Incidental Mutation 'R0883:Zfpm1'
ID 80837
Institutional Source Beutler Lab
Gene Symbol Zfpm1
Ensembl Gene ENSMUSG00000049577
Gene Name zinc finger protein, multitype 1
Synonyms Fog1, Friend of GATA-1
MMRRC Submission 039050-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.797) question?
Stock # R0883 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 123008880-123063990 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123062585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 548 (T548M)
Ref Sequence ENSEMBL: ENSMUSP00000058037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054052] [ENSMUST00000127664]
AlphaFold O35615
PDB Structure Solution structure of the third zinc finger domain of FOG-1 [SOLUTION NMR]
Solution structure of the PR domain of FOG-1 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000054052
AA Change: T548M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000058037
Gene: ENSMUSG00000049577
AA Change: T548M

DomainStartEndE-ValueType
low complexity region 32 72 N/A INTRINSIC
low complexity region 86 94 N/A INTRINSIC
ZnF_C2H2 255 275 3.13e1 SMART
ZnF_C2H2 303 327 1.69e-3 SMART
ZnF_C2H2 333 355 1.53e-1 SMART
ZnF_C2H2 361 384 9.46e0 SMART
low complexity region 508 525 N/A INTRINSIC
low complexity region 570 578 N/A INTRINSIC
ZnF_C2H2 590 610 1.41e2 SMART
low complexity region 626 643 N/A INTRINSIC
low complexity region 644 663 N/A INTRINSIC
ZnF_C2H2 696 723 1.78e2 SMART
low complexity region 725 755 N/A INTRINSIC
low complexity region 761 779 N/A INTRINSIC
low complexity region 785 806 N/A INTRINSIC
low complexity region 823 834 N/A INTRINSIC
ZnF_C2H2 836 856 7.77e1 SMART
ZnF_C2H2 868 891 1.96e1 SMART
low complexity region 948 961 N/A INTRINSIC
ZnF_C2H2 963 989 4.99e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176690
SMART Domains Protein: ENSMUSP00000135092
Gene: ENSMUSG00000049577

DomainStartEndE-ValueType
ZnF_C2H2 51 71 3.13e1 SMART
ZnF_C2H2 99 123 1.69e-3 SMART
ZnF_C2H2 129 151 1.53e-1 SMART
ZnF_C2H2 157 180 9.46e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210581
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212315
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 98% (148/151)
MGI Phenotype PHENOTYPE: Homozygous mutants have poorly vascularized yolk sacs and small, pale livers. Mutants die between embryonic days 10.5 and 12.5 with severe anemia associated with a block in megakaryocyte development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 150 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,632 (GRCm39) L1607P probably damaging Het
1700016H13Rik T C 5: 103,796,687 (GRCm39) *118W probably null Het
4930595M18Rik G T X: 80,464,537 (GRCm39) T390N possibly damaging Het
Abca13 C T 11: 9,241,238 (GRCm39) Q1034* probably null Het
Acsbg3 A T 17: 57,190,835 (GRCm39) N468Y probably benign Het
Adgra3 T C 5: 50,118,065 (GRCm39) H1161R probably damaging Het
Aff1 T C 5: 103,974,004 (GRCm39) probably benign Het
Agap2 A G 10: 126,927,571 (GRCm39) T1131A possibly damaging Het
Ankrd12 A G 17: 66,292,127 (GRCm39) V1102A probably benign Het
Ankrd54 A T 15: 78,946,931 (GRCm39) C23S probably damaging Het
Anxa10 C T 8: 62,531,001 (GRCm39) V70I probably benign Het
Asap3 T C 4: 135,961,636 (GRCm39) probably benign Het
Asb13 T C 13: 3,695,052 (GRCm39) probably null Het
Atp6v1a A T 16: 43,922,055 (GRCm39) probably benign Het
Atp8b1 T G 18: 64,697,612 (GRCm39) I411L probably benign Het
Baiap3 T A 17: 25,468,075 (GRCm39) N313I probably damaging Het
Bok T C 1: 93,614,209 (GRCm39) I14T probably benign Het
Bri3bp T A 5: 125,518,808 (GRCm39) probably null Het
C2cd2l A G 9: 44,227,499 (GRCm39) L186P probably damaging Het
Cadm2 A T 16: 66,679,702 (GRCm39) C44S probably damaging Het
Capn11 T C 17: 45,949,807 (GRCm39) probably benign Het
Carm1 T A 9: 21,480,887 (GRCm39) probably benign Het
Ccdc27 T C 4: 154,120,941 (GRCm39) E285G unknown Het
Cct3 T A 3: 88,220,864 (GRCm39) D298E probably damaging Het
Cd59b T A 2: 103,911,331 (GRCm39) probably benign Het
Cdh2 T C 18: 16,762,633 (GRCm39) N437S probably benign Het
Celsr3 T A 9: 108,719,832 (GRCm39) I2470N probably damaging Het
Cfap100 G A 6: 90,392,888 (GRCm39) probably benign Het
Cfap119 T C 7: 127,184,034 (GRCm39) E261G probably damaging Het
Cfap45 A T 1: 172,359,756 (GRCm39) R98S possibly damaging Het
Cfap54 T A 10: 92,706,531 (GRCm39) H2757L unknown Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Cntn4 A T 6: 106,644,501 (GRCm39) probably benign Het
Cstf2t A T 19: 31,062,026 (GRCm39) M521L probably benign Het
Daam2 A T 17: 49,805,911 (GRCm39) probably benign Het
Ddias A T 7: 92,508,545 (GRCm39) W457R probably benign Het
Ddr2 C T 1: 169,822,198 (GRCm39) V417I probably benign Het
Dhx57 T C 17: 80,577,800 (GRCm39) T570A probably damaging Het
Dmp1 A G 5: 104,355,496 (GRCm39) E32G possibly damaging Het
Dtymk C T 1: 93,729,510 (GRCm39) V14M possibly damaging Het
Dync2li1 G A 17: 84,956,699 (GRCm39) M286I probably benign Het
Eea1 G A 10: 95,857,529 (GRCm39) D664N possibly damaging Het
Esp6 G T 17: 40,876,287 (GRCm39) V112L probably benign Het
Fam83h G T 15: 75,878,018 (GRCm39) Q127K probably damaging Het
Gabbr2 G A 4: 46,677,474 (GRCm39) T802I probably benign Het
Gart C A 16: 91,420,291 (GRCm39) D851Y possibly damaging Het
Gemin6 T A 17: 80,535,524 (GRCm39) H161Q probably damaging Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Gm5941 G A X: 91,533,817 (GRCm39) A62T possibly damaging Het
Gng2 G T 14: 19,941,363 (GRCm39) D26E probably benign Het
Gpr33 A G 12: 52,070,418 (GRCm39) V207A probably benign Het
Gstm3 T A 3: 107,873,586 (GRCm39) probably benign Het
Havcr1 T C 11: 46,643,259 (GRCm39) C60R probably damaging Het
Hspg2 T C 4: 137,268,751 (GRCm39) S2157P probably benign Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Igsf8 C A 1: 172,143,826 (GRCm39) A56D possibly damaging Het
Kat6a G T 8: 23,352,230 (GRCm39) A5S probably damaging Het
Kctd16 A G 18: 40,663,828 (GRCm39) E319G probably damaging Het
Kmo T C 1: 175,474,706 (GRCm39) V157A possibly damaging Het
Lrp5 T A 19: 3,655,308 (GRCm39) I1071F probably damaging Het
Lrrc17 A G 5: 21,766,276 (GRCm39) T253A probably benign Het
Mast2 T A 4: 116,168,964 (GRCm39) H769L probably damaging Het
Mast4 T C 13: 102,990,408 (GRCm39) K50E probably damaging Het
Mbd5 A G 2: 49,146,701 (GRCm39) T304A possibly damaging Het
Mbp T C 18: 82,590,995 (GRCm39) S73P probably damaging Het
Mc5r T A 18: 68,472,163 (GRCm39) V174E probably damaging Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Med13l T C 5: 118,809,067 (GRCm39) probably benign Het
Minar1 T C 9: 89,484,470 (GRCm39) H309R probably benign Het
Mlh3 C G 12: 85,282,488 (GRCm39) A1382P possibly damaging Het
Mpdz T C 4: 81,278,228 (GRCm39) probably benign Het
Muc5ac A G 7: 141,350,002 (GRCm39) T582A possibly damaging Het
Nalcn A G 14: 123,702,152 (GRCm39) F453S probably damaging Het
Nrap T A 19: 56,333,906 (GRCm39) M902L probably damaging Het
Nup85 C T 11: 115,459,196 (GRCm39) R100* probably null Het
Nxf1 T G 19: 8,741,955 (GRCm39) N296K probably damaging Het
Ogg1 A G 6: 113,305,381 (GRCm39) T65A probably damaging Het
Ogt A G X: 100,687,805 (GRCm39) probably benign Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Or51e1 T A 7: 102,359,202 (GRCm39) H245Q probably damaging Het
Or56b1b T A 7: 108,164,483 (GRCm39) N173I probably benign Het
Ovol2 T C 2: 144,173,710 (GRCm39) D24G probably damaging Het
Pabpc1 A G 15: 36,599,298 (GRCm39) probably benign Het
Pak6 T C 2: 118,524,168 (GRCm39) L441P probably damaging Het
Pappa T A 4: 65,107,552 (GRCm39) C654* probably null Het
Paqr6 T A 3: 88,273,298 (GRCm39) S97T probably damaging Het
Parp14 T C 16: 35,678,888 (GRCm39) N360S probably benign Het
Pclo G T 5: 14,727,873 (GRCm39) G2244* probably null Het
Pdzrn3 A T 6: 101,132,903 (GRCm39) probably null Het
Pes1 T C 11: 3,925,557 (GRCm39) M220T probably damaging Het
Phip A T 9: 82,758,274 (GRCm39) V1473E probably benign Het
Pkd2l2 T A 18: 34,563,321 (GRCm39) probably null Het
Plch1 T C 3: 63,660,677 (GRCm39) D302G probably damaging Het
Plekhh2 A G 17: 84,925,459 (GRCm39) T1419A probably benign Het
Ppara A T 15: 85,682,372 (GRCm39) E356V probably damaging Het
Ppp1r37 G A 7: 19,266,102 (GRCm39) P555S probably benign Het
Ppp6r1 T C 7: 4,642,709 (GRCm39) E545G possibly damaging Het
Proser3 G A 7: 30,240,124 (GRCm39) H327Y probably damaging Het
Prss43 T A 9: 110,658,576 (GRCm39) I292N probably damaging Het
Pwwp3b T A X: 138,136,444 (GRCm39) D327E probably damaging Het
Pygl G C 12: 70,253,178 (GRCm39) N271K probably damaging Het
Rassf7 T A 7: 140,796,903 (GRCm39) probably benign Het
Rfx2 T C 17: 57,110,722 (GRCm39) Y88C probably damaging Het
Rpl6 T C 5: 121,346,541 (GRCm39) V214A probably benign Het
Rspo1 T A 4: 124,885,225 (GRCm39) probably null Het
Sav1 A C 12: 70,012,979 (GRCm39) L366V probably benign Het
Sema3b T G 9: 107,481,355 (GRCm39) T52P possibly damaging Het
Senp6 A G 9: 80,023,841 (GRCm39) D40G probably damaging Het
Sh3pxd2a A G 19: 47,256,646 (GRCm39) S719P probably damaging Het
Shank1 C T 7: 44,001,718 (GRCm39) R1146W unknown Het
Slc34a3 G T 2: 25,121,245 (GRCm39) D307E probably benign Het
Slc35b3 T C 13: 39,121,251 (GRCm39) I330V probably benign Het
Slc4a10 G A 2: 62,073,742 (GRCm39) C268Y probably benign Het
Slco6d1 A G 1: 98,349,124 (GRCm39) E65G probably benign Het
Slit2 A G 5: 48,402,915 (GRCm39) probably benign Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Snap47 A G 11: 59,329,326 (GRCm39) probably benign Het
Snrnp25 G A 11: 32,156,960 (GRCm39) V15I probably damaging Het
Spns2 T C 11: 72,345,223 (GRCm39) Y449C probably damaging Het
Stab2 T A 10: 86,760,314 (GRCm39) probably benign Het
Strip1 C A 3: 107,521,929 (GRCm39) D750Y probably damaging Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Tbc1d2 T A 4: 46,609,003 (GRCm39) K745* probably null Het
Tctn1 T C 5: 122,402,207 (GRCm39) T76A probably damaging Het
Tesl1 A T X: 23,773,290 (GRCm39) I264F probably benign Het
Tfpi T C 2: 84,273,664 (GRCm39) probably benign Het
Timm44 A T 8: 4,316,592 (GRCm39) H317Q probably benign Het
Tnfaip1 A T 11: 78,420,840 (GRCm39) probably benign Het
Tnpo3 A T 6: 29,554,992 (GRCm39) probably benign Het
Top3b T C 16: 16,697,301 (GRCm39) probably benign Het
Trak1 T A 9: 121,282,351 (GRCm39) M410K possibly damaging Het
Trpm3 C A 19: 22,956,018 (GRCm39) P1160Q probably damaging Het
Tyk2 T A 9: 21,022,433 (GRCm39) T799S possibly damaging Het
Ubfd1 G A 7: 121,666,714 (GRCm39) probably benign Het
Unc13a G A 8: 72,094,817 (GRCm39) R1272* probably null Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Urb2 C T 8: 124,757,709 (GRCm39) Q1139* probably null Het
Vmn2r66 A T 7: 84,657,070 (GRCm39) S112T probably benign Het
Vmn2r71 A T 7: 85,272,842 (GRCm39) D552V probably benign Het
Vmn2r76 A G 7: 85,877,904 (GRCm39) Y498H probably benign Het
Vmn2r84 A C 10: 130,226,984 (GRCm39) W285G probably damaging Het
Vps72 G T 3: 95,029,894 (GRCm39) L304F probably damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Yaf2 T C 15: 93,183,417 (GRCm39) K131R probably damaging Het
Zfp141 A T 7: 42,125,480 (GRCm39) Y331N possibly damaging Het
Zfp324 G T 7: 12,704,951 (GRCm39) C380F probably damaging Het
Zfp521 T C 18: 13,978,119 (GRCm39) T765A probably benign Het
Zfp616 A T 11: 73,976,500 (GRCm39) H923L probably damaging Het
Zp2 A T 7: 119,742,799 (GRCm39) probably benign Het
Other mutations in Zfpm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02540:Zfpm1 APN 8 123,058,859 (GRCm39) missense possibly damaging 0.65
R0006:Zfpm1 UTSW 8 123,061,227 (GRCm39) missense probably damaging 1.00
R0508:Zfpm1 UTSW 8 123,061,872 (GRCm39) missense probably damaging 1.00
R0631:Zfpm1 UTSW 8 123,063,613 (GRCm39) intron probably benign
R0729:Zfpm1 UTSW 8 123,063,398 (GRCm39) missense probably benign 0.20
R1469:Zfpm1 UTSW 8 123,062,585 (GRCm39) missense probably damaging 0.99
R1469:Zfpm1 UTSW 8 123,062,585 (GRCm39) missense probably damaging 0.99
R1509:Zfpm1 UTSW 8 123,034,285 (GRCm39) missense possibly damaging 0.63
R1938:Zfpm1 UTSW 8 123,061,663 (GRCm39) splice site probably null
R2060:Zfpm1 UTSW 8 123,063,331 (GRCm39) missense probably benign 0.37
R3735:Zfpm1 UTSW 8 123,050,475 (GRCm39) missense possibly damaging 0.83
R3736:Zfpm1 UTSW 8 123,050,475 (GRCm39) missense possibly damaging 0.83
R4528:Zfpm1 UTSW 8 123,062,381 (GRCm39) missense probably benign 0.06
R4735:Zfpm1 UTSW 8 123,062,219 (GRCm39) missense probably benign 0.24
R4924:Zfpm1 UTSW 8 123,061,347 (GRCm39) missense possibly damaging 0.95
R5347:Zfpm1 UTSW 8 123,062,269 (GRCm39) missense possibly damaging 0.94
R5375:Zfpm1 UTSW 8 123,062,812 (GRCm39) missense probably benign 0.00
R5470:Zfpm1 UTSW 8 123,060,532 (GRCm39) missense probably damaging 0.99
R6358:Zfpm1 UTSW 8 123,063,850 (GRCm39) intron probably benign
R6768:Zfpm1 UTSW 8 123,061,195 (GRCm39) missense probably damaging 1.00
R6966:Zfpm1 UTSW 8 123,058,904 (GRCm39) missense probably damaging 1.00
R7422:Zfpm1 UTSW 8 123,063,698 (GRCm39) missense unknown
R7782:Zfpm1 UTSW 8 123,063,689 (GRCm39) missense unknown
R8065:Zfpm1 UTSW 8 123,062,323 (GRCm39) missense probably benign 0.00
R8067:Zfpm1 UTSW 8 123,062,323 (GRCm39) missense probably benign 0.00
R8192:Zfpm1 UTSW 8 123,058,833 (GRCm39) missense probably damaging 1.00
R8835:Zfpm1 UTSW 8 123,063,772 (GRCm39) missense unknown
R9308:Zfpm1 UTSW 8 123,034,231 (GRCm39) missense probably benign 0.13
R9342:Zfpm1 UTSW 8 123,061,308 (GRCm39) missense probably benign 0.29
R9698:Zfpm1 UTSW 8 123,063,868 (GRCm39) missense unknown
R9763:Zfpm1 UTSW 8 123,062,531 (GRCm39) missense probably damaging 1.00
Z1192:Zfpm1 UTSW 8 123,060,612 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAACAGCACTCGCTGATGCAC -3'
(R):5'- AGGTGATCTCGCACTCAAAGCACG -3'

Sequencing Primer
(F):5'- CATCCTCAGGACTGGACAGTAAG -3'
(R):5'- ACGTGGCACCCTTAGTCC -3'
Posted On 2013-11-07