Incidental Mutation 'IGL01967:Zbtb18'
ID |
181581 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zbtb18
|
Ensembl Gene |
ENSMUSG00000063659 |
Gene Name |
zinc finger and BTB domain containing 18 |
Synonyms |
RP58, Zfp238 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01967
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
177269917-177278330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 177275348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 236
(V236D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091831
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077225]
[ENSMUST00000094276]
[ENSMUST00000192699]
[ENSMUST00000192851]
[ENSMUST00000193440]
[ENSMUST00000193480]
[ENSMUST00000195612]
[ENSMUST00000195002]
[ENSMUST00000195549]
[ENSMUST00000195388]
[ENSMUST00000194319]
|
AlphaFold |
Q9WUK6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077225
AA Change: V227D
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000076463 Gene: ENSMUSG00000063659 AA Change: V227D
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: V236D
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000091831 Gene: ENSMUSG00000063659 AA Change: V236D
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
AA Change: V227D
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000142256 Gene: ENSMUSG00000063659 AA Change: V227D
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: V227D
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000141724 Gene: ENSMUSG00000063659 AA Change: V227D
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: ENSMUST00000195388
|
SMART Domains |
Protein: ENSMUSP00000141694 Gene: ENSMUSG00000063659
Domain | Start | End | E-Value | Type |
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194319
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,831,707 (GRCm39) |
L1215P |
probably damaging |
Het |
Abce1 |
T |
C |
8: 80,412,620 (GRCm39) |
D569G |
probably damaging |
Het |
Adnp |
A |
G |
2: 168,025,339 (GRCm39) |
V652A |
possibly damaging |
Het |
Bco2 |
A |
G |
9: 50,446,809 (GRCm39) |
I448T |
probably damaging |
Het |
Cdh20 |
T |
A |
1: 104,868,762 (GRCm39) |
H84Q |
probably damaging |
Het |
Cep126 |
A |
G |
9: 8,095,209 (GRCm39) |
|
probably null |
Het |
Clca4b |
A |
G |
3: 144,633,951 (GRCm39) |
|
probably benign |
Het |
Fat2 |
T |
A |
11: 55,202,649 (GRCm39) |
N142Y |
probably damaging |
Het |
Gnaq |
C |
T |
19: 16,355,524 (GRCm39) |
R247C |
probably damaging |
Het |
Itprid1 |
A |
T |
6: 55,874,896 (GRCm39) |
E282V |
probably damaging |
Het |
Klf3 |
T |
C |
5: 64,979,430 (GRCm39) |
S91P |
probably damaging |
Het |
Lmtk2 |
C |
A |
5: 144,119,597 (GRCm39) |
H1353N |
probably benign |
Het |
Magi1 |
G |
T |
6: 93,685,115 (GRCm39) |
H526Q |
probably damaging |
Het |
Mecr |
A |
G |
4: 131,589,192 (GRCm39) |
|
probably null |
Het |
Mllt6 |
T |
C |
11: 97,565,603 (GRCm39) |
F630L |
probably damaging |
Het |
Nav1 |
T |
C |
1: 135,464,983 (GRCm39) |
N274S |
probably damaging |
Het |
Nmi |
T |
C |
2: 51,846,052 (GRCm39) |
|
probably null |
Het |
Or7e170 |
A |
G |
9: 19,794,885 (GRCm39) |
S239P |
probably damaging |
Het |
Perm1 |
G |
T |
4: 156,302,118 (GRCm39) |
G221W |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,303,524 (GRCm39) |
N1681K |
possibly damaging |
Het |
Ptch2 |
T |
C |
4: 116,971,430 (GRCm39) |
|
probably benign |
Het |
Sc5d |
A |
T |
9: 42,169,930 (GRCm39) |
L97Q |
possibly damaging |
Het |
Scaf8 |
T |
A |
17: 3,247,213 (GRCm39) |
N845K |
possibly damaging |
Het |
Sema7a |
A |
G |
9: 57,863,678 (GRCm39) |
K284E |
probably damaging |
Het |
Slc16a3 |
G |
A |
11: 120,847,864 (GRCm39) |
V351M |
probably damaging |
Het |
Strn3 |
A |
G |
12: 51,699,596 (GRCm39) |
I192T |
probably damaging |
Het |
Syne2 |
A |
C |
12: 75,988,077 (GRCm39) |
D1745A |
probably damaging |
Het |
Ttc13 |
T |
C |
8: 125,439,386 (GRCm39) |
T123A |
probably damaging |
Het |
Zfp438 |
T |
C |
18: 5,214,049 (GRCm39) |
E303G |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,786,109 (GRCm39) |
Q146R |
probably damaging |
Het |
Zfp972 |
A |
T |
2: 177,563,495 (GRCm39) |
N38K |
probably 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 |
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 |
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 |
|
Posted On |
2014-05-07 |