Incidental Mutation 'R5666:Foxm1'
| ID |
444424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Foxm1
|
| Ensembl Gene |
ENSMUSG00000001517 |
| Gene Name |
forkhead box M1 |
| Synonyms |
Foxm1b, Trident, Fkh16, WIN, Mpm2, HFH-11B |
| MMRRC Submission |
043309-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5666 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
128339957-128352849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 128350130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 339
(S339L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073316]
[ENSMUST00000100926]
[ENSMUST00000112148]
[ENSMUST00000130785]
[ENSMUST00000203040]
[ENSMUST00000204223]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073316
AA Change: S492L
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073041
Gene: ENSMUSG00000001517
AA Change: S492L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
158 |
N/A |
INTRINSIC |
|
FH
|
232 |
319 |
2.86e-42 |
SMART |
|
low complexity region
|
429 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
702 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100926
|
| SMART Domains |
Protein: ENSMUSP00000098486
Gene: ENSMUSG00000079304
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
Pfam:DUF4532
|
28 |
306 |
1.9e-158 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112148
AA Change: S477L
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107776
Gene: ENSMUSG00000001517
AA Change: S477L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
158 |
N/A |
INTRINSIC |
|
FH
|
232 |
319 |
2.86e-42 |
SMART |
|
low complexity region
|
414 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
687 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125456
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130785
|
| SMART Domains |
Protein: ENSMUSP00000145112
Gene: ENSMUSG00000079304
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
Pfam:DUF4532
|
28 |
223 |
3.9e-108 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136395
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153423
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203040
AA Change: S339L
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145305
Gene: ENSMUSG00000001517
AA Change: S339L
| Domain | Start | End | E-Value | Type |
|---|
|
FH
|
78 |
165 |
1.2e-44 |
SMART |
|
low complexity region
|
276 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204223
|
| SMART Domains |
Protein: ENSMUSP00000145012
Gene: ENSMUSG00000108011
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203779
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203258
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional activator involved in cell proliferation. The encoded protein is phosphorylated in M phase and regulates the expression of several cell cycle genes, such as cyclin B1 and cyclin D1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null allele die in utero exhibiting reduced hepatoblast mitosis, impaired liver, bile duct and lung development, myocardial defects and ventricular hypoplasia. Most homozygotes for another null allele die perinatally with myocardialdefects and polyploidy in heart and liver. [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 |
|---|
| 4930524J08Rik |
T |
C |
5: 100,127,068 (GRCm39) |
|
probably benign |
Het |
| Abce1 |
C |
A |
8: 80,416,906 (GRCm39) |
E368D |
probably benign |
Het |
| Becn2 |
C |
T |
1: 175,749,179 (GRCm39) |
T415M |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,384,759 (GRCm39) |
M588K |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,338,433 (GRCm39) |
E503G |
probably benign |
Het |
| Btla |
A |
T |
16: 45,070,782 (GRCm39) |
D247V |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,684,559 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,244,177 (GRCm39) |
E1202G |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,182,457 (GRCm39) |
I3568V |
possibly damaging |
Het |
| Col4a4 |
A |
G |
1: 82,463,300 (GRCm39) |
|
probably null |
Het |
| Cpxm2 |
C |
T |
7: 131,656,625 (GRCm39) |
E546K |
probably benign |
Het |
| Cyp2j5 |
C |
T |
4: 96,546,930 (GRCm39) |
V195I |
probably benign |
Het |
| Ddb2 |
C |
T |
2: 91,042,926 (GRCm39) |
V353M |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,519,364 (GRCm39) |
T791I |
probably benign |
Het |
| Dtd2 |
T |
A |
12: 52,046,643 (GRCm39) |
L65F |
probably damaging |
Het |
| E2f1 |
T |
A |
2: 154,411,101 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,041,241 (GRCm39) |
N732S |
probably benign |
Het |
| Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,894,510 (GRCm39) |
R225S |
probably benign |
Het |
| Gfpt1 |
A |
T |
6: 87,030,795 (GRCm39) |
I60F |
possibly damaging |
Het |
| Glce |
A |
G |
9: 61,967,793 (GRCm39) |
S453P |
probably damaging |
Het |
| Gm4787 |
G |
A |
12: 81,424,805 (GRCm39) |
T451I |
probably benign |
Het |
| Hs2st1 |
A |
T |
3: 144,275,554 (GRCm39) |
V22E |
probably damaging |
Het |
| Hspa9 |
T |
C |
18: 35,087,300 (GRCm39) |
I2V |
probably null |
Het |
| Ikzf2 |
A |
G |
1: 69,617,059 (GRCm39) |
V96A |
probably benign |
Het |
| Ilkap |
T |
C |
1: 91,318,863 (GRCm39) |
T38A |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,739,250 (GRCm39) |
T353A |
probably benign |
Het |
| Myh1 |
T |
A |
11: 67,112,178 (GRCm39) |
I1744N |
probably benign |
Het |
| Nadsyn1 |
C |
T |
7: 143,361,168 (GRCm39) |
G335S |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,246,723 (GRCm39) |
V382A |
possibly damaging |
Het |
| Ndufaf4 |
A |
T |
4: 24,898,636 (GRCm39) |
D64V |
probably damaging |
Het |
| Nfe2l2 |
T |
C |
2: 75,507,462 (GRCm39) |
T213A |
probably benign |
Het |
| Nkain4 |
A |
G |
2: 180,584,995 (GRCm39) |
L73P |
probably damaging |
Het |
| Nmt1 |
C |
T |
11: 102,949,041 (GRCm39) |
R299* |
probably null |
Het |
| Or1j20 |
T |
A |
2: 36,760,401 (GRCm39) |
D274E |
probably benign |
Het |
| Or2y8 |
A |
C |
11: 52,035,525 (GRCm39) |
Y277* |
probably null |
Het |
| Or4b12 |
T |
C |
2: 90,096,308 (GRCm39) |
I155M |
probably benign |
Het |
| Or5k1 |
G |
A |
16: 58,617,424 (GRCm39) |
P262S |
possibly damaging |
Het |
| Padi2 |
G |
T |
4: 140,676,542 (GRCm39) |
R560L |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,750 (GRCm39) |
N249S |
possibly damaging |
Het |
| Pde1c |
A |
C |
6: 56,103,842 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
T |
C |
5: 75,334,156 (GRCm39) |
S410P |
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,627,078 (GRCm39) |
M456V |
probably damaging |
Het |
| Pla2g2d |
T |
A |
4: 138,507,591 (GRCm39) |
C82S |
probably damaging |
Het |
| Rgs21 |
A |
G |
1: 144,412,680 (GRCm39) |
V48A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,639,836 (GRCm39) |
V506L |
probably damaging |
Het |
| Slc7a4 |
A |
G |
16: 17,393,815 (GRCm39) |
|
probably benign |
Het |
| Sptbn5 |
C |
G |
2: 119,916,048 (GRCm39) |
|
probably benign |
Het |
| Sstr2 |
T |
A |
11: 113,515,539 (GRCm39) |
W153R |
probably damaging |
Het |
| Steap2 |
C |
T |
5: 5,723,681 (GRCm39) |
V400I |
probably benign |
Het |
| Syne2 |
G |
A |
12: 75,997,733 (GRCm39) |
G2236D |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,607,342 (GRCm39) |
N151S |
possibly damaging |
Het |
| Tex52 |
T |
C |
6: 128,352,518 (GRCm39) |
S13P |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,256,253 (GRCm39) |
I456V |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,942,536 (GRCm39) |
F946S |
probably benign |
Het |
| Vmn2r10 |
A |
T |
5: 109,146,910 (GRCm39) |
Y459* |
probably null |
Het |
| Vwa1 |
A |
G |
4: 155,858,922 (GRCm39) |
L13P |
probably damaging |
Het |
| Zfp648 |
C |
A |
1: 154,079,963 (GRCm39) |
Q41K |
probably benign |
Het |
|
| Other mutations in Foxm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Foxm1
|
APN |
6 |
128,347,930 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01312:Foxm1
|
APN |
6 |
128,350,337 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01317:Foxm1
|
APN |
6 |
128,344,316 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01683:Foxm1
|
APN |
6 |
128,350,451 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01837:Foxm1
|
APN |
6 |
128,343,167 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02039:Foxm1
|
APN |
6 |
128,346,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02490:Foxm1
|
APN |
6 |
128,350,314 (GRCm39) |
nonsense |
probably null |
|
|
IGL02685:Foxm1
|
APN |
6 |
128,350,070 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03335:Foxm1
|
APN |
6 |
128,349,531 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0374:Foxm1
|
UTSW |
6 |
128,349,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0625:Foxm1
|
UTSW |
6 |
128,350,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1420:Foxm1
|
UTSW |
6 |
128,349,884 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1471:Foxm1
|
UTSW |
6 |
128,350,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Foxm1
|
UTSW |
6 |
128,352,465 (GRCm39) |
splice site |
probably null |
|
|
R4334:Foxm1
|
UTSW |
6 |
128,342,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4753:Foxm1
|
UTSW |
6 |
128,349,519 (GRCm39) |
missense |
probably null |
0.89 |
|
R4834:Foxm1
|
UTSW |
6 |
128,346,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Foxm1
|
UTSW |
6 |
128,342,731 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5657:Foxm1
|
UTSW |
6 |
128,350,351 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5763:Foxm1
|
UTSW |
6 |
128,343,071 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5982:Foxm1
|
UTSW |
6 |
128,347,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6164:Foxm1
|
UTSW |
6 |
128,350,898 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8169:Foxm1
|
UTSW |
6 |
128,348,671 (GRCm39) |
splice site |
probably null |
|
|
R8750:Foxm1
|
UTSW |
6 |
128,350,206 (GRCm39) |
nonsense |
probably null |
|
|
R8844:Foxm1
|
UTSW |
6 |
128,350,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9142:Foxm1
|
UTSW |
6 |
128,344,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGAATAGCCCCGCTTC -3'
(R):5'- AAGAACAGGTCAGGCTCATC -3'
Sequencing Primer
(F):5'- CGCTTCCTGCCACAGAAC -3'
(R):5'- TCAGGCTCATCCAGACAGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation