Incidental Mutation 'R7042:Ebf1'
ID |
547121 |
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 |
045141-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.883)
|
Stock # |
R7042 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
44508144-44898918 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44882338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 431
(H431Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081265]
[ENSMUST00000101326]
[ENSMUST00000109268]
|
AlphaFold |
Q07802 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081265
AA Change: H430Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000080020 Gene: ENSMUSG00000057098 AA Change: H430Q
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: H431Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099857 Gene: ENSMUSG00000057098 AA Change: H431Q
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: H423Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104891 Gene: ENSMUSG00000057098 AA Change: H423Q
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (54/54) |
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 |
Acsbg3 |
A |
G |
17: 57,192,098 (GRCm39) |
S554G |
possibly damaging |
Het |
Adcy7 |
G |
T |
8: 89,042,378 (GRCm39) |
R415L |
probably damaging |
Het |
Aox1 |
A |
T |
1: 58,141,759 (GRCm39) |
I1182F |
probably damaging |
Het |
Ccdc7b |
T |
A |
8: 129,811,730 (GRCm39) |
Y147N |
probably benign |
Het |
Clcnka |
A |
G |
4: 141,118,691 (GRCm39) |
I398T |
probably damaging |
Het |
Cst8 |
T |
A |
2: 148,641,796 (GRCm39) |
|
probably null |
Het |
Dcxr |
T |
C |
11: 120,617,841 (GRCm39) |
D45G |
possibly damaging |
Het |
Dhx38 |
A |
T |
8: 110,283,617 (GRCm39) |
M510K |
possibly damaging |
Het |
Dync2i1 |
T |
C |
12: 116,218,061 (GRCm39) |
I182M |
probably benign |
Het |
Eml4 |
T |
C |
17: 83,768,999 (GRCm39) |
I681T |
probably damaging |
Het |
Etf1 |
T |
C |
18: 35,043,219 (GRCm39) |
N164S |
probably benign |
Het |
Fmo2 |
A |
G |
1: 162,708,226 (GRCm39) |
V303A |
probably damaging |
Het |
Foxl2 |
T |
A |
9: 98,837,715 (GRCm39) |
M1K |
probably null |
Het |
Gm3404 |
A |
T |
5: 146,462,969 (GRCm39) |
E50D |
probably benign |
Het |
Gpr61 |
G |
A |
3: 108,058,647 (GRCm39) |
P5S |
possibly damaging |
Het |
Hcrtr1 |
A |
G |
4: 130,024,653 (GRCm39) |
|
probably benign |
Het |
Ier3ip1 |
T |
A |
18: 77,017,828 (GRCm39) |
F3I |
possibly damaging |
Het |
Ifi206 |
G |
A |
1: 173,308,808 (GRCm39) |
P396L |
|
Het |
Ifi209 |
G |
A |
1: 173,470,236 (GRCm39) |
V275I |
probably benign |
Het |
Ighv1-69 |
T |
C |
12: 115,586,909 (GRCm39) |
S75G |
probably benign |
Het |
Kcnj3 |
A |
T |
2: 55,484,877 (GRCm39) |
H325L |
possibly damaging |
Het |
Klrk1 |
A |
T |
6: 129,593,734 (GRCm39) |
S50T |
possibly damaging |
Het |
Mfsd4b4 |
T |
A |
10: 39,768,514 (GRCm39) |
Y193F |
probably damaging |
Het |
Nlrp5 |
A |
G |
7: 23,116,905 (GRCm39) |
I210V |
possibly damaging |
Het |
Or4p20 |
T |
A |
2: 88,253,746 (GRCm39) |
I208F |
possibly damaging |
Het |
Or5w12 |
A |
T |
2: 87,501,935 (GRCm39) |
Y259N |
possibly damaging |
Het |
Or8b3 |
G |
T |
9: 38,314,196 (GRCm39) |
G6C |
probably damaging |
Het |
Or8d23 |
A |
G |
9: 38,841,622 (GRCm39) |
S52G |
possibly damaging |
Het |
Pax6 |
A |
T |
2: 105,526,718 (GRCm39) |
H208L |
probably benign |
Het |
Pgc |
C |
A |
17: 48,044,745 (GRCm39) |
Q331K |
probably benign |
Het |
Phldb1 |
A |
G |
9: 44,605,721 (GRCm39) |
S370P |
probably damaging |
Het |
Pi4k2a |
T |
C |
19: 42,093,337 (GRCm39) |
I226T |
probably benign |
Het |
Pick1 |
T |
C |
15: 79,132,965 (GRCm39) |
S342P |
probably damaging |
Het |
Plscr1 |
A |
G |
9: 92,153,588 (GRCm39) |
M312V |
probably damaging |
Het |
Ppp3cc |
T |
G |
14: 70,462,468 (GRCm39) |
K399Q |
probably benign |
Het |
Qpctl |
T |
C |
7: 18,880,943 (GRCm39) |
H163R |
probably benign |
Het |
Rab11fip5 |
A |
G |
6: 85,351,110 (GRCm39) |
V134A |
possibly damaging |
Het |
Rasal1 |
T |
A |
5: 120,802,025 (GRCm39) |
|
probably null |
Het |
Rem2 |
T |
A |
14: 54,715,548 (GRCm39) |
I171N |
probably damaging |
Het |
Sec22a |
T |
A |
16: 35,149,885 (GRCm39) |
I214L |
probably benign |
Het |
Setbp1 |
T |
C |
18: 79,130,070 (GRCm39) |
D54G |
probably damaging |
Het |
Slc27a2 |
C |
T |
2: 126,409,700 (GRCm39) |
A294V |
probably damaging |
Het |
Slfn14 |
T |
A |
11: 83,167,430 (GRCm39) |
D695V |
probably damaging |
Het |
Smc6 |
T |
A |
12: 11,359,301 (GRCm39) |
I975K |
probably damaging |
Het |
Spice1 |
T |
C |
16: 44,206,043 (GRCm39) |
F835L |
probably benign |
Het |
Tars2 |
A |
T |
3: 95,658,057 (GRCm39) |
H222Q |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,206,477 (GRCm39) |
F273I |
probably damaging |
Het |
Ttc39d |
C |
A |
17: 80,523,891 (GRCm39) |
D183E |
probably benign |
Het |
Vasp |
A |
G |
7: 18,995,946 (GRCm39) |
S128P |
probably benign |
Het |
Vcpip1 |
A |
G |
1: 9,818,378 (GRCm39) |
S2P |
unknown |
Het |
Vmn2r98 |
T |
C |
17: 19,301,184 (GRCm39) |
Y729H |
probably benign |
Het |
Wdr18 |
A |
T |
10: 79,801,944 (GRCm39) |
D243V |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,343,633 (GRCm39) |
V1958A |
probably benign |
Het |
Zfp451 |
A |
T |
1: 33,816,474 (GRCm39) |
M492K |
probably damaging |
Het |
Zfp804b |
A |
G |
5: 6,820,042 (GRCm39) |
I1007T |
probably benign |
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 |
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 |
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'- TGACCACGTAAGGCTCTGAG -3'
(R):5'- CGCCTCCTTTAGAAGAAAATAGTTG -3'
Sequencing Primer
(F):5'- CTGAGCACAGAATATGTCAGAGAAG -3'
(R):5'- AATAGTTGTTTCTCTCTCTCTCTCTC -3'
|
Posted On |
2019-05-13 |