Incidental Mutation 'IGL02861:Zfpm2'
ID 362147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfpm2
Ensembl Gene ENSMUSG00000022306
Gene Name zinc finger protein, multitype 2
Synonyms FOG2, B330005D23Rik, FOG-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02861
Quality Score
Status
Chromosome 15
Chromosomal Location 40518438-40967988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 40966662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 917 (K917T)
Ref Sequence ENSEMBL: ENSMUSP00000155094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053467] [ENSMUST00000230319]
AlphaFold Q8CCH7
Predicted Effect possibly damaging
Transcript: ENSMUST00000053467
AA Change: K1049T

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000051335
Gene: ENSMUSG00000022306
AA Change: K1049T

DomainStartEndE-ValueType
low complexity region 19 35 N/A INTRINSIC
ZnF_C2H2 250 270 4.27e1 SMART
ZnF_C2H2 296 320 1.25e-1 SMART
ZnF_C2H2 335 357 4.05e-1 SMART
ZnF_C2H2 363 385 6.23e-2 SMART
ZnF_C2H2 548 569 1.43e1 SMART
ZnF_C2H2 687 714 1.06e2 SMART
low complexity region 731 741 N/A INTRINSIC
ZnF_C2H2 854 874 5.4e1 SMART
ZnF_C2H2 1119 1145 4.99e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000230319
AA Change: K917T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac defects, including absence of coronary vasculature, resulting in lethality between E12.5 and E15.5. Conditional mutations reveal errors in ovary and testis development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A T 13: 61,001,146 (GRCm39) probably benign Het
6430548M08Rik G A 8: 120,876,863 (GRCm39) R157H probably damaging Het
Amer3 A G 1: 34,627,206 (GRCm39) K482E probably damaging Het
Ankrd11 A T 8: 123,622,566 (GRCm39) S429T probably damaging Het
Ano3 T A 2: 110,569,157 (GRCm39) N125I probably damaging Het
BC106179 T A 16: 23,042,746 (GRCm39) probably benign Het
Bclaf3 T C X: 158,338,524 (GRCm39) I457T possibly damaging Het
Cbr3 T G 16: 93,482,007 (GRCm39) V121G probably damaging Het
Cd44 A G 2: 102,662,826 (GRCm39) probably null Het
Cd72 G A 4: 43,448,332 (GRCm39) A316V probably benign Het
Cdc27 A T 11: 104,413,657 (GRCm39) probably benign Het
Cdon A T 9: 35,398,253 (GRCm39) Q990L probably damaging Het
Clk2 T C 3: 89,080,706 (GRCm39) W231R probably damaging Het
Cpsf2 G A 12: 101,965,825 (GRCm39) V597I probably benign Het
D630003M21Rik A G 2: 158,042,918 (GRCm39) V874A probably benign Het
Daam2 A G 17: 49,776,455 (GRCm39) F811L probably damaging Het
Ddx54 T C 5: 120,756,195 (GRCm39) probably benign Het
Dysf T A 6: 84,016,519 (GRCm39) L59Q probably damaging Het
Eps8 A G 6: 137,476,597 (GRCm39) Y601H probably damaging Het
Faf2 T C 13: 54,796,235 (GRCm39) Y131H probably damaging Het
Hectd4 T A 5: 121,445,067 (GRCm39) D101E possibly damaging Het
Hk2 T C 6: 82,737,139 (GRCm39) T30A possibly damaging Het
Il27 A T 7: 126,191,821 (GRCm39) L77Q probably damaging Het
Klhdc1 T A 12: 69,298,225 (GRCm39) V83D possibly damaging Het
Manba T G 3: 135,276,024 (GRCm39) S822A probably benign Het
Mterf2 A C 10: 84,956,195 (GRCm39) V143G probably damaging Het
Ncapd3 A G 9: 26,981,195 (GRCm39) D895G probably benign Het
Or4c115 T A 2: 88,927,801 (GRCm39) I157L probably benign Het
Or6n1 T A 1: 173,916,602 (GRCm39) probably benign Het
Panx1 T C 9: 14,919,101 (GRCm39) K253E probably benign Het
Phc1 T A 6: 122,300,748 (GRCm39) probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A G 17: 42,688,208 (GRCm39) E250G probably damaging Het
Rp1 G T 1: 4,416,375 (GRCm39) S1579* probably null Het
Rrp1 A G 10: 78,245,056 (GRCm39) probably benign Het
Ryr3 A G 2: 112,483,186 (GRCm39) L4187P possibly damaging Het
Serpinc1 A T 1: 160,827,561 (GRCm39) I387F probably damaging Het
Slc2a7 G A 4: 150,252,836 (GRCm39) C492Y probably benign Het
Slf1 A G 13: 77,274,478 (GRCm39) probably benign Het
Spta1 T A 1: 174,039,164 (GRCm39) L1169Q probably damaging Het
Stap1 T A 5: 86,219,824 (GRCm39) probably benign Het
Taf6 A G 5: 138,182,147 (GRCm39) L66P probably damaging Het
Ttn T C 2: 76,632,841 (GRCm39) E14071G probably damaging Het
Unk A G 11: 115,947,125 (GRCm39) H586R possibly damaging Het
Other mutations in Zfpm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Zfpm2 APN 15 40,962,683 (GRCm39) missense probably damaging 1.00
IGL00815:Zfpm2 APN 15 40,962,887 (GRCm39) missense probably benign 0.37
IGL00821:Zfpm2 APN 15 40,966,783 (GRCm39) missense probably damaging 1.00
IGL01622:Zfpm2 APN 15 40,965,320 (GRCm39) missense probably benign 0.07
IGL01623:Zfpm2 APN 15 40,965,320 (GRCm39) missense probably benign 0.07
IGL01807:Zfpm2 APN 15 40,616,452 (GRCm39) critical splice donor site probably null
IGL01872:Zfpm2 APN 15 40,965,783 (GRCm39) missense probably benign
IGL02087:Zfpm2 APN 15 40,966,517 (GRCm39) missense probably damaging 0.97
IGL02123:Zfpm2 APN 15 40,965,591 (GRCm39) missense probably damaging 1.00
IGL02355:Zfpm2 APN 15 40,962,890 (GRCm39) missense probably damaging 1.00
IGL02362:Zfpm2 APN 15 40,962,890 (GRCm39) missense probably damaging 1.00
IGL02579:Zfpm2 APN 15 40,962,868 (GRCm39) missense possibly damaging 0.91
IGL02752:Zfpm2 APN 15 40,965,415 (GRCm39) missense probably benign 0.23
IGL02792:Zfpm2 APN 15 40,966,409 (GRCm39) missense probably benign 0.00
IGL03180:Zfpm2 APN 15 40,964,790 (GRCm39) missense probably damaging 1.00
IGL03344:Zfpm2 APN 15 40,966,170 (GRCm39) missense probably benign
R0305:Zfpm2 UTSW 15 40,637,431 (GRCm39) splice site probably benign
R0365:Zfpm2 UTSW 15 40,637,462 (GRCm39) missense possibly damaging 0.88
R1171:Zfpm2 UTSW 15 40,965,075 (GRCm39) missense probably damaging 1.00
R1456:Zfpm2 UTSW 15 40,965,877 (GRCm39) missense probably damaging 1.00
R1482:Zfpm2 UTSW 15 40,962,687 (GRCm39) missense probably damaging 1.00
R1580:Zfpm2 UTSW 15 40,966,605 (GRCm39) missense possibly damaging 0.84
R2119:Zfpm2 UTSW 15 40,966,419 (GRCm39) missense probably damaging 1.00
R2189:Zfpm2 UTSW 15 40,964,579 (GRCm39) missense possibly damaging 0.76
R2867:Zfpm2 UTSW 15 40,962,785 (GRCm39) missense probably benign 0.06
R2867:Zfpm2 UTSW 15 40,962,785 (GRCm39) missense probably benign 0.06
R2886:Zfpm2 UTSW 15 40,965,719 (GRCm39) missense probably benign 0.44
R3024:Zfpm2 UTSW 15 40,966,355 (GRCm39) missense probably benign 0.00
R4043:Zfpm2 UTSW 15 40,734,023 (GRCm39) missense possibly damaging 0.94
R4178:Zfpm2 UTSW 15 40,966,940 (GRCm39) missense probably damaging 1.00
R4465:Zfpm2 UTSW 15 40,959,557 (GRCm39) missense probably benign 0.00
R5263:Zfpm2 UTSW 15 40,962,791 (GRCm39) missense probably benign 0.45
R5266:Zfpm2 UTSW 15 40,962,865 (GRCm39) missense probably benign 0.01
R5352:Zfpm2 UTSW 15 40,733,938 (GRCm39) missense probably benign 0.01
R5584:Zfpm2 UTSW 15 40,965,933 (GRCm39) missense probably benign 0.45
R5661:Zfpm2 UTSW 15 40,959,467 (GRCm39) nonsense probably null
R6437:Zfpm2 UTSW 15 40,962,793 (GRCm39) missense probably benign
R6660:Zfpm2 UTSW 15 40,518,981 (GRCm39) critical splice donor site probably null
R6742:Zfpm2 UTSW 15 40,965,114 (GRCm39) missense probably benign
R6749:Zfpm2 UTSW 15 40,818,104 (GRCm39) missense possibly damaging 0.90
R7363:Zfpm2 UTSW 15 40,616,413 (GRCm39) missense probably damaging 1.00
R7401:Zfpm2 UTSW 15 40,966,386 (GRCm39) missense possibly damaging 0.87
R7657:Zfpm2 UTSW 15 40,966,671 (GRCm39) missense possibly damaging 0.78
R7690:Zfpm2 UTSW 15 40,818,162 (GRCm39) missense possibly damaging 0.45
R7698:Zfpm2 UTSW 15 40,959,487 (GRCm39) missense probably benign 0.03
R7893:Zfpm2 UTSW 15 40,966,008 (GRCm39) missense probably damaging 1.00
R8081:Zfpm2 UTSW 15 40,965,644 (GRCm39) missense probably damaging 1.00
R8223:Zfpm2 UTSW 15 40,616,355 (GRCm39) missense probably benign 0.34
R9028:Zfpm2 UTSW 15 40,966,758 (GRCm39) missense possibly damaging 0.87
R9065:Zfpm2 UTSW 15 40,962,712 (GRCm39) missense possibly damaging 0.95
R9234:Zfpm2 UTSW 15 40,966,470 (GRCm39) missense probably damaging 1.00
R9474:Zfpm2 UTSW 15 40,966,867 (GRCm39) missense probably damaging 1.00
R9694:Zfpm2 UTSW 15 40,965,710 (GRCm39) missense possibly damaging 0.88
Posted On 2015-12-18