Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02118:Rfx7'

280478

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 #

IGL02118

Quality Score

Status

Chromosome

Chromosomal Location

72439522-72530219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72524486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 559 (T559A)

Ref Sequence

ENSEMBL: ENSMUSP00000127192 (fasta)

Gene Model

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

AlphaFold

F8VPJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000093820
AA Change: T559A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: T559A

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: T559A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: T559A

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 benign
Transcript: ENSMUST00000183372

SMART Domains

Protein: ENSMUSP00000139195
Gene: ENSMUSG00000037674

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 benign
Transcript: ENSMUST00000184015

SMART Domains

Protein: ENSMUSP00000138957
Gene: ENSMUSG00000037674

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: ENSMUST00000184373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185013

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,758,865 (GRCm39)	Y359H	possibly damaging	Het
Actn2	A	G	13: 12,291,433 (GRCm39)		probably benign	Het
Actr8	T	C	14: 29,704,728 (GRCm39)		probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Aldob	T	A	4: 49,538,790 (GRCm39)	K243*	probably null	Het
Arfgap1	T	C	2: 180,622,237 (GRCm39)	F274S	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cask	T	C	X: 13,425,634 (GRCm39)	I471V	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,942 (GRCm39)	G150S	probably benign	Het
Cpne1	T	G	2: 155,919,563 (GRCm39)	D278A	possibly damaging	Het
Gcn1	A	G	5: 115,748,938 (GRCm39)	E1856G	probably damaging	Het
Gm8362	A	T	14: 18,149,595 (GRCm39)	V159E	probably damaging	Het
Golga5	A	G	12: 102,462,011 (GRCm39)	I700V	possibly damaging	Het
Ifi206	T	C	1: 173,309,334 (GRCm39)	T221A	probably benign	Het
Ighv2-6-8	T	C	12: 113,760,037 (GRCm39)	K24R	possibly damaging	Het
Morc1	T	C	16: 48,407,467 (GRCm39)	L661P	probably benign	Het
Per2	G	A	1: 91,352,031 (GRCm39)	T825I	probably damaging	Het
Plscr1l1	A	T	9: 92,233,011 (GRCm39)	K45*	probably null	Het
Pramel20	A	T	4: 143,297,726 (GRCm39)	T49S	probably benign	Het
Prkar2b	A	G	12: 32,025,963 (GRCm39)	V19A	probably damaging	Het
Psmb8	T	A	17: 34,420,198 (GRCm39)	D263E	probably damaging	Het
Pum2	T	C	12: 8,779,117 (GRCm39)	I563T	probably benign	Het
Retreg1	T	G	15: 25,966,709 (GRCm39)		probably null	Het
Rnf31	T	G	14: 55,836,569 (GRCm39)	I801S	probably damaging	Het
Rom1	G	T	19: 8,906,386 (GRCm39)	T51N	possibly damaging	Het
Sema6b	G	T	17: 56,439,821 (GRCm39)	P7T	probably benign	Het
Stpg1	A	G	4: 135,235,375 (GRCm39)		probably benign	Het
Sugct	A	T	13: 17,627,105 (GRCm39)	Y249*	probably null	Het
Tbc1d21	C	T	9: 58,267,746 (GRCm39)	V317M	probably benign	Het
Tcea2	A	G	2: 181,327,628 (GRCm39)	I125V	probably benign	Het
Ttc39b	T	A	4: 83,216,186 (GRCm39)	D19V	probably damaging	Het
Tti2	T	A	8: 31,645,537 (GRCm39)		probably null	Het
Usp32	A	T	11: 84,923,003 (GRCm39)	Y142*	probably null	Het
Vill	A	G	9: 118,889,466 (GRCm39)	Y134C	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Zfp398	A	G	6: 47,835,879 (GRCm39)	D14G	probably damaging	Het
Zfp598	T	C	17: 24,896,591 (GRCm39)	Y223H	probably damaging	Het
Znhit6	G	T	3: 145,283,859 (GRCm39)	C43F	probably damaging	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
IGL00920:Rfx7	APN	9	72,500,638 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16