Incidental Mutation 'R5006:Foxp1'
| ID |
390163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxp1
|
| Ensembl Gene |
ENSMUSG00000030067 |
| Gene Name |
forkhead box P1 |
| Synonyms |
3110052D19Rik, 4932443N09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5006 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
98902299-99499682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 99139819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 54
(V54G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074346]
[ENSMUST00000113322]
[ENSMUST00000113324]
[ENSMUST00000113326]
[ENSMUST00000113328]
[ENSMUST00000113329]
[ENSMUST00000176565]
[ENSMUST00000176632]
[ENSMUST00000176850]
[ENSMUST00000177208]
[ENSMUST00000177230]
[ENSMUST00000177307]
[ENSMUST00000177227]
|
| AlphaFold |
P58462 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074346
AA Change: V54G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073953
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
330 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
334 |
359 |
8.67e-1 |
SMART |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
446 |
N/A |
INTRINSIC |
|
FH
|
491 |
572 |
2.07e-39 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000075832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113322
AA Change: V54G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108948
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
330 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
334 |
359 |
8.67e-1 |
SMART |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
446 |
N/A |
INTRINSIC |
|
FH
|
491 |
572 |
2.07e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113324
AA Change: V54G
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108950
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
335 |
360 |
8.67e-1 |
SMART |
|
low complexity region
|
372 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
447 |
N/A |
INTRINSIC |
|
FH
|
492 |
573 |
2.07e-39 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113326
AA Change: V54G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108952
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
298 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
302 |
327 |
8.67e-1 |
SMART |
|
low complexity region
|
339 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
414 |
N/A |
INTRINSIC |
|
FH
|
459 |
540 |
2.07e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113328
AA Change: V54G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000108954
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
335 |
360 |
8.67e-1 |
SMART |
|
low complexity region
|
372 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
447 |
N/A |
INTRINSIC |
|
FH
|
492 |
573 |
2.07e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113329
AA Change: V54G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108955
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
330 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
334 |
359 |
8.67e-1 |
SMART |
|
low complexity region
|
371 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
446 |
N/A |
INTRINSIC |
|
FH
|
491 |
579 |
1.76e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131967
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176565
AA Change: V54G
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135181
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
335 |
360 |
8.67e-1 |
SMART |
|
low complexity region
|
372 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
447 |
N/A |
INTRINSIC |
|
FH
|
491 |
572 |
2.07e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176632
AA Change: V54G
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135635
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
299 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
303 |
328 |
8.67e-1 |
SMART |
|
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
415 |
N/A |
INTRINSIC |
|
FH
|
460 |
541 |
2.07e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176850
AA Change: V54G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135041
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
300 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
304 |
329 |
8.67e-1 |
SMART |
|
low complexity region
|
341 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
416 |
N/A |
INTRINSIC |
|
FH
|
461 |
542 |
2.07e-39 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177208
AA Change: V54G
|
| SMART Domains |
Protein: ENSMUSP00000135187
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177230
AA Change: V54G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135098
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
169 |
203 |
N/A |
INTRINSIC |
|
low complexity region
|
206 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
300 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
304 |
329 |
8.67e-1 |
SMART |
|
low complexity region
|
341 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
402 |
416 |
N/A |
INTRINSIC |
|
FH
|
461 |
542 |
2.07e-39 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177307
AA Change: V54G
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135764
Gene: ENSMUSG00000030067
AA Change: V54G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
62 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
332 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
336 |
361 |
8.67e-1 |
SMART |
|
low complexity region
|
373 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
448 |
N/A |
INTRINSIC |
|
FH
|
492 |
573 |
2.07e-39 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177227
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic lethality with abnormal outflow tract septation, ventricular septal defects, abnormal cardiac valve morphology, decreased and irregular heart rate, thin ventricular compact zone, and edema. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
C |
A |
5: 24,781,535 (GRCm39) |
E51* |
probably null |
Het |
| Bcl11a |
T |
A |
11: 24,114,989 (GRCm39) |
Y777* |
probably null |
Het |
| C2cd4c |
T |
A |
10: 79,448,341 (GRCm39) |
T269S |
probably benign |
Het |
| Ciao2a |
G |
A |
9: 66,043,634 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,620,503 (GRCm39) |
|
probably null |
Het |
| Il2ra |
T |
G |
2: 11,679,157 (GRCm39) |
L39R |
possibly damaging |
Het |
| Klk1b9 |
A |
T |
7: 43,628,711 (GRCm39) |
K72* |
probably null |
Het |
| Lmo7 |
A |
G |
14: 102,163,673 (GRCm39) |
|
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,393,582 (GRCm39) |
|
probably null |
Het |
| Or6b6 |
C |
T |
7: 106,570,808 (GRCm39) |
V248I |
probably damaging |
Het |
| Or7e169 |
G |
T |
9: 19,757,567 (GRCm39) |
A116E |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,545 (GRCm39) |
N112S |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,764,899 (GRCm39) |
C918S |
probably benign |
Het |
| Rasd2 |
G |
T |
8: 75,945,234 (GRCm39) |
R21L |
probably damaging |
Het |
| Sema4a |
A |
G |
3: 88,344,091 (GRCm39) |
M720T |
probably benign |
Het |
| Susd3 |
A |
G |
13: 49,392,181 (GRCm39) |
|
probably benign |
Het |
| Vmn1r235 |
T |
C |
17: 21,482,467 (GRCm39) |
M264T |
probably benign |
Het |
| Wls |
A |
G |
3: 159,617,428 (GRCm39) |
I368V |
possibly damaging |
Het |
| Ypel4 |
A |
G |
2: 84,567,182 (GRCm39) |
D5G |
probably benign |
Het |
| Zbtb38 |
C |
T |
9: 96,567,704 (GRCm39) |
G1127S |
probably damaging |
Het |
|
| Other mutations in Foxp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02191:Foxp1
|
APN |
6 |
98,922,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02330:Foxp1
|
APN |
6 |
98,922,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Foxp1
|
APN |
6 |
98,907,044 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02968:Foxp1
|
APN |
6 |
99,052,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Foxy
|
UTSW |
6 |
98,992,471 (GRCm39) |
nonsense |
probably null |
|
|
Moxie
|
UTSW |
6 |
98,992,475 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Roxie
|
UTSW |
6 |
98,918,595 (GRCm39) |
missense |
unknown |
|
|
R0037:Foxp1
|
UTSW |
6 |
99,139,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Foxp1
|
UTSW |
6 |
98,921,684 (GRCm39) |
splice site |
probably benign |
|
|
R0063:Foxp1
|
UTSW |
6 |
98,921,684 (GRCm39) |
splice site |
probably benign |
|
|
R0427:Foxp1
|
UTSW |
6 |
98,907,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Foxp1
|
UTSW |
6 |
98,907,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1356:Foxp1
|
UTSW |
6 |
98,993,637 (GRCm39) |
splice site |
probably benign |
|
|
R1468:Foxp1
|
UTSW |
6 |
98,955,181 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1468:Foxp1
|
UTSW |
6 |
98,955,181 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1548:Foxp1
|
UTSW |
6 |
98,922,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1696:Foxp1
|
UTSW |
6 |
98,922,663 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1933:Foxp1
|
UTSW |
6 |
99,052,926 (GRCm39) |
small deletion |
probably benign |
|
|
R2152:Foxp1
|
UTSW |
6 |
98,993,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2338:Foxp1
|
UTSW |
6 |
98,980,254 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3896:Foxp1
|
UTSW |
6 |
99,052,897 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5143:Foxp1
|
UTSW |
6 |
98,922,493 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5428:Foxp1
|
UTSW |
6 |
98,993,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5765:Foxp1
|
UTSW |
6 |
98,992,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5816:Foxp1
|
UTSW |
6 |
99,052,926 (GRCm39) |
small deletion |
probably benign |
|
|
R6172:Foxp1
|
UTSW |
6 |
98,992,475 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6172:Foxp1
|
UTSW |
6 |
98,992,471 (GRCm39) |
nonsense |
probably null |
|
|
R6173:Foxp1
|
UTSW |
6 |
98,992,475 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6173:Foxp1
|
UTSW |
6 |
98,992,471 (GRCm39) |
nonsense |
probably null |
|
|
R6175:Foxp1
|
UTSW |
6 |
98,943,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6776:Foxp1
|
UTSW |
6 |
99,052,926 (GRCm39) |
small deletion |
probably benign |
|
|
R6782:Foxp1
|
UTSW |
6 |
98,907,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Foxp1
|
UTSW |
6 |
98,912,373 (GRCm39) |
missense |
unknown |
|
|
R7559:Foxp1
|
UTSW |
6 |
98,922,521 (GRCm39) |
missense |
unknown |
|
|
R7715:Foxp1
|
UTSW |
6 |
98,922,621 (GRCm39) |
missense |
unknown |
|
|
R8007:Foxp1
|
UTSW |
6 |
98,918,595 (GRCm39) |
missense |
unknown |
|
|
R8099:Foxp1
|
UTSW |
6 |
98,922,510 (GRCm39) |
missense |
unknown |
|
|
R8317:Foxp1
|
UTSW |
6 |
99,052,866 (GRCm39) |
small deletion |
probably benign |
|
|
R8408:Foxp1
|
UTSW |
6 |
98,922,543 (GRCm39) |
missense |
unknown |
|
|
R8704:Foxp1
|
UTSW |
6 |
98,993,507 (GRCm39) |
missense |
unknown |
|
|
R8705:Foxp1
|
UTSW |
6 |
98,993,507 (GRCm39) |
missense |
unknown |
|
|
R9014:Foxp1
|
UTSW |
6 |
99,052,866 (GRCm39) |
small deletion |
probably benign |
|
|
R9147:Foxp1
|
UTSW |
6 |
99,052,866 (GRCm39) |
small deletion |
probably benign |
|
|
R9399:Foxp1
|
UTSW |
6 |
99,052,866 (GRCm39) |
small deletion |
probably benign |
|
|
R9604:Foxp1
|
UTSW |
6 |
99,052,926 (GRCm39) |
small deletion |
probably benign |
|
|
X0066:Foxp1
|
UTSW |
6 |
99,052,976 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Foxp1
|
UTSW |
6 |
98,955,122 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAAGGTTCATTCAACTCCAAG -3'
(R):5'- TTCTGGAAATCCTTCTCTCAGG -3'
Sequencing Primer
(F):5'- TAACAGTCACTCTCTTCGGAAGG -3'
(R):5'- GAAATCCTTCTCTCAGGTTTTTGAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation