Incidental Mutation 'R4345:Foxp4'
| ID |
324312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxp4
|
| Ensembl Gene |
ENSMUSG00000023991 |
| Gene Name |
forkhead box P4 |
| Synonyms |
2310007G05Rik, 1200010K03Rik |
| MMRRC Submission |
041666-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.860)
|
| Stock # |
R4345 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
48178058-48235401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48185573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 500
(T500M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097311]
[ENSMUST00000113262]
[ENSMUST00000113263]
[ENSMUST00000113265]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000097311
AA Change: T513M
|
| SMART Domains |
Protein: ENSMUSP00000094916
Gene: ENSMUSG00000023991
AA Change: T513M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
308 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
313 |
338 |
3.47e0 |
SMART |
|
FH
|
470 |
552 |
4.69e-38 |
SMART |
|
low complexity region
|
644 |
658 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
683 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000113262
AA Change: T501M
|
| SMART Domains |
Protein: ENSMUSP00000108887
Gene: ENSMUSG00000023991
AA Change: T501M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
308 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
313 |
338 |
3.47e0 |
SMART |
|
FH
|
458 |
540 |
4.69e-38 |
SMART |
|
low complexity region
|
632 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
659 |
671 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000113263
AA Change: T511M
|
| SMART Domains |
Protein: ENSMUSP00000108888
Gene: ENSMUSG00000023991
AA Change: T511M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
257 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
311 |
336 |
3.47e0 |
SMART |
|
FH
|
468 |
550 |
4.69e-38 |
SMART |
|
low complexity region
|
642 |
656 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
681 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000113265
AA Change: T500M
|
| SMART Domains |
Protein: ENSMUSP00000108890
Gene: ENSMUSG00000023991
AA Change: T500M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
87 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
208 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
214 |
282 |
3.94e-5 |
PROSPERO |
|
low complexity region
|
296 |
307 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
312 |
337 |
3.47e0 |
SMART |
|
FH
|
457 |
539 |
4.69e-38 |
SMART |
|
internal_repeat_1
|
571 |
627 |
3.94e-5 |
PROSPERO |
|
low complexity region
|
631 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
670 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154108
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die before E12.5. Foregut closure is delayed leading to the development of two beating hearts and to the failure of the trachea and esophagus to separate. [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 |
|---|
| Asap2 |
T |
C |
12: 21,280,832 (GRCm39) |
W449R |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,329,602 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
C |
6: 122,827,659 (GRCm39) |
D186G |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,038,568 (GRCm39) |
V851A |
probably benign |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Gramd4 |
T |
C |
15: 86,019,094 (GRCm39) |
S581P |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,067,940 (GRCm39) |
V1816E |
possibly damaging |
Het |
| Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,337,084 (GRCm39) |
D224G |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Lactb2 |
T |
A |
1: 13,730,574 (GRCm39) |
Y34F |
probably damaging |
Het |
| Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,486,697 (GRCm39) |
I1261V |
possibly damaging |
Het |
| Map4k3 |
A |
G |
17: 80,904,980 (GRCm39) |
|
probably null |
Het |
| Mcee |
T |
C |
7: 64,061,686 (GRCm39) |
L109P |
probably damaging |
Het |
| Mier3 |
A |
G |
13: 111,841,817 (GRCm39) |
D124G |
probably damaging |
Het |
| Mrpl43 |
T |
C |
19: 44,994,549 (GRCm39) |
Y64C |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
| Nsd3 |
G |
C |
8: 26,131,333 (GRCm39) |
G233R |
probably benign |
Het |
| Or2ak7 |
A |
G |
11: 58,574,771 (GRCm39) |
D24G |
possibly damaging |
Het |
| Or8k27 |
T |
A |
2: 86,276,189 (GRCm39) |
I46F |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,288,560 (GRCm39) |
T947A |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Pno1 |
A |
G |
11: 17,159,095 (GRCm39) |
S158P |
possibly damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,920 (GRCm39) |
S1192P |
probably damaging |
Het |
| Setbp1 |
T |
A |
18: 79,129,794 (GRCm39) |
E146V |
probably damaging |
Het |
| Slc9a5 |
T |
C |
8: 106,076,087 (GRCm39) |
S27P |
probably benign |
Het |
| Sri |
G |
T |
5: 8,109,427 (GRCm39) |
|
probably null |
Het |
| Stard9 |
G |
A |
2: 120,532,427 (GRCm39) |
V2895I |
probably benign |
Het |
| Tgfbrap1 |
T |
C |
1: 43,095,866 (GRCm39) |
D524G |
probably benign |
Het |
| Them4 |
A |
G |
3: 94,237,172 (GRCm39) |
T211A |
possibly damaging |
Het |
| Thoc2l |
A |
G |
5: 104,669,315 (GRCm39) |
E1279G |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,875,061 (GRCm39) |
S568C |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,917,778 (GRCm39) |
L80P |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,586,660 (GRCm39) |
N13423K |
possibly damaging |
Het |
| Usp10 |
T |
A |
8: 120,681,553 (GRCm39) |
L670Q |
probably damaging |
Het |
| Usp4 |
T |
A |
9: 108,245,222 (GRCm39) |
|
probably benign |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,963 (GRCm39) |
T162S |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,034,083 (GRCm39) |
N376S |
probably benign |
Het |
| Zswim6 |
G |
T |
13: 107,863,466 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Foxp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01353:Foxp4
|
APN |
17 |
48,199,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02454:Foxp4
|
APN |
17 |
48,186,507 (GRCm39) |
nonsense |
probably null |
|
|
IGL03048:Foxp4
|
UTSW |
17 |
48,191,765 (GRCm39) |
missense |
unknown |
|
|
R0138:Foxp4
|
UTSW |
17 |
48,180,104 (GRCm39) |
missense |
unknown |
|
|
R1180:Foxp4
|
UTSW |
17 |
48,191,278 (GRCm39) |
splice site |
probably benign |
|
|
R1268:Foxp4
|
UTSW |
17 |
48,191,278 (GRCm39) |
splice site |
probably benign |
|
|
R1282:Foxp4
|
UTSW |
17 |
48,186,568 (GRCm39) |
missense |
unknown |
|
|
R1494:Foxp4
|
UTSW |
17 |
48,191,278 (GRCm39) |
splice site |
probably benign |
|
|
R1845:Foxp4
|
UTSW |
17 |
48,188,884 (GRCm39) |
missense |
probably null |
|
|
R1956:Foxp4
|
UTSW |
17 |
48,186,796 (GRCm39) |
missense |
unknown |
|
|
R1958:Foxp4
|
UTSW |
17 |
48,186,796 (GRCm39) |
missense |
unknown |
|
|
R1969:Foxp4
|
UTSW |
17 |
48,186,796 (GRCm39) |
missense |
unknown |
|
|
R1970:Foxp4
|
UTSW |
17 |
48,186,796 (GRCm39) |
missense |
unknown |
|
|
R1971:Foxp4
|
UTSW |
17 |
48,186,796 (GRCm39) |
missense |
unknown |
|
|
R2240:Foxp4
|
UTSW |
17 |
48,182,201 (GRCm39) |
missense |
unknown |
|
|
R3847:Foxp4
|
UTSW |
17 |
48,186,453 (GRCm39) |
missense |
unknown |
|
|
R3848:Foxp4
|
UTSW |
17 |
48,186,453 (GRCm39) |
missense |
unknown |
|
|
R3849:Foxp4
|
UTSW |
17 |
48,186,453 (GRCm39) |
missense |
unknown |
|
|
R5572:Foxp4
|
UTSW |
17 |
48,191,804 (GRCm39) |
missense |
unknown |
|
|
R5726:Foxp4
|
UTSW |
17 |
48,180,033 (GRCm39) |
missense |
unknown |
|
|
R6386:Foxp4
|
UTSW |
17 |
48,189,387 (GRCm39) |
missense |
unknown |
|
|
R6510:Foxp4
|
UTSW |
17 |
48,186,335 (GRCm39) |
missense |
unknown |
|
|
R8087:Foxp4
|
UTSW |
17 |
48,215,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Foxp4
|
UTSW |
17 |
48,191,778 (GRCm39) |
missense |
unknown |
|
|
R9272:Foxp4
|
UTSW |
17 |
48,180,033 (GRCm39) |
missense |
unknown |
|
|
X0025:Foxp4
|
UTSW |
17 |
48,188,890 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACACTGGAGTTGCTGCTG -3'
(R):5'- ATTAGCCTAGCGGGGAATCC -3'
Sequencing Primer
(F):5'- AGTTGCTGCTGAGGGGAC -3'
(R):5'- TGGGTCTCCTGTCCTCAAGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation