Incidental Mutation 'R4902:Rfx7'
| ID |
377886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rfx7
|
| Ensembl Gene |
ENSMUSG00000037674 |
| Gene Name |
regulatory factor X, 7 |
| Synonyms |
2510005N23Rik, D130086K05Rik, 9930116O05Rik, Rfxdc2 |
| MMRRC Submission |
042505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
R4902 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
72439522-72530219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72524573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 588
(V588F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093820]
[ENSMUST00000163401]
[ENSMUST00000183372]
[ENSMUST00000184015]
|
| AlphaFold |
F8VPJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093820
AA Change: V588F
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000091338
Gene: ENSMUSG00000037674
AA Change: V588F
| 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 benign
Transcript: ENSMUST00000163401
AA Change: V588F
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127192
Gene: ENSMUSG00000037674
AA Change: V588F
| 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 |
0.0890 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (84/84) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930488N24Rik |
T |
C |
17: 14,326,408 (GRCm39) |
|
noncoding transcript |
Het |
| Adamdec1 |
T |
C |
14: 68,809,215 (GRCm39) |
N249S |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,241,751 (GRCm39) |
V767E |
probably benign |
Het |
| Atp6v1f |
T |
C |
6: 29,470,271 (GRCm39) |
|
probably benign |
Het |
| Brix1 |
T |
C |
15: 10,483,378 (GRCm39) |
|
probably null |
Het |
| Cap2 |
T |
C |
13: 46,684,501 (GRCm39) |
V2A |
probably damaging |
Het |
| Chrnb2 |
A |
G |
3: 89,668,248 (GRCm39) |
C356R |
probably damaging |
Het |
| Chtf8 |
C |
T |
8: 107,612,424 (GRCm39) |
G172R |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dact2 |
T |
A |
17: 14,416,991 (GRCm39) |
K403M |
possibly damaging |
Het |
| Dhx40 |
A |
C |
11: 86,662,036 (GRCm39) |
L674V |
possibly damaging |
Het |
| Dlc1 |
A |
G |
8: 37,044,285 (GRCm39) |
V1230A |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,329,935 (GRCm39) |
S3260T |
probably benign |
Het |
| Eef1a2 |
T |
A |
2: 180,789,881 (GRCm39) |
D428V |
probably benign |
Het |
| Ehd1 |
T |
C |
19: 6,344,273 (GRCm39) |
F178L |
possibly damaging |
Het |
| Eif4a3l1 |
T |
G |
6: 136,306,262 (GRCm39) |
V241G |
probably benign |
Het |
| F2 |
A |
T |
2: 91,465,316 (GRCm39) |
|
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,844,723 (GRCm39) |
D507G |
unknown |
Het |
| Fbxo11 |
G |
A |
17: 88,372,702 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,168 (GRCm39) |
M2871L |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,095,512 (GRCm39) |
D442G |
probably damaging |
Het |
| Gemin5 |
A |
G |
11: 58,055,103 (GRCm39) |
I214T |
probably benign |
Het |
| Gfra2 |
A |
G |
14: 71,204,455 (GRCm39) |
N175S |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Jhy |
C |
T |
9: 40,808,821 (GRCm39) |
|
probably benign |
Het |
| Krtap5-5 |
A |
T |
7: 141,783,156 (GRCm39) |
C165S |
unknown |
Het |
| Lce1k |
T |
A |
3: 92,714,134 (GRCm39) |
T17S |
unknown |
Het |
| Map3k1 |
C |
T |
13: 111,909,146 (GRCm39) |
R268Q |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,883,195 (GRCm39) |
H1351Q |
probably damaging |
Het |
| Met |
T |
C |
6: 17,546,995 (GRCm39) |
V876A |
probably damaging |
Het |
| Mical2 |
T |
C |
7: 111,936,107 (GRCm39) |
S903P |
probably benign |
Het |
| Mkks |
A |
G |
2: 136,718,094 (GRCm39) |
V396A |
probably benign |
Het |
| Mvk |
T |
C |
5: 114,594,060 (GRCm39) |
V305A |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,081,360 (GRCm39) |
T982A |
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,588,311 (GRCm39) |
V209A |
probably benign |
Het |
| Nfkbib |
G |
T |
7: 28,461,173 (GRCm39) |
S158* |
probably null |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
| Ogfr |
A |
G |
2: 180,235,518 (GRCm39) |
|
probably benign |
Het |
| Or10a3 |
G |
A |
7: 108,480,624 (GRCm39) |
T63I |
probably benign |
Het |
| Or2t43 |
G |
A |
11: 58,457,451 (GRCm39) |
S240F |
possibly damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,796 (GRCm39) |
S202P |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,948,978 (GRCm39) |
D131E |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,648,264 (GRCm39) |
|
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
| Ppp1r12a |
T |
C |
10: 108,066,451 (GRCm39) |
V214A |
probably damaging |
Het |
| Prr5l |
A |
G |
2: 101,628,027 (GRCm39) |
|
probably benign |
Het |
| Prss35 |
A |
G |
9: 86,638,175 (GRCm39) |
Q315R |
probably damaging |
Het |
| Psg29 |
G |
T |
7: 16,945,837 (GRCm39) |
*469L |
probably null |
Het |
| Psmd4 |
A |
G |
3: 94,943,170 (GRCm39) |
V78A |
probably damaging |
Het |
| Rad9a |
C |
A |
19: 4,251,552 (GRCm39) |
|
probably benign |
Het |
| Rnase13 |
A |
C |
14: 52,160,052 (GRCm39) |
I29S |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,725,866 (GRCm39) |
N386S |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,952,680 (GRCm39) |
E719G |
probably damaging |
Het |
| Stx4a |
A |
G |
7: 127,441,934 (GRCm39) |
|
probably null |
Het |
| Tekt2 |
A |
G |
4: 126,217,263 (GRCm39) |
S212P |
possibly damaging |
Het |
| Tex19.2 |
A |
T |
11: 121,007,782 (GRCm39) |
L222Q |
probably damaging |
Het |
| Tmem50a |
A |
G |
4: 134,637,017 (GRCm39) |
I38T |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,296,922 (GRCm39) |
V286A |
possibly damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,151,159 (GRCm39) |
M255T |
possibly damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,601,220 (GRCm39) |
F839L |
probably benign |
Het |
| Wdr36 |
T |
C |
18: 32,992,314 (GRCm39) |
V617A |
possibly damaging |
Het |
| Wtip |
A |
T |
7: 33,818,437 (GRCm39) |
|
probably null |
Het |
| Yeats2 |
G |
A |
16: 20,026,418 (GRCm39) |
G765S |
probably benign |
Het |
| Zbtb3 |
T |
C |
19: 8,781,331 (GRCm39) |
S315P |
probably benign |
Het |
| Zdhhc8 |
T |
C |
16: 18,045,030 (GRCm39) |
M259V |
probably benign |
Het |
| Zfp120 |
A |
G |
2: 149,961,440 (GRCm39) |
|
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,627,543 (GRCm39) |
I1552N |
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 |
|
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 |
|
|
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'- CCTCAGATCAAGAATGGTTCTGTC -3'
(R):5'- GCAGACAGTCGTTTCCTTGG -3'
Sequencing Primer
(F):5'- TAGCAGCACTGGGGGAACTTC -3'
(R):5'- AGGGTCTTTATTTACTGAGTCACC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation