Incidental Mutation 'IGL02202:Edrf1'
| ID |
284356 |
| 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: 0.926)
|
| Stock # |
IGL02202
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
133239422-133274710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133258699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 692
(T692A)
|
| 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: T726A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: T726A
| Domain | Start | End | E-Value | Type |
|---|
|
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: T692A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: T692A
| Domain | Start | End | E-Value | Type |
|---|
|
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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,238,529 (GRCm39) |
T709I |
possibly damaging |
Het |
| Acte1 |
T |
A |
7: 143,447,910 (GRCm39) |
M251K |
possibly damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,612,854 (GRCm39) |
Y185* |
probably null |
Het |
| Atxn7l1 |
T |
C |
12: 33,392,077 (GRCm39) |
S218P |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,723 (GRCm39) |
L126Q |
probably damaging |
Het |
| Cdc6 |
T |
A |
11: 98,811,641 (GRCm39) |
|
probably null |
Het |
| Cenph |
T |
C |
13: 100,898,381 (GRCm39) |
N174S |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,936,207 (GRCm39) |
R49G |
possibly damaging |
Het |
| Frem2 |
A |
T |
3: 53,562,220 (GRCm39) |
H762Q |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,764,596 (GRCm39) |
D1185G |
probably damaging |
Het |
| Hsd3b2 |
T |
A |
3: 98,619,183 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Itgal |
C |
A |
7: 126,929,351 (GRCm39) |
Y1089* |
probably null |
Het |
| Klf11 |
T |
G |
12: 24,703,631 (GRCm39) |
V22G |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,667,749 (GRCm39) |
V636A |
probably benign |
Het |
| Nin |
T |
A |
12: 70,102,210 (GRCm39) |
D330V |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Ntsr2 |
T |
A |
12: 16,703,661 (GRCm39) |
V54E |
probably damaging |
Het |
| Or7g27 |
C |
A |
9: 19,250,545 (GRCm39) |
A263E |
probably benign |
Het |
| Pdha2 |
T |
C |
3: 140,916,412 (GRCm39) |
I365M |
probably benign |
Het |
| Prr19 |
T |
C |
7: 25,003,462 (GRCm39) |
S359P |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,745,274 (GRCm39) |
K2040E |
probably damaging |
Het |
| Ryr2 |
C |
A |
13: 11,762,544 (GRCm39) |
|
probably benign |
Het |
| Sema4a |
G |
T |
3: 88,357,050 (GRCm39) |
A307E |
probably damaging |
Het |
| Setd5 |
T |
A |
6: 113,127,976 (GRCm39) |
S1310T |
probably benign |
Het |
| Tph1 |
A |
T |
7: 46,303,185 (GRCm39) |
D264E |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,858,501 (GRCm39) |
L844P |
probably damaging |
Het |
|
| Other mutations in Edrf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
R9552:Edrf1
|
UTSW |
7 |
133,240,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation