Incidental Mutation 'IGL02540:Zfpm1'
ID297685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfpm1
Ensembl Gene ENSMUSG00000049577
Gene Namezinc finger protein, multitype 1
SynonymsFog1, Friend of GATA-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.796) question?
Stock #IGL02540
Quality Score
Status
Chromosome8
Chromosomal Location122282141-122337251 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122332120 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 160 (S160G)
Ref Sequence ENSEMBL: ENSMUSP00000058037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054052] [ENSMUST00000127664]
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 possibly damaging
Transcript: ENSMUST00000054052
AA Change: S160G

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000058037
Gene: ENSMUSG00000049577
AA Change: S160G

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: ENSMUST00000212315
Coding Region Coverage
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor2 C A 6: 119,359,495 R169L probably benign Het
AI314180 A T 4: 58,805,534 probably benign Het
Arhgap1 C T 2: 91,670,239 T371I probably damaging Het
Brpf3 C T 17: 28,828,354 P1031S probably damaging Het
Cenpu A G 8: 46,578,319 H245R probably damaging Het
Dhx36 A G 3: 62,506,888 S18P probably benign Het
Dst A G 1: 34,135,204 T217A probably damaging Het
Entpd8 A G 2: 25,084,719 probably null Het
Fez1 A G 9: 36,850,399 R122G probably damaging Het
Heatr5b A T 17: 78,773,572 M1417K probably damaging Het
Higd1c T C 15: 100,365,366 probably benign Het
Icosl G A 10: 78,069,536 probably null Het
Il24 T C 1: 130,887,303 probably benign Het
Kank3 T A 17: 33,819,187 probably benign Het
Lrriq1 A G 10: 103,215,019 L624P probably benign Het
Mov10l1 C A 15: 89,018,211 T768K probably benign Het
Olfr259 A T 2: 87,108,042 L115Q probably damaging Het
Olfr304 T A 7: 86,386,178 T161S possibly damaging Het
Olfr995 A G 2: 85,438,915 M81T probably benign Het
Pkn2 A T 3: 142,809,704 F649I probably benign Het
Pld1 A G 3: 28,029,160 probably benign Het
Prrc2c G A 1: 162,723,137 S86L probably damaging Het
Rai1 G A 11: 60,186,924 A605T probably benign Het
Reln T A 5: 22,034,752 Q839L probably damaging Het
Rrp9 T C 9: 106,483,547 probably benign Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tmtc2 A T 10: 105,413,339 C178S probably benign Het
Vmn1r172 T A 7: 23,659,925 F78L probably benign Het
Other mutations in Zfpm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0006:Zfpm1 UTSW 8 122334488 missense probably damaging 1.00
R0508:Zfpm1 UTSW 8 122335133 missense probably damaging 1.00
R0631:Zfpm1 UTSW 8 122336874 intron probably benign
R0729:Zfpm1 UTSW 8 122336659 missense probably benign 0.20
R0883:Zfpm1 UTSW 8 122335846 missense probably damaging 0.99
R1469:Zfpm1 UTSW 8 122335846 missense probably damaging 0.99
R1469:Zfpm1 UTSW 8 122335846 missense probably damaging 0.99
R1509:Zfpm1 UTSW 8 122307546 missense possibly damaging 0.63
R1938:Zfpm1 UTSW 8 122334924 splice site probably null
R2060:Zfpm1 UTSW 8 122336592 missense probably benign 0.37
R3735:Zfpm1 UTSW 8 122323736 missense possibly damaging 0.83
R3736:Zfpm1 UTSW 8 122323736 missense possibly damaging 0.83
R4528:Zfpm1 UTSW 8 122335642 missense probably benign 0.06
R4735:Zfpm1 UTSW 8 122335480 missense probably benign 0.24
R4924:Zfpm1 UTSW 8 122334608 missense possibly damaging 0.95
R5347:Zfpm1 UTSW 8 122335530 missense possibly damaging 0.94
R5375:Zfpm1 UTSW 8 122336073 missense probably benign 0.00
R5470:Zfpm1 UTSW 8 122333793 missense probably damaging 0.99
R6358:Zfpm1 UTSW 8 122337111 intron probably benign
R6768:Zfpm1 UTSW 8 122334456 missense probably damaging 1.00
R6966:Zfpm1 UTSW 8 122332165 missense probably damaging 1.00
R7422:Zfpm1 UTSW 8 122336959 missense unknown
R7782:Zfpm1 UTSW 8 122336950 missense unknown
R8065:Zfpm1 UTSW 8 122335584 missense probably benign 0.00
R8067:Zfpm1 UTSW 8 122335584 missense probably benign 0.00
Posted On2015-04-16