Incidental Mutation 'R8065:Ebf1'
| ID |
619954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ebf1
|
| Ensembl Gene |
ENSMUSG00000057098 |
| Gene Name |
early B cell factor 1 |
| Synonyms |
Olf1, O/E-1, Olf-1 |
| MMRRC Submission |
067501-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.850)
|
| Stock # |
R8065 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
44617317-45008091 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44620547 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 90
(V90M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081265]
[ENSMUST00000101326]
[ENSMUST00000109268]
|
| AlphaFold |
Q07802 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081265
AA Change: V90M
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: V90M
| Domain | Start | End | E-Value | Type |
|---|
|
IPT
|
261 |
345 |
7.38e-8 |
SMART |
|
HLH
|
346 |
395 |
5.4e-2 |
SMART |
|
low complexity region
|
526 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
575 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101326
AA Change: V90M
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: V90M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COE1_DBD
|
17 |
247 |
8e-150 |
PFAM |
|
IPT
|
262 |
346 |
7.38e-8 |
SMART |
|
HLH
|
347 |
396 |
5.4e-2 |
SMART |
|
low complexity region
|
527 |
545 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109268
AA Change: V90M
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: V90M
| Domain | Start | End | E-Value | Type |
|---|
|
IPT
|
254 |
338 |
7.38e-8 |
SMART |
|
HLH
|
339 |
388 |
5.4e-2 |
SMART |
|
low complexity region
|
519 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0946 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a reduced striatum due to excess apoptosis, altered facial branchiomotor neurone migration, and a block in B cell differentiation. Mutants are smaller than normal and many die prior to 4 weeks of age. [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 |
|---|
| Cap2 |
T |
C |
13: 46,637,861 (GRCm38) |
V280A |
probably damaging |
Het |
| Cbx7 |
A |
T |
15: 79,933,898 (GRCm38) |
V1D |
unknown |
Het |
| Chodl |
A |
T |
16: 78,946,713 (GRCm38) |
L229F |
probably damaging |
Het |
| Depdc5 |
C |
A |
5: 32,895,908 (GRCm38) |
N197K |
possibly damaging |
Het |
| Diaph3 |
A |
T |
14: 87,037,495 (GRCm38) |
L175Q |
probably damaging |
Het |
| Dlat |
A |
T |
9: 50,657,849 (GRCm38) |
M218K |
possibly damaging |
Het |
| Dnaic1 |
T |
A |
4: 41,614,258 (GRCm38) |
D311E |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,352,660 (GRCm38) |
S646P |
probably benign |
Het |
| Efhd1 |
C |
T |
1: 87,264,591 (GRCm38) |
P48S |
probably benign |
Het |
| Fbxl16 |
G |
A |
17: 25,817,983 (GRCm38) |
V313I |
probably damaging |
Het |
| Flrt2 |
A |
G |
12: 95,780,774 (GRCm38) |
T629A |
probably benign |
Het |
| Gpr87 |
T |
A |
3: 59,179,887 (GRCm38) |
I66F |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,721,672 (GRCm38) |
S206F |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,170,752 (GRCm38) |
I431F |
possibly damaging |
Het |
| Iba57 |
T |
C |
11: 59,163,260 (GRCm38) |
|
probably benign |
Het |
| Ibtk |
A |
C |
9: 85,720,863 (GRCm38) |
S696R |
probably benign |
Het |
| Igkv11-125 |
C |
A |
6: 67,913,830 (GRCm38) |
T44N |
probably benign |
Het |
| Itih2 |
T |
A |
2: 10,123,483 (GRCm38) |
I136F |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,110,862 (GRCm38) |
D1543E |
probably benign |
Het |
| Ldlr |
T |
A |
9: 21,737,945 (GRCm38) |
C339S |
probably damaging |
Het |
| Myh2 |
G |
A |
11: 67,181,344 (GRCm38) |
E633K |
probably null |
Het |
| Myl10 |
G |
C |
5: 136,697,971 (GRCm38) |
V70L |
probably benign |
Het |
| Mylk |
A |
T |
16: 34,972,019 (GRCm38) |
E1570V |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,887,943 (GRCm38) |
|
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,807,296 (GRCm38) |
L896H |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,189,222 (GRCm38) |
S59R |
probably damaging |
Het |
| Ndc1 |
T |
A |
4: 107,390,398 (GRCm38) |
S468T |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,601,445 (GRCm38) |
N512S |
probably damaging |
Het |
| Olfr1138 |
T |
A |
2: 87,737,803 (GRCm38) |
I174F |
probably damaging |
Het |
| Olfr65 |
A |
G |
7: 103,906,403 (GRCm38) |
|
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,228,240 (GRCm38) |
I54V |
possibly damaging |
Het |
| Polr3c |
T |
C |
3: 96,715,652 (GRCm38) |
E350G |
probably null |
Het |
| Pskh1 |
T |
G |
8: 105,929,855 (GRCm38) |
S388A |
possibly damaging |
Het |
| Pum1 |
T |
C |
4: 130,751,525 (GRCm38) |
V486A |
possibly damaging |
Het |
| Rin2 |
T |
G |
2: 145,861,057 (GRCm38) |
S558A |
probably damaging |
Het |
| Ripk4 |
A |
T |
16: 97,763,537 (GRCm38) |
V58D |
probably damaging |
Het |
| Slc17a3 |
A |
G |
13: 23,858,087 (GRCm38) |
R491G |
unknown |
Het |
| Smyd3 |
A |
G |
1: 179,410,463 (GRCm38) |
M113T |
possibly damaging |
Het |
| Ssh2 |
A |
G |
11: 77,441,985 (GRCm38) |
R431G |
probably damaging |
Het |
| Timm22 |
G |
A |
11: 76,414,105 (GRCm38) |
D190N |
probably damaging |
Het |
| Ube2g1 |
G |
A |
11: 72,677,765 (GRCm38) |
G103D |
probably benign |
Het |
| Zbtb5 |
A |
T |
4: 44,994,972 (GRCm38) |
S137R |
probably benign |
Het |
| Zfp105 |
A |
G |
9: 122,925,129 (GRCm38) |
T8A |
probably benign |
Het |
| Zfp286 |
A |
T |
11: 62,753,519 (GRCm38) |
I192K |
unknown |
Het |
| Zfp942 |
T |
C |
17: 21,930,410 (GRCm38) |
Y38C |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 122,335,584 (GRCm38) |
S461P |
probably benign |
Het |
|
| Other mutations in Ebf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01150:Ebf1
|
APN |
11 |
44,869,100 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02228:Ebf1
|
APN |
11 |
44,972,912 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02430:Ebf1
|
APN |
11 |
44,924,576 (GRCm38) |
critical splice donor site |
probably null |
|
|
Befuddled
|
UTSW |
11 |
44,632,775 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Catastrophic
|
UTSW |
11 |
44,883,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Crabapple
|
UTSW |
11 |
44,883,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Crater_lake
|
UTSW |
11 |
44,972,908 (GRCm38) |
nonsense |
probably null |
|
|
ebby
|
UTSW |
11 |
44,883,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Oregano
|
UTSW |
11 |
44,869,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Oregano2
|
UTSW |
11 |
44,990,504 (GRCm38) |
splice site |
probably null |
|
|
Realtor
|
UTSW |
11 |
44,620,547 (GRCm38) |
missense |
probably benign |
0.05 |
|
Vie
|
UTSW |
11 |
44,972,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0102:Ebf1
|
UTSW |
11 |
44,991,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0102:Ebf1
|
UTSW |
11 |
44,991,455 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0141:Ebf1
|
UTSW |
11 |
44,908,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0230:Ebf1
|
UTSW |
11 |
44,996,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0243:Ebf1
|
UTSW |
11 |
44,869,088 (GRCm38) |
splice site |
probably benign |
|
|
R0268:Ebf1
|
UTSW |
11 |
44,643,413 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0414:Ebf1
|
UTSW |
11 |
44,924,470 (GRCm38) |
nonsense |
probably null |
|
|
R0648:Ebf1
|
UTSW |
11 |
44,991,510 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0765:Ebf1
|
UTSW |
11 |
44,869,160 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1055:Ebf1
|
UTSW |
11 |
44,632,775 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1432:Ebf1
|
UTSW |
11 |
45,004,706 (GRCm38) |
splice site |
probably benign |
|
|
R1713:Ebf1
|
UTSW |
11 |
44,924,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1749:Ebf1
|
UTSW |
11 |
44,908,008 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1989:Ebf1
|
UTSW |
11 |
44,621,966 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2405:Ebf1
|
UTSW |
11 |
44,991,522 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3110:Ebf1
|
UTSW |
11 |
44,643,398 (GRCm38) |
splice site |
probably benign |
|
|
R4538:Ebf1
|
UTSW |
11 |
44,907,995 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4666:Ebf1
|
UTSW |
11 |
44,991,557 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4855:Ebf1
|
UTSW |
11 |
44,972,908 (GRCm38) |
nonsense |
probably null |
|
|
R4904:Ebf1
|
UTSW |
11 |
44,869,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5137:Ebf1
|
UTSW |
11 |
44,991,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5569:Ebf1
|
UTSW |
11 |
44,992,401 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5849:Ebf1
|
UTSW |
11 |
44,990,504 (GRCm38) |
splice site |
probably null |
|
|
R5940:Ebf1
|
UTSW |
11 |
44,621,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5989:Ebf1
|
UTSW |
11 |
44,996,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6170:Ebf1
|
UTSW |
11 |
44,883,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6512:Ebf1
|
UTSW |
11 |
44,992,341 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6747:Ebf1
|
UTSW |
11 |
44,883,814 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7031:Ebf1
|
UTSW |
11 |
44,621,968 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7042:Ebf1
|
UTSW |
11 |
44,991,511 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8067:Ebf1
|
UTSW |
11 |
44,620,547 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8125:Ebf1
|
UTSW |
11 |
44,972,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8413:Ebf1
|
UTSW |
11 |
44,643,447 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8863:Ebf1
|
UTSW |
11 |
44,883,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9178:Ebf1
|
UTSW |
11 |
45,004,721 (GRCm38) |
missense |
probably benign |
0.20 |
|
R9178:Ebf1
|
UTSW |
11 |
44,992,449 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9511:Ebf1
|
UTSW |
11 |
44,924,566 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9603:Ebf1
|
UTSW |
11 |
44,618,179 (GRCm38) |
start codon destroyed |
probably null |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTAGCCATCTAACTCTGCG -3'
(R):5'- AGACTCAAGTAGGGTTCCGC -3'
Sequencing Primer
(F):5'- AGCCATCTAACTCTGCGTCTTTGG -3'
(R):5'- GGAGTGTGAGCAAACCTTT -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation