Incidental Mutation 'R8433:Foxk1'
| ID |
653854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxk1
|
| Ensembl Gene |
ENSMUSG00000056493 |
| Gene Name |
forkhead box K1 |
| Synonyms |
A630048H08Rik, Mnf |
| MMRRC Submission |
067823-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.767)
|
| Stock # |
R8433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
142387252-142447766 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142434539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 268
(F268L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072837]
|
| AlphaFold |
P42128 |
| PDB Structure |
Solution structure and Dynamics of DNA-Binding Domain of Myocyte Nuclear Factor [SOLUTION NMR]
Solution structure and Dynamics of the DNA-Binding Domain of Myocyte Nuclear Factor [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072837
AA Change: F268L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000072616
Gene: ENSMUSG00000056493
AA Change: F268L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
19 |
84 |
N/A |
INTRINSIC |
|
FHA
|
108 |
161 |
1.14e-9 |
SMART |
|
low complexity region
|
261 |
281 |
N/A |
INTRINSIC |
|
FH
|
289 |
380 |
1.31e-50 |
SMART |
|
Blast:FH
|
402 |
458 |
8e-28 |
BLAST |
|
low complexity region
|
627 |
642 |
N/A |
INTRINSIC |
|
low complexity region
|
652 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
713 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are runted and exhibit a reduced myogenic progenitor cell population with impaired cell cycle progression (G0/G1 arrest) and decreased proliferative capacity that results in severe impairment of skeletal muscle regeneration following injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh1 |
A |
G |
4: 117,085,535 (GRCm39) |
V227A |
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,276 (GRCm39) |
Y57N |
probably damaging |
Het |
| Chtf18 |
A |
G |
17: 25,945,918 (GRCm39) |
S90P |
probably benign |
Het |
| Eral1 |
A |
G |
11: 77,966,309 (GRCm39) |
S290P |
probably benign |
Het |
| Gsta3 |
A |
G |
1: 21,335,172 (GRCm39) |
K218E |
probably benign |
Het |
| Mapk8ip2 |
G |
A |
15: 89,342,069 (GRCm39) |
A427T |
probably benign |
Het |
| Mtch2 |
T |
A |
2: 90,677,505 (GRCm39) |
|
probably benign |
Het |
| Ndufc1 |
A |
G |
3: 51,316,311 (GRCm39) |
L14P |
probably damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,991 (GRCm39) |
I112N |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,770,931 (GRCm39) |
F89S |
probably damaging |
Het |
| Or8k53 |
G |
A |
2: 86,177,144 (GRCm39) |
P322L |
unknown |
Het |
| Parn |
C |
A |
16: 13,485,413 (GRCm39) |
D28Y |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,627,759 (GRCm39) |
G229R |
probably damaging |
Het |
| Prpf3 |
A |
G |
3: 95,758,963 (GRCm39) |
V63A |
probably damaging |
Het |
| Ptger3 |
A |
C |
3: 157,349,592 (GRCm39) |
*363C |
probably null |
Het |
| Rnf6 |
A |
G |
5: 146,148,088 (GRCm39) |
V310A |
probably damaging |
Het |
| Scarf1 |
G |
A |
11: 75,411,858 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
G |
A |
5: 31,194,806 (GRCm39) |
A530V |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Svop |
A |
G |
5: 114,170,822 (GRCm39) |
C406R |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,924,790 (GRCm39) |
S1452L |
possibly damaging |
Het |
| Tpx2 |
A |
G |
2: 152,722,056 (GRCm39) |
E216G |
probably damaging |
Het |
| Trim39 |
A |
G |
17: 36,571,597 (GRCm39) |
V387A |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,677,187 (GRCm39) |
K2039* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,718,600 (GRCm39) |
L464I |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,058,495 (GRCm39) |
D562N |
probably damaging |
Het |
| Zfp541 |
C |
T |
7: 15,805,999 (GRCm39) |
L45F |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,844,007 (GRCm39) |
Y1015C |
possibly damaging |
Het |
|
| Other mutations in Foxk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01331:Foxk1
|
APN |
5 |
142,439,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02122:Foxk1
|
APN |
5 |
142,437,184 (GRCm39) |
splice site |
probably benign |
|
|
IGL02686:Foxk1
|
APN |
5 |
142,439,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0027:Foxk1
|
UTSW |
5 |
142,436,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0217:Foxk1
|
UTSW |
5 |
142,387,649 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0256:Foxk1
|
UTSW |
5 |
142,439,436 (GRCm39) |
splice site |
probably benign |
|
|
R0481:Foxk1
|
UTSW |
5 |
142,434,578 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1941:Foxk1
|
UTSW |
5 |
142,442,429 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2128:Foxk1
|
UTSW |
5 |
142,420,943 (GRCm39) |
nonsense |
probably null |
|
|
R2129:Foxk1
|
UTSW |
5 |
142,420,943 (GRCm39) |
nonsense |
probably null |
|
|
R2356:Foxk1
|
UTSW |
5 |
142,441,164 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5156:Foxk1
|
UTSW |
5 |
142,434,588 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5958:Foxk1
|
UTSW |
5 |
142,442,429 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7686:Foxk1
|
UTSW |
5 |
142,387,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8141:Foxk1
|
UTSW |
5 |
142,439,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8406:Foxk1
|
UTSW |
5 |
142,387,528 (GRCm39) |
missense |
unknown |
|
|
R9135:Foxk1
|
UTSW |
5 |
142,434,497 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9487:Foxk1
|
UTSW |
5 |
142,437,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9567:Foxk1
|
UTSW |
5 |
142,387,713 (GRCm39) |
nonsense |
probably null |
|
|
R9790:Foxk1
|
UTSW |
5 |
142,387,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9791:Foxk1
|
UTSW |
5 |
142,387,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGTGTTGTTGCCAGTAG -3'
(R):5'- TAGACGGATCCTTCAATGCAG -3'
Sequencing Primer
(F):5'- CATCATCCGTGGTGATTTGGAGAC -3'
(R):5'- GGATCCTTCAATGCAGCCATGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation