Incidental Mutation 'R9396:Edrf1'
| ID |
710831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Edrf1
|
| Ensembl Gene |
ENSMUSG00000039990 |
| Gene Name |
erythroid differentiation regulatory factor 1 |
| Synonyms |
2700050L05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R9396 (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 133261838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 878
(K878E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051169]
[ENSMUST00000128901]
[ENSMUST00000138370]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051169
AA Change: K878E
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: K878E
| 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: K844E
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: K844E
| 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 |
0.0955 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
T |
A |
17: 85,000,282 (GRCm39) |
F281I |
probably damaging |
Het |
| Acad8 |
A |
G |
9: 26,887,041 (GRCm39) |
M402T |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Apol7a |
T |
C |
15: 77,273,925 (GRCm39) |
E179G |
possibly damaging |
Het |
| Asmt |
A |
G |
X: 169,110,141 (GRCm39) |
T217A |
probably benign |
Het |
| Cadm2 |
T |
C |
16: 66,544,102 (GRCm39) |
Y318C |
probably damaging |
Het |
| Cckar |
G |
A |
5: 53,864,623 (GRCm39) |
T26M |
probably damaging |
Het |
| Cd300ld |
G |
A |
11: 114,878,230 (GRCm39) |
T94I |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,172,903 (GRCm39) |
Y1390H |
possibly damaging |
Het |
| Cdk5rap2 |
C |
T |
4: 70,182,895 (GRCm39) |
S1268N |
probably damaging |
Het |
| Csrnp3 |
C |
T |
2: 65,832,841 (GRCm39) |
R127C |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,174,773 (GRCm39) |
R501* |
probably null |
Het |
| Dusp2 |
C |
T |
2: 127,179,638 (GRCm39) |
R294C |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,476,434 (GRCm39) |
T372A |
possibly damaging |
Het |
| Fcgr1 |
T |
A |
3: 96,194,390 (GRCm39) |
K166* |
probably null |
Het |
| Fstl4 |
C |
A |
11: 52,664,778 (GRCm39) |
P36Q |
probably benign |
Het |
| Gas2l2 |
A |
T |
11: 83,313,659 (GRCm39) |
I551N |
probably benign |
Het |
| Hc |
G |
T |
2: 34,927,615 (GRCm39) |
S333* |
probably null |
Het |
| Ibsp |
A |
G |
5: 104,458,297 (GRCm39) |
Y278C |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Kcnc3 |
T |
C |
7: 44,240,937 (GRCm39) |
S210P |
possibly damaging |
Het |
| Klhl3 |
T |
G |
13: 58,161,662 (GRCm39) |
T531P |
probably damaging |
Het |
| Mapt |
C |
A |
11: 104,189,555 (GRCm39) |
P191Q |
possibly damaging |
Het |
| Myh9 |
T |
C |
15: 77,647,496 (GRCm39) |
T1840A |
probably benign |
Het |
| Myof |
A |
T |
19: 37,923,294 (GRCm39) |
C1320S |
probably damaging |
Het |
| Myom3 |
G |
T |
4: 135,513,199 (GRCm39) |
V626L |
probably benign |
Het |
| Nalf2 |
C |
T |
X: 98,889,097 (GRCm39) |
R321W |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,921 (GRCm39) |
L321P |
probably benign |
Het |
| Nhsl1 |
T |
A |
10: 18,399,749 (GRCm39) |
M291K |
probably damaging |
Het |
| Nubp2 |
C |
T |
17: 25,103,476 (GRCm39) |
V134I |
probably benign |
Het |
| Nuf2 |
T |
C |
1: 169,337,917 (GRCm39) |
I287V |
probably benign |
Het |
| Or1d2 |
T |
A |
11: 74,256,089 (GRCm39) |
M198K |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,421 (GRCm39) |
W149R |
probably damaging |
Het |
| Or4k42 |
A |
G |
2: 111,319,864 (GRCm39) |
L213P |
probably benign |
Het |
| Or51i2 |
A |
G |
7: 103,689,720 (GRCm39) |
N239S |
probably benign |
Het |
| Or55b4 |
A |
C |
7: 102,134,180 (GRCm39) |
V49G |
possibly damaging |
Het |
| Or5k3 |
G |
A |
16: 58,969,302 (GRCm39) |
V30M |
probably damaging |
Het |
| Or8k28 |
A |
T |
2: 86,285,845 (GRCm39) |
C257S |
probably benign |
Het |
| Pals1 |
G |
T |
12: 78,871,521 (GRCm39) |
R367L |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,100,571 (GRCm39) |
E863G |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,640,091 (GRCm39) |
T257M |
possibly damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,377,188 (GRCm39) |
I334V |
probably benign |
Het |
| Rnf180 |
T |
A |
13: 105,318,027 (GRCm39) |
K462* |
probably null |
Het |
| Sin3a |
A |
G |
9: 57,008,445 (GRCm39) |
D455G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,694,463 (GRCm39) |
|
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,227,915 (GRCm39) |
T426A |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,463,358 (GRCm39) |
K70R |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,807,303 (GRCm39) |
V182A |
unknown |
Het |
| Stim1 |
G |
A |
7: 102,064,592 (GRCm39) |
V221I |
possibly damaging |
Het |
| Tbx18 |
T |
C |
9: 87,609,432 (GRCm39) |
D201G |
probably damaging |
Het |
| Tcf25 |
A |
G |
8: 124,127,831 (GRCm39) |
E630G |
probably benign |
Het |
| Tm7sf3 |
T |
C |
6: 146,523,472 (GRCm39) |
N135S |
possibly damaging |
Het |
| Togaram1 |
A |
G |
12: 65,014,429 (GRCm39) |
N560S |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,966,529 (GRCm39) |
|
probably null |
Het |
| Zfp445 |
A |
C |
9: 122,681,581 (GRCm39) |
S787A |
probably benign |
Het |
| Zfp949 |
T |
C |
9: 88,449,260 (GRCm39) |
W22R |
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 |
|
|
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 |
|
|
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'- TGCCCAGGTGTCTTTACTTG -3'
(R):5'- CTGTAATACAAGCCCTCCTCTG -3'
Sequencing Primer
(F):5'- CCCAGTTATGAGTACTGGAAGTCC -3'
(R):5'- GAGAGAACTCCCGTTTGAA -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation