Incidental Mutation 'R4538:Ebf1'
| ID |
333418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ebf1
|
| Ensembl Gene |
ENSMUSG00000057098 |
| Gene Name |
early B cell factor 1 |
| Synonyms |
Olf1, O/E-1, Olf-1 |
| MMRRC Submission |
041775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R4538 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
44508144-44898918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44798822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 289
(D289E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081265]
[ENSMUST00000101326]
[ENSMUST00000109268]
|
| AlphaFold |
Q07802 |
| PDB Structure |
DNA binding domain of Early B-cell Factor 1 (Ebf1) bound to DNA (crystal form II) [X-RAY DIFFRACTION]
DNA binding domain of Early B-cell Factor 1 (Ebf1) bound to DNA (Crystal form I) [X-RAY DIFFRACTION]
Early B-cell Factor 1 (Ebf1) bound to DNA [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081265
AA Change: D289E
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: D289E
| Domain | Start | End | E-Value | Type |
|---|
|
IPT
|
261 |
345 |
7.38e-8 |
SMART |
|
HLH
|
346 |
395 |
5.4e-2 |
SMART |
|
low complexity region
|
526 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
575 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101326
AA Change: D290E
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: D290E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COE1_DBD
|
17 |
247 |
8e-150 |
PFAM |
|
IPT
|
262 |
346 |
7.38e-8 |
SMART |
|
HLH
|
347 |
396 |
5.4e-2 |
SMART |
|
low complexity region
|
527 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109268
AA Change: D282E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: D282E
| Domain | Start | End | E-Value | Type |
|---|
|
IPT
|
254 |
338 |
7.38e-8 |
SMART |
|
HLH
|
339 |
388 |
5.4e-2 |
SMART |
|
low complexity region
|
519 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140822
|
| Meta Mutation Damage Score |
0.1020 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a reduced striatum due to excess apoptosis, altered facial branchiomotor neurone migration, and a block in B cell differentiation. Mutants are smaller than normal and many die prior to 4 weeks of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110018I06Rik |
G |
A |
12: 107,455,096 (GRCm39) |
V61M |
unknown |
Het |
| Abcc9 |
A |
G |
6: 142,560,138 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
T |
1: 165,340,696 (GRCm39) |
M234L |
probably benign |
Het |
| B4galt3 |
T |
C |
1: 171,100,280 (GRCm39) |
F150S |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Chd4 |
A |
T |
6: 125,097,649 (GRCm39) |
D1377V |
probably damaging |
Het |
| Cope |
T |
A |
8: 70,759,157 (GRCm39) |
I16N |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,681,825 (GRCm39) |
N1140K |
probably benign |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,745 (GRCm39) |
I156N |
possibly damaging |
Het |
| Depdc5 |
T |
C |
5: 33,141,290 (GRCm39) |
Y1397H |
probably damaging |
Het |
| Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
| Egflam |
T |
C |
15: 7,281,918 (GRCm39) |
Y406C |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,022,756 (GRCm39) |
T949A |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,447,756 (GRCm39) |
V316A |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 93,004,769 (GRCm39) |
V142M |
probably damaging |
Het |
| Kng2 |
C |
A |
16: 22,806,813 (GRCm39) |
R462L |
probably benign |
Het |
| Lrrn1 |
T |
A |
6: 107,545,598 (GRCm39) |
N465K |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,722,334 (GRCm39) |
L2372Q |
probably damaging |
Het |
| Men1 |
T |
C |
19: 6,386,784 (GRCm39) |
F159L |
possibly damaging |
Het |
| Mul1 |
T |
C |
4: 138,165,706 (GRCm39) |
|
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,381 (GRCm39) |
C96* |
probably null |
Het |
| Pramel6 |
T |
G |
2: 87,338,903 (GRCm39) |
H34Q |
probably benign |
Het |
| Ripk4 |
A |
T |
16: 97,544,352 (GRCm39) |
L702* |
probably null |
Het |
| Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,309,851 (GRCm39) |
V513A |
possibly damaging |
Het |
| Strada |
A |
C |
11: 106,058,651 (GRCm39) |
M245R |
probably damaging |
Het |
| Sycp1 |
A |
T |
3: 102,748,278 (GRCm39) |
I838K |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trbv17 |
A |
C |
6: 41,140,286 (GRCm39) |
N47T |
probably benign |
Het |
| Washc3 |
T |
A |
10: 88,051,871 (GRCm39) |
S87T |
probably benign |
Het |
|
| Other mutations in Ebf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01150:Ebf1
|
APN |
11 |
44,759,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02228:Ebf1
|
APN |
11 |
44,863,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02430:Ebf1
|
APN |
11 |
44,815,403 (GRCm39) |
critical splice donor site |
probably null |
|
|
Befuddled
|
UTSW |
11 |
44,523,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Catastrophic
|
UTSW |
11 |
44,774,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Crabapple
|
UTSW |
11 |
44,774,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Crater_lake
|
UTSW |
11 |
44,863,735 (GRCm39) |
nonsense |
probably null |
|
|
ebby
|
UTSW |
11 |
44,774,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Oregano
|
UTSW |
11 |
44,759,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Oregano2
|
UTSW |
11 |
44,881,331 (GRCm39) |
splice site |
probably null |
|
|
Realtor
|
UTSW |
11 |
44,511,374 (GRCm39) |
missense |
probably benign |
0.05 |
|
Vie
|
UTSW |
11 |
44,863,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Ebf1
|
UTSW |
11 |
44,882,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0102:Ebf1
|
UTSW |
11 |
44,882,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0141:Ebf1
|
UTSW |
11 |
44,798,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Ebf1
|
UTSW |
11 |
44,886,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Ebf1
|
UTSW |
11 |
44,759,915 (GRCm39) |
splice site |
probably benign |
|
|
R0268:Ebf1
|
UTSW |
11 |
44,534,240 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0414:Ebf1
|
UTSW |
11 |
44,815,297 (GRCm39) |
nonsense |
probably null |
|
|
R0648:Ebf1
|
UTSW |
11 |
44,882,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0765:Ebf1
|
UTSW |
11 |
44,759,987 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1055:Ebf1
|
UTSW |
11 |
44,523,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1432:Ebf1
|
UTSW |
11 |
44,895,533 (GRCm39) |
splice site |
probably benign |
|
|
R1713:Ebf1
|
UTSW |
11 |
44,815,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1749:Ebf1
|
UTSW |
11 |
44,798,835 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1989:Ebf1
|
UTSW |
11 |
44,512,793 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2405:Ebf1
|
UTSW |
11 |
44,882,349 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3110:Ebf1
|
UTSW |
11 |
44,534,225 (GRCm39) |
splice site |
probably benign |
|
|
R4666:Ebf1
|
UTSW |
11 |
44,882,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4855:Ebf1
|
UTSW |
11 |
44,863,735 (GRCm39) |
nonsense |
probably null |
|
|
R4904:Ebf1
|
UTSW |
11 |
44,759,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Ebf1
|
UTSW |
11 |
44,882,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5569:Ebf1
|
UTSW |
11 |
44,883,228 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5849:Ebf1
|
UTSW |
11 |
44,881,331 (GRCm39) |
splice site |
probably null |
|
|
R5940:Ebf1
|
UTSW |
11 |
44,512,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5989:Ebf1
|
UTSW |
11 |
44,886,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Ebf1
|
UTSW |
11 |
44,774,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6512:Ebf1
|
UTSW |
11 |
44,883,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Ebf1
|
UTSW |
11 |
44,774,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:Ebf1
|
UTSW |
11 |
44,512,795 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7042:Ebf1
|
UTSW |
11 |
44,882,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8065:Ebf1
|
UTSW |
11 |
44,511,374 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8067:Ebf1
|
UTSW |
11 |
44,511,374 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8125:Ebf1
|
UTSW |
11 |
44,863,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8413:Ebf1
|
UTSW |
11 |
44,534,274 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8863:Ebf1
|
UTSW |
11 |
44,774,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Ebf1
|
UTSW |
11 |
44,895,548 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9178:Ebf1
|
UTSW |
11 |
44,883,276 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9511:Ebf1
|
UTSW |
11 |
44,815,393 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9603:Ebf1
|
UTSW |
11 |
44,509,006 (GRCm39) |
start codon destroyed |
probably null |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAGATCTGGAGGGACTTTC -3'
(R):5'- CCAGTTTCCAAAGTTCTGTGGAC -3'
Sequencing Primer
(F):5'- AGGGACTTTCTGTTAGTGAAAAGATG -3'
(R):5'- TCCAAAGTTCTGTGGACTAGAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation