Incidental Mutation 'R9552:Edrf1'
ID 720552
Institutional Source Beutler Lab
Gene Symbol Edrf1
Ensembl Gene ENSMUSG00000039990
Gene Name erythroid differentiation regulatory factor 1
Synonyms 2700050L05Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R9552 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 133239422-133274710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133240742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 73 (D73G)
Ref Sequence ENSEMBL: ENSMUSP00000059166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051169] [ENSMUST00000128901]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000051169
AA Change: D73G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: D73G

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
low complexity region 116 128 N/A INTRINSIC
low complexity region 219 237 N/A INTRINSIC
low complexity region 254 264 N/A INTRINSIC
low complexity region 467 477 N/A INTRINSIC
low complexity region 529 549 N/A INTRINSIC
low complexity region 1171 1184 N/A INTRINSIC
low complexity region 1229 1237 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000128901
AA Change: D73G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: D73G

DomainStartEndE-ValueType
low complexity region 8 29 N/A INTRINSIC
low complexity region 116 128 N/A INTRINSIC
low complexity region 219 237 N/A INTRINSIC
low complexity region 254 264 N/A INTRINSIC
low complexity region 433 443 N/A INTRINSIC
low complexity region 495 515 N/A INTRINSIC
low complexity region 1137 1150 N/A INTRINSIC
low complexity region 1195 1203 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Abhd6 T C 14: 8,028,329 (GRCm38) I20T possibly damaging Het
Adamts1 A G 16: 85,599,505 (GRCm39) S32P probably benign Het
Ak7 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 12: 105,676,448 (GRCm39) probably benign Het
Arhgap21 A T 2: 20,886,397 (GRCm39) V270E probably damaging Het
Birc6 T A 17: 74,916,064 (GRCm39) L1660Q probably benign Het
Blvrb A G 7: 27,158,786 (GRCm39) D62G probably benign Het
Ccdc68 T A 18: 70,089,113 (GRCm39) S219T probably damaging Het
Cnbp A G 6: 87,822,108 (GRCm39) Y139H probably damaging Het
Csmd3 T A 15: 48,655,356 (GRCm39) probably benign Het
Cyp2c66 T C 19: 39,172,246 (GRCm39) V387A probably damaging Het
Cyp2j7 C T 4: 96,115,840 (GRCm39) R202H probably damaging Het
Ercc6 C T 14: 32,284,525 (GRCm39) R763C probably damaging Het
Gm8159 T A 14: 15,850,264 (GRCm39) I161K probably damaging Het
Gramd1c A T 16: 43,807,294 (GRCm39) M356K probably damaging Het
Has2 T C 15: 56,531,090 (GRCm39) K542E probably benign Het
Hipk3 T C 2: 104,301,850 (GRCm39) N114S probably benign Het
Hs3st6 T C 17: 24,977,228 (GRCm39) L236P probably damaging Het
Il15 T A 8: 83,061,177 (GRCm39) H100L probably benign Het
Kcnh5 T C 12: 75,023,334 (GRCm39) Y578C probably benign Het
Lctl A G 9: 64,025,049 (GRCm39) I12V probably benign Het
Mark2 G T 19: 7,263,263 (GRCm39) T201N possibly damaging Het
Mef2c A G 13: 83,810,461 (GRCm39) N371S probably benign Het
Mgst3 T C 1: 167,205,871 (GRCm39) Y36C probably damaging Het
Ndst1 G T 18: 60,845,931 (GRCm39) T126K probably damaging Het
Nid1 T A 13: 13,677,045 (GRCm39) I995N probably damaging Het
Nr2e1 A T 10: 42,447,487 (GRCm39) M175K probably benign Het
Nrxn1 T C 17: 90,937,450 (GRCm39) K669R probably damaging Het
Or5d14 C T 2: 87,880,509 (GRCm39) W153* probably null Het
Or6k4 A T 1: 173,964,885 (GRCm39) T192S probably benign Het
Pbx1 T C 1: 168,258,910 (GRCm39) D55G possibly damaging Het
Pck2 T A 14: 55,780,081 (GRCm39) I110N probably damaging Het
Pkn2 T C 3: 142,499,594 (GRCm39) D977G probably damaging Het
Pyroxd2 A G 19: 42,719,756 (GRCm39) probably null Het
Rapgef4 A G 2: 72,008,561 (GRCm39) I246M probably benign Het
Rnasel T A 1: 153,630,673 (GRCm39) N396K possibly damaging Het
Scaf1 A G 7: 44,658,351 (GRCm39) L176P probably damaging Het
Scgb1b12 C A 7: 32,033,974 (GRCm39) A78E probably benign Het
Scgb2b19 A G 7: 32,979,198 (GRCm39) F28S probably damaging Het
Skint5 C T 4: 113,798,052 (GRCm39) C177Y possibly damaging Het
Slitrk5 C T 14: 111,916,496 (GRCm39) T40I probably benign Het
Slu7 G A 11: 43,329,095 (GRCm39) V106I probably benign Het
Sorbs1 G A 19: 40,361,923 (GRCm39) R154* probably null Het
Stc2 A G 11: 31,310,332 (GRCm39) S235P probably benign Het
Stt3a T C 9: 36,645,675 (GRCm39) D672G probably benign Het
Tcerg1l T C 7: 137,995,998 (GRCm39) D170G possibly damaging Het
Tcf15 T C 2: 151,986,039 (GRCm39) L165P probably damaging Het
Tgm1 T C 14: 55,950,933 (GRCm39) probably benign Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmco4 G A 4: 138,779,895 (GRCm39) V447M probably damaging Het
Trf C T 9: 103,099,283 (GRCm39) V339I probably benign Het
Ucp1 T C 8: 84,024,509 (GRCm39) L278P probably damaging Het
Unc80 A G 1: 66,717,282 (GRCm39) D2946G possibly damaging Het
Vmn1r82 A G 7: 12,039,600 (GRCm39) N291S possibly damaging Het
Vmn1r86 A T 7: 12,836,781 (GRCm39) Y32N possibly damaging Het
Wdr49 T C 3: 75,230,931 (GRCm39) D577G probably benign Het
Wnt10b C A 15: 98,670,713 (GRCm39) G272W probably damaging Het
Yipf4 T C 17: 74,806,024 (GRCm39) F221S probably damaging Het
Zfp512 G A 5: 31,623,676 (GRCm39) C14Y probably benign Het
Zfp658 G T 7: 43,222,567 (GRCm39) V281F probably benign Het
Zfp827 T G 8: 79,787,403 (GRCm39) W190G probably damaging Het
Zpld2 G A 4: 133,929,312 (GRCm39) P331L probably benign Het
Other mutations in Edrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Edrf1 APN 7 133,260,282 (GRCm39) nonsense probably null
IGL01637:Edrf1 APN 7 133,252,254 (GRCm39) missense probably damaging 1.00
IGL01697:Edrf1 APN 7 133,245,459 (GRCm39) missense probably benign 0.02
IGL01893:Edrf1 APN 7 133,258,831 (GRCm39) missense probably benign 0.09
IGL02202:Edrf1 APN 7 133,258,699 (GRCm39) missense probably benign 0.00
IGL02278:Edrf1 APN 7 133,258,729 (GRCm39) missense probably benign 0.00
IGL02382:Edrf1 APN 7 133,252,344 (GRCm39) splice site probably benign
IGL02743:Edrf1 APN 7 133,258,220 (GRCm39) unclassified probably benign
R0265:Edrf1 UTSW 7 133,258,774 (GRCm39) missense probably damaging 1.00
R0282:Edrf1 UTSW 7 133,245,751 (GRCm39) missense probably benign 0.21
R1167:Edrf1 UTSW 7 133,245,795 (GRCm39) missense probably benign 0.08
R1633:Edrf1 UTSW 7 133,253,869 (GRCm39) missense probably damaging 1.00
R2039:Edrf1 UTSW 7 133,255,678 (GRCm39) nonsense probably null
R2060:Edrf1 UTSW 7 133,258,858 (GRCm39) nonsense probably null
R2920:Edrf1 UTSW 7 133,269,301 (GRCm39) missense probably benign 0.00
R4770:Edrf1 UTSW 7 133,260,339 (GRCm39) missense probably damaging 0.99
R4887:Edrf1 UTSW 7 133,260,339 (GRCm39) missense probably damaging 0.99
R4888:Edrf1 UTSW 7 133,260,339 (GRCm39) missense probably damaging 0.99
R5135:Edrf1 UTSW 7 133,252,773 (GRCm39) missense probably benign 0.03
R5156:Edrf1 UTSW 7 133,261,908 (GRCm39) missense probably damaging 1.00
R5290:Edrf1 UTSW 7 133,252,295 (GRCm39) missense probably damaging 0.98
R5342:Edrf1 UTSW 7 133,253,639 (GRCm39) splice site probably null
R5416:Edrf1 UTSW 7 133,243,131 (GRCm39) missense possibly damaging 0.52
R5450:Edrf1 UTSW 7 133,260,339 (GRCm39) missense probably damaging 0.99
R5906:Edrf1 UTSW 7 133,265,144 (GRCm39) missense probably benign
R6272:Edrf1 UTSW 7 133,239,537 (GRCm39) start gained probably benign
R6275:Edrf1 UTSW 7 133,269,311 (GRCm39) missense possibly damaging 0.60
R7144:Edrf1 UTSW 7 133,239,578 (GRCm39) missense probably benign
R7244:Edrf1 UTSW 7 133,256,079 (GRCm39) missense probably benign 0.01
R7716:Edrf1 UTSW 7 133,245,455 (GRCm39) missense probably damaging 0.99
R8193:Edrf1 UTSW 7 133,263,606 (GRCm39) missense possibly damaging 0.95
R8197:Edrf1 UTSW 7 133,249,088 (GRCm39) missense probably benign 0.41
R8553:Edrf1 UTSW 7 133,252,047 (GRCm39) missense possibly damaging 0.88
R8710:Edrf1 UTSW 7 133,245,495 (GRCm39) missense probably damaging 1.00
R8839:Edrf1 UTSW 7 133,255,644 (GRCm39) missense probably benign 0.00
R9035:Edrf1 UTSW 7 133,245,431 (GRCm39) missense probably damaging 0.97
R9051:Edrf1 UTSW 7 133,273,207 (GRCm39) missense probably benign 0.00
R9121:Edrf1 UTSW 7 133,258,770 (GRCm39) frame shift probably null
R9396:Edrf1 UTSW 7 133,261,838 (GRCm39) missense possibly damaging 0.79
R9551:Edrf1 UTSW 7 133,240,742 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCCTTGTGAATCCTGATTTG -3'
(R):5'- GCATCTCCAATTGAACTGCG -3'

Sequencing Primer
(F):5'- ATCCTGATTTGGTGGGTTCTTAATTC -3'
(R):5'- AGCAGCTTTCAGAGCTTC -3'
Posted On 2022-08-09