Incidental Mutation 'R5763:Foxm1'
ID 446112
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 043364-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5763 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 128339957-128352849 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128343071 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 135 (I135N)
Ref Sequence ENSEMBL: ENSMUSP00000107776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057421] [ENSMUST00000073316] [ENSMUST00000112148] [ENSMUST00000112151] [ENSMUST00000112152] [ENSMUST00000203040] [ENSMUST00000203719] [ENSMUST00000155573]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000057421
SMART Domains Protein: ENSMUSP00000054573
Gene: ENSMUSG00000048668

DomainStartEndE-ValueType
Pfam:RHINO 1 233 1.1e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073316
AA Change: I135N

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000073041
Gene: ENSMUSG00000001517
AA Change: I135N

DomainStartEndE-ValueType
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: ENSMUST00000112148
AA Change: I135N

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107776
Gene: ENSMUSG00000001517
AA Change: I135N

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000112151
SMART Domains Protein: ENSMUSP00000107778
Gene: ENSMUSG00000048668

DomainStartEndE-ValueType
Pfam:RHINO 1 233 1.4e-107 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112152
SMART Domains Protein: ENSMUSP00000107779
Gene: ENSMUSG00000048668

DomainStartEndE-ValueType
Pfam:RHINO 1 233 1.4e-107 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125456
Predicted Effect probably benign
Transcript: ENSMUST00000203040
SMART Domains Protein: ENSMUSP00000145305
Gene: ENSMUSG00000001517

DomainStartEndE-ValueType
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: ENSMUST00000203258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136395
Predicted Effect probably benign
Transcript: ENSMUST00000203719
Predicted Effect probably benign
Transcript: ENSMUST00000155573
SMART Domains Protein: ENSMUSP00000114836
Gene: ENSMUSG00000048668

DomainStartEndE-ValueType
Pfam:RHINO 1 121 3.6e-49 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 97% (70/72)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A G 1: 130,670,768 (GRCm39) H330R possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Actl6b T A 5: 137,565,063 (GRCm39) L314Q possibly damaging Het
Adam22 A T 5: 8,184,544 (GRCm39) C483S probably damaging Het
Adamts7 T A 9: 90,070,462 (GRCm39) L601H probably damaging Het
Agl A T 3: 116,547,009 (GRCm39) D1280E probably damaging Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Astn2 T A 4: 65,647,568 (GRCm39) M757L probably benign Het
Atr A G 9: 95,827,176 (GRCm39) M2407V probably benign Het
Brca2 T C 5: 150,471,471 (GRCm39) F2283L possibly damaging Het
Brwd1 A T 16: 95,835,043 (GRCm39) Y940* probably null Het
Camk2g A T 14: 20,789,415 (GRCm39) N218K probably damaging Het
Ces2a C T 8: 105,462,756 (GRCm39) P115L probably benign Het
Col11a1 T C 3: 113,888,245 (GRCm39) probably benign Het
Col1a2 T A 6: 4,515,682 (GRCm39) D150E unknown Het
Crybg3 A G 16: 59,374,973 (GRCm39) S2094P possibly damaging Het
Cttnbp2 T C 6: 18,414,298 (GRCm39) N916D probably benign Het
Ddx24 A G 12: 103,383,673 (GRCm39) F593L probably damaging Het
Dhx16 G A 17: 36,192,580 (GRCm39) E171K possibly damaging Het
Dnah5 T C 15: 28,311,298 (GRCm39) I1759T probably damaging Het
Dnah9 C A 11: 65,846,065 (GRCm39) S2991I probably damaging Het
Entpd7 G T 19: 43,692,705 (GRCm39) V87L probably damaging Het
Fam221a T G 6: 49,355,518 (GRCm39) L207V probably damaging Het
Gabpa C A 16: 84,657,297 (GRCm39) Q391K possibly damaging Het
Gipr T A 7: 18,897,475 (GRCm39) H111L probably damaging Het
Gmip A G 8: 70,270,501 (GRCm39) D737G probably damaging Het
Herc6 T A 6: 57,639,872 (GRCm39) N995K probably damaging Het
Ldha G A 7: 46,497,213 (GRCm39) probably benign Het
Lrrc37 G A 11: 103,504,469 (GRCm39) P324S probably damaging Het
Masp1 T C 16: 23,314,997 (GRCm39) E88G probably damaging Het
Mical2 G A 7: 111,973,861 (GRCm39) probably null Het
Mill1 T A 7: 17,979,587 (GRCm39) V18E probably benign Het
Mrgpra3 A T 7: 47,239,355 (GRCm39) C190* probably null Het
Nog C T 11: 89,192,291 (GRCm39) V186M probably damaging Het
Nrxn2 T C 19: 6,581,369 (GRCm39) F392L probably benign Het
Or11h7 T C 14: 50,891,525 (GRCm39) I277T possibly damaging Het
Or12j3 T A 7: 139,953,568 (GRCm39) probably null Het
Or1e33 T A 11: 73,738,693 (GRCm39) Q86L probably benign Het
Or4a79 T A 2: 89,552,372 (GRCm39) M28L probably benign Het
Or7c74 T C 2: 37,161,025 (GRCm39) noncoding transcript Het
Phyhd1 T A 2: 30,169,983 (GRCm39) D158E probably damaging Het
Pik3r4 G T 9: 105,546,974 (GRCm39) K917N probably benign Het
Pnma1 A G 12: 84,194,124 (GRCm39) V193A possibly damaging Het
Podxl2 T C 6: 88,826,805 (GRCm39) E167G probably damaging Het
Prss50 A T 9: 110,691,517 (GRCm39) K82* probably null Het
Qsox1 A G 1: 155,655,625 (GRCm39) S513P probably benign Het
Rheb A G 5: 25,012,785 (GRCm39) V98A probably benign Het
Rhoj A G 12: 75,438,606 (GRCm39) I131V probably benign Het
Rsph4a A T 10: 33,781,684 (GRCm39) D178V probably damaging Het
Setd2 T G 9: 110,385,343 (GRCm39) probably null Het
Siglecf A T 7: 43,005,744 (GRCm39) K434* probably null Het
Slc14a1 T C 18: 78,159,629 (GRCm39) Y88C probably benign Het
Snx15 T C 19: 6,172,140 (GRCm39) E89G probably damaging Het
Son C T 16: 91,454,378 (GRCm39) R1042C probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Suz12 C A 11: 79,916,134 (GRCm39) Y457* probably null Het
Tet1 T A 10: 62,675,847 (GRCm39) N743I probably damaging Het
Tmc6 A G 11: 117,660,259 (GRCm39) F660L possibly damaging Het
Tnpo1 A C 13: 98,996,445 (GRCm39) I452S possibly damaging Het
Trav4-3 G T 14: 53,836,844 (GRCm39) G103V probably damaging Het
Ubap2 T C 4: 41,195,809 (GRCm39) K994E probably damaging Het
Vmn2r14 T C 5: 109,363,724 (GRCm39) T731A possibly damaging Het
Vmn2r52 T A 7: 9,905,231 (GRCm39) I203L probably benign Het
Zfp663 G T 2: 165,200,355 (GRCm39) S75* probably null Het
Zik1 G T 7: 10,226,293 (GRCm39) H25N probably benign Het
Other mutations in Foxm1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5666:Foxm1 UTSW 6 128,350,130 (GRCm39) missense possibly damaging 0.69
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'- AGCTCTTGCAAATTTCCAGCC -3'
(R):5'- AGCATGACTGACTGAAGACC -3'

Sequencing Primer
(F):5'- TCCAGCCGGAATCAAGATTATC -3'
(R):5'- GACTGACTGAAGACCTTTCCAGTG -3'
Posted On 2016-11-21