Incidental Mutation 'R0313:Ebf4'
| ID |
25317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ebf4
|
| Ensembl Gene |
ENSMUSG00000053552 |
| Gene Name |
early B cell factor 4 |
| Synonyms |
O/E-4, Olf-1/EBF-like 4 |
| MMRRC Submission |
038523-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
R0313 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130137089-130212401 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 130148707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110286]
[ENSMUST00000110287]
[ENSMUST00000110288]
[ENSMUST00000126740]
[ENSMUST00000140169]
|
| AlphaFold |
Q8K4J2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110286
|
| SMART Domains |
Protein: ENSMUSP00000105915
Gene: ENSMUSG00000053552
| Domain | Start | End | E-Value | Type |
|---|
|
IPT
|
255 |
339 |
1.09e-5 |
SMART |
|
HLH
|
340 |
389 |
7.22e-1 |
SMART |
|
internal_repeat_1
|
391 |
406 |
1.45e-5 |
PROSPERO |
|
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
534 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110287
|
| SMART Domains |
Protein: ENSMUSP00000105916
Gene: ENSMUSG00000053552
| Domain | Start | End | E-Value | Type |
|---|
|
IPT
|
255 |
339 |
1.09e-5 |
SMART |
|
HLH
|
340 |
389 |
7.22e-1 |
SMART |
|
internal_repeat_1
|
391 |
406 |
1.25e-5 |
PROSPERO |
|
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
480 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
504 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110288
|
| SMART Domains |
Protein: ENSMUSP00000105917
Gene: ENSMUSG00000053552
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
101 |
N/A |
INTRINSIC |
|
Pfam:COE1_DBD
|
114 |
345 |
3.6e-148 |
PFAM |
|
IPT
|
352 |
436 |
1.09e-5 |
SMART |
|
HLH
|
437 |
486 |
7.22e-1 |
SMART |
|
internal_repeat_1
|
488 |
503 |
3.82e-7 |
PROSPERO |
|
low complexity region
|
504 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
561 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126740
|
| SMART Domains |
Protein: ENSMUSP00000133528
Gene: ENSMUSG00000053552
| Domain | Start | End | E-Value | Type |
|---|
|
IPT
|
255 |
339 |
1.09e-5 |
SMART |
|
HLH
|
340 |
389 |
7.22e-1 |
SMART |
|
internal_repeat_1
|
391 |
406 |
1.27e-5 |
PROSPERO |
|
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
534 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134728
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140169
|
| SMART Domains |
Protein: ENSMUSP00000134520
Gene: ENSMUSG00000053552
| Domain | Start | End | E-Value | Type |
|---|
|
IPT
|
255 |
339 |
1.09e-5 |
SMART |
|
HLH
|
340 |
389 |
7.22e-1 |
SMART |
|
internal_repeat_1
|
391 |
406 |
3.44e-5 |
PROSPERO |
|
low complexity region
|
407 |
426 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
487 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.9%
- 20x: 88.5%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
A |
G |
6: 58,649,082 (GRCm39) |
E309G |
probably benign |
Het |
| Ankmy1 |
C |
T |
1: 92,813,943 (GRCm39) |
G412D |
probably damaging |
Het |
| Cc2d1a |
G |
A |
8: 84,863,598 (GRCm39) |
T542I |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,580,967 (GRCm39) |
I94V |
probably benign |
Het |
| Cobll1 |
G |
A |
2: 64,926,088 (GRCm39) |
R1195* |
probably null |
Het |
| Dnah7b |
A |
G |
1: 46,246,803 (GRCm39) |
T1660A |
probably damaging |
Het |
| Dzip3 |
G |
T |
16: 48,757,424 (GRCm39) |
Q870K |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,811,892 (GRCm39) |
I1411T |
probably benign |
Het |
| Esyt2 |
T |
C |
12: 116,311,428 (GRCm39) |
L439P |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Haspin |
A |
G |
11: 73,027,124 (GRCm39) |
V655A |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,549,928 (GRCm39) |
E1351G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 26,869,394 (GRCm39) |
|
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,436,873 (GRCm39) |
E73G |
probably damaging |
Het |
| Ltv1 |
C |
T |
10: 13,058,604 (GRCm39) |
|
probably null |
Het |
| Mcmdc2 |
A |
G |
1: 10,002,366 (GRCm39) |
Y529C |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 70,179,303 (GRCm39) |
Y1172* |
probably null |
Het |
| Ncf1 |
T |
C |
5: 134,258,421 (GRCm39) |
M1V |
probably null |
Het |
| Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
| Or6c8b |
A |
G |
10: 128,882,695 (GRCm39) |
V79A |
possibly damaging |
Het |
| Or8c10 |
T |
C |
9: 38,279,600 (GRCm39) |
S243P |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,726,339 (GRCm39) |
H80L |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,728,887 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,906 (GRCm39) |
Y1710C |
unknown |
Het |
| Ppp1r37 |
G |
A |
7: 19,267,923 (GRCm39) |
T324I |
probably damaging |
Het |
| Prmt1 |
T |
C |
7: 44,628,172 (GRCm39) |
D176G |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,363,637 (GRCm39) |
D501G |
probably damaging |
Het |
| Ska2 |
A |
G |
11: 87,008,640 (GRCm39) |
I89M |
possibly damaging |
Het |
| Slc39a7 |
G |
A |
17: 34,248,518 (GRCm39) |
A375V |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,871,898 (GRCm39) |
I374N |
probably damaging |
Het |
| Stox2 |
C |
T |
8: 47,645,169 (GRCm39) |
G828R |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Uqcrc1 |
C |
A |
9: 108,777,642 (GRCm39) |
R114S |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,071 (GRCm39) |
L988* |
probably null |
Het |
| Vmn2r5 |
T |
A |
3: 64,411,248 (GRCm39) |
H440L |
probably benign |
Het |
| Wdr12 |
A |
T |
1: 60,121,738 (GRCm39) |
I271N |
possibly damaging |
Het |
| Xylt2 |
C |
T |
11: 94,560,720 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ebf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02645:Ebf4
|
APN |
2 |
130,203,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1014:Ebf4
|
UTSW |
2 |
130,207,388 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1542:Ebf4
|
UTSW |
2 |
130,207,418 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1711:Ebf4
|
UTSW |
2 |
130,200,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Ebf4
|
UTSW |
2 |
130,148,482 (GRCm39) |
nonsense |
probably null |
|
|
R3078:Ebf4
|
UTSW |
2 |
130,148,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4821:Ebf4
|
UTSW |
2 |
130,148,965 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5974:Ebf4
|
UTSW |
2 |
130,207,484 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6084:Ebf4
|
UTSW |
2 |
130,151,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Ebf4
|
UTSW |
2 |
130,151,651 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9377:Ebf4
|
UTSW |
2 |
130,148,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9437:Ebf4
|
UTSW |
2 |
130,202,005 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0028:Ebf4
|
UTSW |
2 |
130,203,908 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCACTCGAACACTGGGGAAGATG -3'
(R):5'- ATGGAAAGGGGCTAAGGTTGCTTAC -3'
Sequencing Primer
(F):5'- ATGAGTGGATAAATGGTAGATGTGTG -3'
(R):5'- GGGCTAAGGTTGCTTACTCAAATC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation