Incidental Mutation 'R5342:Edrf1'
| ID |
422386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edrf1
|
| Ensembl Gene |
ENSMUSG00000039990 |
| Gene Name |
erythroid differentiation regulatory factor 1 |
| Synonyms |
2700050L05Rik |
| MMRRC Submission |
042921-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R5342 (G1)
|
| Quality Score |
171 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
133239422-133274710 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 133253639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051169]
[ENSMUST00000128901]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000211072
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb3 |
A |
C |
8: 27,716,809 (GRCm39) |
Y392* |
probably null |
Het |
| Arap1 |
G |
A |
7: 101,054,167 (GRCm39) |
E1330K |
probably benign |
Het |
| Atg2b |
G |
T |
12: 105,625,175 (GRCm39) |
D600E |
possibly damaging |
Het |
| Atp1b2 |
C |
T |
11: 69,493,654 (GRCm39) |
V142I |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,505,847 (GRCm39) |
M450K |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,220,298 (GRCm39) |
D65G |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,719,470 (GRCm39) |
|
silent |
Het |
| Cdca7l |
A |
G |
12: 117,840,768 (GRCm39) |
Y430C |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,872,775 (GRCm39) |
T343A |
probably benign |
Het |
| Clec2g |
C |
T |
6: 128,925,714 (GRCm39) |
A41V |
probably benign |
Het |
| Crybg3 |
A |
T |
16: 59,342,512 (GRCm39) |
Y2708N |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,502,803 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
T |
18: 50,084,302 (GRCm39) |
E2758V |
probably damaging |
Het |
| Eci2 |
C |
T |
13: 35,162,707 (GRCm39) |
E283K |
probably benign |
Het |
| Eif3b |
T |
C |
5: 140,411,035 (GRCm39) |
L162P |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,378,648 (GRCm39) |
I210V |
probably benign |
Het |
| Exoc1 |
A |
G |
5: 76,714,861 (GRCm39) |
N739S |
probably damaging |
Het |
| Gm7334 |
A |
G |
17: 51,005,782 (GRCm39) |
K23E |
probably benign |
Het |
| Gm7356 |
T |
G |
17: 14,221,360 (GRCm39) |
D223A |
possibly damaging |
Het |
| Klhl26 |
A |
G |
8: 70,908,215 (GRCm39) |
L47P |
probably damaging |
Het |
| Klhl42 |
C |
T |
6: 146,993,784 (GRCm39) |
T252I |
possibly damaging |
Het |
| Morc1 |
G |
T |
16: 48,438,872 (GRCm39) |
G756W |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,943,615 (GRCm39) |
E384* |
probably null |
Het |
| Nol10 |
G |
A |
12: 17,419,621 (GRCm39) |
|
probably null |
Het |
| Nxpe5 |
T |
C |
5: 138,237,503 (GRCm39) |
L9P |
probably damaging |
Het |
| Or2r3 |
A |
G |
6: 42,448,836 (GRCm39) |
I92T |
probably damaging |
Het |
| Or52z12 |
C |
T |
7: 103,234,035 (GRCm39) |
R269C |
probably benign |
Het |
| Or7e166 |
A |
G |
9: 19,624,333 (GRCm39) |
D70G |
probably damaging |
Het |
| Pak2 |
T |
C |
16: 31,863,306 (GRCm39) |
E94G |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,724 (GRCm39) |
K250E |
possibly damaging |
Het |
| Pde8b |
T |
C |
13: 95,178,498 (GRCm39) |
T541A |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,712,969 (GRCm39) |
I751N |
probably damaging |
Het |
| Prpsap2 |
T |
C |
11: 61,622,396 (GRCm39) |
D269G |
probably damaging |
Het |
| Raver2 |
C |
A |
4: 100,959,889 (GRCm39) |
T123K |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,666 (GRCm39) |
D600N |
possibly damaging |
Het |
| Scn2b |
A |
G |
9: 45,036,816 (GRCm39) |
Y108C |
probably damaging |
Het |
| Sdr16c6 |
T |
C |
4: 4,069,923 (GRCm39) |
E139G |
probably damaging |
Het |
| Sgpp2 |
A |
G |
1: 78,336,825 (GRCm39) |
I68V |
probably benign |
Het |
| Sorbs2 |
T |
A |
8: 46,249,050 (GRCm39) |
I687N |
probably damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,784,911 (GRCm39) |
|
probably null |
Het |
| Stk16 |
T |
A |
1: 75,189,609 (GRCm39) |
C174S |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,937,819 (GRCm39) |
E80G |
probably benign |
Het |
| Ttll9 |
C |
A |
2: 152,833,572 (GRCm39) |
N198K |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,838,105 (GRCm39) |
D915E |
probably benign |
Het |
| Unc5b |
T |
A |
10: 60,614,046 (GRCm39) |
K268* |
probably null |
Het |
| Vim |
T |
A |
2: 13,584,824 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,343,805 (GRCm39) |
N2015K |
probably damaging |
Het |
| Zfp160 |
T |
G |
17: 21,240,995 (GRCm39) |
M21R |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAAAGCTTGTCTGCAGTG -3'
(R):5'- TGTCATCTGCTGGGTCAGAG -3'
Sequencing Primer
(F):5'- TGCAGTGGCGGAGGAGG -3'
(R):5'- GGTGCTGTAGGATCCATTCTCATC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation