Incidental Mutation 'R1614:Zbtb18'
| ID |
176976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb18
|
| Ensembl Gene |
ENSMUSG00000063659 |
| Gene Name |
zinc finger and BTB domain containing 18 |
| Synonyms |
RP58, Zfp238 |
| MMRRC Submission |
039651-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
177269917-177278330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 177274736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 23
(L23P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077225]
[ENSMUST00000094276]
[ENSMUST00000192699]
[ENSMUST00000192851]
[ENSMUST00000193440]
[ENSMUST00000193480]
[ENSMUST00000195549]
[ENSMUST00000195002]
[ENSMUST00000195612]
[ENSMUST00000195388]
[ENSMUST00000194319]
|
| AlphaFold |
Q9WUK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077225
AA Change: L23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076463
Gene: ENSMUSG00000063659
AA Change: L23P
| 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 damaging
Transcript: ENSMUST00000094276
AA Change: L32P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091831
Gene: ENSMUSG00000063659
AA Change: L32P
| 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 damaging
Transcript: ENSMUST00000192851
AA Change: L23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142256
Gene: ENSMUSG00000063659
AA Change: L23P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193440
AA Change: L23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141337
Gene: ENSMUSG00000063659
AA Change: L23P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193480
AA Change: L32P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141663
Gene: ENSMUSG00000063659
AA Change: L32P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195549
AA Change: L23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142073
Gene: ENSMUSG00000063659
AA Change: L23P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195002
AA Change: L23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195612
AA Change: L23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141724
Gene: ENSMUSG00000063659
AA Change: L23P
| 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 damaging
Transcript: ENSMUST00000195388
AA Change: L23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141694
Gene: ENSMUSG00000063659
AA Change: L23P
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194269
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194319
|
| Meta Mutation Damage Score |
0.9668 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl9 |
A |
G |
5: 77,158,412 (GRCm39) |
T165A |
probably benign |
Het |
| Atpaf1 |
A |
T |
4: 115,653,954 (GRCm39) |
K201N |
possibly damaging |
Het |
| Cacna1b |
G |
T |
2: 24,580,819 (GRCm39) |
Q676K |
possibly damaging |
Het |
| Ccdc88c |
A |
T |
12: 100,879,243 (GRCm39) |
H1959Q |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,985 (GRCm39) |
D808G |
probably damaging |
Het |
| Chct1 |
T |
G |
11: 85,063,690 (GRCm39) |
S28A |
possibly damaging |
Het |
| Chtf18 |
A |
G |
17: 25,946,064 (GRCm39) |
L42P |
probably benign |
Het |
| Cox7c |
A |
G |
13: 86,193,904 (GRCm39) |
F40L |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,949,517 (GRCm39) |
V442I |
probably benign |
Het |
| Dst |
T |
C |
1: 34,314,344 (GRCm39) |
F4198S |
probably damaging |
Het |
| Fam13a |
T |
A |
6: 58,917,169 (GRCm39) |
D569V |
probably damaging |
Het |
| Gm6741 |
T |
A |
17: 91,544,424 (GRCm39) |
H62Q |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,250,451 (GRCm39) |
T172A |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,751,172 (GRCm39) |
S1013P |
probably damaging |
Het |
| Insl5 |
A |
T |
4: 102,883,846 (GRCm39) |
L25* |
probably null |
Het |
| Ipo13 |
A |
G |
4: 117,761,815 (GRCm39) |
S462P |
probably benign |
Het |
| Itgb1 |
G |
A |
8: 129,446,546 (GRCm39) |
C401Y |
probably damaging |
Het |
| Kcnh7 |
G |
T |
2: 62,680,948 (GRCm39) |
A213E |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,510,511 (GRCm39) |
N164D |
possibly damaging |
Het |
| Nop53 |
A |
G |
7: 15,679,890 (GRCm39) |
V30A |
probably benign |
Het |
| Or1j17 |
T |
G |
2: 36,578,321 (GRCm39) |
Y102* |
probably null |
Het |
| Or4a73 |
T |
A |
2: 89,421,040 (GRCm39) |
I140L |
possibly damaging |
Het |
| Or4f54 |
T |
A |
2: 111,123,411 (GRCm39) |
V266E |
probably damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,862 (GRCm39) |
C189S |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,492,620 (GRCm39) |
R918C |
probably damaging |
Het |
| Pecam1 |
T |
C |
11: 106,571,905 (GRCm39) |
D554G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,634,199 (GRCm39) |
I744V |
possibly damaging |
Het |
| Pop1 |
C |
A |
15: 34,530,356 (GRCm39) |
A918D |
possibly damaging |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prmt3 |
A |
T |
7: 49,476,467 (GRCm39) |
I359F |
possibly damaging |
Het |
| Proz |
G |
A |
8: 13,116,904 (GRCm39) |
C152Y |
probably damaging |
Het |
| Ptgfr |
A |
C |
3: 151,507,416 (GRCm39) |
Y316D |
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,230,532 (GRCm39) |
S1011Y |
probably damaging |
Het |
| Rnf43 |
C |
T |
11: 87,622,485 (GRCm39) |
R529* |
probably null |
Het |
| Slc17a6 |
G |
A |
7: 51,296,025 (GRCm39) |
|
probably benign |
Het |
| Slc25a19 |
A |
T |
11: 115,507,449 (GRCm39) |
C224* |
probably null |
Het |
| Smarcd3 |
A |
G |
5: 24,799,874 (GRCm39) |
S299P |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,528,156 (GRCm39) |
F1471S |
possibly damaging |
Het |
| Strada |
A |
C |
11: 106,059,145 (GRCm39) |
V211G |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,574,080 (GRCm39) |
E68G |
probably damaging |
Het |
| Vmn2r27 |
T |
G |
6: 124,200,893 (GRCm39) |
I355L |
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,870,946 (GRCm39) |
M779K |
possibly damaging |
Het |
| Zfp112 |
G |
T |
7: 23,826,024 (GRCm39) |
C664F |
probably damaging |
Het |
| Zfp955a |
A |
T |
17: 33,461,306 (GRCm39) |
N275K |
possibly damaging |
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 |
|
R0085:Zbtb18
|
UTSW |
1 |
177,275,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- TGTAACTCTCCACCACTAAGGCGG -3'
(R):5'- CATCTTCATCACTGGGCAGGTCAC -3'
Sequencing Primer
(F):5'- CGGATATTTTTTAAAGTGGCGAC -3'
(R):5'- CCTCAATGGGCAAGTCTTTGAAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation