Incidental Mutation 'R2119:Zfpm2'
ID 231320
Institutional Source Beutler Lab
Gene Symbol Zfpm2
Ensembl Gene ENSMUSG00000022306
Gene Name zinc finger protein, multitype 2
Synonyms FOG2, B330005D23Rik, FOG-2
MMRRC Submission 040123-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2119 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 40518438-40967988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40966419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 836 (Y836C)
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: Y968C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051335
Gene: ENSMUSG00000022306
AA Change: Y968C

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: Y836C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 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 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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Actbl2 G A 13: 111,391,694 (GRCm39) V10I probably benign Het
Adamts12 C T 15: 11,310,665 (GRCm39) T974I probably damaging Het
Aifm2 G A 10: 61,571,383 (GRCm39) V306M possibly damaging Het
Arhgef38 T C 3: 132,866,514 (GRCm39) K208E probably benign Het
Atxn7l3 C A 11: 102,182,807 (GRCm39) R278L possibly damaging Het
Bcl9 A G 3: 97,116,231 (GRCm39) L821P probably benign Het
Cdh19 C T 1: 110,847,320 (GRCm39) V430I probably benign Het
Clns1a T A 7: 97,363,111 (GRCm39) probably null Het
Col3a1 T A 1: 45,385,281 (GRCm39) C133S probably damaging Het
Csmd1 G A 8: 17,266,749 (GRCm39) T59I probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Cyp2j8 A T 4: 96,395,438 (GRCm39) D62E probably benign Het
Dcbld1 A T 10: 52,196,075 (GRCm39) M428L probably benign Het
Dhx32 A T 7: 133,323,976 (GRCm39) Y523* probably null Het
Dlgap2 C T 8: 14,828,206 (GRCm39) A538V possibly damaging Het
Dlgap3 T C 4: 127,129,982 (GRCm39) S919P probably benign Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dsc1 A T 18: 20,243,209 (GRCm39) H81Q probably benign Het
Dusp8 A T 7: 141,636,298 (GRCm39) S431T possibly damaging Het
Dync1i1 A T 6: 5,767,096 (GRCm39) T59S probably damaging Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Eef1d G T 15: 75,775,062 (GRCm39) A199E probably benign Het
Eml3 T A 19: 8,911,718 (GRCm39) probably null Het
Enah G T 1: 181,749,318 (GRCm39) A138E probably damaging Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Gba1 A T 3: 89,112,868 (GRCm39) E170V probably benign Het
Hdac1 C T 4: 129,416,157 (GRCm39) R212Q probably benign Het
Heatr1 T A 13: 12,447,527 (GRCm39) L1740Q probably null Het
Inhbb T A 1: 119,348,431 (GRCm39) H129L probably benign Het
Inpp5b T A 4: 124,691,662 (GRCm39) H862Q probably benign Het
Itsn2 C A 12: 4,757,025 (GRCm39) R1372S probably benign Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Klk1b21 A T 7: 43,755,193 (GRCm39) T163S probably benign Het
Lmo3 A T 6: 138,393,492 (GRCm39) C43S probably damaging Het
Metrn C T 17: 26,014,197 (GRCm39) V210I probably benign Het
Ndufaf7 A T 17: 79,252,442 (GRCm39) I284F possibly damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Or10a5 A G 7: 106,635,938 (GRCm39) D192G probably damaging Het
Osbpl7 T C 11: 96,946,905 (GRCm39) S403P probably benign Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Pum1 C A 4: 130,396,581 (GRCm39) T112K possibly damaging Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Reln T A 5: 22,223,998 (GRCm39) E917V probably damaging Het
Rfc4 A T 16: 22,943,314 (GRCm39) V61E probably damaging Het
Rnf112 C T 11: 61,341,854 (GRCm39) V317I possibly damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Rtn4ip1 A G 10: 43,811,993 (GRCm39) probably null Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Serhl A G 15: 82,999,776 (GRCm39) Q252R probably benign Het
Sestd1 T C 2: 77,042,867 (GRCm39) D229G probably benign Het
Slc35g1 T C 19: 38,391,735 (GRCm39) V339A probably benign Het
Slc9b2 T A 3: 135,034,743 (GRCm39) probably null Het
Stk40 C T 4: 126,022,640 (GRCm39) T138I probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tep1 T G 14: 51,076,443 (GRCm39) K1664Q probably benign Het
Tmod2 T C 9: 75,493,377 (GRCm39) K193E possibly damaging Het
Trak1 T A 9: 121,302,063 (GRCm39) *940R probably null Het
Ttc5 A T 14: 51,012,822 (GRCm39) Y189N probably damaging Het
Ugt2a3 A T 5: 87,484,430 (GRCm39) M198K probably damaging Het
Uox A G 3: 146,318,297 (GRCm39) H66R probably benign Het
Usp9y A T Y: 1,303,451 (GRCm39) D2487E probably benign Het
Vnn3 G A 10: 23,740,311 (GRCm39) G205R probably damaging Het
Vps11 T C 9: 44,260,294 (GRCm39) D856G probably benign Het
Zdhhc17 T C 10: 110,817,909 (GRCm39) N90D possibly damaging Het
Zfp105 T A 9: 122,758,743 (GRCm39) L138* probably null Het
Zfp28 A G 7: 6,397,875 (GRCm39) Y770C probably benign Het
Zfp655 T A 5: 145,181,594 (GRCm39) L484Q probably damaging Het
Zfp868 C A 8: 70,064,646 (GRCm39) E230* probably null 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
IGL02861:Zfpm2 APN 15 40,966,662 (GRCm39) missense probably damaging 0.98
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
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
Predicted Primers PCR Primer
(F):5'- TCCGAATCCAGAAAGTGAACG -3'
(R):5'- TCTTTCTTGGGTACGGCACAC -3'

Sequencing Primer
(F):5'- CCCTGAAGTCAGCTTTGAAAG -3'
(R):5'- TACGGCACACCCATTTGAGGAG -3'
Posted On 2014-09-18