Incidental Mutation 'IGL02278:Edrf1'
ID 289769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Edrf1
Ensembl Gene ENSMUSG00000039990
Gene Name erythroid differentiation regulatory factor 1
Synonyms 2700050L05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # IGL02278
Quality Score
Status
Chromosome 7
Chromosomal Location 133239422-133274710 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133258729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 702 (S702P)
Ref Sequence ENSEMBL: ENSMUSP00000115641 (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: S736P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: S736P

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: S702P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: S702P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211072
Coding Region Coverage
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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs4 T A 9: 59,248,451 (GRCm39) Q84L possibly damaging Het
Cemip A T 7: 83,586,646 (GRCm39) W1303R probably damaging Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Nav1 G A 1: 135,391,452 (GRCm39) probably benign Het
Pramel5 A G 4: 143,998,121 (GRCm39) L374P probably damaging Het
Slc2a2 T C 3: 28,771,604 (GRCm39) I178T probably damaging Het
Tsnaxip1 A G 8: 106,554,413 (GRCm39) probably benign Het
Zfp850 T A 7: 27,707,822 (GRCm39) Q7L probably damaging 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
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
R9552:Edrf1 UTSW 7 133,240,742 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16