Mutagenetix > Incidental Mutation

Incidental Mutation 'R1195:Rfx7'

101061

Institutional Source

Beutler Lab

Gene Symbol

Rfx7

Ensembl Gene

ENSMUSG00000037674

Gene Name

regulatory factor X, 7

Synonyms

2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2

MMRRC Submission

039267-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R1195 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72439522-72530219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72525228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 806 (T806M)

Ref Sequence

ENSEMBL: ENSMUSP00000127192 (fasta)

Gene Model

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

AlphaFold

F8VPJ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000093820
AA Change: T806M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: T806M

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: T806M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: T806M

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

0.6467

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.1%
20x: 81.3%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	C	A	13: 30,565,901 (GRCm39)	P322Q	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Brd1	T	C	15: 88,585,014 (GRCm39)	E940G	probably benign	Het
Cd28	C	T	1: 60,802,303 (GRCm39)	T74I	possibly damaging	Het
Cntnap2	T	A	6: 46,460,902 (GRCm39)	M646K	probably benign	Het
Cyb5d1	C	T	11: 69,285,797 (GRCm39)		probably null	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dst	A	G	1: 34,250,235 (GRCm39)	D4063G	probably damaging	Het
Elmod1	T	C	9: 53,843,052 (GRCm39)	Y42C	probably damaging	Het
Hdac5	T	C	11: 102,096,332 (GRCm39)	I310V	probably damaging	Het
Ighv10-1	A	T	12: 114,443,015 (GRCm39)		probably benign	Het
Igsf3	A	G	3: 101,365,419 (GRCm39)	D1130G	probably benign	Het
Katnip	A	G	7: 125,465,654 (GRCm39)	R1343G	probably damaging	Het
Kdm4d	A	G	9: 14,374,395 (GRCm39)	S488P	probably benign	Het
Lingo2	A	G	4: 35,708,538 (GRCm39)	Y481H	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Map3k20	C	T	2: 72,268,562 (GRCm39)	P523L	probably damaging	Het
Msx1	A	G	5: 37,978,625 (GRCm39)	Y297H	probably damaging	Het
Myo9a	A	G	9: 59,802,483 (GRCm39)	D1990G	probably damaging	Het
Niban2	T	C	2: 32,809,815 (GRCm39)	V304A	probably benign	Het
Perp	C	A	10: 18,731,483 (GRCm39)	Y147*	probably null	Het
Prr16	A	T	18: 51,435,755 (GRCm39)	D78V	probably damaging	Het
Robo2	T	C	16: 73,713,016 (GRCm39)		probably null	Het
Sema5b	A	T	16: 35,472,030 (GRCm39)	E496V	probably null	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Spdl1	T	C	11: 34,710,644 (GRCm39)	Y368C	probably damaging	Het
Sptbn2	G	C	19: 4,795,921 (GRCm39)	R1700P	possibly damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tln2	T	G	9: 67,165,848 (GRCm39)	K1000Q	probably damaging	Het
Tmbim7	A	G	5: 3,711,943 (GRCm39)	T63A	probably benign	Het
Tmed11	T	C	5: 108,926,885 (GRCm39)	D129G	possibly damaging	Het
Ttc28	G	A	5: 111,373,543 (GRCm39)	S962N	probably damaging	Het
Ttll6	T	C	11: 96,026,555 (GRCm39)	I113T	probably damaging	Het
Uso1	T	A	5: 92,318,606 (GRCm39)	F210L	probably damaging	Het
Uspl1	T	A	5: 149,131,131 (GRCm39)	V224E	probably benign	Het
Zfp639	G	A	3: 32,573,345 (GRCm39)	V86I	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCTGCTCTTGTCACCAGTGAAC -3'
(R):5'- CTGCTGCTCCATAAGTACCAGCTC -3'

Sequencing Primer
(F):5'- GTCACCAGTGAACCAGTTCTG -3'
(R):5'- GAAGACTCAAACTCTTTCAGTTCCG -3'

Posted On

2014-01-15