Incidental Mutation 'IGL02743:Edrf1'
| ID |
305992 |
| 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)
|
| Stock # |
IGL02743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
133239422-133274710 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 133258220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051169]
[ENSMUST00000128901]
[ENSMUST00000138370]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051169
|
| SMART Domains |
Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
| 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
|
| SMART Domains |
Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
A |
C |
5: 88,612,343 (GRCm39) |
D188A |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,270,054 (GRCm39) |
E365G |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| AW554918 |
C |
T |
18: 25,423,001 (GRCm39) |
Q151* |
probably null |
Het |
| Chd6 |
T |
C |
2: 160,802,183 (GRCm39) |
D2217G |
probably damaging |
Het |
| Cntn5 |
T |
A |
9: 9,984,115 (GRCm39) |
E166V |
probably damaging |
Het |
| Cyp4f15 |
T |
C |
17: 32,918,926 (GRCm39) |
S319P |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,792,821 (GRCm39) |
V279I |
possibly damaging |
Het |
| Fmo3 |
A |
T |
1: 162,786,052 (GRCm39) |
F313I |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,221 (GRCm39) |
D245G |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,818,661 (GRCm39) |
|
probably null |
Het |
| Mfn1 |
A |
T |
3: 32,628,439 (GRCm39) |
H690L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,159,240 (GRCm39) |
|
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,606 (GRCm39) |
L182* |
probably null |
Het |
| Or4d10b |
A |
G |
19: 12,036,811 (GRCm39) |
F102L |
probably damaging |
Het |
| Or4k45 |
T |
A |
2: 111,394,888 (GRCm39) |
R300S |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,505 (GRCm39) |
I258N |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,075 (GRCm39) |
T299A |
probably damaging |
Het |
| Or8g35 |
G |
A |
9: 39,381,542 (GRCm39) |
T160I |
probably benign |
Het |
| Plcxd3 |
G |
A |
15: 4,604,285 (GRCm39) |
V298I |
possibly damaging |
Het |
| Prrc2b |
C |
T |
2: 32,084,441 (GRCm39) |
S302F |
probably damaging |
Het |
| Serpine2 |
A |
T |
1: 79,779,272 (GRCm39) |
F149I |
probably damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,930,154 (GRCm39) |
L485P |
probably damaging |
Het |
| Spg11 |
T |
A |
2: 121,889,988 (GRCm39) |
H2118L |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stxbp1 |
T |
C |
2: 32,709,913 (GRCm39) |
D60G |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,510,795 (GRCm39) |
E582D |
probably benign |
Het |
| Tmem131 |
T |
G |
1: 36,832,232 (GRCm39) |
I1802L |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,770,696 (GRCm39) |
K829E |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,575,943 (GRCm39) |
M213T |
probably damaging |
Het |
| Wnk2 |
A |
G |
13: 49,248,920 (GRCm39) |
V377A |
probably damaging |
Het |
| Wwox |
T |
G |
8: 116,078,443 (GRCm39) |
Y375D |
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 |
|
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 |
|
|
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