Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00920:Rfx7'

28156

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rfx7

Ensembl Gene

ENSMUSG00000037674

Gene Name

regulatory factor X, 7

Synonyms

2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

IGL00920

Quality Score

Status

Chromosome

Chromosomal Location

72439522-72530219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72500638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 133 (Y133N)

Ref Sequence

ENSEMBL: ENSMUSP00000138957 (fasta)

Gene Model

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

AlphaFold

F8VPJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000093820
AA Change: Y133N

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

SMART Domains

Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: Y133N

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: Y133N

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

SMART Domains

Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: Y133N

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

probably damaging
Transcript: ENSMUST00000183372
AA Change: Y133N

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

SMART Domains

Protein: ENSMUSP00000139195
Gene: ENSMUSG00000037674
AA Change: Y133N

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

probably damaging
Transcript: ENSMUST00000184015
AA Change: Y133N

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

SMART Domains

Protein: ENSMUSP00000138957
Gene: ENSMUSG00000037674
AA Change: Y133N

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: ENSMUST00000184851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192251

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd209e	T	C	8: 3,899,187 (GRCm39)	D175G	probably damaging	Het
Cep78	T	C	19: 15,958,850 (GRCm39)	I165V	probably benign	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Dpp9	T	C	17: 56,507,599 (GRCm39)	T357A	probably benign	Het
Gm42416	T	A	18: 37,085,820 (GRCm39)	M1K	probably null	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnh5	A	T	12: 75,023,267 (GRCm39)	D600E	probably damaging	Het
Msantd5f1	T	A	4: 73,605,679 (GRCm39)		probably benign	Het
Ndst4	A	G	3: 125,231,860 (GRCm39)	D143G	probably damaging	Het
Nrros	A	G	16: 31,966,438 (GRCm39)	F14S	probably benign	Het
Or5g9	A	T	2: 85,552,583 (GRCm39)	Y278F	probably damaging	Het
Or8g2b	T	C	9: 39,751,230 (GRCm39)	F167L	probably benign	Het
Pcdh7	A	T	5: 57,877,473 (GRCm39)	I343F	probably damaging	Het
Piwil4	C	T	9: 14,638,733 (GRCm39)	R264H	probably damaging	Het
Pnpt1	A	G	11: 29,107,087 (GRCm39)		probably benign	Het
Pycr2	T	A	1: 180,733,958 (GRCm39)		probably benign	Het
Slc17a3	A	G	13: 24,040,464 (GRCm39)	I263V	probably benign	Het
Spink5	A	T	18: 44,136,276 (GRCm39)	E562D	probably damaging	Het
Spty2d1	T	C	7: 46,648,735 (GRCm39)	R65G	probably damaging	Het
Thbs1	C	T	2: 117,943,682 (GRCm39)	T100I	probably damaging	Het
Triml1	T	C	8: 43,591,719 (GRCm39)	N213S	probably damaging	Het
Trp53bp2	T	C	1: 182,272,219 (GRCm39)		probably benign	Het
Vmn2r9	T	C	5: 108,995,890 (GRCm39)	I253V	possibly damaging	Het
Zan	C	T	5: 137,462,786 (GRCm39)	V798I	unknown	Het
Zfp608	C	T	18: 55,022,903 (GRCm39)	M1504I	probably benign	Het

Other mutations in Rfx7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Rfx7	APN	9	72,514,972 (GRCm39)	missense	probably damaging	1.00
IGL00323:Rfx7	APN	9	72,524,702 (GRCm39)	missense	probably damaging	0.97
IGL01317:Rfx7	APN	9	72,525,818 (GRCm39)	missense	probably damaging	0.98
IGL01405:Rfx7	APN	9	72,517,626 (GRCm39)	missense	probably benign	0.02
IGL01585:Rfx7	APN	9	72,524,343 (GRCm39)	missense	probably benign	0.41
IGL02118:Rfx7	APN	9	72,524,486 (GRCm39)	missense	probably benign
IGL02205:Rfx7	APN	9	72,514,932 (GRCm39)	missense	probably damaging	1.00
IGL02608:Rfx7	APN	9	72,524,576 (GRCm39)	missense	probably benign	0.00
IGL02629:Rfx7	APN	9	72,526,541 (GRCm39)	missense	probably damaging	0.96
IGL02963:Rfx7	APN	9	72,524,898 (GRCm39)	missense	probably benign	0.00
IGL03026:Rfx7	APN	9	72,526,967 (GRCm39)	missense	probably damaging	1.00
IGL03033:Rfx7	APN	9	72,440,271 (GRCm39)	splice site	probably benign
IGL03212:Rfx7	APN	9	72,526,443 (GRCm39)	missense	probably benign	0.06
IGL03221:Rfx7	APN	9	72,526,088 (GRCm39)	missense	probably damaging	0.99
PIT4431001:Rfx7	UTSW	9	72,525,253 (GRCm39)	missense	probably benign
R0365:Rfx7	UTSW	9	72,527,118 (GRCm39)	missense	probably benign	0.15
R0449:Rfx7	UTSW	9	72,517,586 (GRCm39)	critical splice acceptor site	probably null
R0464:Rfx7	UTSW	9	72,525,486 (GRCm39)	missense	probably damaging	1.00
R0746:Rfx7	UTSW	9	72,526,388 (GRCm39)	missense	probably benign	0.00
R1195:Rfx7	UTSW	9	72,525,228 (GRCm39)	missense	probably damaging	0.99
R1195:Rfx7	UTSW	9	72,525,228 (GRCm39)	missense	probably damaging	0.99
R1195:Rfx7	UTSW	9	72,525,228 (GRCm39)	missense	probably damaging	0.99
R1263:Rfx7	UTSW	9	72,484,329 (GRCm39)	missense	possibly damaging	0.79
R1277:Rfx7	UTSW	9	72,500,594 (GRCm39)	missense	probably benign	0.32
R1330:Rfx7	UTSW	9	72,524,547 (GRCm39)	missense	probably benign	0.00
R1371:Rfx7	UTSW	9	72,526,857 (GRCm39)	missense	probably damaging	1.00
R1605:Rfx7	UTSW	9	72,519,071 (GRCm39)	missense	probably damaging	1.00
R1802:Rfx7	UTSW	9	72,526,919 (GRCm39)	missense	possibly damaging	0.50
R1903:Rfx7	UTSW	9	72,524,093 (GRCm39)	missense	probably damaging	1.00
R2018:Rfx7	UTSW	9	72,524,967 (GRCm39)	missense	probably benign	0.01
R2050:Rfx7	UTSW	9	72,524,748 (GRCm39)	missense	probably benign	0.01
R2190:Rfx7	UTSW	9	72,525,201 (GRCm39)	missense	probably benign	0.00
R2208:Rfx7	UTSW	9	72,525,246 (GRCm39)	missense	probably benign	0.00
R2921:Rfx7	UTSW	9	72,524,946 (GRCm39)	missense	possibly damaging	0.63
R3978:Rfx7	UTSW	9	72,522,393 (GRCm39)	missense	possibly damaging	0.80
R4231:Rfx7	UTSW	9	72,526,672 (GRCm39)	missense	possibly damaging	0.77
R4243:Rfx7	UTSW	9	72,499,051 (GRCm39)	missense	possibly damaging	0.94
R4244:Rfx7	UTSW	9	72,499,051 (GRCm39)	missense	possibly damaging	0.94
R4245:Rfx7	UTSW	9	72,499,051 (GRCm39)	missense	possibly damaging	0.94
R4261:Rfx7	UTSW	9	72,523,925 (GRCm39)	missense	probably damaging	1.00
R4844:Rfx7	UTSW	9	72,500,524 (GRCm39)	nonsense	probably null
R4902:Rfx7	UTSW	9	72,524,573 (GRCm39)	missense	probably benign	0.05
R5432:Rfx7	UTSW	9	72,500,584 (GRCm39)	missense	probably benign	0.35
R5627:Rfx7	UTSW	9	72,440,066 (GRCm39)	start gained	probably benign
R5900:Rfx7	UTSW	9	72,524,538 (GRCm39)	missense	probably benign
R5991:Rfx7	UTSW	9	72,526,820 (GRCm39)	missense	possibly damaging	0.54
R6273:Rfx7	UTSW	9	72,524,279 (GRCm39)	missense	possibly damaging	0.47
R6306:Rfx7	UTSW	9	72,524,237 (GRCm39)	missense	possibly damaging	0.63
R6324:Rfx7	UTSW	9	72,525,696 (GRCm39)	missense	probably damaging	1.00
R6437:Rfx7	UTSW	9	72,525,768 (GRCm39)	missense	possibly damaging	0.66
R6860:Rfx7	UTSW	9	72,524,226 (GRCm39)	missense	probably damaging	1.00
R6998:Rfx7	UTSW	9	72,525,787 (GRCm39)	missense	probably damaging	1.00
R7255:Rfx7	UTSW	9	72,527,110 (GRCm39)	missense	possibly damaging	0.77
R7336:Rfx7	UTSW	9	72,500,639 (GRCm39)	missense	probably damaging	1.00
R7501:Rfx7	UTSW	9	72,524,054 (GRCm39)	missense	probably benign
R7857:Rfx7	UTSW	9	72,500,605 (GRCm39)	missense	possibly damaging	0.89
R7946:Rfx7	UTSW	9	72,524,096 (GRCm39)	missense	probably damaging	1.00
R8345:Rfx7	UTSW	9	72,524,973 (GRCm39)	missense	probably benign
R8354:Rfx7	UTSW	9	72,526,731 (GRCm39)	missense	probably benign
R8553:Rfx7	UTSW	9	72,519,086 (GRCm39)	missense	probably damaging	1.00
R8726:Rfx7	UTSW	9	72,500,505 (GRCm39)	splice site	probably benign
R8766:Rfx7	UTSW	9	72,524,021 (GRCm39)	missense	possibly damaging	0.47
R8788:Rfx7	UTSW	9	72,524,795 (GRCm39)	missense	probably benign
R8805:Rfx7	UTSW	9	72,524,316 (GRCm39)	missense	probably benign
R8897:Rfx7	UTSW	9	72,525,123 (GRCm39)	missense	probably benign	0.00
R9198:Rfx7	UTSW	9	72,524,163 (GRCm39)	missense	probably damaging	1.00
R9497:Rfx7	UTSW	9	72,526,423 (GRCm39)	missense	probably benign	0.17
R9589:Rfx7	UTSW	9	72,525,122 (GRCm39)	missense	possibly damaging	0.59
Z1177:Rfx7	UTSW	9	72,522,526 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17