Incidental Mutation 'IGL02123:Zfpm2'
ID 280728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfpm2
Ensembl Gene ENSMUSG00000022306
Gene Name zinc finger protein, multitype 2
Synonyms B330005D23Rik, FOG2, FOG-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02123
Quality Score
Status
Chromosome 15
Chromosomal Location 40655035-41104592 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41102195 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 560 (C560Y)
Ref Sequence ENSEMBL: ENSMUSP00000155094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053467] [ENSMUST00000230319]
AlphaFold Q8CCH7
Predicted Effect probably damaging
Transcript: ENSMUST00000053467
AA Change: C692Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051335
Gene: ENSMUSG00000022306
AA Change: C692Y

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: C560Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T C 7: 28,629,489 T31A probably benign Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ampd3 T C 7: 110,802,559 V429A possibly damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cldn11 C T 3: 31,150,187 T13M probably benign Het
Cngb3 C A 4: 19,367,801 Q237K probably damaging Het
Col12a1 A G 9: 79,662,458 probably null Het
Copa T A 1: 172,112,128 L621H probably damaging Het
Dbn1 T C 13: 55,476,740 D332G possibly damaging Het
Drc1 T C 5: 30,347,104 S197P probably benign Het
E2f2 A G 4: 136,172,848 N23S probably benign Het
Epb41l2 T A 10: 25,460,844 L246H probably damaging Het
Fam13b G A 18: 34,445,618 probably benign Het
Fam184b A G 5: 45,639,151 M30T possibly damaging Het
Fam71d T C 12: 78,734,207 probably null Het
Fn3krp G A 11: 121,429,444 R205H probably benign Het
Fndc11 A G 2: 181,221,650 I83V probably benign Het
Gm3460 C T 14: 6,619,542 R150H probably benign Het
Hs6st1 T A 1: 36,103,871 F296I possibly damaging Het
Igsf10 T A 3: 59,318,660 I2531F probably damaging Het
Klhl40 T C 9: 121,779,923 F385L probably benign Het
Krt83 A T 15: 101,487,585 M302K possibly damaging Het
Lrrc43 A T 5: 123,494,279 I162F probably damaging Het
Map3k21 A G 8: 125,926,110 E325G probably damaging Het
Mpo A T 11: 87,794,795 N33I probably benign Het
Mpp4 A G 1: 59,161,466 probably null Het
Muc5b C T 7: 141,863,757 T3480I possibly damaging Het
Myo6 T C 9: 80,264,272 probably benign Het
Nostrin C T 2: 69,156,109 probably benign Het
Nphp1 T C 2: 127,754,049 M498V probably benign Het
Nr4a2 A T 2: 57,111,655 L199Q possibly damaging Het
Pcdhb6 A T 18: 37,335,820 N598I probably damaging Het
Pex19 T A 1: 172,134,286 M207K probably damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Plekha2 T C 8: 25,042,729 K409E probably damaging Het
Plxna2 T C 1: 194,794,383 L1169P probably damaging Het
Pmpcb A G 5: 21,743,375 probably benign Het
Ptrh1 T C 2: 32,776,814 probably benign Het
Rc3h2 T C 2: 37,398,253 E439G probably damaging Het
Ric1 C T 19: 29,594,800 A665V probably benign Het
Stx18 T A 5: 38,128,103 V219D probably damaging Het
Taf7 A T 18: 37,642,480 probably benign Het
Tbc1d8 A G 1: 39,380,236 S766P probably damaging Het
Tbc1d8 A G 1: 39,376,907 I895T possibly damaging Het
Tekt3 C A 11: 63,083,940 H362N probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tmem94 T C 11: 115,787,538 S196P possibly damaging Het
Vmn2r14 T C 5: 109,220,067 Y353C probably damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vmn2r90 T G 17: 17,733,482 M636R probably benign Het
Vmn2r98 T A 17: 19,080,679 C648S probably damaging Het
Other mutations in Zfpm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Zfpm2 APN 15 41099287 missense probably damaging 1.00
IGL00815:Zfpm2 APN 15 41099491 missense probably benign 0.37
IGL00821:Zfpm2 APN 15 41103387 missense probably damaging 1.00
IGL01622:Zfpm2 APN 15 41101924 missense probably benign 0.07
IGL01623:Zfpm2 APN 15 41101924 missense probably benign 0.07
IGL01807:Zfpm2 APN 15 40753056 critical splice donor site probably null
IGL01872:Zfpm2 APN 15 41102387 missense probably benign
IGL02087:Zfpm2 APN 15 41103121 missense probably damaging 0.97
IGL02355:Zfpm2 APN 15 41099494 missense probably damaging 1.00
IGL02362:Zfpm2 APN 15 41099494 missense probably damaging 1.00
IGL02579:Zfpm2 APN 15 41099472 missense possibly damaging 0.91
IGL02752:Zfpm2 APN 15 41102019 missense probably benign 0.23
IGL02792:Zfpm2 APN 15 41103013 missense probably benign 0.00
IGL02861:Zfpm2 APN 15 41103266 missense probably damaging 0.98
IGL03180:Zfpm2 APN 15 41101394 missense probably damaging 1.00
IGL03344:Zfpm2 APN 15 41102774 missense probably benign
R0305:Zfpm2 UTSW 15 40774035 splice site probably benign
R0365:Zfpm2 UTSW 15 40774066 missense possibly damaging 0.88
R1171:Zfpm2 UTSW 15 41101679 missense probably damaging 1.00
R1456:Zfpm2 UTSW 15 41102481 missense probably damaging 1.00
R1482:Zfpm2 UTSW 15 41099291 missense probably damaging 1.00
R1580:Zfpm2 UTSW 15 41103209 missense possibly damaging 0.84
R2119:Zfpm2 UTSW 15 41103023 missense probably damaging 1.00
R2189:Zfpm2 UTSW 15 41101183 missense possibly damaging 0.76
R2867:Zfpm2 UTSW 15 41099389 missense probably benign 0.06
R2867:Zfpm2 UTSW 15 41099389 missense probably benign 0.06
R2886:Zfpm2 UTSW 15 41102323 missense probably benign 0.44
R3024:Zfpm2 UTSW 15 41102959 missense probably benign 0.00
R4043:Zfpm2 UTSW 15 40870627 missense possibly damaging 0.94
R4178:Zfpm2 UTSW 15 41103544 missense probably damaging 1.00
R4465:Zfpm2 UTSW 15 41096161 missense probably benign 0.00
R5263:Zfpm2 UTSW 15 41099395 missense probably benign 0.45
R5266:Zfpm2 UTSW 15 41099469 missense probably benign 0.01
R5352:Zfpm2 UTSW 15 40870542 missense probably benign 0.01
R5584:Zfpm2 UTSW 15 41102537 missense probably benign 0.45
R5661:Zfpm2 UTSW 15 41096071 nonsense probably null
R6437:Zfpm2 UTSW 15 41099397 missense probably benign
R6660:Zfpm2 UTSW 15 40655585 critical splice donor site probably null
R6742:Zfpm2 UTSW 15 41101718 missense probably benign
R6749:Zfpm2 UTSW 15 40954708 missense possibly damaging 0.90
R7363:Zfpm2 UTSW 15 40753017 missense probably damaging 1.00
R7401:Zfpm2 UTSW 15 41102990 missense possibly damaging 0.87
R7657:Zfpm2 UTSW 15 41103275 missense possibly damaging 0.78
R7690:Zfpm2 UTSW 15 40954766 missense possibly damaging 0.45
R7698:Zfpm2 UTSW 15 41096091 missense probably benign 0.03
R7893:Zfpm2 UTSW 15 41102612 missense probably damaging 1.00
R8081:Zfpm2 UTSW 15 41102248 missense probably damaging 1.00
R8223:Zfpm2 UTSW 15 40752959 missense probably benign 0.34
R9028:Zfpm2 UTSW 15 41103362 missense possibly damaging 0.87
R9065:Zfpm2 UTSW 15 41099316 missense possibly damaging 0.95
R9234:Zfpm2 UTSW 15 41103074 missense probably damaging 1.00
R9474:Zfpm2 UTSW 15 41103471 missense probably damaging 1.00
R9694:Zfpm2 UTSW 15 41102314 missense possibly damaging 0.88
Posted On 2015-04-16