Incidental Mutation 'R6170:Ebf1'
| ID |
490398 |
| 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 |
044431-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
R6170 (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 44774712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 236
(N236K)
|
| 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: N236K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080020
Gene: ENSMUSG00000057098
AA Change: N236K
| 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: N236K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099857
Gene: ENSMUSG00000057098
AA Change: N236K
| 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: N236K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104891
Gene: ENSMUSG00000057098
AA Change: N236K
| 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 |
0.7195 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
96% (68/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
A |
6: 72,325,555 (GRCm39) |
S90R |
probably benign |
Het |
| 4930523C07Rik |
C |
A |
1: 159,902,743 (GRCm39) |
N4K |
possibly damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,528,645 (GRCm39) |
S1167P |
probably damaging |
Het |
| Akr1e1 |
T |
C |
13: 4,652,723 (GRCm39) |
D94G |
possibly damaging |
Het |
| Anln |
T |
C |
9: 22,279,793 (GRCm39) |
N466D |
probably benign |
Het |
| Atp9b |
T |
A |
18: 80,920,562 (GRCm39) |
I231L |
probably benign |
Het |
| Bpifb3 |
T |
A |
2: 153,761,557 (GRCm39) |
M2K |
unknown |
Het |
| Btbd3 |
T |
C |
2: 138,120,862 (GRCm39) |
L12P |
probably damaging |
Het |
| Btnl6 |
T |
A |
17: 34,734,480 (GRCm39) |
Y94F |
probably damaging |
Het |
| Cab39 |
T |
A |
1: 85,746,176 (GRCm39) |
L19* |
probably null |
Het |
| Cacna2d2 |
A |
G |
9: 107,404,533 (GRCm39) |
D1114G |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,776,216 (GRCm39) |
|
probably null |
Het |
| Cdh11 |
A |
G |
8: 103,361,442 (GRCm39) |
V632A |
probably benign |
Het |
| Cemip |
T |
G |
7: 83,596,438 (GRCm39) |
T1109P |
possibly damaging |
Het |
| Col7a1 |
C |
A |
9: 108,795,511 (GRCm39) |
P1522Q |
unknown |
Het |
| Colgalt1 |
C |
T |
8: 72,074,514 (GRCm39) |
L409F |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,166,907 (GRCm39) |
M125V |
probably benign |
Het |
| Cyp2b19 |
T |
G |
7: 26,458,519 (GRCm39) |
M78R |
possibly damaging |
Het |
| Cyp4a12a |
A |
C |
4: 115,184,643 (GRCm39) |
D308A |
possibly damaging |
Het |
| D16Ertd472e |
T |
C |
16: 78,342,155 (GRCm39) |
T242A |
probably benign |
Het |
| Ddah1 |
A |
G |
3: 145,597,261 (GRCm39) |
D166G |
probably benign |
Het |
| Dmtn |
T |
C |
14: 70,854,795 (GRCm39) |
D60G |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,469,043 (GRCm39) |
D607V |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,093,689 (GRCm39) |
T600A |
probably benign |
Het |
| Fbxo33 |
T |
C |
12: 59,251,435 (GRCm39) |
N360S |
probably benign |
Het |
| Fbxw5 |
A |
G |
2: 25,393,615 (GRCm39) |
D72G |
possibly damaging |
Het |
| Fhad1 |
T |
A |
4: 141,618,263 (GRCm39) |
K1388* |
probably null |
Het |
| Fzd7 |
A |
G |
1: 59,523,004 (GRCm39) |
M296V |
probably benign |
Het |
| Gdpd3 |
T |
C |
7: 126,370,336 (GRCm39) |
I257T |
probably benign |
Het |
| Glt28d2 |
T |
G |
3: 85,779,248 (GRCm39) |
D75A |
possibly damaging |
Het |
| Gm14295 |
G |
A |
2: 176,502,937 (GRCm39) |
|
probably benign |
Het |
| Gm28729 |
A |
G |
9: 96,401,494 (GRCm39) |
I98T |
probably damaging |
Het |
| Gm4924 |
C |
T |
10: 82,213,065 (GRCm39) |
Q288* |
probably null |
Het |
| Gpr150 |
T |
C |
13: 76,204,676 (GRCm39) |
M90V |
probably damaging |
Het |
| Ireb2 |
G |
A |
9: 54,794,656 (GRCm39) |
V331I |
probably benign |
Het |
| Lpcat2b |
A |
T |
5: 107,581,760 (GRCm39) |
Y363F |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,918,852 (GRCm39) |
I410V |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,537 (GRCm39) |
E58G |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,523,671 (GRCm39) |
D603V |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,046,905 (GRCm39) |
Y1149F |
probably damaging |
Het |
| Nrg1 |
A |
G |
8: 32,308,508 (GRCm39) |
Y503H |
probably damaging |
Het |
| Nxpe4 |
C |
T |
9: 48,304,104 (GRCm39) |
P64S |
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,349,811 (GRCm39) |
T219S |
unknown |
Het |
| Plagl1 |
T |
C |
10: 13,002,975 (GRCm39) |
L81P |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,311,042 (GRCm39) |
V481A |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,866,174 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Potefam1 |
A |
G |
2: 111,058,293 (GRCm39) |
Y167H |
probably benign |
Het |
| Ppargc1a |
C |
A |
5: 51,631,253 (GRCm39) |
A459S |
probably damaging |
Het |
| Ppp1r13l |
A |
G |
7: 19,104,362 (GRCm39) |
D253G |
probably benign |
Het |
| Prl2c2 |
T |
A |
13: 13,176,757 (GRCm39) |
N55Y |
probably damaging |
Het |
| Prlr |
T |
C |
15: 10,328,935 (GRCm39) |
F470S |
probably benign |
Het |
| Serpina12 |
T |
C |
12: 104,004,500 (GRCm39) |
D44G |
probably benign |
Het |
| Sfxn1 |
T |
G |
13: 54,260,526 (GRCm39) |
S291R |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,446 (GRCm39) |
D224G |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,784,392 (GRCm39) |
F123S |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,849,345 (GRCm39) |
V937A |
probably benign |
Het |
| Stox2 |
T |
A |
8: 47,645,055 (GRCm39) |
M802L |
probably benign |
Het |
| Tmem150a |
G |
A |
6: 72,333,728 (GRCm39) |
R30H |
probably benign |
Het |
| Tmem210 |
G |
A |
2: 25,178,776 (GRCm39) |
|
probably null |
Het |
| Tor3a |
T |
C |
1: 156,484,143 (GRCm39) |
N269S |
possibly damaging |
Het |
| Trp63 |
A |
C |
16: 25,703,603 (GRCm39) |
N423T |
probably benign |
Het |
| Vmn2r60 |
A |
G |
7: 41,785,045 (GRCm39) |
I86V |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,348 (GRCm39) |
I333V |
probably benign |
Het |
| Vwa7 |
C |
A |
17: 35,240,186 (GRCm39) |
H385N |
possibly damaging |
Het |
| Wdr1 |
T |
C |
5: 38,687,014 (GRCm39) |
|
probably null |
Het |
| Wdr31 |
A |
G |
4: 62,381,661 (GRCm39) |
Y57H |
probably damaging |
Het |
| Zbtb44 |
T |
A |
9: 30,964,678 (GRCm39) |
H29Q |
probably damaging |
Het |
| Zfp532 |
T |
A |
18: 65,757,509 (GRCm39) |
S481T |
probably damaging |
Het |
| Zfp955b |
G |
T |
17: 33,521,084 (GRCm39) |
R184S |
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 |
|
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'- GACGTGTACGACATAAGCACCAG -3'
(R):5'- TCAGAGGTGTTCAATGGGAC -3'
Sequencing Primer
(F):5'- CGACATAAGCACCAGTTATTATGTG -3'
(R):5'- GGGACACTCAAAATTTGTAACAATAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation