Incidental Mutation 'R8553:Edrf1'
| ID |
659971 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
133239422-133274710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133252047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 391
(E391G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051169]
[ENSMUST00000128901]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051169
AA Change: E391G
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: E391G
| 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 |
possibly damaging
Transcript: ENSMUST00000128901
AA Change: E357G
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: E357G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
G |
4: 123,754,327 (GRCm39) |
I80M |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,188,021 (GRCm39) |
D176E |
probably benign |
Het |
| Aga |
G |
A |
8: 53,973,367 (GRCm39) |
R255H |
probably damaging |
Het |
| Anapc1 |
G |
A |
2: 128,461,833 (GRCm39) |
P1757L |
possibly damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,479,278 (GRCm39) |
I1446L |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,468,981 (GRCm39) |
T779A |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,019,540 (GRCm39) |
S778P |
possibly damaging |
Het |
| Cep164 |
A |
T |
9: 45,718,508 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,304 (GRCm39) |
T1595A |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 47,484,724 (GRCm39) |
T3214K |
possibly damaging |
Het |
| Dpy30 |
A |
G |
17: 74,622,913 (GRCm39) |
L23P |
probably damaging |
Het |
| Egflam |
A |
T |
15: 7,237,229 (GRCm39) |
V985E |
probably damaging |
Het |
| Elmo3 |
T |
C |
8: 106,033,810 (GRCm39) |
V201A |
probably benign |
Het |
| Entrep3 |
A |
C |
3: 89,094,153 (GRCm39) |
D322A |
possibly damaging |
Het |
| Epb41l5 |
T |
A |
1: 119,477,671 (GRCm39) |
D700V |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,947,847 (GRCm39) |
S467P |
probably damaging |
Het |
| Eya4 |
G |
A |
10: 22,982,157 (GRCm39) |
H601Y |
probably damaging |
Het |
| Fancm |
A |
C |
12: 65,173,469 (GRCm39) |
N1927T |
possibly damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,912,944 (GRCm39) |
T248A |
probably benign |
Het |
| Gm29106 |
T |
A |
1: 118,128,149 (GRCm39) |
C614S |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,773,328 (GRCm39) |
T249A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,491,661 (GRCm39) |
S3700P |
possibly damaging |
Het |
| Hr |
T |
C |
14: 70,804,965 (GRCm39) |
L950P |
probably damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,651,205 (GRCm39) |
T82S |
possibly damaging |
Het |
| Ifit2 |
C |
A |
19: 34,550,538 (GRCm39) |
A26E |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,244,739 (GRCm39) |
D902G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,131,405 (GRCm39) |
R591Q |
probably damaging |
Het |
| Kcnb1 |
A |
T |
2: 166,946,531 (GRCm39) |
S772R |
possibly damaging |
Het |
| Klhl32 |
T |
A |
4: 24,629,343 (GRCm39) |
I213L |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,656,347 (GRCm39) |
|
probably null |
Het |
| Lpin2 |
T |
A |
17: 71,538,232 (GRCm39) |
S293T |
probably damaging |
Het |
| Magi2 |
T |
C |
5: 20,856,198 (GRCm39) |
F840S |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,439,344 (GRCm39) |
E289K |
possibly damaging |
Het |
| Ndst4 |
A |
G |
3: 125,503,756 (GRCm39) |
S8G |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,343,252 (GRCm39) |
D109G |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,570,687 (GRCm39) |
A611V |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,728,417 (GRCm39) |
I225F |
probably damaging |
Het |
| Peli3 |
A |
G |
19: 4,984,960 (GRCm39) |
F150L |
probably damaging |
Het |
| Qng1 |
G |
A |
13: 58,532,694 (GRCm39) |
T92M |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,519,086 (GRCm39) |
T263A |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,072,539 (GRCm39) |
Y294C |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,508 (GRCm39) |
S605T |
probably benign |
Het |
| Sec23ip |
A |
C |
7: 128,355,777 (GRCm39) |
Q300P |
probably damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,635,925 (GRCm39) |
T98A |
probably damaging |
Het |
| Siah3 |
T |
A |
14: 75,763,067 (GRCm39) |
I106K |
probably benign |
Het |
| Spns2 |
C |
T |
11: 72,348,053 (GRCm39) |
D305N |
probably damaging |
Het |
| Sult1a1 |
G |
T |
7: 126,273,333 (GRCm39) |
Q177K |
probably benign |
Het |
| Tas2r109 |
A |
G |
6: 132,957,171 (GRCm39) |
I253T |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,964,643 (GRCm39) |
D661G |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,831,584 (GRCm39) |
N325S |
probably damaging |
Het |
| Tfcp2l1 |
C |
A |
1: 118,560,082 (GRCm39) |
A58E |
probably damaging |
Het |
| Wdcp |
T |
C |
12: 4,902,024 (GRCm39) |
|
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 |
|
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'- CTCCTTTTGCCATTTGAAACAGG -3'
(R):5'- AGTTTCACAATATCACTGCCGC -3'
Sequencing Primer
(F):5'- CAGTAAGTTGCTGTTGCCT -3'
(R):5'- TGCCGCTTGCTGAAAACAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation