Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02205:Rfx7'

284433

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: 0.904) question?

Stock #

IGL02205

Quality Score

Status

Chromosome

Chromosomal Location

72439522-72530219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72514932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 143 (H143Q)

Ref Sequence

ENSEMBL: ENSMUSP00000127192 (fasta)

Gene Model

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

AlphaFold

F8VPJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000093820
AA Change: H143Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: H143Q

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: H143Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: H143Q

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

possibly damaging
Transcript: ENSMUST00000183372
AA Change: H143Q

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139195
Gene: ENSMUSG00000037674
AA Change: H143Q

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: ENSMUST00000183601

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184015
AA Change: H143Q

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138957
Gene: ENSMUSG00000037674
AA Change: H143Q

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	T	G	11: 117,725,982 (GRCm39)	L150R	probably damaging	Het
Ankrd27	T	G	7: 35,316,364 (GRCm39)	D543E	probably damaging	Het
Anks1b	T	G	10: 89,906,956 (GRCm39)	L258V	probably benign	Het
Cacna1i	T	C	15: 80,257,152 (GRCm39)	F1087S	probably benign	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Cmip	G	A	8: 118,181,714 (GRCm39)	V674I	probably damaging	Het
Col4a2	C	T	8: 11,481,305 (GRCm39)	Q826*	probably null	Het
Ctdsp1	C	T	1: 74,432,993 (GRCm39)	A92V	possibly damaging	Het
Dnajc10	T	A	2: 80,179,702 (GRCm39)	S745R	possibly damaging	Het
Dpp4	T	C	2: 62,182,601 (GRCm39)	Y560C	probably damaging	Het
Fbxl6	A	G	15: 76,421,541 (GRCm39)	M232T	probably benign	Het
Gm5414	A	G	15: 101,534,304 (GRCm39)	F267L	probably benign	Het
Heatr5a	A	G	12: 51,924,120 (GRCm39)	I2031T	probably damaging	Het
Hmcn2	T	G	2: 31,290,139 (GRCm39)	V2324G	probably damaging	Het
Hnmt	A	T	2: 23,909,157 (GRCm39)	N85K	probably damaging	Het
Kcng4	G	T	8: 120,352,822 (GRCm39)	R363S	probably damaging	Het
Kif18a	T	C	2: 109,137,363 (GRCm39)		probably benign	Het
Lrrc8b	A	T	5: 105,629,703 (GRCm39)	Y683F	probably benign	Het
Mepce	G	T	5: 137,782,757 (GRCm39)	T523K	probably benign	Het
Mroh1	T	C	15: 76,321,439 (GRCm39)	V1040A	possibly damaging	Het
Myof	A	G	19: 37,913,083 (GRCm39)	Y1470H	probably damaging	Het
Or5p50	A	G	7: 107,421,798 (GRCm39)	Y293H	probably damaging	Het
Otol1	T	C	3: 69,925,929 (GRCm39)	S35P	probably benign	Het
P4htm	T	C	9: 108,459,161 (GRCm39)	D257G	probably benign	Het
Pcdhb15	A	G	18: 37,607,010 (GRCm39)	T81A	probably damaging	Het
Polg2	T	C	11: 106,669,946 (GRCm39)	E108G	probably benign	Het
Sf3b2	A	G	19: 5,333,765 (GRCm39)	V611A	probably benign	Het
Slc10a7	G	T	8: 79,423,932 (GRCm39)	K203N	probably benign	Het
Slc12a5	T	A	2: 164,838,399 (GRCm39)	V1046D	probably benign	Het
Tacc2	A	T	7: 130,228,412 (GRCm39)	D1718V	probably damaging	Het
Unc79	T	A	12: 103,045,260 (GRCm39)	I812N	probably damaging	Het
Vps13c	A	G	9: 67,790,736 (GRCm39)	Y338C	probably damaging	Het
Wdr17	T	C	8: 55,149,335 (GRCm39)	Y31C	probably damaging	Het
Zfp654	A	T	16: 64,606,329 (GRCm39)	N624K	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
IGL02118:Rfx7	APN	9	72,524,486 (GRCm39)	missense	probably benign
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