Incidental Mutation 'IGL02792:Zfpm2'
ID359782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfpm2
Ensembl Gene ENSMUSG00000022306
Gene Namezinc finger protein, multitype 2
SynonymsB330005D23Rik, FOG2, FOG-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02792
Quality Score
Status
Chromosome15
Chromosomal Location40655035-41104592 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 41103013 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 833 (Q833K)
Ref Sequence ENSEMBL: ENSMUSP00000155094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053467] [ENSMUST00000230319]
Predicted Effect probably benign
Transcript: ENSMUST00000053467
AA Change: Q965K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051335
Gene: ENSMUSG00000022306
AA Change: Q965K

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 benign
Transcript: ENSMUST00000230319
AA Change: Q833K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G A 17: 48,090,587 V131M probably benign Het
Abca6 A T 11: 110,188,681 C1216S probably damaging Het
Acly T C 11: 100,478,410 K1018E probably damaging Het
Acsl5 G A 19: 55,293,731 probably null Het
Adgrb1 C A 15: 74,547,622 L771I probably damaging Het
Adh7 A T 3: 138,223,737 K89I probably damaging Het
Adora2b A T 11: 62,265,483 I253F possibly damaging Het
Akna G A 4: 63,377,706 P975S possibly damaging Het
Alg9 T C 9: 50,842,748 L576P possibly damaging Het
Arhgap20 A G 9: 51,849,918 E1023G possibly damaging Het
Astn2 A T 4: 65,644,821 S908T probably benign Het
Atp1a4 C T 1: 172,227,299 probably null Het
Cabin1 T C 10: 75,746,739 Y281C probably damaging Het
Cdc42bpb G T 12: 111,299,561 F1312L probably benign Het
Cfap65 A C 1: 74,927,178 F330C probably damaging Het
Col27a1 C T 4: 63,315,583 P689S unknown Het
Col4a3 A T 1: 82,718,803 K1643N probably damaging Het
Dopey2 T A 16: 93,801,572 V1875D possibly damaging Het
Eftud2 A G 11: 102,870,256 probably benign Het
Ergic3 C A 2: 156,017,850 T357K probably damaging Het
Glra1 A T 11: 55,536,400 D36E probably damaging Het
Gpatch1 A G 7: 35,301,593 Y330H probably damaging Het
Hmcn2 T C 2: 31,346,590 S382P probably damaging Het
Kat6a G A 8: 22,938,300 E1224K probably damaging Het
Klk13 A G 7: 43,721,414 E29G possibly damaging Het
Klra9 T C 6: 130,188,680 D124G probably benign Het
Lrmda T C 14: 22,019,910 probably null Het
Ltbp1 G A 17: 75,282,994 V539M probably damaging Het
Ngfr A C 11: 95,571,861 L317R probably damaging Het
Nlrp6 C A 7: 140,922,435 H151Q probably damaging Het
Nnt A G 13: 119,357,646 L633P probably damaging Het
Nxpe3 C T 16: 55,866,172 V158M probably damaging Het
Olfr266 T C 3: 106,822,140 T140A probably damaging Het
Olfr716 T C 7: 107,148,218 F301L probably benign Het
Olfr828 C T 9: 18,815,958 S112N probably benign Het
Pla2g4f T C 2: 120,303,369 Y517C probably damaging Het
Poc1a A T 9: 106,295,194 I207F possibly damaging Het
Polr2a A G 11: 69,746,112 S338P probably damaging Het
Ptprz1 T C 6: 22,959,723 V73A probably damaging Het
Relb A T 7: 19,613,864 L281Q probably damaging Het
Rrp8 A T 7: 105,733,811 L382* probably null Het
Setd1a C T 7: 127,791,350 S523F unknown Het
Slamf8 A G 1: 172,588,130 I47T probably damaging Het
Slc16a4 G A 3: 107,298,877 A88T probably benign Het
Sox6 C T 7: 115,541,649 M532I probably benign Het
Tcp11l1 T A 2: 104,681,820 Y489F probably benign Het
Tdrd6 T G 17: 43,625,027 D1710A probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Vangl1 A T 3: 102,163,423 I399N probably damaging Het
Vmn1r201 T C 13: 22,474,844 L76P probably damaging Het
Vmn1r58 T C 7: 5,411,229 M1V probably null Het
Wdfy4 T C 14: 33,095,305 I1561V probably benign Het
Xkr9 A G 1: 13,700,803 D181G probably damaging Het
Zfp318 T C 17: 46,409,178 F1101L 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
IGL02123:Zfpm2 APN 15 41102195 missense probably damaging 1.00
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
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
R7976:Zfpm2 UTSW 15 41102612 missense probably damaging 1.00
Posted On2015-12-18