Incidental Mutation 'R6175:Foxp1'
| ID |
487685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxp1
|
| Ensembl Gene |
ENSMUSG00000030067 |
| Gene Name |
forkhead box P1 |
| Synonyms |
3110052D19Rik, 4932443N09Rik |
| MMRRC Submission |
044317-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6175 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
98902299-99499682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98943037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 237
(T237I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074346]
[ENSMUST00000113322]
[ENSMUST00000113324]
[ENSMUST00000113326]
[ENSMUST00000113328]
[ENSMUST00000113329]
[ENSMUST00000124058]
[ENSMUST00000176565]
[ENSMUST00000176632]
[ENSMUST00000176850]
[ENSMUST00000177229]
[ENSMUST00000177230]
[ENSMUST00000177307]
[ENSMUST00000177437]
|
| AlphaFold |
P58462 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074346
AA Change: T366I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073953
Gene: ENSMUSG00000030067
AA Change: T366I
| 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: T366I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108948
Gene: ENSMUSG00000030067
AA Change: T366I
| 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 damaging
Transcript: ENSMUST00000113324
AA Change: T367I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108950
Gene: ENSMUSG00000030067
AA Change: T367I
| 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: T334I
|
| SMART Domains |
Protein: ENSMUSP00000108952
Gene: ENSMUSG00000030067
AA Change: T334I
| 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 damaging
Transcript: ENSMUST00000113328
AA Change: T367I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108954
Gene: ENSMUSG00000030067
AA Change: T367I
| 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: T366I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108955
Gene: ENSMUSG00000030067
AA Change: T366I
| 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 |
probably damaging
Transcript: ENSMUST00000124058
AA Change: T237I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120244
Gene: ENSMUSG00000030067
AA Change: T237I
| 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: ENSMUST00000176565
AA Change: T367I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135181
Gene: ENSMUSG00000030067
AA Change: T367I
| 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: T335I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135635
Gene: ENSMUSG00000030067
AA Change: T335I
| 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: T336I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135041
Gene: ENSMUSG00000030067
AA Change: T336I
| 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 damaging
Transcript: ENSMUST00000177229
AA Change: T238I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134817
Gene: ENSMUSG00000030067
AA Change: T238I
| 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 |
probably damaging
Transcript: ENSMUST00000177230
AA Change: T336I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135098
Gene: ENSMUSG00000030067
AA Change: T336I
| 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: T368I
|
| SMART Domains |
Protein: ENSMUSP00000135764
Gene: ENSMUSG00000030067
AA Change: T368I
| 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 |
probably damaging
Transcript: ENSMUST00000177437
AA Change: T237I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135809
Gene: ENSMUSG00000030067
AA Change: T237I
| 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 |
noncoding transcript
Transcript: ENSMUST00000142164
|
| Meta Mutation Damage Score |
0.1464 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (85/88) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,902,448 (GRCm39) |
K623E |
probably damaging |
Het |
| A530064D06Rik |
T |
A |
17: 48,460,016 (GRCm39) |
S227C |
possibly damaging |
Het |
| Adam30 |
A |
T |
3: 98,070,266 (GRCm39) |
I700F |
probably damaging |
Het |
| Adam5 |
A |
T |
8: 25,276,167 (GRCm39) |
M500K |
probably benign |
Het |
| Adgb |
A |
T |
10: 10,274,687 (GRCm39) |
S755T |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,534,124 (GRCm39) |
G5819D |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,763,557 (GRCm39) |
Y17N |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,969,918 (GRCm39) |
M745L |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,872,074 (GRCm39) |
|
probably null |
Het |
| Atg2a |
A |
T |
19: 6,291,759 (GRCm39) |
|
probably benign |
Het |
| AU021092 |
G |
T |
16: 5,038,312 (GRCm39) |
|
probably null |
Het |
| Bbs1 |
A |
T |
19: 4,940,749 (GRCm39) |
L578Q |
probably damaging |
Het |
| Brd9 |
A |
T |
13: 74,108,433 (GRCm39) |
E589D |
probably damaging |
Het |
| Calr4 |
A |
G |
4: 109,101,442 (GRCm39) |
D108G |
probably benign |
Het |
| Ccdc82 |
A |
G |
9: 13,272,798 (GRCm39) |
D429G |
probably damaging |
Het |
| Cdh22 |
G |
T |
2: 164,988,550 (GRCm39) |
N268K |
probably damaging |
Het |
| Ceacam12 |
G |
A |
7: 17,801,312 (GRCm39) |
G97D |
probably damaging |
Het |
| Clcn1 |
A |
G |
6: 42,291,096 (GRCm39) |
D990G |
probably damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,801,004 (GRCm39) |
T84A |
probably benign |
Het |
| Dnah7a |
G |
A |
1: 53,472,181 (GRCm39) |
P3529S |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Efna3 |
GAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGC |
3: 89,230,105 (GRCm39) |
|
probably benign |
Het |
| Ehd2 |
G |
A |
7: 15,697,389 (GRCm39) |
Q4* |
probably null |
Het |
| Eml5 |
A |
G |
12: 98,760,715 (GRCm39) |
V1726A |
possibly damaging |
Het |
| Esam |
A |
G |
9: 37,439,544 (GRCm39) |
T10A |
probably benign |
Het |
| Fbxl6 |
A |
G |
15: 76,422,633 (GRCm39) |
L95P |
probably benign |
Het |
| Fbxw18 |
T |
A |
9: 109,505,947 (GRCm39) |
L441F |
probably damaging |
Het |
| Fbxw4 |
A |
G |
19: 45,624,766 (GRCm39) |
S73P |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,991,479 (GRCm39) |
H739L |
unknown |
Het |
| Greb1 |
A |
T |
12: 16,724,771 (GRCm39) |
I1801N |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hoxa13 |
G |
T |
6: 52,236,908 (GRCm39) |
N281K |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,296,829 (GRCm39) |
T4328A |
probably damaging |
Het |
| Htr2a |
C |
G |
14: 74,882,474 (GRCm39) |
Y153* |
probably null |
Het |
| Iglv1 |
C |
A |
16: 18,903,844 (GRCm39) |
A92S |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,653,152 (GRCm39) |
S759P |
probably damaging |
Het |
| Kctd1 |
G |
T |
18: 15,102,688 (GRCm39) |
S831* |
probably null |
Het |
| Kif20a |
T |
A |
18: 34,761,199 (GRCm39) |
S265T |
probably damaging |
Het |
| Kif22 |
T |
A |
7: 126,630,228 (GRCm39) |
E436V |
possibly damaging |
Het |
| Kif27 |
A |
G |
13: 58,459,051 (GRCm39) |
W927R |
probably damaging |
Het |
| Lcorl |
G |
A |
5: 45,933,832 (GRCm39) |
P66L |
probably damaging |
Het |
| Lct |
A |
G |
1: 128,255,451 (GRCm39) |
L197P |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,762,714 (GRCm39) |
S14P |
unknown |
Het |
| Lnp1 |
A |
G |
16: 56,737,855 (GRCm39) |
S78P |
possibly damaging |
Het |
| Map3k19 |
A |
T |
1: 127,750,569 (GRCm39) |
H927Q |
probably benign |
Het |
| Meiosin |
C |
A |
7: 18,834,814 (GRCm39) |
|
probably benign |
Het |
| Mta3 |
A |
G |
17: 84,099,222 (GRCm39) |
T430A |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,282,875 (GRCm39) |
C627F |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,245,588 (GRCm39) |
D1076G |
probably benign |
Het |
| Nck2 |
T |
A |
1: 43,572,729 (GRCm39) |
M1K |
probably null |
Het |
| Nipal1 |
A |
G |
5: 72,820,898 (GRCm39) |
N131S |
probably damaging |
Het |
| Nlrp9c |
T |
C |
7: 26,077,426 (GRCm39) |
|
probably null |
Het |
| Nr2f2 |
A |
G |
7: 70,007,946 (GRCm39) |
S179P |
probably damaging |
Het |
| Or1j16 |
A |
G |
2: 36,530,063 (GRCm39) |
D4G |
probably benign |
Het |
| Or1j21 |
A |
T |
2: 36,683,980 (GRCm39) |
H244L |
probably damaging |
Het |
| Or9g19 |
A |
T |
2: 85,600,652 (GRCm39) |
N169I |
probably benign |
Het |
| Oxt |
G |
T |
2: 130,418,163 (GRCm39) |
|
probably benign |
Het |
| Pank2 |
T |
A |
2: 131,122,181 (GRCm39) |
Y235* |
probably null |
Het |
| Pear1 |
A |
G |
3: 87,659,440 (GRCm39) |
L798P |
possibly damaging |
Het |
| Pex14 |
T |
C |
4: 149,046,156 (GRCm39) |
H258R |
probably benign |
Het |
| Pmpcb |
A |
G |
5: 21,962,031 (GRCm39) |
I487V |
probably benign |
Het |
| Ppie |
T |
C |
4: 123,031,362 (GRCm39) |
E44G |
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 4,905,639 (GRCm39) |
R65* |
probably null |
Het |
| Ralgapb |
T |
C |
2: 158,288,075 (GRCm39) |
S371P |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 51,977,881 (GRCm39) |
H1455R |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,450,275 (GRCm39) |
T4107K |
possibly damaging |
Het |
| Sec24a |
G |
A |
11: 51,622,718 (GRCm39) |
T386M |
probably damaging |
Het |
| Slc10a4 |
A |
T |
5: 73,169,593 (GRCm39) |
Y207F |
possibly damaging |
Het |
| Slc30a10 |
T |
C |
1: 185,187,508 (GRCm39) |
L83P |
probably damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,840,093 (GRCm39) |
L324* |
probably null |
Het |
| Slc7a9 |
A |
T |
7: 35,165,277 (GRCm39) |
Q474L |
probably damaging |
Het |
| Smc5 |
C |
A |
19: 23,191,534 (GRCm39) |
V875L |
possibly damaging |
Het |
| Snap91 |
T |
C |
9: 86,707,053 (GRCm39) |
R246G |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,203,196 (GRCm39) |
|
probably null |
Het |
| Spink14 |
G |
A |
18: 44,164,938 (GRCm39) |
G85E |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| St13 |
A |
G |
15: 81,283,506 (GRCm39) |
|
probably null |
Het |
| Stk10 |
A |
G |
11: 32,553,761 (GRCm39) |
M593V |
possibly damaging |
Het |
| Tafa1 |
A |
G |
6: 96,092,721 (GRCm39) |
H35R |
probably benign |
Het |
| Tex21 |
C |
A |
12: 76,245,707 (GRCm39) |
A530S |
probably benign |
Het |
| Tln2 |
T |
A |
9: 67,131,363 (GRCm39) |
K1394N |
probably damaging |
Het |
| Trhr2 |
C |
A |
8: 123,084,118 (GRCm39) |
R294L |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,149,708 (GRCm39) |
I2408F |
probably damaging |
Het |
| Wdr24 |
T |
C |
17: 26,045,552 (GRCm39) |
L429P |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,210,039 (GRCm39) |
I139N |
possibly damaging |
Het |
| Zfp111 |
G |
A |
7: 23,897,554 (GRCm39) |
R686C |
unknown |
Het |
| Zfp268 |
A |
T |
4: 145,350,811 (GRCm39) |
|
probably benign |
Het |
| Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
probably benign |
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 |
|
|
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'- GTCCCACAGAGTTCGATGAAG -3'
(R):5'- CCGTGTGTCCAATTCTGTGG -3'
Sequencing Primer
(F):5'- TCCCACAGAGTTCGATGAAGCTAAG -3'
(R):5'- CTGCATAAGCATCCTGGT -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation