,668,741	A125V	probably damaging	Het
Lama3	A	G	18: 12,500,512		probably null	Het
Lrrk2	T	C	15: 91,750,275	L1414P	probably damaging	Het
Matn2	T	C	15: 34,428,541	S684P	probably damaging	Het
Mga	T	A	2: 119,941,381	V1574D	probably damaging	Het
Mia2	T	C	12: 59,172,594		probably null	Het
Mrpl21	T	A	19: 3,292,459		probably benign	Het
Msh5	T	A	17: 35,041,482	Q266L	probably benign	Het
Mybpc1	C	A	10: 88,540,960	C758F	probably damaging	Het
Myo15	G	A	11: 60,509,596	A2932T	possibly damaging	Het
Nbas	T	A	12: 13,519,108	I2021K	probably benign	Het
Neurl4	T	C	11: 69,905,567	S424P	probably damaging	Het
Olfr16	T	A	1: 172,957,398	V201E	probably damaging	Het
Olfr322	A	C	11: 58,665,963	I135L	probably benign	Het
Olfr782	A	G	10: 129,351,234	M224V	probably benign	Het
Olfr829	T	C	9: 18,856,649	M8T	probably benign	Het
Olfr850	T	A	9: 19,478,092	I53F	possibly damaging	Het
Phlpp1	C	T	1: 106,350,578	R907W	probably damaging	Het
Pigg	T	C	5: 108,336,411	V508A	probably benign	Het
Pkhd1l1	T	G	15: 44,501,519	Y685D	probably damaging	Het
Polr3a	A	T	14: 24,484,466	I34N	probably damaging	Het
Prex1	A	G	2: 166,569,377	V1434A	probably benign	Het
Ptprh	T	A	7: 4,598,006	D124V	probably damaging	Het
Rad54b	T	A	4: 11,606,131	I513N	probably benign	Het
Rbm12b1	A	G	4: 12,145,507	N493S	probably benign	Het
Serpini1	A	G	3: 75,613,341	K82E	probably benign	Het
Slc27a6	T	G	18: 58,609,165		probably null	Het
Slc35f2	G	T	9: 53,816,917	L358F	probably damaging	Het
Slc45a1	A	C	4: 150,643,305	I158M	probably damaging	Het
Slurp2	G	A	15: 74,743,106	P62L	probably damaging	Het
Sspo	C	T	6: 48,466,740	H1949Y	probably damaging	Het
Tiam1	A	T	16: 89,837,827	V865E	possibly damaging	Het
Tlr4	A	C	4: 66,839,620	I217L	probably damaging	Het
Top1	C	T	2: 160,712,708	R460*	probably null	Het
Trpm3	T	A	19: 22,988,054	S1638T	probably benign	Het
Tubgcp5	C	T	7: 55,823,567	R798C	probably benign	Het
Vars	T	G	17: 35,012,727		probably null	Het
Xylt2	A	G	11: 94,666,333	Y111H	probably benign	Het
Zbed5	G	A	5: 129,901,726	G172D	probably damaging	Het
Zfp53	C	T	17: 21,508,833	T376I	probably benign	Het
Zfp937	G	T	2: 150,239,546	V499L	probably benign	Het
Zyx	T	A	6: 42,351,313	L152Q	probably 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
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
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
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'- GGCTGCTTTTCTAAAGGAGTCACAGG -3'
(R):5'- GTGGAAGGAACAATTCTCAGTTCCCG -3'

Sequencing Primer
(F):5'- GGTTAAAGCCCTTGTGACAC -3'
(R):5'- GTTCCCGATTTTAGCCAATATACTG -3'

Posted On

2013-05-23