Incidental Mutation 'IGL01893:Edrf1'
ID179302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Edrf1
Ensembl Gene ENSMUSG00000039990
Gene Nameerythroid differentiation regulatory factor 1
Synonyms2700050L05Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.642) question?
Stock #IGL01893
Quality Score
Status
Chromosome7
Chromosomal Location133637543-133672971 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 133657102 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 770 (F770L)
Ref Sequence ENSEMBL: ENSMUSP00000059166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051169] [ENSMUST00000128901] [ENSMUST00000138370]
Predicted Effect probably benign
Transcript: ENSMUST00000051169
AA Change: F770L

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: F770L

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: F736L

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: F736L

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T A 3: 116,788,549 I275F probably damaging Het
Avil G A 10: 127,020,546 E815K possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Car9 T A 4: 43,510,252 I278N probably damaging Het
Cast T A 13: 74,727,289 K480* probably null Het
Cenpj A G 14: 56,553,474 F373L probably damaging Het
Cspp1 T C 1: 10,134,141 probably null Het
Diaph3 G A 14: 86,918,852 T675I possibly damaging Het
Dip2b A T 15: 100,171,220 probably benign Het
Dnah1 T C 14: 31,266,470 D3425G probably damaging Het
Dolk A G 2: 30,285,914 Y40H probably benign Het
Drosha T C 15: 12,866,650 probably benign Het
Dusp15 A G 2: 152,949,036 probably null Het
Gabra1 T C 11: 42,133,759 K363R possibly damaging Het
Glipr1l1 A C 10: 112,076,169 T203P probably benign Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H2-Q10 T C 17: 35,473,271 S270P probably damaging Het
Hipk2 A T 6: 38,818,395 M313K probably benign Het
Htt T A 5: 34,876,830 I1920N probably damaging Het
Lsr A T 7: 30,962,232 V210E possibly damaging Het
Mbtd1 A T 11: 93,921,412 I181L probably null Het
Mettl16 A T 11: 74,805,271 T273S possibly damaging Het
Mlst8 T C 17: 24,477,987 N74D probably benign Het
Nek9 A G 12: 85,336,400 I102T probably damaging Het
Nme7 C T 1: 164,345,281 A187V probably damaging Het
Nphp1 A T 2: 127,769,644 W261R probably damaging Het
Olfr1148 G T 2: 87,833,863 G275* probably null Het
Olfr1306 A T 2: 111,912,244 S229T possibly damaging Het
Olfr90 A G 17: 37,085,868 L99P probably damaging Het
Orc6 A G 8: 85,307,643 D165G probably damaging Het
Ovca2 A G 11: 75,178,307 S89P probably benign Het
Pcdhb12 T G 18: 37,437,210 S470A probably benign Het
Phactr2 T C 10: 13,247,188 T397A probably benign Het
Pms2 T C 5: 143,923,519 L50P probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Serpinb11 C A 1: 107,377,657 S254R probably benign Het
Serpinb11 C A 1: 107,377,658 Q255K probably benign Het
Skap2 T C 6: 51,874,576 T79A probably damaging Het
Tbx19 A T 1: 165,140,198 S327T possibly damaging Het
Themis3 A G 17: 66,559,627 L206P possibly damaging Het
Tmem132c T A 5: 127,463,029 L373Q possibly damaging Het
Unc13c G T 9: 73,693,366 N1365K probably benign Het
Vmn2r106 A T 17: 20,277,468 M503K probably benign Het
Vmn2r33 A G 7: 7,563,777 I112T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13a A C 19: 16,663,775 W2328G probably damaging Het
Other mutations in Edrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Edrf1 APN 7 133658553 nonsense probably null
IGL01637:Edrf1 APN 7 133650525 missense probably damaging 1.00
IGL01697:Edrf1 APN 7 133643730 missense probably benign 0.02
IGL02202:Edrf1 APN 7 133656970 missense probably benign 0.00
IGL02278:Edrf1 APN 7 133657000 missense probably benign 0.00
IGL02382:Edrf1 APN 7 133650615 splice site probably benign
IGL02743:Edrf1 APN 7 133656491 unclassified probably benign
R0265:Edrf1 UTSW 7 133657045 missense probably damaging 1.00
R0282:Edrf1 UTSW 7 133644022 missense probably benign 0.21
R1167:Edrf1 UTSW 7 133644066 missense probably benign 0.08
R1633:Edrf1 UTSW 7 133652140 missense probably damaging 1.00
R2039:Edrf1 UTSW 7 133653949 nonsense probably null
R2060:Edrf1 UTSW 7 133657129 nonsense probably null
R2920:Edrf1 UTSW 7 133667572 missense probably benign 0.00
R4770:Edrf1 UTSW 7 133658610 missense probably damaging 0.99
R4887:Edrf1 UTSW 7 133658610 missense probably damaging 0.99
R4888:Edrf1 UTSW 7 133658610 missense probably damaging 0.99
R5135:Edrf1 UTSW 7 133651044 missense probably benign 0.03
R5156:Edrf1 UTSW 7 133660179 missense probably damaging 1.00
R5290:Edrf1 UTSW 7 133650566 missense probably damaging 0.98
R5342:Edrf1 UTSW 7 133651910 intron probably null
R5416:Edrf1 UTSW 7 133641402 missense possibly damaging 0.52
R5450:Edrf1 UTSW 7 133658610 missense probably damaging 0.99
R5906:Edrf1 UTSW 7 133663415 missense probably benign
R6272:Edrf1 UTSW 7 133637808 start gained probably benign
R6275:Edrf1 UTSW 7 133667582 missense possibly damaging 0.60
R7144:Edrf1 UTSW 7 133637849 missense probably benign
R7244:Edrf1 UTSW 7 133654350 missense probably benign 0.01
R7716:Edrf1 UTSW 7 133643726 missense probably damaging 0.99
R8193:Edrf1 UTSW 7 133661877 missense possibly damaging 0.95
R8197:Edrf1 UTSW 7 133647359 missense probably benign 0.41
Posted On2014-05-07