Incidental Mutation 'R1055:Ebf1'
| ID |
94286 |
| 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 |
039145-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.896)
|
| Stock # |
R1055 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
44508144-44898918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44523602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 146
(K146E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081265]
[ENSMUST00000101326]
[ENSMUST00000109268]
|
| AlphaFold |
Q07802 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081265
AA Change: K146E
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: K146E
| 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 damaging
Transcript: ENSMUST00000101326
AA Change: K146E
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: K146E
| 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 damaging
Transcript: ENSMUST00000109268
AA Change: K146E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: K146E
| 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: ENSMUST00000135993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149997
|
| Meta Mutation Damage Score |
0.2337 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.3%
- 20x: 87.5%
|
| Validation Efficiency |
100% (58/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
G |
14: 64,210,724 (GRCm39) |
V168A |
possibly damaging |
Het |
| A1cf |
C |
A |
19: 31,909,919 (GRCm39) |
T237N |
probably benign |
Het |
| Actl10 |
A |
T |
2: 154,394,588 (GRCm39) |
Q180L |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,059,075 (GRCm39) |
L327P |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,044,685 (GRCm39) |
|
probably benign |
Het |
| Ahctf1 |
G |
A |
1: 179,591,051 (GRCm39) |
T1243I |
possibly damaging |
Het |
| Akap6 |
C |
T |
12: 52,927,455 (GRCm39) |
Q122* |
probably null |
Het |
| Apob |
G |
A |
12: 8,044,963 (GRCm39) |
G861D |
probably damaging |
Het |
| Arhgef11 |
A |
C |
3: 87,624,425 (GRCm39) |
T539P |
probably benign |
Het |
| Cd244a |
T |
A |
1: 171,404,844 (GRCm39) |
V232E |
probably damaging |
Het |
| Chia1 |
A |
C |
3: 106,038,199 (GRCm39) |
D365A |
probably damaging |
Het |
| Clpsl2 |
C |
T |
17: 28,768,500 (GRCm39) |
Q5* |
probably null |
Het |
| Clrn1 |
T |
A |
3: 58,772,531 (GRCm39) |
I117F |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,744,933 (GRCm39) |
L1354P |
probably damaging |
Het |
| Csn2 |
G |
A |
5: 87,842,596 (GRCm39) |
P144S |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,286,593 (GRCm39) |
M172K |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 66,050,837 (GRCm39) |
W152R |
probably damaging |
Het |
| Dnmt3a |
T |
A |
12: 3,922,864 (GRCm39) |
S82T |
probably benign |
Het |
| Gfpt2 |
A |
C |
11: 49,718,038 (GRCm39) |
R504S |
probably damaging |
Het |
| Gpank1 |
T |
A |
17: 35,343,284 (GRCm39) |
S255T |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,732,252 (GRCm39) |
M1570V |
probably damaging |
Het |
| Gtf2i |
A |
T |
5: 134,292,478 (GRCm39) |
I403K |
probably damaging |
Het |
| Hoxc11 |
T |
A |
15: 102,863,270 (GRCm39) |
C104S |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ilrun |
T |
C |
17: 27,986,910 (GRCm39) |
N272S |
probably damaging |
Het |
| Khdrbs2 |
A |
T |
1: 32,683,238 (GRCm39) |
|
probably benign |
Het |
| Lix1l |
G |
T |
3: 96,528,626 (GRCm39) |
G200V |
probably damaging |
Het |
| Lrrc23 |
T |
C |
6: 124,755,114 (GRCm39) |
N141S |
probably damaging |
Het |
| Marchf11 |
A |
T |
15: 26,309,748 (GRCm39) |
D134V |
probably damaging |
Het |
| Myo9a |
A |
T |
9: 59,762,653 (GRCm39) |
T795S |
probably benign |
Het |
| Nhsl1 |
T |
A |
10: 18,401,223 (GRCm39) |
D782E |
probably benign |
Het |
| Nptxr |
T |
C |
15: 79,674,456 (GRCm39) |
|
probably benign |
Het |
| Nrp1 |
A |
G |
8: 129,195,079 (GRCm39) |
M512V |
possibly damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or12e7 |
ATTGCTACTC |
A |
2: 87,287,781 (GRCm39) |
|
probably benign |
Het |
| Or5b3 |
G |
A |
19: 13,388,754 (GRCm39) |
A274T |
probably benign |
Het |
| Pard3 |
T |
C |
8: 128,104,761 (GRCm39) |
F267S |
probably benign |
Het |
| Pomt2 |
G |
A |
12: 87,194,254 (GRCm39) |
T50M |
possibly damaging |
Het |
| Qsox2 |
A |
G |
2: 26,104,137 (GRCm39) |
Y298H |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,382,080 (GRCm39) |
K450E |
possibly damaging |
Het |
| Rpa1 |
A |
T |
11: 75,193,558 (GRCm39) |
V591D |
probably damaging |
Het |
| Sall3 |
A |
C |
18: 81,013,007 (GRCm39) |
M1143R |
probably benign |
Het |
| Scgb1b19 |
G |
T |
7: 32,986,768 (GRCm39) |
A13S |
unknown |
Het |
| Scn1a |
T |
C |
2: 66,168,340 (GRCm39) |
T89A |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sdr42e1 |
T |
G |
8: 118,390,323 (GRCm39) |
N106T |
probably damaging |
Het |
| Shpk |
A |
T |
11: 73,105,945 (GRCm39) |
M266L |
probably benign |
Het |
| Slc34a1 |
G |
T |
13: 55,550,846 (GRCm39) |
R139L |
probably benign |
Het |
| Smbd1 |
C |
A |
16: 32,627,088 (GRCm39) |
D67Y |
probably damaging |
Het |
| Srd5a3 |
A |
G |
5: 76,301,485 (GRCm39) |
N238S |
probably benign |
Het |
| Tmprss2 |
T |
C |
16: 97,377,462 (GRCm39) |
N212D |
probably damaging |
Het |
| Uap1 |
G |
T |
1: 169,984,480 (GRCm39) |
|
probably benign |
Het |
| Ugt1a6a |
A |
G |
1: 88,066,736 (GRCm39) |
M181V |
probably benign |
Het |
| Vmn2r32 |
C |
T |
7: 7,477,326 (GRCm39) |
W355* |
probably null |
Het |
| Vmn2r86 |
T |
A |
10: 130,282,226 (GRCm39) |
S797C |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,606,616 (GRCm39) |
S40P |
probably damaging |
Het |
| Zfand6 |
A |
G |
7: 84,265,181 (GRCm39) |
|
probably benign |
Het |
| Zfp280d |
G |
A |
9: 72,236,449 (GRCm39) |
|
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 |
|
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 |
|
R1749:Ebf1
|
UTSW |
11 |
44,798,835 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
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'- CCACTCAATTTGGGCTGATCCTGAC -3'
(R):5'- CTGAGAACCGACATGATCCTTGACC -3'
Sequencing Primer
(F):5'- TGGGCTGATCCTGACCAATG -3'
(R):5'- ATGTGTCTGATAATTCTTCCAGACC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation