Incidental Mutation 'R3978:Rfx7'
| ID |
311131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx7
|
| Ensembl Gene |
ENSMUSG00000037674 |
| Gene Name |
regulatory factor X, 7 |
| Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
| MMRRC Submission |
040941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R3978 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72522393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 296
(T296A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093820]
[ENSMUST00000163401]
[ENSMUST00000183372]
[ENSMUST00000184015]
|
| AlphaFold |
F8VPJ6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093820
AA Change: T296A
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: T296A
| 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: T296A
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: T296A
| 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
|
| Meta Mutation Damage Score |
0.0605 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,435 (GRCm39) |
T61A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
| Ankhd1 |
A |
T |
18: 36,780,666 (GRCm39) |
H1906L |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,237,554 (GRCm39) |
V743I |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,261,503 (GRCm39) |
D453G |
probably damaging |
Het |
| Atp2b1 |
C |
A |
10: 98,832,795 (GRCm39) |
|
probably null |
Het |
| Azin1 |
A |
T |
15: 38,498,957 (GRCm39) |
N135K |
probably damaging |
Het |
| B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,798,274 (GRCm39) |
T1662A |
probably benign |
Het |
| Cog8 |
T |
A |
8: 107,779,669 (GRCm39) |
I203F |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,576,078 (GRCm39) |
H2094R |
probably damaging |
Het |
| Cybb |
T |
C |
X: 9,310,827 (GRCm39) |
Y425C |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
| Dpyd |
AAAT |
AAATGTATATAAAT |
3: 118,690,737 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,486,129 (GRCm39) |
E276G |
probably damaging |
Het |
| Fam171a1 |
A |
C |
2: 3,226,072 (GRCm39) |
M402L |
probably benign |
Het |
| Fga |
A |
T |
3: 82,937,490 (GRCm39) |
|
probably null |
Het |
| Foxp2 |
A |
G |
6: 15,197,207 (GRCm39) |
|
probably benign |
Het |
| Gbp2 |
C |
T |
3: 142,335,747 (GRCm39) |
T149I |
possibly damaging |
Het |
| Gm9631 |
A |
G |
11: 121,834,394 (GRCm39) |
Y281H |
possibly damaging |
Het |
| Gpr21 |
C |
T |
2: 37,407,862 (GRCm39) |
T136I |
probably benign |
Het |
| Gprc5b |
C |
T |
7: 118,583,354 (GRCm39) |
V172M |
probably damaging |
Het |
| Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
| Hdlbp |
T |
C |
1: 93,349,073 (GRCm39) |
I535V |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,925,530 (GRCm39) |
V949A |
probably benign |
Het |
| Hoxc13 |
T |
C |
15: 102,829,675 (GRCm39) |
V18A |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
| Il27ra |
G |
A |
8: 84,767,313 (GRCm39) |
T170I |
probably benign |
Het |
| Insm2 |
T |
C |
12: 55,647,623 (GRCm39) |
Y456H |
probably benign |
Het |
| Katna1 |
T |
C |
10: 7,628,518 (GRCm39) |
M249T |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,357 (GRCm39) |
I298N |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,808,753 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Nos3 |
T |
A |
5: 24,582,929 (GRCm39) |
D685E |
probably damaging |
Het |
| Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
| Or5p61 |
A |
G |
7: 107,758,819 (GRCm39) |
M87T |
possibly damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,206,757 (GRCm39) |
H661L |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,242,253 (GRCm39) |
I13T |
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,055,909 (GRCm39) |
M757T |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,685,944 (GRCm39) |
R19W |
possibly damaging |
Het |
| Rgl2 |
G |
A |
17: 34,154,136 (GRCm39) |
R472H |
probably benign |
Het |
| Rhcg |
T |
C |
7: 79,267,147 (GRCm39) |
E43G |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,006,759 (GRCm39) |
|
probably null |
Het |
| Rorb |
A |
G |
19: 18,915,254 (GRCm39) |
V468A |
probably benign |
Het |
| Rxrb |
C |
T |
17: 34,255,300 (GRCm39) |
P209L |
possibly damaging |
Het |
| Sbf2 |
G |
T |
7: 109,929,092 (GRCm39) |
T1438K |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,124,201 (GRCm39) |
C163S |
possibly damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,727,239 (GRCm39) |
D110N |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,515,859 (GRCm39) |
|
probably null |
Het |
| Slc5a5 |
A |
G |
8: 71,342,039 (GRCm39) |
V305A |
probably benign |
Het |
| Slc6a6 |
A |
T |
6: 91,732,033 (GRCm39) |
M621L |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,744,546 (GRCm39) |
D301V |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
| Syt15 |
T |
A |
14: 33,945,061 (GRCm39) |
C203S |
probably benign |
Het |
| Tdrd1 |
A |
G |
19: 56,855,066 (GRCm39) |
R1171G |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,944,210 (GRCm39) |
V30A |
probably damaging |
Het |
| Ubp1 |
A |
T |
9: 113,785,773 (GRCm39) |
|
probably null |
Het |
| Vmn2r68 |
T |
A |
7: 84,881,670 (GRCm39) |
Y470F |
probably benign |
Het |
| Wbp1l |
T |
A |
19: 46,642,396 (GRCm39) |
|
probably null |
Het |
| Wee1 |
G |
T |
7: 109,723,762 (GRCm39) |
D226Y |
probably damaging |
Het |
| Yap1 |
C |
T |
9: 8,004,285 (GRCm39) |
G36D |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,348 (GRCm39) |
I951T |
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 |
|
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 |
|
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'- GCTGCAAGCTTAGACACTTTG -3'
(R):5'- TATTACCGGAATGGGGCTAGGG -3'
Sequencing Primer
(F):5'- AAACTGAGTAATGCGGCC -3'
(R):5'- ACCACGATCCCAATGGGCTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation