Incidental Mutation 'R2405:Ebf1'
ID |
247965 |
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 |
040371-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.883)
|
Stock # |
R2405 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
44508144-44898918 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44882349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 427
(M427K)
|
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: M434K
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000080020 Gene: ENSMUSG00000057098 AA Change: M434K
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: M435K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099857 Gene: ENSMUSG00000057098 AA Change: M435K
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: M427K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104891 Gene: ENSMUSG00000057098 AA Change: M427K
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Abl1 |
T |
C |
2: 31,690,986 (GRCm39) |
L835P |
possibly damaging |
Het |
Ascc3 |
T |
A |
10: 50,607,774 (GRCm39) |
V1426D |
probably damaging |
Het |
Ccny |
A |
G |
18: 9,353,480 (GRCm39) |
Y98H |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,660,626 (GRCm39) |
T509M |
probably damaging |
Het |
Crnkl1 |
A |
T |
2: 145,770,077 (GRCm39) |
Y255* |
probably null |
Het |
Cyp2d11 |
C |
T |
15: 82,273,467 (GRCm39) |
S468N |
possibly damaging |
Het |
Dnah7b |
C |
A |
1: 46,402,114 (GRCm39) |
T3983N |
probably benign |
Het |
Fxr1 |
T |
A |
3: 34,116,003 (GRCm39) |
S438T |
probably damaging |
Het |
Gabrr1 |
A |
T |
4: 33,157,110 (GRCm39) |
D209V |
probably damaging |
Het |
Gbx2 |
G |
T |
1: 89,858,630 (GRCm39) |
|
probably benign |
Het |
Gng14 |
A |
G |
8: 85,794,270 (GRCm39) |
I56T |
possibly damaging |
Het |
Gulo |
A |
G |
14: 66,228,477 (GRCm39) |
|
probably null |
Het |
Hhla1 |
A |
T |
15: 65,808,160 (GRCm39) |
L295* |
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,736,092 (GRCm39) |
I126L |
probably damaging |
Het |
Hpse |
A |
G |
5: 100,856,637 (GRCm39) |
S121P |
possibly damaging |
Het |
Inpp5d |
A |
G |
1: 87,627,451 (GRCm39) |
H321R |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kdm5b |
T |
A |
1: 134,536,754 (GRCm39) |
M658K |
probably damaging |
Het |
Kidins220 |
A |
T |
12: 25,061,508 (GRCm39) |
E875V |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,511,810 (GRCm39) |
M53V |
unknown |
Het |
Nlrp4b |
A |
G |
7: 10,448,655 (GRCm39) |
E286G |
probably benign |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Pde3a |
A |
T |
6: 141,426,968 (GRCm39) |
I710F |
probably damaging |
Het |
Phb1 |
T |
C |
11: 95,566,094 (GRCm39) |
I126T |
probably benign |
Het |
Ppp4r1 |
C |
T |
17: 66,118,341 (GRCm39) |
T164I |
possibly damaging |
Het |
Psmc1 |
G |
A |
12: 100,086,362 (GRCm39) |
R333Q |
probably benign |
Het |
Pygb |
A |
G |
2: 150,662,695 (GRCm39) |
Y554C |
probably benign |
Het |
Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
Serpina3a |
A |
T |
12: 104,087,577 (GRCm39) |
M357L |
possibly damaging |
Het |
Serpinb9e |
T |
A |
13: 33,444,063 (GRCm39) |
M361K |
probably benign |
Het |
Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
Slc15a2 |
G |
A |
16: 36,572,199 (GRCm39) |
Q691* |
probably null |
Het |
Slc25a25 |
C |
T |
2: 32,307,731 (GRCm39) |
|
probably null |
Het |
Slc34a2 |
A |
G |
5: 53,215,523 (GRCm39) |
N9S |
probably benign |
Het |
Slc4a2 |
A |
G |
5: 24,640,599 (GRCm39) |
T665A |
probably damaging |
Het |
Spef2 |
C |
A |
15: 9,626,120 (GRCm39) |
E1149* |
probably null |
Het |
Tmem179 |
A |
G |
12: 112,468,347 (GRCm39) |
W45R |
probably damaging |
Het |
Tmpo |
C |
A |
10: 90,999,216 (GRCm39) |
K190N |
probably damaging |
Het |
Triml1 |
T |
C |
8: 43,583,320 (GRCm39) |
Y427C |
probably damaging |
Het |
Trpm2 |
A |
G |
10: 77,770,558 (GRCm39) |
L720P |
probably damaging |
Het |
Vmn1r60 |
A |
G |
7: 5,547,912 (GRCm39) |
Y63H |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,818,102 (GRCm39) |
C560S |
probably damaging |
Het |
Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
Zdhhc13 |
A |
G |
7: 48,472,478 (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 |
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 |
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 |
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'- CACAAAGGTTATTGGGTGGATG -3'
(R):5'- CAAGTGAAGAATCGCCTCCTTTAG -3'
Sequencing Primer
(F):5'- GGATGAGTTGGGGTAGCTAAC -3'
(R):5'- CGCCTCCTTTAGAAGAAAATAGTTG -3'
|
Posted On |
2014-11-11 |