Incidental Mutation 'R8839:Edrf1'
ID 674322
Institutional Source Beutler Lab
Gene Symbol Edrf1
Ensembl Gene ENSMUSG00000039990
Gene Name erythroid differentiation regulatory factor 1
Synonyms 2700050L05Rik
MMRRC Submission 068667-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R8839 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 133239422-133274710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133255644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 597 (D597G)
Ref Sequence ENSEMBL: ENSMUSP00000059166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051169] [ENSMUST00000128901] [ENSMUST00000138370]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000051169
AA Change: D597G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: D597G

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 benign
Transcript: ENSMUST00000128901
AA Change: D563G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: D563G

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
Predicted Effect probably benign
Transcript: ENSMUST00000138370
Meta Mutation Damage Score 0.0672 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 T C 11: 105,889,194 (GRCm39) Y475H probably damaging Het
Ankfy1 T C 11: 72,621,392 (GRCm39) I226T probably benign Het
Anln G A 9: 22,267,468 (GRCm39) S825L probably benign Het
Aoc1l2 T C 6: 48,907,974 (GRCm39) Y325H probably damaging Het
Arb2a A T 13: 78,147,781 (GRCm39) H283L probably benign Het
B3galt4 A G 17: 34,169,867 (GRCm39) S124P possibly damaging Het
Cabin1 T C 10: 75,492,650 (GRCm39) I1882V probably benign Het
Caprin2 A T 6: 148,774,525 (GRCm39) S262R probably benign Het
Csmd2 A C 4: 128,336,681 (GRCm39) I1420L Het
Cyp2b9 T G 7: 25,900,185 (GRCm39) V331G probably damaging Het
Cyp3a59 A T 5: 146,045,896 (GRCm39) M433L probably benign Het
Emc3 G A 6: 113,496,931 (GRCm39) R147C possibly damaging Het
Fkbp7 T C 2: 76,497,581 (GRCm39) probably benign Het
Flii T C 11: 60,609,433 (GRCm39) T665A possibly damaging Het
Fxr1 A G 3: 34,100,831 (GRCm39) probably benign Het
Gpr37 T G 6: 25,669,369 (GRCm39) I492L probably benign Het
Hmg20b A C 10: 81,184,749 (GRCm39) W108G probably damaging Het
Ighv9-3 G A 12: 114,104,385 (GRCm39) T93I possibly damaging Het
Inpp5a T C 7: 138,969,349 (GRCm39) V15A probably benign Het
Inpp5d T A 1: 87,619,433 (GRCm39) Y376N probably damaging Het
Ints6 A G 14: 62,931,122 (GRCm39) F854L probably benign Het
Ipo7 A T 7: 109,641,223 (GRCm39) K314N probably damaging Het
Ltn1 C A 16: 87,215,390 (GRCm39) C415F probably damaging Het
Mfsd9 T C 1: 40,813,554 (GRCm39) T254A probably benign Het
Musk A G 4: 58,286,151 (GRCm39) T14A probably benign Het
Ncapd3 T C 9: 27,005,730 (GRCm39) V1438A Het
Nnt A T 13: 119,494,173 (GRCm39) V636D unknown Het
Or10ak14 A G 4: 118,611,411 (GRCm39) L110P probably damaging Het
Or11h23 A T 14: 50,947,957 (GRCm39) T57S possibly damaging Het
Or52ae9 A G 7: 103,390,021 (GRCm39) I142T probably benign Het
Ost4 T C 5: 31,064,935 (GRCm39) probably benign Het
Pdzph1 T C 17: 59,257,237 (GRCm39) T934A probably benign Het
Plekhn1 T A 4: 156,307,046 (GRCm39) probably benign Het
Prkd1 T C 12: 50,389,616 (GRCm39) probably benign Het
Ptch1 A T 13: 63,689,038 (GRCm39) L413Q probably damaging Het
S100pbp A G 4: 129,076,000 (GRCm39) probably null Het
Sec23a T C 12: 59,037,781 (GRCm39) K361E possibly damaging Het
Sema3b C T 9: 107,478,552 (GRCm39) probably benign Het
Serpina3g A G 12: 104,204,038 (GRCm39) probably benign Het
Slc23a2 C T 2: 131,943,392 (GRCm39) silent Het
Smug1 T C 15: 103,064,247 (GRCm39) R225G possibly damaging Het
Srbd1 T A 17: 86,295,849 (GRCm39) I854L probably benign Het
Tbc1d16 G A 11: 119,047,474 (GRCm39) R417C probably damaging Het
Tiam1 A G 16: 89,681,827 (GRCm39) Y384H probably damaging Het
Trappc9 T A 15: 72,930,087 (GRCm39) K90* probably null Het
Tubgcp6 A T 15: 88,987,681 (GRCm39) H1097Q possibly damaging Het
Ugt2b37 A G 5: 87,402,415 (GRCm39) L72P probably damaging Het
Vmn2r20 A T 6: 123,373,515 (GRCm39) H442Q possibly damaging Het
Vmn2r65 A T 7: 84,595,489 (GRCm39) Y398* probably null Het
Zfhx4 A G 3: 5,466,915 (GRCm39) T2383A 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
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
R9552:Edrf1 UTSW 7 133,240,742 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAAGATTTGAAACAGTGCTG -3'
(R):5'- CTACATATGATCTGAAAGACTTGGG -3'

Sequencing Primer
(F):5'- CAGTGCTGAAAACATTTGTATCAG -3'
(R):5'- CTGAAAGACTTGGGAAAATGATTTG -3'
Posted On 2021-07-15