Incidental Mutation 'R9437:Ebf4'
| ID |
713316 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
R9437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130137089-130212401 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130202005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 325
(S325T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110286]
[ENSMUST00000110287]
[ENSMUST00000110288]
[ENSMUST00000126740]
[ENSMUST00000140169]
|
| AlphaFold |
Q8K4J2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110286
AA Change: S325T
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105915
Gene: ENSMUSG00000053552
AA Change: S325T
| 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 |
possibly damaging
Transcript: ENSMUST00000110287
AA Change: S325T
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105916
Gene: ENSMUSG00000053552
AA Change: S325T
| 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: S422T
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105917
Gene: ENSMUSG00000053552
AA Change: S422T
| 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 |
possibly damaging
Transcript: ENSMUST00000126740
AA Change: S325T
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133528
Gene: ENSMUSG00000053552
AA Change: S325T
| 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 |
probably benign
Transcript: ENSMUST00000140169
AA Change: S325T
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134520
Gene: ENSMUSG00000053552
AA Change: S325T
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
T |
C |
17: 32,553,608 (GRCm39) |
S371G |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,162,158 (GRCm39) |
S2255P |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,369,584 (GRCm39) |
Q109* |
probably null |
Het |
| Copa |
G |
A |
1: 171,931,712 (GRCm39) |
R321H |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,372,199 (GRCm39) |
D415E |
possibly damaging |
Het |
| Dcun1d2 |
T |
C |
8: 13,331,004 (GRCm39) |
D42G |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,097,562 (GRCm39) |
E137G |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,813,872 (GRCm39) |
S1304P |
probably benign |
Het |
| Fam24b |
A |
T |
7: 130,927,893 (GRCm39) |
C99S |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,945,417 (GRCm39) |
T1437A |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,627 (GRCm39) |
T287A |
probably benign |
Het |
| Fscb |
G |
T |
12: 64,519,708 (GRCm39) |
A586E |
unknown |
Het |
| Gm2244 |
A |
T |
14: 19,599,038 (GRCm39) |
I86N |
probably damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,854,627 (GRCm39) |
R55* |
probably null |
Het |
| Kcnk5 |
A |
C |
14: 20,192,468 (GRCm39) |
I231S |
probably damaging |
Het |
| Krt10 |
A |
G |
11: 99,276,390 (GRCm39) |
M87T |
probably benign |
Het |
| Ly6c2 |
C |
G |
15: 74,983,535 (GRCm39) |
|
probably benign |
Het |
| Map4 |
C |
A |
9: 109,864,155 (GRCm39) |
T460K |
possibly damaging |
Het |
| Mok |
A |
G |
12: 110,774,659 (GRCm39) |
C388R |
probably benign |
Het |
| Ms4a3 |
T |
C |
19: 11,607,065 (GRCm39) |
D200G |
possibly damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,153,655 (GRCm39) |
Y687H |
probably damaging |
Het |
| Nrp1 |
A |
G |
8: 129,187,108 (GRCm39) |
T385A |
probably benign |
Het |
| Or2w25 |
T |
C |
11: 59,504,195 (GRCm39) |
M135T |
possibly damaging |
Het |
| Or56a41 |
A |
T |
7: 104,739,963 (GRCm39) |
Y294* |
probably null |
Het |
| Osbp2 |
A |
G |
11: 3,664,581 (GRCm39) |
S131P |
probably damaging |
Het |
| Pcdhga3 |
G |
A |
18: 37,808,144 (GRCm39) |
R199H |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigx |
G |
T |
16: 31,918,310 (GRCm39) |
D26E |
probably benign |
Het |
| Pkn3 |
T |
C |
2: 29,973,267 (GRCm39) |
I363T |
possibly damaging |
Het |
| Psg16 |
T |
A |
7: 16,827,715 (GRCm39) |
Y133N |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,246,925 (GRCm39) |
I407T |
probably damaging |
Het |
| Rc3h2 |
G |
A |
2: 37,272,841 (GRCm39) |
A745V |
possibly damaging |
Het |
| Srgap1 |
T |
C |
10: 121,636,777 (GRCm39) |
E703G |
probably benign |
Het |
| Susd4 |
T |
C |
1: 182,681,697 (GRCm39) |
|
probably null |
Het |
| Tbpl1 |
T |
C |
10: 22,587,838 (GRCm39) |
N37S |
probably damaging |
Het |
| Tex264 |
T |
C |
9: 106,559,096 (GRCm39) |
I77V |
possibly damaging |
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 |
|
|
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 |
|
X0028:Ebf4
|
UTSW |
2 |
130,203,908 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCTTCGACGGGTTGCAG -3'
(R):5'- AGGAAAGATGACCCCTGGTG -3'
Sequencing Primer
(F):5'- TTGGCAACGTGCTCCTG -3'
(R):5'- TGACCCCTGGTGAGAAAACTTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation