Incidental Mutation 'R8839:Edrf1'
ID |
674322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Edrf1
|
Ensembl Gene |
ENSMUSG00000039990 |
Gene Name |
erythroid differentiation regulatory factor 1 |
Synonyms |
2700050L05Rik |
MMRRC Submission |
068667-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.945)
|
Stock # |
R8839 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
133239422-133274710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 133255644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 597
(D597G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059166
(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: D597G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000059166 Gene: ENSMUSG00000039990 AA Change: D597G
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: D563G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000115641 Gene: ENSMUSG00000039990 AA Change: D563G
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
|
Meta Mutation Damage Score |
0.0672 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (51/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace3 |
T |
C |
11: 105,889,194 (GRCm39) |
Y475H |
probably damaging |
Het |
Ankfy1 |
T |
C |
11: 72,621,392 (GRCm39) |
I226T |
probably benign |
Het |
Anln |
G |
A |
9: 22,267,468 (GRCm39) |
S825L |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,907,974 (GRCm39) |
Y325H |
probably damaging |
Het |
Arb2a |
A |
T |
13: 78,147,781 (GRCm39) |
H283L |
probably benign |
Het |
B3galt4 |
A |
G |
17: 34,169,867 (GRCm39) |
S124P |
possibly damaging |
Het |
Cabin1 |
T |
C |
10: 75,492,650 (GRCm39) |
I1882V |
probably benign |
Het |
Caprin2 |
A |
T |
6: 148,774,525 (GRCm39) |
S262R |
probably benign |
Het |
Csmd2 |
A |
C |
4: 128,336,681 (GRCm39) |
I1420L |
|
Het |
Cyp2b9 |
T |
G |
7: 25,900,185 (GRCm39) |
V331G |
probably damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,045,896 (GRCm39) |
M433L |
probably benign |
Het |
Emc3 |
G |
A |
6: 113,496,931 (GRCm39) |
R147C |
possibly damaging |
Het |
Fkbp7 |
T |
C |
2: 76,497,581 (GRCm39) |
|
probably benign |
Het |
Flii |
T |
C |
11: 60,609,433 (GRCm39) |
T665A |
possibly damaging |
Het |
Fxr1 |
A |
G |
3: 34,100,831 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
T |
G |
6: 25,669,369 (GRCm39) |
I492L |
probably benign |
Het |
Hmg20b |
A |
C |
10: 81,184,749 (GRCm39) |
W108G |
probably damaging |
Het |
Ighv9-3 |
G |
A |
12: 114,104,385 (GRCm39) |
T93I |
possibly damaging |
Het |
Inpp5a |
T |
C |
7: 138,969,349 (GRCm39) |
V15A |
probably benign |
Het |
Inpp5d |
T |
A |
1: 87,619,433 (GRCm39) |
Y376N |
probably damaging |
Het |
Ints6 |
A |
G |
14: 62,931,122 (GRCm39) |
F854L |
probably benign |
Het |
Ipo7 |
A |
T |
7: 109,641,223 (GRCm39) |
K314N |
probably damaging |
Het |
Ltn1 |
C |
A |
16: 87,215,390 (GRCm39) |
C415F |
probably damaging |
Het |
Mfsd9 |
T |
C |
1: 40,813,554 (GRCm39) |
T254A |
probably benign |
Het |
Musk |
A |
G |
4: 58,286,151 (GRCm39) |
T14A |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 27,005,730 (GRCm39) |
V1438A |
|
Het |
Nnt |
A |
T |
13: 119,494,173 (GRCm39) |
V636D |
unknown |
Het |
Or10ak14 |
A |
G |
4: 118,611,411 (GRCm39) |
L110P |
probably damaging |
Het |
Or11h23 |
A |
T |
14: 50,947,957 (GRCm39) |
T57S |
possibly damaging |
Het |
Or52ae9 |
A |
G |
7: 103,390,021 (GRCm39) |
I142T |
probably benign |
Het |
Ost4 |
T |
C |
5: 31,064,935 (GRCm39) |
|
probably benign |
Het |
Pdzph1 |
T |
C |
17: 59,257,237 (GRCm39) |
T934A |
probably benign |
Het |
Plekhn1 |
T |
A |
4: 156,307,046 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,389,616 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
A |
T |
13: 63,689,038 (GRCm39) |
L413Q |
probably damaging |
Het |
S100pbp |
A |
G |
4: 129,076,000 (GRCm39) |
|
probably null |
Het |
Sec23a |
T |
C |
12: 59,037,781 (GRCm39) |
K361E |
possibly damaging |
Het |
Sema3b |
C |
T |
9: 107,478,552 (GRCm39) |
|
probably benign |
Het |
Serpina3g |
A |
G |
12: 104,204,038 (GRCm39) |
|
probably benign |
Het |
Slc23a2 |
C |
T |
2: 131,943,392 (GRCm39) |
|
silent |
Het |
Smug1 |
T |
C |
15: 103,064,247 (GRCm39) |
R225G |
possibly damaging |
Het |
Srbd1 |
T |
A |
17: 86,295,849 (GRCm39) |
I854L |
probably benign |
Het |
Tbc1d16 |
G |
A |
11: 119,047,474 (GRCm39) |
R417C |
probably damaging |
Het |
Tiam1 |
A |
G |
16: 89,681,827 (GRCm39) |
Y384H |
probably damaging |
Het |
Trappc9 |
T |
A |
15: 72,930,087 (GRCm39) |
K90* |
probably null |
Het |
Tubgcp6 |
A |
T |
15: 88,987,681 (GRCm39) |
H1097Q |
possibly damaging |
Het |
Ugt2b37 |
A |
G |
5: 87,402,415 (GRCm39) |
L72P |
probably damaging |
Het |
Vmn2r20 |
A |
T |
6: 123,373,515 (GRCm39) |
H442Q |
possibly damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,595,489 (GRCm39) |
Y398* |
probably null |
Het |
Zfhx4 |
A |
G |
3: 5,466,915 (GRCm39) |
T2383A |
probably benign |
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 |
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 |
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'- AGCAAGATTTGAAACAGTGCTG -3'
(R):5'- CTACATATGATCTGAAAGACTTGGG -3'
Sequencing Primer
(F):5'- CAGTGCTGAAAACATTTGTATCAG -3'
(R):5'- CTGAAAGACTTGGGAAAATGATTTG -3'
|
Posted On |
2021-07-15 |