Incidental Mutation 'R8133:Ebf3'
| ID |
632118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ebf3
|
| Ensembl Gene |
ENSMUSG00000010476 |
| Gene Name |
early B cell factor 3 |
| Synonyms |
3110018A08Rik, Olf-1/EBF-like 2, O/E-2 |
| MMRRC Submission |
067561-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8133 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
136795402-136916174 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136914872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 102
(E102G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033378]
[ENSMUST00000106118]
[ENSMUST00000168203]
[ENSMUST00000169486]
[ENSMUST00000210774]
|
| AlphaFold |
O08791 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033378
AA Change: E102G
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033378
Gene: ENSMUSG00000010476
AA Change: E102G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
IPT
|
253 |
337 |
2.09e-7 |
SMART |
|
HLH
|
338 |
387 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106118
AA Change: E102G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101724
Gene: ENSMUSG00000010476
AA Change: E102G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COE1_DBD
|
17 |
247 |
2.6e-151 |
PFAM |
|
IPT
|
262 |
346 |
2.09e-7 |
SMART |
|
HLH
|
347 |
396 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168203
AA Change: E102G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130334
Gene: ENSMUSG00000010476
AA Change: E102G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
IPT
|
253 |
337 |
2.09e-7 |
SMART |
|
HLH
|
338 |
387 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169486
AA Change: E102G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132563
Gene: ENSMUSG00000010476
AA Change: E102G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
IPT
|
253 |
337 |
2.09e-7 |
SMART |
|
HLH
|
338 |
387 |
1.43e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210774
AA Change: E102G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.3%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mutant mice die perinatally and exhibit impaired olfactory neuron projection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
T |
11: 110,018,289 (GRCm39) |
S1110R |
possibly damaging |
Het |
| Adam15 |
C |
T |
3: 89,254,513 (GRCm39) |
R123Q |
probably benign |
Het |
| AI987944 |
A |
G |
7: 41,024,489 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
T |
C |
13: 97,003,003 (GRCm39) |
|
probably null |
Het |
| Arfgef3 |
C |
A |
10: 18,486,951 (GRCm39) |
|
probably null |
Het |
| Atp6v0c |
C |
T |
17: 24,383,553 (GRCm39) |
S98N |
possibly damaging |
Het |
| Camsap1 |
T |
C |
2: 25,824,309 (GRCm39) |
N1417S |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,438,045 (GRCm39) |
S96P |
probably damaging |
Het |
| Cd200l1 |
T |
C |
16: 45,264,304 (GRCm39) |
T85A |
probably benign |
Het |
| Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
| Cib4 |
T |
C |
5: 30,691,562 (GRCm39) |
D53G |
probably benign |
Het |
| Cntn6 |
T |
A |
6: 104,705,298 (GRCm39) |
S244T |
probably benign |
Het |
| Cubn |
G |
T |
2: 13,393,659 (GRCm39) |
D1447E |
probably damaging |
Het |
| Elmo1 |
T |
A |
13: 20,557,256 (GRCm39) |
V399E |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,082 (GRCm39) |
E1423G |
possibly damaging |
Het |
| Glis3 |
A |
G |
19: 28,327,406 (GRCm39) |
S669P |
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,660,710 (GRCm39) |
T742A |
possibly damaging |
Het |
| Igdcc4 |
C |
A |
9: 65,039,023 (GRCm39) |
T890N |
possibly damaging |
Het |
| Jcad |
C |
T |
18: 4,649,384 (GRCm39) |
T85I |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,762,823 (GRCm39) |
K316E |
probably damaging |
Het |
| Lrig1 |
T |
C |
6: 94,588,610 (GRCm39) |
D513G |
possibly damaging |
Het |
| Lrrn4 |
T |
C |
2: 132,719,934 (GRCm39) |
N289D |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,061,487 (GRCm39) |
M829V |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,741,458 (GRCm39) |
R495H |
probably benign |
Het |
| Nqo2 |
T |
C |
13: 34,169,461 (GRCm39) |
Y228H |
probably benign |
Het |
| Nrg2 |
T |
A |
18: 36,165,430 (GRCm39) |
E394V |
probably benign |
Het |
| Oas1e |
T |
C |
5: 120,926,060 (GRCm39) |
N336S |
probably benign |
Het |
| Obi1 |
G |
T |
14: 104,716,681 (GRCm39) |
S564* |
probably null |
Het |
| Or51i2 |
G |
T |
7: 103,689,122 (GRCm39) |
G40W |
probably benign |
Het |
| Or52b4i |
T |
A |
7: 102,192,065 (GRCm39) |
H307Q |
probably benign |
Het |
| Or5b95 |
T |
G |
19: 12,657,844 (GRCm39) |
V124G |
probably damaging |
Het |
| Pax4 |
T |
C |
6: 28,442,513 (GRCm39) |
D305G |
probably benign |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,185 (GRCm39) |
N48K |
probably damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,663 (GRCm39) |
E730* |
probably null |
Het |
| Pde4a |
A |
T |
9: 21,102,673 (GRCm39) |
D119V |
possibly damaging |
Het |
| Pgam1 |
T |
C |
19: 41,904,149 (GRCm39) |
V82A |
probably benign |
Het |
| Phf11a |
C |
T |
14: 59,521,773 (GRCm39) |
G133S |
probably damaging |
Het |
| Phlpp1 |
TGCGCGCGCGC |
TGCGCGCGC |
1: 106,100,522 (GRCm39) |
|
probably null |
Het |
| Piwil1 |
T |
C |
5: 128,826,914 (GRCm39) |
V558A |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,202,319 (GRCm39) |
V59A |
unknown |
Het |
| Psd4 |
T |
A |
2: 24,286,701 (GRCm39) |
S353T |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,618,584 (GRCm39) |
L3877H |
probably damaging |
Het |
| S100a2 |
T |
C |
3: 90,498,616 (GRCm39) |
V39A |
possibly damaging |
Het |
| Tanc2 |
T |
A |
11: 105,814,048 (GRCm39) |
S1831T |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,465,554 (GRCm39) |
K1904R |
probably damaging |
Het |
| Zfp141 |
A |
G |
7: 42,124,481 (GRCm39) |
C664R |
probably damaging |
Het |
|
| Other mutations in Ebf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Ebf3
|
APN |
7 |
136,827,625 (GRCm39) |
splice site |
probably benign |
|
|
IGL01938:Ebf3
|
APN |
7 |
136,911,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02076:Ebf3
|
APN |
7 |
136,833,030 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02260:Ebf3
|
APN |
7 |
136,807,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02303:Ebf3
|
APN |
7 |
136,911,094 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02828:Ebf3
|
APN |
7 |
136,909,247 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03211:Ebf3
|
APN |
7 |
136,833,033 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0885:Ebf3
|
UTSW |
7 |
136,827,613 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0962:Ebf3
|
UTSW |
7 |
136,826,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1166:Ebf3
|
UTSW |
7 |
136,914,896 (GRCm39) |
splice site |
probably benign |
|
|
R1255:Ebf3
|
UTSW |
7 |
136,826,941 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1804:Ebf3
|
UTSW |
7 |
136,802,250 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4298:Ebf3
|
UTSW |
7 |
136,826,958 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4393:Ebf3
|
UTSW |
7 |
136,826,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5061:Ebf3
|
UTSW |
7 |
136,915,288 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5880:Ebf3
|
UTSW |
7 |
136,800,367 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6024:Ebf3
|
UTSW |
7 |
136,802,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6109:Ebf3
|
UTSW |
7 |
136,807,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6634:Ebf3
|
UTSW |
7 |
136,802,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6958:Ebf3
|
UTSW |
7 |
136,800,994 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6997:Ebf3
|
UTSW |
7 |
136,826,994 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7578:Ebf3
|
UTSW |
7 |
136,915,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Ebf3
|
UTSW |
7 |
136,911,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8185:Ebf3
|
UTSW |
7 |
136,827,607 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8356:Ebf3
|
UTSW |
7 |
136,800,916 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8456:Ebf3
|
UTSW |
7 |
136,800,916 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8520:Ebf3
|
UTSW |
7 |
136,802,853 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9025:Ebf3
|
UTSW |
7 |
136,914,098 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9086:Ebf3
|
UTSW |
7 |
136,800,994 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9679:Ebf3
|
UTSW |
7 |
136,832,964 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
RF022:Ebf3
|
UTSW |
7 |
136,915,671 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGTGAAGTGCCATCGACTTATC -3'
(R):5'- CTTGCGGCAGGAAAAGTGAC -3'
Sequencing Primer
(F):5'- CCTTCTATGCCATGAGAAGATTTCG -3'
(R):5'- GTGACATCACCGCGTAGCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation