Incidental Mutation 'R5428:Foxp1'
| ID |
427007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxp1
|
| Ensembl Gene |
ENSMUSG00000030067 |
| Gene Name |
forkhead box P1 |
| Synonyms |
3110052D19Rik, 4932443N09Rik |
| MMRRC Submission |
042994-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
98902299-99499682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98993592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 104
(V104A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074346]
[ENSMUST00000113322]
[ENSMUST00000113324]
[ENSMUST00000113326]
[ENSMUST00000113328]
[ENSMUST00000113329]
[ENSMUST00000175670]
[ENSMUST00000123992]
[ENSMUST00000124058]
[ENSMUST00000154163]
[ENSMUST00000175886]
[ENSMUST00000176565]
[ENSMUST00000176632]
[ENSMUST00000176850]
[ENSMUST00000177229]
[ENSMUST00000177230]
[ENSMUST00000177307]
[ENSMUST00000177437]
[ENSMUST00000177507]
|
| AlphaFold |
P58462 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074346
AA Change: V136A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000073953
Gene: ENSMUSG00000030067
AA Change: V136A
| 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: ENSMUST00000113321
|
| SMART Domains |
Protein: ENSMUSP00000108947
Gene: ENSMUSG00000030067
| 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 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113322
AA Change: V136A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108948
Gene: ENSMUSG00000030067
AA Change: V136A
| 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: V136A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108950
Gene: ENSMUSG00000030067
AA Change: V136A
| 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: V104A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108952
Gene: ENSMUSG00000030067
AA Change: V104A
| 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: V136A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108954
Gene: ENSMUSG00000030067
AA Change: V136A
| 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: V136A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108955
Gene: ENSMUSG00000030067
AA Change: V136A
| 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 |
unknown
Transcript: ENSMUST00000175670
AA Change: V6A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123992
AA Change: V6A
|
| SMART Domains |
Protein: ENSMUSP00000117550
Gene: ENSMUSG00000030067
AA Change: V6A
| 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 |
unknown
Transcript: ENSMUST00000124058
AA Change: V6A
|
| SMART Domains |
Protein: ENSMUSP00000120244
Gene: ENSMUSG00000030067
AA Change: V6A
| 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 |
unknown
Transcript: ENSMUST00000154163
AA Change: V6A
|
| SMART Domains |
Protein: ENSMUSP00000121404
Gene: ENSMUSG00000030067
AA Change: V6A
| 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 |
unknown
Transcript: ENSMUST00000175886
AA Change: V6A
|
| SMART Domains |
Protein: ENSMUSP00000135517
Gene: ENSMUSG00000030067
AA Change: V6A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
105 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176565
AA Change: V136A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135181
Gene: ENSMUSG00000030067
AA Change: V136A
| 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 damaging
Transcript: ENSMUST00000176632
AA Change: V104A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135635
Gene: ENSMUSG00000030067
AA Change: V104A
| 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 damaging
Transcript: ENSMUST00000176850
AA Change: V104A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135041
Gene: ENSMUSG00000030067
AA Change: V104A
| 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: V6A
|
| SMART Domains |
Protein: ENSMUSP00000134817
Gene: ENSMUSG00000030067
AA Change: V6A
| 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: V104A
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135098
Gene: ENSMUSG00000030067
AA Change: V104A
| 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 |
probably benign
Transcript: ENSMUST00000177307
AA Change: V136A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135764
Gene: ENSMUSG00000030067
AA Change: V136A
| 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 |
unknown
Transcript: ENSMUST00000177437
AA Change: V6A
|
| SMART Domains |
Protein: ENSMUSP00000135809
Gene: ENSMUSG00000030067
AA Change: V6A
| 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 |
unknown
Transcript: ENSMUST00000177507
AA Change: V6A
|
| SMART Domains |
Protein: ENSMUSP00000134869
Gene: ENSMUSG00000030067
AA Change: V6A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
104 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1152 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (62/63) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
G |
C |
18: 6,635,918 (GRCm39) |
V324L |
probably benign |
Het |
| Abl2 |
T |
C |
1: 156,469,681 (GRCm39) |
C982R |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,248,323 (GRCm39) |
C665Y |
probably damaging |
Het |
| Adra1d |
A |
G |
2: 131,403,323 (GRCm39) |
S256P |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,921,313 (GRCm39) |
Y194F |
probably benign |
Het |
| Arfgef1 |
C |
A |
1: 10,231,060 (GRCm39) |
D1150Y |
probably damaging |
Het |
| Arl14epl |
A |
T |
18: 47,059,387 (GRCm39) |
M1L |
possibly damaging |
Het |
| Colgalt1 |
G |
T |
8: 72,075,420 (GRCm39) |
R442L |
probably damaging |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dach1 |
A |
G |
14: 98,406,705 (GRCm39) |
V14A |
unknown |
Het |
| Defa30 |
A |
G |
8: 21,625,419 (GRCm39) |
D61G |
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,266,804 (GRCm39) |
C308S |
probably benign |
Het |
| Emc4 |
A |
G |
2: 112,197,700 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
G |
5: 150,328,824 (GRCm39) |
L1319R |
possibly damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gja10 |
T |
A |
4: 32,601,169 (GRCm39) |
H405L |
probably benign |
Het |
| Gm27047 |
A |
G |
6: 130,607,527 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
T |
A |
10: 10,595,307 (GRCm39) |
T774S |
probably damaging |
Het |
| Gtse1 |
A |
C |
15: 85,746,340 (GRCm39) |
D52A |
probably benign |
Het |
| Kctd17 |
T |
A |
15: 78,312,982 (GRCm39) |
F42Y |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,488,878 (GRCm39) |
K178E |
probably damaging |
Het |
| Lrrc74b |
T |
C |
16: 17,376,125 (GRCm39) |
E175G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,278,661 (GRCm39) |
I5927T |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,191 (GRCm39) |
N935S |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 65,019,295 (GRCm39) |
I720V |
probably benign |
Het |
| Map3k5 |
C |
T |
10: 19,899,399 (GRCm39) |
H219Y |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,884,787 (GRCm39) |
T314A |
possibly damaging |
Het |
| Mast3 |
A |
G |
8: 71,237,377 (GRCm39) |
V615A |
possibly damaging |
Het |
| Mcmbp |
C |
T |
7: 128,306,248 (GRCm39) |
V457I |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Nacc1 |
T |
C |
8: 85,402,783 (GRCm39) |
I337V |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,359,780 (GRCm39) |
D1475G |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,457,137 (GRCm39) |
D392E |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,642,355 (GRCm39) |
T1297A |
possibly damaging |
Het |
| Plag1 |
C |
T |
4: 3,905,538 (GRCm39) |
V51I |
possibly damaging |
Het |
| Ppp1r12a |
G |
A |
10: 108,089,208 (GRCm39) |
E616K |
possibly damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,135,280 (GRCm39) |
M415V |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,176,414 (GRCm39) |
E1683K |
probably damaging |
Het |
| Rap2a |
T |
A |
14: 120,716,406 (GRCm39) |
F90I |
probably benign |
Het |
| Rcvrn |
A |
G |
11: 67,590,875 (GRCm39) |
E153G |
possibly damaging |
Het |
| Sharpin |
C |
A |
15: 76,234,866 (GRCm39) |
|
probably benign |
Het |
| Skil |
T |
A |
3: 31,151,647 (GRCm39) |
D56E |
probably benign |
Het |
| Slc22a18 |
G |
T |
7: 143,033,082 (GRCm39) |
G57W |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Synj1 |
T |
C |
16: 90,788,406 (GRCm39) |
D154G |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,400,746 (GRCm39) |
N156K |
probably benign |
Het |
| Tcea1 |
A |
T |
1: 4,950,568 (GRCm39) |
|
probably benign |
Het |
| Tmc3 |
T |
C |
7: 83,261,755 (GRCm39) |
V611A |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,591,588 (GRCm39) |
M1V |
probably null |
Het |
| Tomm5 |
A |
T |
4: 45,106,689 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,736,620 (GRCm39) |
K1207R |
probably null |
Het |
| Ttn |
T |
C |
2: 76,591,448 (GRCm39) |
T12747A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,715,480 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
C |
10: 12,569,175 (GRCm39) |
D1147G |
probably benign |
Het |
| Vmn1r53 |
T |
C |
6: 90,200,395 (GRCm39) |
I310V |
probably benign |
Het |
| Washc4 |
A |
C |
10: 83,410,386 (GRCm39) |
D658A |
probably benign |
Het |
| Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,077,003 (GRCm39) |
F1243L |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,784 (GRCm39) |
S605P |
probably benign |
Het |
| Zfy1 |
T |
G |
Y: 726,205 (GRCm39) |
H520P |
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 |
|
|
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'- GAACCAGGTGGGATTCTGTC -3'
(R):5'- ACAAGGGTTTGCATAGGGTCTG -3'
Sequencing Primer
(F):5'- ATGTCCATTCTCCAACAGGG -3'
(R):5'- GCATAGGGTCTGTGCTTATATCTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation