Mutagenetix > Incidental Mutation

Incidental Mutation 'R9589:Rfx7'

722937

Institutional Source

Beutler Lab

Gene Symbol

Rfx7

Ensembl Gene

ENSMUSG00000037674

Gene Name

regulatory factor X, 7

Synonyms

2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R9589 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72439522-72530219 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72525122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 771 (S771P)

Ref Sequence

ENSEMBL: ENSMUSP00000127192 (fasta)

Gene Model

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

AlphaFold

F8VPJ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093820
AA Change: S771P

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: S771P

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

possibly damaging
Transcript: ENSMUST00000163401
AA Change: S771P

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: S771P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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
Adgrg3	A	G	8: 95,760,093 (GRCm39)	D104G	possibly damaging	Het
Ahnak2	G	T	12: 112,746,831 (GRCm39)	D1166E		Het
C2cd3	T	A	7: 100,081,756 (GRCm39)	S1133T		Het
Ccdc17	A	G	4: 116,454,791 (GRCm39)	Q168R	probably benign	Het
Fn1	A	T	1: 71,668,941 (GRCm39)	I668N	probably damaging	Het
Fyb2	C	A	4: 104,872,833 (GRCm39)	N735K	probably damaging	Het
Gad1	T	C	2: 70,416,284 (GRCm39)	S248P	possibly damaging	Het
Gcnt1	G	A	19: 17,307,422 (GRCm39)	A101V	probably benign	Het
Herc1	T	A	9: 66,372,840 (GRCm39)	M3132K	possibly damaging	Het
Htra3	T	C	5: 35,821,409 (GRCm39)	I323V	probably damaging	Het
Ighv11-2	A	T	12: 114,012,047 (GRCm39)	V56D	probably damaging	Het
Itga8	C	T	2: 12,237,701 (GRCm39)	G340R	probably damaging	Het
Kcnk15	C	T	2: 163,700,127 (GRCm39)	T122M	probably damaging	Het
Kif13a	G	T	13: 46,956,020 (GRCm39)	Q658K	probably benign	Het
Kif13b	T	C	14: 65,013,759 (GRCm39)	I1303T	possibly damaging	Het
Kifc3	A	T	8: 95,861,372 (GRCm39)	S94R	possibly damaging	Het
Lrrc63	A	T	14: 75,322,379 (GRCm39)	F575Y	possibly damaging	Het
Map1a	T	C	2: 121,136,398 (GRCm39)	S2405P	probably damaging	Het
Map2	A	G	1: 66,449,753 (GRCm39)	T159A	probably benign	Het
Mgam	A	T	6: 40,727,519 (GRCm39)	I1315F	probably damaging	Het
Or51a39	T	C	7: 102,363,372 (GRCm39)	T83A	probably damaging	Het
Pah	T	A	10: 87,403,197 (GRCm39)	F191I	probably damaging	Het
Plekhh2	G	A	17: 84,854,918 (GRCm39)	D51N	possibly damaging	Het
Ppp4r2	C	T	6: 100,838,409 (GRCm39)	T109M	probably damaging	Het
Sec11a	T	C	7: 80,565,899 (GRCm39)	*171W	probably null	Het
Secisbp2l	C	A	2: 125,589,425 (GRCm39)	V708L	probably benign	Het
Secisbp2l	T	G	2: 125,589,430 (GRCm39)	D706A	probably damaging	Het
Shpk	C	T	11: 73,104,267 (GRCm39)	P139S	possibly damaging	Het
Slc6a18	A	G	13: 73,816,323 (GRCm39)	L352P	possibly damaging	Het
Slitrk3	T	C	3: 72,957,981 (GRCm39)	T264A	probably benign	Het
Smg9	T	G	7: 24,120,246 (GRCm39)	S407A	probably damaging	Het
Stmn4	A	G	14: 66,595,338 (GRCm39)	E121G	probably damaging	Het
Tmem237	G	A	1: 59,159,146 (GRCm39)	P10S	probably benign	Het
Vmn2r73	A	G	7: 85,519,659 (GRCm39)	I433T	probably benign	Het
Zfp28	T	A	7: 6,392,816 (GRCm39)	M164K	probably benign	Het
Zswim8	A	G	14: 20,763,171 (GRCm39)	M357V	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
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
Z1177:Rfx7	UTSW	9	72,522,526 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTGCTCAGATTCCTAACAAGG -3'
(R):5'- CAGAGAAGATTCTGGTATCTGGC -3'

Sequencing Primer
(F):5'- CAAGGTGTCAATCAGTGTCAGTTCAC -3'
(R):5'- AAGATTCTGGTATCTGGCTATGTAGC -3'

Posted On

2022-08-09