Incidental Mutation 'R5849:Ebf1'
| ID |
453786 |
| 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 |
044066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R5849 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
44508144-44898918 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 44881331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081265]
[ENSMUST00000081265]
[ENSMUST00000101326]
[ENSMUST00000101326]
[ENSMUST00000109268]
[ENSMUST00000109268]
|
| AlphaFold |
Q07802 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081265
|
| SMART Domains |
Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
| 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 null
Transcript: ENSMUST00000081265
|
| SMART Domains |
Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
| 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 null
Transcript: ENSMUST00000101326
|
| SMART Domains |
Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
| 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 null
Transcript: ENSMUST00000101326
|
| SMART Domains |
Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
| 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 null
Transcript: ENSMUST00000109268
|
| SMART Domains |
Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
| 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 |
probably null
Transcript: ENSMUST00000109268
|
| SMART Domains |
Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
96% (72/75) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Agbl1 |
T |
C |
7: 75,974,846 (GRCm39) |
S113P |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,224,045 (GRCm39) |
D486G |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,163,312 (GRCm39) |
D111G |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,665,192 (GRCm39) |
S469G |
probably null |
Het |
| Comtd1 |
C |
T |
14: 21,898,188 (GRCm39) |
G48D |
probably damaging |
Het |
| Cyp27a1 |
T |
C |
1: 74,775,843 (GRCm39) |
S343P |
probably damaging |
Het |
| Dcun1d1 |
T |
A |
3: 35,970,333 (GRCm39) |
|
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,744,223 (GRCm39) |
I1404T |
possibly damaging |
Het |
| Dlgap5 |
A |
G |
14: 47,626,892 (GRCm39) |
S766P |
possibly damaging |
Het |
| Flcn |
T |
A |
11: 59,695,586 (GRCm39) |
I4L |
probably damaging |
Het |
| Gm57858 |
A |
T |
3: 36,087,026 (GRCm39) |
D189E |
possibly damaging |
Het |
| Grin2c |
T |
C |
11: 115,151,817 (GRCm39) |
T48A |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,891,555 (GRCm39) |
S456R |
probably benign |
Het |
| Igf1r |
A |
G |
7: 67,839,781 (GRCm39) |
D696G |
probably benign |
Het |
| Iqgap1 |
A |
T |
7: 80,452,906 (GRCm39) |
V13D |
probably benign |
Het |
| Itgal |
A |
G |
7: 126,916,492 (GRCm39) |
N728S |
probably benign |
Het |
| Kcnb1 |
T |
A |
2: 166,947,946 (GRCm39) |
I301F |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,366,111 (GRCm39) |
|
probably benign |
Het |
| Kdm4a |
C |
T |
4: 118,019,037 (GRCm39) |
R393Q |
probably benign |
Het |
| Lcn9 |
G |
A |
2: 25,713,268 (GRCm39) |
|
probably null |
Het |
| Madcam1 |
T |
A |
10: 79,500,824 (GRCm39) |
M47K |
probably benign |
Het |
| Matn3 |
A |
G |
12: 9,008,829 (GRCm39) |
Q314R |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,386,386 (GRCm39) |
D826E |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,595,213 (GRCm39) |
T3088S |
possibly damaging |
Het |
| Mup3 |
T |
G |
4: 62,005,172 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
G |
11: 115,772,759 (GRCm39) |
K1807E |
probably damaging |
Het |
| Myrip |
A |
G |
9: 120,282,759 (GRCm39) |
D688G |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,840,452 (GRCm39) |
F1052S |
probably damaging |
Het |
| Oplah |
T |
A |
15: 76,181,547 (GRCm39) |
|
probably benign |
Het |
| Or4f14d |
A |
T |
2: 111,960,223 (GRCm39) |
I311K |
probably benign |
Het |
| Or52r1c |
T |
A |
7: 102,734,728 (GRCm39) |
M1K |
probably null |
Het |
| Or6z3 |
A |
T |
7: 6,463,993 (GRCm39) |
I162F |
possibly damaging |
Het |
| Or9g19 |
A |
T |
2: 85,600,768 (GRCm39) |
I208F |
probably benign |
Het |
| Pacsin2 |
A |
G |
15: 83,274,719 (GRCm39) |
F120L |
possibly damaging |
Het |
| Ppp1r36 |
C |
A |
12: 76,485,931 (GRCm39) |
P363Q |
probably damaging |
Het |
| Rai1 |
C |
A |
11: 60,081,347 (GRCm39) |
H1804N |
possibly damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rnf214 |
G |
A |
9: 45,779,386 (GRCm39) |
P455S |
probably damaging |
Het |
| Rnf220 |
T |
C |
4: 117,134,809 (GRCm39) |
T188A |
possibly damaging |
Het |
| S1pr4 |
C |
T |
10: 81,335,157 (GRCm39) |
V106M |
possibly damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,704 (GRCm39) |
S495I |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,443,683 (GRCm39) |
E95G |
possibly damaging |
Het |
| Sema3f |
G |
A |
9: 107,559,815 (GRCm39) |
T693M |
probably damaging |
Het |
| Slfn2 |
C |
A |
11: 82,960,402 (GRCm39) |
T127K |
probably benign |
Het |
| Snrpe |
T |
A |
1: 133,536,652 (GRCm39) |
I43L |
probably benign |
Het |
| Srsf1 |
T |
C |
11: 87,938,684 (GRCm39) |
I7T |
possibly damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,453,837 (GRCm39) |
|
probably benign |
Het |
| Stbd1 |
T |
G |
5: 92,752,854 (GRCm39) |
F115V |
probably benign |
Het |
| Stk11ip |
T |
A |
1: 75,503,999 (GRCm39) |
|
probably null |
Het |
| Taf1b |
T |
A |
12: 24,550,524 (GRCm39) |
N36K |
probably damaging |
Het |
| Tanc1 |
A |
T |
2: 59,630,248 (GRCm39) |
M743L |
probably benign |
Het |
| Tnfsf12 |
C |
A |
11: 69,577,793 (GRCm39) |
R208L |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,511,534 (GRCm39) |
D428G |
probably damaging |
Het |
| Trim24 |
A |
G |
6: 37,934,664 (GRCm39) |
E793G |
probably damaging |
Het |
| Tspan32 |
T |
C |
7: 142,569,324 (GRCm39) |
C100R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,576,586 (GRCm39) |
D16442G |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,863,407 (GRCm39) |
L894Q |
probably damaging |
Het |
| Wfs1 |
C |
G |
5: 37,130,608 (GRCm39) |
G213R |
probably damaging |
Het |
| Zfp384 |
G |
A |
6: 125,001,062 (GRCm39) |
A45T |
possibly damaging |
Het |
| Zfp865 |
G |
T |
7: 5,034,086 (GRCm39) |
K690N |
probably damaging |
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 |
|
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'- CAGCTCTTGACTCAATTAAGTGTG -3'
(R):5'- AGATCCTGTGTTCTGAACGC -3'
Sequencing Primer
(F):5'- TGACTCAATTAAGTGTGTATGTGAAC -3'
(R):5'- ACGCATGAGTATTGCTTTCATAGGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation