Incidental Mutation 'R0464:Rfx7'
| ID |
71434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx7
|
| Ensembl Gene |
ENSMUSG00000037674 |
| Gene Name |
regulatory factor X, 7 |
| Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
| MMRRC Submission |
038664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R0464 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72525486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 892
(V892A)
|
| 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: V892A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: V892A
| 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: V892A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: V892A
| 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 |
0.0831 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
| Validation Efficiency |
100% (80/80) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
G |
T |
2: 163,574,884 (GRCm39) |
Y84* |
probably null |
Het |
| Adar |
T |
A |
3: 89,642,889 (GRCm39) |
C257S |
possibly damaging |
Het |
| Adgrd1 |
G |
T |
5: 129,239,714 (GRCm39) |
C507F |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,867,622 (GRCm39) |
Y299H |
probably benign |
Het |
| Bok |
G |
T |
1: 93,621,935 (GRCm39) |
R77L |
probably damaging |
Het |
| Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
| Ceacam1 |
A |
G |
7: 25,171,442 (GRCm39) |
S341P |
possibly damaging |
Het |
| Cfhr3 |
A |
T |
1: 139,521,683 (GRCm39) |
|
noncoding transcript |
Het |
| Ckap5 |
A |
G |
2: 91,409,858 (GRCm39) |
I947V |
probably benign |
Het |
| Clec2i |
T |
C |
6: 128,872,386 (GRCm39) |
Y173H |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,408,690 (GRCm39) |
D977G |
possibly damaging |
Het |
| Cyp2f2 |
C |
A |
7: 26,831,962 (GRCm39) |
Q406K |
probably benign |
Het |
| Ddx28 |
A |
G |
8: 106,736,685 (GRCm39) |
S458P |
probably damaging |
Het |
| Dppa3 |
T |
A |
6: 122,605,492 (GRCm39) |
|
probably null |
Het |
| Dusp10 |
C |
A |
1: 183,801,273 (GRCm39) |
L347I |
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| Fbxl15 |
A |
T |
19: 46,316,951 (GRCm39) |
E13D |
probably benign |
Het |
| Fhit |
T |
A |
14: 10,991,567 (GRCm38) |
|
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,784,662 (GRCm39) |
V882F |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gabbr1 |
C |
T |
17: 37,361,726 (GRCm39) |
|
probably benign |
Het |
| Ganc |
T |
A |
2: 120,267,175 (GRCm39) |
V497D |
probably benign |
Het |
| Glt8d2 |
T |
G |
10: 82,490,564 (GRCm39) |
H242P |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,348,338 (GRCm39) |
Y131C |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,371,712 (GRCm39) |
K609E |
unknown |
Het |
| Gprc5a |
A |
T |
6: 135,056,413 (GRCm39) |
K287* |
probably null |
Het |
| Iqub |
T |
A |
6: 24,479,262 (GRCm39) |
K427* |
probably null |
Het |
| Itpr2 |
C |
G |
6: 146,277,387 (GRCm39) |
D666H |
probably damaging |
Het |
| Kcnj5 |
T |
C |
9: 32,234,269 (GRCm39) |
I15M |
possibly damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,693,426 (GRCm39) |
E334G |
probably damaging |
Het |
| Lypd6 |
T |
A |
2: 50,080,690 (GRCm39) |
I126N |
probably damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,089,801 (GRCm39) |
L28P |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,455,511 (GRCm39) |
D56G |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,498,571 (GRCm39) |
D889G |
probably damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Nab1 |
T |
C |
1: 52,529,174 (GRCm39) |
D241G |
possibly damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ncbp3 |
C |
T |
11: 72,960,647 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,525,307 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,447,615 (GRCm39) |
V2452A |
probably benign |
Het |
| Nlrp1b |
A |
C |
11: 71,109,070 (GRCm39) |
S144A |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,640,597 (GRCm39) |
|
probably null |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
"TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC" |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Paox |
T |
A |
7: 139,709,195 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,462,676 (GRCm39) |
|
probably null |
Het |
| Pde8b |
G |
A |
13: 95,241,206 (GRCm39) |
T202M |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,019,814 (GRCm39) |
V905D |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,926,796 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,139,998 (GRCm39) |
N87S |
probably benign |
Het |
| Rbl1 |
C |
A |
2: 156,989,465 (GRCm39) |
K1051N |
probably damaging |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rnf144b |
T |
A |
13: 47,396,363 (GRCm39) |
Y233* |
probably null |
Het |
| Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 110,063,783 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 58,039,253 (GRCm39) |
K85N |
probably damaging |
Het |
| Siglec1 |
A |
T |
2: 130,921,279 (GRCm39) |
C631S |
probably damaging |
Het |
| Simc1 |
C |
T |
13: 54,684,913 (GRCm39) |
R50* |
probably null |
Het |
| Skint5 |
T |
A |
4: 113,392,928 (GRCm39) |
M1235L |
unknown |
Het |
| Slc22a19 |
A |
T |
19: 7,660,278 (GRCm39) |
N377K |
probably benign |
Het |
| Spata31d1a |
A |
G |
13: 59,849,573 (GRCm39) |
F852L |
possibly damaging |
Het |
| Spata31e3 |
A |
G |
13: 50,402,311 (GRCm39) |
|
probably benign |
Het |
| Srbd1 |
G |
A |
17: 86,427,430 (GRCm39) |
S401F |
probably damaging |
Het |
| Stk36 |
C |
A |
1: 74,650,331 (GRCm39) |
Q288K |
probably damaging |
Het |
| Styx |
T |
C |
14: 45,609,908 (GRCm39) |
S191P |
probably benign |
Het |
| Supt6 |
T |
A |
11: 78,107,164 (GRCm39) |
N1214I |
probably benign |
Het |
| Tcim |
T |
A |
8: 24,928,644 (GRCm39) |
D90V |
probably damaging |
Het |
| Tdpoz1 |
T |
A |
3: 93,578,782 (GRCm39) |
M1L |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,085,141 (GRCm39) |
T881S |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,275 (GRCm39) |
A193V |
probably benign |
Het |
| Tmem117 |
T |
A |
15: 94,612,800 (GRCm39) |
F112Y |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,651,375 (GRCm39) |
R1633W |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,220,649 (GRCm39) |
|
probably null |
Het |
| Triobp |
A |
G |
15: 78,851,186 (GRCm39) |
R447G |
possibly damaging |
Het |
| Trip6 |
A |
G |
5: 137,311,943 (GRCm39) |
F46S |
probably damaging |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Usp33 |
T |
C |
3: 152,081,872 (GRCm39) |
|
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,255 (GRCm39) |
I156F |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,123,427 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
G |
T |
12: 9,077,472 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
C |
T |
4: 19,638,763 (GRCm39) |
|
probably benign |
Het |
| Zfp652 |
T |
C |
11: 95,654,475 (GRCm39) |
C293R |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGCTTTAATCGTAACGAATGGC -3'
(R):5'- TGACAGACTCTGAGACCCAGCAATC -3'
Sequencing Primer
(F):5'- ATGACGATTGCTGAGCATCC -3'
(R):5'- gttggggttggagttggg -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation