Incidental Mutation 'R0085:Zbtb18'
| ID |
19835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb18
|
| Ensembl Gene |
ENSMUSG00000063659 |
| Gene Name |
zinc finger and BTB domain containing 18 |
| Synonyms |
RP58, Zfp238 |
| MMRRC Submission |
038372-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0085 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
177269917-177278330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 177275501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 287
(A287V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077225]
[ENSMUST00000094276]
[ENSMUST00000192699]
[ENSMUST00000192851]
[ENSMUST00000193440]
[ENSMUST00000193480]
[ENSMUST00000195612]
[ENSMUST00000195002]
[ENSMUST00000195549]
[ENSMUST00000194319]
[ENSMUST00000195388]
|
| AlphaFold |
Q9WUK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077225
AA Change: A278V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000076463
Gene: ENSMUSG00000063659
AA Change: A278V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
2.55e-22 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
466 |
489 |
1.18e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094276
AA Change: A287V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000091831
Gene: ENSMUSG00000063659
AA Change: A287V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
2.55e-22 |
SMART |
|
ZnF_C2H2
|
379 |
401 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
419 |
441 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
447 |
469 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
475 |
498 |
1.18e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180591
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192851
|
| SMART Domains |
Protein: ENSMUSP00000142256
Gene: ENSMUSG00000063659
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193440
|
| SMART Domains |
Protein: ENSMUSP00000141337
Gene: ENSMUSG00000063659
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193480
|
| SMART Domains |
Protein: ENSMUSP00000141663
Gene: ENSMUSG00000063659
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195612
AA Change: A278V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141724
Gene: ENSMUSG00000063659
AA Change: A278V
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
2.55e-22 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
1.01e-1 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
466 |
489 |
1.18e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194269
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195549
|
| SMART Domains |
Protein: ENSMUSP00000142073
Gene: ENSMUSG00000063659
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194319
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195388
|
| SMART Domains |
Protein: ENSMUSP00000141694
Gene: ENSMUSG00000063659
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Meta Mutation Damage Score |
0.0580 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
| Validation Efficiency |
95% (71/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, cortical and hippocampal hypoplasia and laminar disorganization, and abnormal neuron apoptosis and cell cycling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
A |
G |
5: 121,742,357 (GRCm39) |
I417T |
possibly damaging |
Het |
| Adcy9 |
T |
C |
16: 4,106,088 (GRCm39) |
T1009A |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,490,425 (GRCm39) |
|
probably benign |
Het |
| Bpi |
T |
A |
2: 158,115,072 (GRCm39) |
L311* |
probably null |
Het |
| Brd2 |
A |
C |
17: 34,332,233 (GRCm39) |
F294L |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,209,850 (GRCm39) |
E804D |
probably benign |
Het |
| Cd209g |
A |
T |
8: 4,184,785 (GRCm39) |
|
probably benign |
Het |
| Cfi |
A |
G |
3: 129,668,635 (GRCm39) |
I554V |
probably benign |
Het |
| Clvs2 |
G |
C |
10: 33,498,542 (GRCm39) |
S129R |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,268,268 (GRCm39) |
S2897P |
probably damaging |
Het |
| Efcab7 |
T |
C |
4: 99,761,877 (GRCm39) |
|
probably benign |
Het |
| Fbxo2 |
T |
C |
4: 148,249,367 (GRCm39) |
|
probably null |
Het |
| Fgfr2 |
C |
A |
7: 129,797,993 (GRCm39) |
R400L |
probably damaging |
Het |
| Hsd17b14 |
T |
C |
7: 45,205,834 (GRCm39) |
|
probably benign |
Het |
| Il23r |
T |
C |
6: 67,463,206 (GRCm39) |
N96D |
probably damaging |
Het |
| Ints13 |
T |
A |
6: 146,476,285 (GRCm39) |
|
probably benign |
Het |
| Khdc4 |
T |
A |
3: 88,619,046 (GRCm39) |
S583R |
probably damaging |
Het |
| Lig1 |
A |
G |
7: 13,041,495 (GRCm39) |
I776V |
possibly damaging |
Het |
| Madd |
T |
C |
2: 90,993,083 (GRCm39) |
I997V |
probably benign |
Het |
| Mgat4b |
C |
T |
11: 50,121,826 (GRCm39) |
H116Y |
possibly damaging |
Het |
| Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
| Myo5b |
A |
C |
18: 74,834,751 (GRCm39) |
D937A |
probably benign |
Het |
| Nox3 |
T |
C |
17: 3,685,556 (GRCm39) |
N584S |
probably benign |
Het |
| Ogfr |
A |
G |
2: 180,232,830 (GRCm39) |
|
probably null |
Het |
| Or11g25 |
T |
A |
14: 50,723,791 (GRCm39) |
M292K |
probably benign |
Het |
| Or13p3 |
T |
C |
4: 118,567,078 (GRCm39) |
V158A |
probably benign |
Het |
| Or8b1b |
T |
C |
9: 38,375,958 (GRCm39) |
I207T |
probably benign |
Het |
| Osbpl6 |
G |
T |
2: 76,423,758 (GRCm39) |
V728F |
probably benign |
Het |
| Picalm |
T |
A |
7: 89,831,525 (GRCm39) |
S453T |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,228,354 (GRCm39) |
L310P |
probably damaging |
Het |
| Pitrm1 |
C |
T |
13: 6,599,604 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,805,197 (GRCm39) |
F3250L |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,193,373 (GRCm39) |
R376* |
probably null |
Het |
| Pnma8b |
A |
T |
7: 16,679,474 (GRCm39) |
S153C |
unknown |
Het |
| Rp1l1 |
C |
T |
14: 64,259,744 (GRCm39) |
R129W |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,690,108 (GRCm39) |
V1147A |
probably damaging |
Het |
| Sema3d |
G |
A |
5: 12,620,953 (GRCm39) |
V520I |
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,427,136 (GRCm39) |
|
probably benign |
Het |
| Slc13a2 |
A |
G |
11: 78,297,694 (GRCm39) |
V58A |
probably damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,254,510 (GRCm39) |
|
probably benign |
Het |
| Slc4a10 |
G |
A |
2: 62,074,690 (GRCm39) |
|
probably benign |
Het |
| Tab1 |
G |
T |
15: 80,040,094 (GRCm39) |
A305S |
probably benign |
Het |
| Tmem30a |
T |
A |
9: 79,678,576 (GRCm39) |
T327S |
probably benign |
Het |
| Tpr |
A |
C |
1: 150,293,164 (GRCm39) |
E863A |
possibly damaging |
Het |
| Upk3bl |
A |
G |
5: 136,088,969 (GRCm39) |
N161D |
probably benign |
Het |
| Ush1c |
T |
A |
7: 45,874,979 (GRCm39) |
I131F |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,800,200 (GRCm39) |
R1975S |
possibly damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,256 (GRCm39) |
T424A |
probably benign |
Het |
| Zfp791 |
G |
T |
8: 85,838,862 (GRCm39) |
Y56* |
probably null |
Het |
|
| Other mutations in Zbtb18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01603:Zbtb18
|
APN |
1 |
177,275,549 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01967:Zbtb18
|
APN |
1 |
177,275,348 (GRCm39) |
missense |
probably benign |
0.25 |
|
PIT4434001:Zbtb18
|
UTSW |
1 |
177,275,989 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0119:Zbtb18
|
UTSW |
1 |
177,275,723 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0309:Zbtb18
|
UTSW |
1 |
177,276,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1614:Zbtb18
|
UTSW |
1 |
177,274,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1660:Zbtb18
|
UTSW |
1 |
177,275,329 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1676:Zbtb18
|
UTSW |
1 |
177,274,913 (GRCm39) |
splice site |
probably null |
|
|
R1750:Zbtb18
|
UTSW |
1 |
177,275,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2365:Zbtb18
|
UTSW |
1 |
177,275,723 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4282:Zbtb18
|
UTSW |
1 |
177,275,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4497:Zbtb18
|
UTSW |
1 |
177,274,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4542:Zbtb18
|
UTSW |
1 |
177,276,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4678:Zbtb18
|
UTSW |
1 |
177,275,285 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5450:Zbtb18
|
UTSW |
1 |
177,274,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Zbtb18
|
UTSW |
1 |
177,276,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Zbtb18
|
UTSW |
1 |
177,275,446 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5879:Zbtb18
|
UTSW |
1 |
177,275,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Zbtb18
|
UTSW |
1 |
177,275,141 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6641:Zbtb18
|
UTSW |
1 |
177,275,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7088:Zbtb18
|
UTSW |
1 |
177,274,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7779:Zbtb18
|
UTSW |
1 |
177,274,505 (GRCm39) |
intron |
probably benign |
|
|
R8255:Zbtb18
|
UTSW |
1 |
177,275,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Zbtb18
|
UTSW |
1 |
177,274,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8895:Zbtb18
|
UTSW |
1 |
177,276,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9494:Zbtb18
|
UTSW |
1 |
177,275,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9606:Zbtb18
|
UTSW |
1 |
177,274,989 (GRCm39) |
nonsense |
probably null |
|
|
R9610:Zbtb18
|
UTSW |
1 |
177,275,341 (GRCm39) |
missense |
probably null |
0.99 |
|
Z1177:Zbtb18
|
UTSW |
1 |
177,275,381 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGACCTGCCCAGTGATGAAGATG -3'
(R):5'- TCCAGTTCCCTTAAGACCGAGTCC -3'
Sequencing Primer
(F):5'- GCAGCTCAACAGAGTCTTTGTC -3'
(R):5'- TTAAGACCGAGTCCTCCCTCAG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation