Incidental Mutation 'R1749:Ebf1'
| ID |
194208 |
| 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 |
039781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R1749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
44508144-44898918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44798835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 287
(I287L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081265]
[ENSMUST00000101326]
[ENSMUST00000109268]
|
| AlphaFold |
Q07802 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081265
AA Change: I294L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: I294L
| 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: I295L
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: I295L
| 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 |
possibly damaging
Transcript: ENSMUST00000109268
AA Change: I287L
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: I287L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140822
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 93.0%
|
| Validation Efficiency |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
A |
T |
3: 152,178,557 (GRCm39) |
M486K |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Aspn |
A |
T |
13: 49,705,261 (GRCm39) |
D41V |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,097,623 (GRCm39) |
E802* |
probably null |
Het |
| Barhl2 |
T |
C |
5: 106,605,572 (GRCm39) |
S46G |
unknown |
Het |
| Cacna1e |
A |
G |
1: 154,319,746 (GRCm39) |
V1318A |
probably damaging |
Het |
| Ccdc69 |
T |
C |
11: 54,941,979 (GRCm39) |
R176G |
probably null |
Het |
| Cdan1 |
T |
C |
2: 120,560,280 (GRCm39) |
N321S |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,154,250 (GRCm39) |
D681G |
probably damaging |
Het |
| Cntrob |
A |
T |
11: 69,213,700 (GRCm39) |
V30E |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,449,056 (GRCm39) |
G3646E |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,789 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
T |
4: 104,185,495 (GRCm39) |
|
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,039,352 (GRCm39) |
S167P |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,182,767 (GRCm39) |
|
probably null |
Het |
| Dok3 |
GCC |
GC |
13: 55,672,168 (GRCm39) |
|
probably null |
Het |
| Eci1 |
G |
A |
17: 24,645,721 (GRCm39) |
|
probably null |
Het |
| Emb |
T |
A |
13: 117,386,242 (GRCm39) |
I133N |
possibly damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,298,443 (GRCm39) |
I184V |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,183,348 (GRCm39) |
D1779G |
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,315,605 (GRCm39) |
|
probably null |
Het |
| Flt1 |
G |
A |
5: 147,591,929 (GRCm39) |
T511M |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,089,456 (GRCm39) |
L205P |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,483,379 (GRCm39) |
V134A |
probably damaging |
Het |
| Htr3a |
A |
G |
9: 48,812,233 (GRCm39) |
V291A |
probably damaging |
Het |
| Ip6k3 |
T |
A |
17: 27,364,053 (GRCm39) |
T332S |
probably benign |
Het |
| Klra6 |
A |
T |
6: 129,995,915 (GRCm39) |
F148I |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,927,162 (GRCm39) |
S1206P |
probably benign |
Het |
| Mbnl2 |
T |
A |
14: 120,626,462 (GRCm39) |
C231S |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,773,952 (GRCm39) |
D5521V |
probably damaging |
Het |
| Mylip |
G |
A |
13: 45,557,946 (GRCm39) |
V52M |
possibly damaging |
Het |
| Naip6 |
A |
G |
13: 100,444,763 (GRCm39) |
S232P |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,808,550 (GRCm39) |
K504R |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,753,694 (GRCm39) |
N220S |
possibly damaging |
Het |
| Nfasc |
T |
A |
1: 132,539,370 (GRCm39) |
I393F |
probably damaging |
Het |
| Or12d2 |
T |
C |
17: 37,624,952 (GRCm39) |
T108A |
probably benign |
Het |
| Pabpc1 |
T |
C |
15: 36,608,584 (GRCm39) |
Y56C |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,938,542 (GRCm39) |
K498R |
probably damaging |
Het |
| Phldb1 |
A |
G |
9: 44,627,045 (GRCm39) |
S467P |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 116,544,048 (GRCm39) |
S47P |
probably benign |
Het |
| Rtca |
A |
T |
3: 116,291,293 (GRCm39) |
I229N |
possibly damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,286,359 (GRCm39) |
S617R |
probably damaging |
Het |
| Slc14a2 |
T |
G |
18: 78,190,295 (GRCm39) |
T885P |
possibly damaging |
Het |
| Sp100 |
A |
C |
1: 85,627,357 (GRCm39) |
T417P |
possibly damaging |
Het |
| Tat |
A |
T |
8: 110,722,846 (GRCm39) |
N303Y |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,185,892 (GRCm39) |
|
probably null |
Het |
| Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
| Tnks1bp1 |
A |
G |
2: 84,893,411 (GRCm39) |
S1113G |
probably benign |
Het |
| Tspear |
G |
A |
10: 77,705,507 (GRCm39) |
E302K |
probably benign |
Het |
| Tulp3 |
A |
G |
6: 128,314,722 (GRCm39) |
L23P |
probably damaging |
Het |
| Vti1b |
T |
C |
12: 79,211,807 (GRCm39) |
E42G |
probably damaging |
Het |
| Yeats2 |
G |
T |
16: 20,005,018 (GRCm39) |
E333* |
probably null |
Het |
| Zfp455 |
T |
G |
13: 67,355,073 (GRCm39) |
C114G |
probably damaging |
Het |
| Zfp532 |
G |
A |
18: 65,756,555 (GRCm39) |
V163M |
possibly damaging |
Het |
| Zfp940 |
A |
T |
7: 29,544,952 (GRCm39) |
C318* |
probably null |
Het |
|
| Other mutations in Ebf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01150:Ebf1
|
APN |
11 |
44,759,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02228:Ebf1
|
APN |
11 |
44,863,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02430:Ebf1
|
APN |
11 |
44,815,403 (GRCm39) |
critical splice donor site |
probably null |
|
|
Befuddled
|
UTSW |
11 |
44,523,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Catastrophic
|
UTSW |
11 |
44,774,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Crabapple
|
UTSW |
11 |
44,774,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Crater_lake
|
UTSW |
11 |
44,863,735 (GRCm39) |
nonsense |
probably null |
|
|
ebby
|
UTSW |
11 |
44,774,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Oregano
|
UTSW |
11 |
44,759,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Oregano2
|
UTSW |
11 |
44,881,331 (GRCm39) |
splice site |
probably null |
|
|
Realtor
|
UTSW |
11 |
44,511,374 (GRCm39) |
missense |
probably benign |
0.05 |
|
Vie
|
UTSW |
11 |
44,863,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Ebf1
|
UTSW |
11 |
44,882,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0102:Ebf1
|
UTSW |
11 |
44,882,282 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0141:Ebf1
|
UTSW |
11 |
44,798,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Ebf1
|
UTSW |
11 |
44,886,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Ebf1
|
UTSW |
11 |
44,759,915 (GRCm39) |
splice site |
probably benign |
|
|
R0268:Ebf1
|
UTSW |
11 |
44,534,240 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0414:Ebf1
|
UTSW |
11 |
44,815,297 (GRCm39) |
nonsense |
probably null |
|
|
R0648:Ebf1
|
UTSW |
11 |
44,882,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0765:Ebf1
|
UTSW |
11 |
44,759,987 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1055:Ebf1
|
UTSW |
11 |
44,523,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1432:Ebf1
|
UTSW |
11 |
44,895,533 (GRCm39) |
splice site |
probably benign |
|
|
R1713:Ebf1
|
UTSW |
11 |
44,815,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Ebf1
|
UTSW |
11 |
44,512,793 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2405:Ebf1
|
UTSW |
11 |
44,882,349 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3110:Ebf1
|
UTSW |
11 |
44,534,225 (GRCm39) |
splice site |
probably benign |
|
|
R4538:Ebf1
|
UTSW |
11 |
44,798,822 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4666:Ebf1
|
UTSW |
11 |
44,882,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4855:Ebf1
|
UTSW |
11 |
44,863,735 (GRCm39) |
nonsense |
probably null |
|
|
R4904:Ebf1
|
UTSW |
11 |
44,759,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Ebf1
|
UTSW |
11 |
44,882,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5569:Ebf1
|
UTSW |
11 |
44,883,228 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5849:Ebf1
|
UTSW |
11 |
44,881,331 (GRCm39) |
splice site |
probably null |
|
|
R5940:Ebf1
|
UTSW |
11 |
44,512,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5989:Ebf1
|
UTSW |
11 |
44,886,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Ebf1
|
UTSW |
11 |
44,774,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6512:Ebf1
|
UTSW |
11 |
44,883,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Ebf1
|
UTSW |
11 |
44,774,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:Ebf1
|
UTSW |
11 |
44,512,795 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7042:Ebf1
|
UTSW |
11 |
44,882,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8065:Ebf1
|
UTSW |
11 |
44,511,374 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8067:Ebf1
|
UTSW |
11 |
44,511,374 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8125:Ebf1
|
UTSW |
11 |
44,863,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8413:Ebf1
|
UTSW |
11 |
44,534,274 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8863:Ebf1
|
UTSW |
11 |
44,774,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9178:Ebf1
|
UTSW |
11 |
44,895,548 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9178:Ebf1
|
UTSW |
11 |
44,883,276 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9511:Ebf1
|
UTSW |
11 |
44,815,393 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9603:Ebf1
|
UTSW |
11 |
44,509,006 (GRCm39) |
start codon destroyed |
probably null |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTCCTTATGTGGCTAGGAAATGC -3'
(R):5'- TGATGCCAACAGTAAGAATTTGCCTCC -3'
Sequencing Primer
(F):5'- TGGCTAGGAAATGCTGAGATCTG -3'
(R):5'- GGGAAACTCAGTTCATCTTTTCCAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation