Incidental Mutation 'R1014:Ebf4'
| ID |
95965 |
| 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 |
039118-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.850)
|
| Stock # |
R1014 (G1)
|
| Quality Score |
103 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130137089-130212401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130207388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 484
(S484P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110286]
[ENSMUST00000110287]
[ENSMUST00000110288]
[ENSMUST00000126740]
[ENSMUST00000140169]
|
| AlphaFold |
Q8K4J2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110286
AA Change: S514P
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000105915
Gene: ENSMUSG00000053552
AA Change: S514P
| 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
AA Change: S484P
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105916
Gene: ENSMUSG00000053552
AA Change: S484P
| 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
AA Change: S611P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105917
Gene: ENSMUSG00000053552
AA Change: S611P
| 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
AA Change: S514P
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000133528
Gene: ENSMUSG00000053552
AA Change: S514P
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
|
| 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 |
|---|
| Ago4 |
T |
C |
4: 126,400,578 (GRCm39) |
R712G |
probably damaging |
Het |
| Arg1 |
C |
A |
10: 24,792,758 (GRCm39) |
V159L |
probably benign |
Het |
| Caap1 |
C |
T |
4: 94,437,383 (GRCm39) |
C193Y |
probably benign |
Het |
| Cdh12 |
A |
T |
15: 21,492,706 (GRCm39) |
M242L |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,340,354 (GRCm39) |
|
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,674 (GRCm39) |
T101A |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,638 (GRCm39) |
C407R |
probably damaging |
Het |
| Gm10300 |
A |
G |
4: 131,802,023 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,808,645 (GRCm39) |
I105T |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,306 (GRCm39) |
|
probably null |
Het |
| Musk |
T |
C |
4: 58,354,156 (GRCm39) |
L403P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,054,274 (GRCm39) |
K363R |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,091,334 (GRCm39) |
F202L |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,077,355 (GRCm39) |
T897M |
possibly damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,383 (GRCm39) |
W86R |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,684,928 (GRCm39) |
D465G |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,556,422 (GRCm39) |
L584Q |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,303 (GRCm39) |
L561P |
probably damaging |
Het |
| Pck2 |
A |
G |
14: 55,779,867 (GRCm39) |
S12G |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,353 (GRCm39) |
D726G |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,542,194 (GRCm39) |
A799E |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,739 (GRCm39) |
Y117C |
probably benign |
Het |
| Poldip2 |
T |
A |
11: 78,405,988 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppm1d |
C |
A |
11: 85,227,980 (GRCm39) |
H299N |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,643 (GRCm39) |
Y911C |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rtf1 |
T |
G |
2: 119,550,727 (GRCm39) |
S329A |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,054,882 (GRCm39) |
I841T |
probably benign |
Het |
| Slc2a3 |
T |
C |
6: 122,708,525 (GRCm39) |
I367V |
possibly damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,194,993 (GRCm39) |
T251A |
probably damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,966 (GRCm39) |
N19Y |
probably damaging |
Het |
| Tll2 |
A |
T |
19: 41,092,290 (GRCm39) |
Y516N |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,803,242 (GRCm39) |
G849R |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,583,192 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp318 |
GAA |
GAANAA |
17: 46,723,462 (GRCm39) |
|
probably null |
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 |
|
R0313:Ebf4
|
UTSW |
2 |
130,148,707 (GRCm39) |
splice site |
probably benign |
|
|
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'- TCCCTGAATGTGATGCCCAAAACTC -3'
(R):5'- AGACCCTTCCCTCAGGTTACTGTG -3'
Sequencing Primer
(F):5'- CCAGAGGCTCCCAGTTTAC -3'
(R):5'- CTCAGGTTACTGTGAGGCAGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation