Incidental Mutation 'R4348:Ebf2'
| ID |
328415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ebf2
|
| Ensembl Gene |
ENSMUSG00000022053 |
| Gene Name |
early B cell factor 2 |
| Synonyms |
O/E-3, D14Ggc1e, Mmot1 |
| MMRRC Submission |
041103-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R4348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
67470741-67668367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67476871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 138
(I138T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022637]
[ENSMUST00000176029]
[ENSMUST00000176161]
|
| AlphaFold |
O08792 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022637
AA Change: I138T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022637
Gene: ENSMUSG00000022053
AA Change: I138T
| Domain | Start | End | E-Value | Type |
|---|
|
IPT
|
252 |
336 |
9.09e-8 |
SMART |
|
HLH
|
337 |
386 |
3.39e-1 |
SMART |
|
internal_repeat_1
|
388 |
412 |
2.68e-6 |
PROSPERO |
|
low complexity region
|
454 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
531 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176029
AA Change: I138T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135782
Gene: ENSMUSG00000022053
AA Change: I138T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COE1_DBD
|
16 |
246 |
2.3e-145 |
PFAM |
|
IPT
|
252 |
336 |
9.09e-8 |
SMART |
|
HLH
|
337 |
386 |
3.39e-1 |
SMART |
|
internal_repeat_1
|
388 |
412 |
2.68e-6 |
PROSPERO |
|
low complexity region
|
454 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
531 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176161
AA Change: I138T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135500
Gene: ENSMUSG00000022053
AA Change: I138T
| Domain | Start | End | E-Value | Type |
|---|
|
IPT
|
252 |
336 |
9.09e-8 |
SMART |
|
HLH
|
337 |
386 |
3.39e-1 |
SMART |
|
internal_repeat_1
|
388 |
412 |
2.68e-6 |
PROSPERO |
|
low complexity region
|
454 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
531 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177231
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mutants show decreased viability, impaired olfactory neuron projection, and impaired mating, more so in male mice. Mice homozygous for another knock-out allele exhibit narcolepsy-cataplexy syndrome and decreased orexinergic neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,113,738 (GRCm39) |
F235L |
probably benign |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Cngb3 |
G |
A |
4: 19,396,688 (GRCm39) |
R347Q |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,480,554 (GRCm39) |
C334S |
probably damaging |
Het |
| D7Ertd443e |
ACCTAGGAGGTCCT |
ACCT |
7: 133,950,682 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,536,498 (GRCm39) |
M2138K |
possibly damaging |
Het |
| Ect2l |
A |
G |
10: 18,012,736 (GRCm39) |
S784P |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,587,726 (GRCm39) |
M129V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,749,985 (GRCm39) |
S266T |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,556 (GRCm39) |
V422A |
probably damaging |
Het |
| Garem2 |
G |
A |
5: 30,310,366 (GRCm39) |
R26H |
possibly damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Gpatch11 |
T |
C |
17: 79,148,446 (GRCm39) |
L128P |
probably damaging |
Het |
| Inava |
C |
T |
1: 136,153,946 (GRCm39) |
V180I |
probably damaging |
Het |
| Kcns3 |
T |
C |
12: 11,141,382 (GRCm39) |
N439S |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mbd1 |
G |
T |
18: 74,407,487 (GRCm39) |
R199L |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,146,339 (GRCm39) |
M183K |
probably benign |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,026,073 (GRCm39) |
K464E |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,450,649 (GRCm39) |
T127I |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,060 (GRCm39) |
I509T |
probably damaging |
Het |
| Pcsk7 |
G |
A |
9: 45,830,646 (GRCm39) |
A475T |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Prdm16 |
A |
G |
4: 154,561,124 (GRCm39) |
V136A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,717,592 (GRCm39) |
S1879R |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,818,975 (GRCm39) |
Q388L |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Rnf38 |
A |
T |
4: 44,149,100 (GRCm39) |
N82K |
possibly damaging |
Het |
| Smco3 |
T |
A |
6: 136,808,692 (GRCm39) |
T61S |
possibly damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,138,245 (GRCm39) |
V364A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,595,109 (GRCm39) |
I20347T |
possibly damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,829,466 (GRCm39) |
F477Y |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,730,165 (GRCm39) |
H423R |
probably damaging |
Het |
|
| Other mutations in Ebf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01636:Ebf2
|
APN |
14 |
67,476,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01808:Ebf2
|
APN |
14 |
67,651,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02087:Ebf2
|
APN |
14 |
67,665,545 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02094:Ebf2
|
APN |
14 |
67,472,689 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02270:Ebf2
|
APN |
14 |
67,476,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03222:Ebf2
|
APN |
14 |
67,649,441 (GRCm39) |
splice site |
probably null |
|
|
IGL03390:Ebf2
|
APN |
14 |
67,661,558 (GRCm39) |
missense |
probably benign |
0.19 |
|
G1Funyon:Ebf2
|
UTSW |
14 |
67,476,431 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0044:Ebf2
|
UTSW |
14 |
67,548,417 (GRCm39) |
intron |
probably benign |
|
|
R0062:Ebf2
|
UTSW |
14 |
67,475,989 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Ebf2
|
UTSW |
14 |
67,475,989 (GRCm39) |
splice site |
probably benign |
|
|
R0069:Ebf2
|
UTSW |
14 |
67,647,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0069:Ebf2
|
UTSW |
14 |
67,647,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0505:Ebf2
|
UTSW |
14 |
67,609,185 (GRCm39) |
nonsense |
probably null |
|
|
R2103:Ebf2
|
UTSW |
14 |
67,625,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2438:Ebf2
|
UTSW |
14 |
67,625,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3789:Ebf2
|
UTSW |
14 |
67,476,942 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4153:Ebf2
|
UTSW |
14 |
67,472,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Ebf2
|
UTSW |
14 |
67,647,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4991:Ebf2
|
UTSW |
14 |
67,627,106 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5164:Ebf2
|
UTSW |
14 |
67,627,970 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5222:Ebf2
|
UTSW |
14 |
67,551,043 (GRCm39) |
intron |
probably benign |
|
|
R5227:Ebf2
|
UTSW |
14 |
67,484,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5459:Ebf2
|
UTSW |
14 |
67,472,650 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5622:Ebf2
|
UTSW |
14 |
67,628,007 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6035:Ebf2
|
UTSW |
14 |
67,476,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Ebf2
|
UTSW |
14 |
67,476,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Ebf2
|
UTSW |
14 |
67,661,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6893:Ebf2
|
UTSW |
14 |
67,475,008 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7078:Ebf2
|
UTSW |
14 |
67,661,407 (GRCm39) |
missense |
probably benign |
|
|
R7394:Ebf2
|
UTSW |
14 |
67,474,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7449:Ebf2
|
UTSW |
14 |
67,647,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Ebf2
|
UTSW |
14 |
67,628,016 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7724:Ebf2
|
UTSW |
14 |
67,661,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8143:Ebf2
|
UTSW |
14 |
67,649,386 (GRCm39) |
nonsense |
probably null |
|
|
R8153:Ebf2
|
UTSW |
14 |
67,627,914 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8301:Ebf2
|
UTSW |
14 |
67,476,431 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8963:Ebf2
|
UTSW |
14 |
67,665,554 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8978:Ebf2
|
UTSW |
14 |
67,661,548 (GRCm39) |
missense |
probably benign |
|
|
R9031:Ebf2
|
UTSW |
14 |
67,472,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9409:Ebf2
|
UTSW |
14 |
67,472,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTGAGAACTAAGGGCAAAC -3'
(R):5'- AACTCTGGGAAGTCAGGTGG -3'
Sequencing Primer
(F):5'- GCTGAGAACTAAGGGCAAACTTCTTC -3'
(R):5'- TTTCCCAGTCCTAGAAAACTAGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation