Incidental Mutation 'R8705:Foxp1'
| ID |
669229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxp1
|
| Ensembl Gene |
ENSMUSG00000030067 |
| Gene Name |
forkhead box P1 |
| Synonyms |
3110052D19Rik, 4932443N09Rik |
| MMRRC Submission |
068559-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8705 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
98902299-99499682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 98993507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 132
(Q132H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074346]
[ENSMUST00000113322]
[ENSMUST00000113324]
[ENSMUST00000113326]
[ENSMUST00000113328]
[ENSMUST00000113329]
[ENSMUST00000123992]
[ENSMUST00000124058]
[ENSMUST00000154163]
[ENSMUST00000175670]
[ENSMUST00000175886]
[ENSMUST00000176565]
[ENSMUST00000176632]
[ENSMUST00000176850]
[ENSMUST00000177229]
[ENSMUST00000177230]
[ENSMUST00000177307]
[ENSMUST00000177437]
[ENSMUST00000177507]
|
| AlphaFold |
P58462 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074346
AA Change: Q164H
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073953
Gene: ENSMUSG00000030067
AA Change: Q164H
| 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 |
possibly damaging
Transcript: ENSMUST00000113322
AA Change: Q164H
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108948
Gene: ENSMUSG00000030067
AA Change: Q164H
| 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 |
possibly damaging
Transcript: ENSMUST00000113324
AA Change: Q164H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108950
Gene: ENSMUSG00000030067
AA Change: Q164H
| 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 |
unknown
Transcript: ENSMUST00000113326
AA Change: Q132H
|
| SMART Domains |
Protein: ENSMUSP00000108952
Gene: ENSMUSG00000030067
AA Change: Q132H
| 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 |
possibly damaging
Transcript: ENSMUST00000113328
AA Change: Q164H
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108954
Gene: ENSMUSG00000030067
AA Change: Q164H
| 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 |
possibly damaging
Transcript: ENSMUST00000113329
AA Change: Q164H
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108955
Gene: ENSMUSG00000030067
AA Change: Q164H
| 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 |
possibly damaging
Transcript: ENSMUST00000123992
AA Change: Q34H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117550
Gene: ENSMUSG00000030067
AA Change: Q34H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124058
AA Change: Q34H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120244
Gene: ENSMUSG00000030067
AA Change: Q34H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
201 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
205 |
230 |
8.67e-1 |
SMART |
|
low complexity region
|
242 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154163
AA Change: Q34H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121404
Gene: ENSMUSG00000030067
AA Change: Q34H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175670
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000175886
AA Change: Q34H
|
| SMART Domains |
Protein: ENSMUSP00000135517
Gene: ENSMUSG00000030067
AA Change: Q34H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
105 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176565
AA Change: Q164H
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135181
Gene: ENSMUSG00000030067
AA Change: Q164H
| 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 |
possibly damaging
Transcript: ENSMUST00000176632
AA Change: Q132H
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135635
Gene: ENSMUSG00000030067
AA Change: Q132H
| 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 |
possibly damaging
Transcript: ENSMUST00000176850
AA Change: Q132H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135041
Gene: ENSMUSG00000030067
AA Change: Q132H
| 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: ENSMUST00000177229
AA Change: Q34H
|
| SMART Domains |
Protein: ENSMUSP00000134817
Gene: ENSMUSG00000030067
AA Change: Q34H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
202 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
206 |
231 |
8.67e-1 |
SMART |
|
low complexity region
|
243 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
FH
|
363 |
444 |
2.07e-39 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177230
AA Change: Q132H
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135098
Gene: ENSMUSG00000030067
AA Change: Q132H
| 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: ENSMUST00000177307
AA Change: Q164H
|
| SMART Domains |
Protein: ENSMUSP00000135764
Gene: ENSMUSG00000030067
AA Change: Q164H
| 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 |
possibly damaging
Transcript: ENSMUST00000177437
AA Change: Q34H
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135809
Gene: ENSMUSG00000030067
AA Change: Q34H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
201 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
205 |
230 |
8.67e-1 |
SMART |
|
low complexity region
|
242 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
317 |
N/A |
INTRINSIC |
|
FH
|
362 |
443 |
2.07e-39 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177507
AA Change: Q34H
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134869
Gene: ENSMUSG00000030067
AA Change: Q34H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
104 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
97% (36/37) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
G |
T |
13: 4,484,447 (GRCm39) |
G20W |
probably damaging |
Het |
| Ces1c |
A |
G |
8: 93,857,518 (GRCm39) |
L21P |
probably benign |
Het |
| Col11a2 |
G |
T |
17: 34,268,769 (GRCm39) |
G394V |
unknown |
Het |
| Cyp2c70 |
A |
G |
19: 40,168,948 (GRCm39) |
V113A |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,839,260 (GRCm39) |
D1593V |
probably benign |
Het |
| Frzb |
G |
A |
2: 80,277,241 (GRCm39) |
|
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,525,156 (GRCm39) |
D276G |
probably damaging |
Het |
| Gdf7 |
C |
T |
12: 8,348,167 (GRCm39) |
E377K |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,753,132 (GRCm39) |
F36L |
possibly damaging |
Het |
| Gm40460 |
A |
T |
7: 141,794,734 (GRCm39) |
C28S |
unknown |
Het |
| Hnrnpd |
A |
G |
5: 100,111,588 (GRCm39) |
|
probably benign |
Het |
| Hsd17b11 |
G |
A |
5: 104,140,703 (GRCm39) |
L265F |
probably benign |
Het |
| Hyal6 |
G |
A |
6: 24,734,673 (GRCm39) |
R202H |
probably benign |
Het |
| Igkv5-43 |
A |
G |
6: 69,800,592 (GRCm39) |
S32P |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,907 (GRCm39) |
Y860C |
probably damaging |
Het |
| Krt79 |
G |
A |
15: 101,846,441 (GRCm39) |
T169M |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,820,354 (GRCm39) |
C3296Y |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,148,729 (GRCm39) |
I1200K |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,902,495 (GRCm39) |
Y78* |
probably null |
Het |
| Napb |
A |
G |
2: 148,542,396 (GRCm39) |
V188A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,148,795 (GRCm39) |
Y2584C |
probably damaging |
Het |
| Or52e8 |
T |
C |
7: 104,624,446 (GRCm39) |
I253V |
possibly damaging |
Het |
| P4htm |
G |
A |
9: 108,457,240 (GRCm39) |
A381V |
probably damaging |
Het |
| Pcdha8 |
T |
A |
18: 37,126,906 (GRCm39) |
F463I |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,775,612 (GRCm39) |
T1030A |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,838,651 (GRCm39) |
F615L |
unknown |
Het |
| Prrc2a |
A |
G |
17: 35,372,542 (GRCm39) |
S1700P |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Sf3b5 |
G |
T |
10: 12,884,554 (GRCm39) |
R63L |
probably damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,802,591 (GRCm39) |
L308P |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 41,368,032 (GRCm39) |
T599S |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,987,012 (GRCm39) |
N184S |
possibly damaging |
Het |
| Traf3 |
A |
G |
12: 111,208,938 (GRCm39) |
E119G |
possibly damaging |
Het |
| Trim24 |
T |
C |
6: 37,880,588 (GRCm39) |
|
probably benign |
Het |
| Ubxn11 |
A |
T |
4: 133,853,551 (GRCm39) |
I368F |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,207,188 (GRCm39) |
G151D |
probably damaging |
Het |
| Wfdc16 |
T |
A |
2: 164,480,395 (GRCm39) |
R33S |
possibly damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,433 (GRCm39) |
V382A |
possibly 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 |
|
R5006:Foxp1
|
UTSW |
6 |
99,139,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
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'- GCATCTTTCCAGTCCTTCAGGG -3'
(R):5'- TGCCATCTATACATGGGAAAGTCG -3'
Sequencing Primer
(F):5'- AGTCCTTCAGGGGCGCG -3'
(R):5'- TGAACCTGCGAGACTGTGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation