Incidental Mutation 'R6358:Zfpm1'
ID 513341
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 044508-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.797) question?
Stock # R6358 (G1)
Quality Score 194.009
Status Validated
Chromosome 8
Chromosomal Location 123008880-123063990 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 123063850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054052] [ENSMUST00000127664]
AlphaFold O35615
Predicted Effect unknown
Transcript: ENSMUST00000054052
AA Change: I970V
SMART Domains Protein: ENSMUSP00000058037
Gene: ENSMUSG00000049577
AA Change: I970V

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 0.3405 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,279,718 (GRCm39) V703A probably benign Het
Adgrv1 T A 13: 81,562,702 (GRCm39) Q5389L probably damaging Het
Aldh18a1 A T 19: 40,566,122 (GRCm39) I42N possibly damaging Het
Ankrd28 A C 14: 31,432,821 (GRCm39) C575W probably damaging Het
Car14 T A 3: 95,805,487 (GRCm39) T329S possibly damaging Het
Cdhr2 T C 13: 54,884,359 (GRCm39) F1298S probably damaging Het
Crhr2 A G 6: 55,070,028 (GRCm39) I341T probably benign Het
D5Ertd579e T A 5: 36,773,580 (GRCm39) probably null Het
Eif1ad3 A G 12: 87,843,770 (GRCm39) E139G unknown Het
Emilin1 A G 5: 31,075,562 (GRCm39) E601G probably damaging Het
Erbin T A 13: 103,982,073 (GRCm39) Q456L probably damaging Het
Glp1r T C 17: 31,151,618 (GRCm39) V405A probably benign Het
Gm10220 C G 5: 26,325,303 (GRCm39) probably null Het
Gm527 A T 12: 64,970,322 (GRCm39) H219L possibly damaging Het
Gorasp2 T A 2: 70,503,104 (GRCm39) M1K probably null Het
H2-DMa T A 17: 34,356,958 (GRCm39) L152H probably damaging Het
Hsd3b7 T A 7: 127,400,709 (GRCm39) H54Q probably damaging Het
Hspa12b T C 2: 130,978,986 (GRCm39) probably benign Het
Iars1 C A 13: 49,880,619 (GRCm39) T1006K possibly damaging Het
Jmjd1c T C 10: 67,061,718 (GRCm39) V1357A probably benign Het
Magi3 T C 3: 103,958,268 (GRCm39) M606V probably damaging Het
Mia T C 7: 26,880,403 (GRCm39) D24G probably benign Het
Mon2 A T 10: 122,849,409 (GRCm39) L1297Q probably damaging Het
Musk T A 4: 58,373,171 (GRCm39) S691T possibly damaging Het
Myo5c A T 9: 75,203,294 (GRCm39) E1463D possibly damaging Het
Ndufs6 C T 13: 73,468,438 (GRCm39) G87D probably damaging Het
Npnt C T 3: 132,610,479 (GRCm39) V415I probably benign Het
Ntsr2 A G 12: 16,706,769 (GRCm39) I266V probably benign Het
Or11j4 A T 14: 50,630,845 (GRCm39) I211F possibly damaging Het
Or5aq7 T C 2: 86,938,778 (GRCm39) probably benign Het
Pkmyt1 T A 17: 23,952,630 (GRCm39) probably null Het
Polr1e T C 4: 45,026,813 (GRCm39) L166P probably damaging Het
Ppib T G 9: 65,968,756 (GRCm39) F48C probably damaging Het
Ppl C A 16: 4,905,793 (GRCm39) E1501* probably null Het
Prpf8 T C 11: 75,382,321 (GRCm39) V384A probably benign Het
Ptch1 T G 13: 63,661,503 (GRCm39) S1212R probably damaging Het
Ralb C A 1: 119,403,735 (GRCm39) D131Y probably damaging Het
Rfx4 T A 10: 84,680,099 (GRCm39) M141K probably damaging Het
Rgl2 T A 17: 34,156,105 (GRCm39) probably null Het
Rpl27 A G 11: 101,334,782 (GRCm39) probably benign Het
Sdc1 A C 12: 8,841,297 (GRCm39) T213P probably damaging Het
Setx T A 2: 29,061,360 (GRCm39) N2256K possibly damaging Het
Shank2 A G 7: 143,585,034 (GRCm39) M12V probably benign Het
Slc22a28 T A 19: 8,049,253 (GRCm39) K332M probably damaging Het
Slf2 A T 19: 44,923,864 (GRCm39) H226L probably benign Het
Tbc1d10b T C 7: 126,802,584 (GRCm39) S362G probably benign Het
Tbxas1 G A 6: 38,929,046 (GRCm39) probably benign Het
Tctn1 A G 5: 122,399,575 (GRCm39) V83A probably damaging Het
Tgm4 A G 9: 122,885,583 (GRCm39) E375G probably damaging Het
Tmeff2 T A 1: 51,172,273 (GRCm39) Y247* probably null Het
Tmem167b C T 3: 108,466,211 (GRCm39) R79H possibly damaging Het
Tmprss7 T G 16: 45,489,936 (GRCm39) M429L probably benign Het
Tnfsf18 T A 1: 161,331,148 (GRCm39) D99E probably benign Het
Tnrc18 A T 5: 142,713,736 (GRCm39) S2534T probably damaging Het
Tnxb A G 17: 34,897,968 (GRCm39) E872G probably damaging Het
Tomm40l C T 1: 171,047,206 (GRCm39) V237I possibly damaging Het
Trbv2 A G 6: 41,024,836 (GRCm39) Q84R probably benign Het
Tspan18 T C 2: 93,040,219 (GRCm39) R179G probably benign Het
Tspan8 G T 10: 115,669,132 (GRCm39) V56L probably benign Het
Zbtb22 T C 17: 34,137,711 (GRCm39) S619P probably damaging Het
Zfp2 A T 11: 50,791,428 (GRCm39) I205N probably damaging 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
R0883: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
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
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'- CGACCTGGTTGAGCATTTGC -3'
(R):5'- CACTAGATCTAAGACAACAGGCTG -3'

Sequencing Primer
(F):5'- GCCTGCAGGTGGCCAAG -3'
(R):5'- GGGCCTCCAGCGAATTTATCAC -3'
Posted On 2018-04-27