Incidental Mutation 'IGL01150:Ebf1'
ID |
52396 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ebf1
|
Ensembl Gene |
ENSMUSG00000057098 |
Gene Name |
early B cell factor 1 |
Synonyms |
Olf1, O/E-1, Olf-1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.896)
|
Stock # |
IGL01150
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
44508144-44898918 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44759927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 188
(L188P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081265]
[ENSMUST00000101326]
[ENSMUST00000109268]
|
AlphaFold |
Q07802 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081265
AA Change: L188P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080020 Gene: ENSMUSG00000057098 AA Change: L188P
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: L188P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000099857 Gene: ENSMUSG00000057098 AA Change: L188P
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: L188P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104891 Gene: ENSMUSG00000057098 AA Change: L188P
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 |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,752,550 (GRCm39) |
D507G |
possibly damaging |
Het |
Actl6a |
A |
G |
3: 32,766,313 (GRCm39) |
I60V |
probably benign |
Het |
Adra2c |
T |
C |
5: 35,438,485 (GRCm39) |
F419S |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,918,618 (GRCm39) |
Y105C |
probably damaging |
Het |
Arid4b |
C |
T |
13: 14,369,959 (GRCm39) |
Q1152* |
probably null |
Het |
Arsj |
A |
G |
3: 126,232,433 (GRCm39) |
D393G |
probably benign |
Het |
Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
Cacna2d3 |
C |
T |
14: 28,905,598 (GRCm39) |
V390I |
possibly damaging |
Het |
Ccdc25 |
T |
A |
14: 66,097,651 (GRCm39) |
M195K |
possibly damaging |
Het |
Cdhr2 |
T |
A |
13: 54,878,931 (GRCm39) |
S979T |
probably benign |
Het |
Cog2 |
T |
C |
8: 125,269,630 (GRCm39) |
F390S |
possibly damaging |
Het |
Dennd5b |
A |
G |
6: 148,969,583 (GRCm39) |
V290A |
probably benign |
Het |
Galt |
T |
C |
4: 41,757,786 (GRCm39) |
|
probably benign |
Het |
Gm12830 |
C |
T |
4: 114,702,261 (GRCm39) |
T141I |
unknown |
Het |
Herc2 |
T |
A |
7: 55,830,881 (GRCm39) |
W2965R |
probably damaging |
Het |
Hrg |
A |
G |
16: 22,777,909 (GRCm39) |
|
probably null |
Het |
Ighv8-5 |
T |
C |
12: 115,031,194 (GRCm39) |
Y115C |
probably damaging |
Het |
Igkv12-89 |
A |
G |
6: 68,812,127 (GRCm39) |
V14A |
probably benign |
Het |
Nav2 |
A |
C |
7: 49,102,269 (GRCm39) |
T295P |
probably benign |
Het |
Niban1 |
T |
C |
1: 151,593,472 (GRCm39) |
V719A |
probably benign |
Het |
Nrg1 |
G |
A |
8: 32,407,903 (GRCm39) |
T110I |
probably damaging |
Het |
Or4c31 |
T |
C |
2: 88,292,419 (GRCm39) |
V264A |
possibly damaging |
Het |
Or51h1 |
A |
C |
7: 102,308,699 (GRCm39) |
K224Q |
probably benign |
Het |
Or7g29 |
A |
T |
9: 19,286,535 (GRCm39) |
I214N |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,726,926 (GRCm39) |
|
probably benign |
Het |
Polg2 |
T |
C |
11: 106,668,258 (GRCm39) |
|
probably null |
Het |
Ptges |
G |
T |
2: 30,782,720 (GRCm39) |
R111S |
probably damaging |
Het |
Rbbp4 |
T |
C |
4: 129,216,668 (GRCm39) |
|
probably benign |
Het |
Rundc3a |
T |
C |
11: 102,284,602 (GRCm39) |
V34A |
probably benign |
Het |
Scn3a |
C |
A |
2: 65,327,709 (GRCm39) |
|
probably null |
Het |
Sec14l3 |
T |
C |
11: 4,026,238 (GRCm39) |
|
probably benign |
Het |
Strip1 |
C |
T |
3: 107,534,047 (GRCm39) |
|
probably null |
Het |
Svep1 |
T |
A |
4: 58,070,302 (GRCm39) |
I2495F |
probably benign |
Het |
Syne1 |
A |
G |
10: 5,393,154 (GRCm39) |
S71P |
probably damaging |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tmem161b |
C |
T |
13: 84,440,526 (GRCm39) |
R133* |
probably null |
Het |
Tnnc2 |
A |
T |
2: 164,619,753 (GRCm39) |
I71N |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,875,845 (GRCm39) |
N1554S |
probably benign |
Het |
Wfdc3 |
A |
T |
2: 164,574,123 (GRCm39) |
|
probably benign |
Het |
Zfp648 |
A |
T |
1: 154,081,110 (GRCm39) |
H423L |
probably damaging |
Het |
|
Other mutations in Ebf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-06-21 |