Incidental Mutation 'R8255:Zbtb18'
| ID |
640586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb18
|
| Ensembl Gene |
ENSMUSG00000063659 |
| Gene Name |
zinc finger and BTB domain containing 18 |
| Synonyms |
RP58, Zfp238 |
| MMRRC Submission |
067681-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8255 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
177269917-177278330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 177275003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 121
(V121A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077225]
[ENSMUST00000094276]
[ENSMUST00000192699]
[ENSMUST00000192851]
[ENSMUST00000193440]
[ENSMUST00000193480]
[ENSMUST00000194319]
[ENSMUST00000195002]
[ENSMUST00000195388]
[ENSMUST00000195549]
[ENSMUST00000195612]
|
| AlphaFold |
Q9WUK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077225
AA Change: V112A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076463
Gene: ENSMUSG00000063659
AA Change: V112A
| 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: V121A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091831
Gene: ENSMUSG00000063659
AA Change: V121A
| 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 |
probably benign
Transcript: ENSMUST00000192699
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192851
AA Change: V112A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142256
Gene: ENSMUSG00000063659
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193440
AA Change: V112A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141337
Gene: ENSMUSG00000063659
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193480
AA Change: V121A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141663
Gene: ENSMUSG00000063659
AA Change: V121A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194319
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195002
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195388
AA Change: V112A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141694
Gene: ENSMUSG00000063659
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195549
AA Change: V112A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142073
Gene: ENSMUSG00000063659
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195612
AA Change: V112A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141724
Gene: ENSMUSG00000063659
AA Change: V112A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (46/46) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,415,850 (GRCm39) |
T648S |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,359,058 (GRCm39) |
I583F |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,948,926 (GRCm39) |
M1732L |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,740,398 (GRCm39) |
S1742P |
unknown |
Het |
| Birc6 |
G |
A |
17: 74,969,775 (GRCm39) |
A4273T |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,463,880 (GRCm39) |
T1450A |
probably damaging |
Het |
| Dhx32 |
T |
C |
7: 133,339,120 (GRCm39) |
N305S |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,698,589 (GRCm39) |
S2174P |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,161,101 (GRCm39) |
I3210F |
probably benign |
Het |
| Gm12888 |
A |
G |
4: 121,181,994 (GRCm39) |
S33P |
probably damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,217,438 (GRCm39) |
L292P |
probably damaging |
Het |
| Gzmg |
T |
A |
14: 56,395,753 (GRCm39) |
R69W |
probably damaging |
Het |
| Hat1 |
A |
G |
2: 71,239,347 (GRCm39) |
D40G |
probably damaging |
Het |
| Hcrtr2 |
T |
A |
9: 76,140,203 (GRCm39) |
I362F |
probably damaging |
Het |
| Hmmr |
T |
C |
11: 40,598,262 (GRCm39) |
E650G |
probably damaging |
Het |
| Ifi35 |
A |
T |
11: 101,348,608 (GRCm39) |
M180L |
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,451,619 (GRCm39) |
H162Q |
probably benign |
Het |
| Il1rl2 |
T |
C |
1: 40,404,471 (GRCm39) |
F531L |
probably damaging |
Het |
| Ipcef1 |
T |
G |
10: 6,870,007 (GRCm39) |
K182T |
probably benign |
Het |
| Med27 |
C |
A |
2: 29,414,376 (GRCm39) |
|
probably null |
Het |
| Med31 |
G |
A |
11: 72,106,294 (GRCm39) |
|
probably benign |
Het |
| Moxd1 |
A |
G |
10: 24,099,700 (GRCm39) |
T67A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,985,848 (GRCm39) |
E1266G |
probably damaging |
Het |
| Nkx2-4 |
C |
A |
2: 146,925,924 (GRCm39) |
E313* |
probably null |
Het |
| Nol6 |
G |
T |
4: 41,120,168 (GRCm39) |
R487S |
probably benign |
Het |
| Or2v1 |
C |
A |
11: 49,025,307 (GRCm39) |
A96D |
probably benign |
Het |
| Or2z8 |
T |
A |
8: 72,811,607 (GRCm39) |
F28I |
possibly damaging |
Het |
| Or4k15c |
C |
T |
14: 50,321,329 (GRCm39) |
V270I |
noncoding transcript |
Het |
| Or5p51 |
A |
G |
7: 107,444,368 (GRCm39) |
S191P |
probably damaging |
Het |
| Rnf135 |
A |
G |
11: 80,084,713 (GRCm39) |
D162G |
probably benign |
Het |
| Sdr42e1 |
G |
T |
8: 118,390,502 (GRCm39) |
N46K |
probably benign |
Het |
| Skor2 |
T |
C |
18: 76,946,664 (GRCm39) |
S129P |
unknown |
Het |
| Slc7a11 |
A |
T |
3: 50,382,177 (GRCm39) |
I190N |
probably damaging |
Het |
| Smc5 |
A |
T |
19: 23,186,290 (GRCm39) |
F1056I |
|
Het |
| Son |
A |
T |
16: 91,461,824 (GRCm39) |
Q2243L |
unknown |
Het |
| Sult1a1 |
T |
A |
7: 126,274,280 (GRCm39) |
I101F |
possibly damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,655,747 (GRCm39) |
I77M |
probably benign |
Het |
| Tas1r1 |
A |
T |
4: 152,116,774 (GRCm39) |
S287T |
probably benign |
Het |
| Thbs3 |
A |
C |
3: 89,132,565 (GRCm39) |
T836P |
probably benign |
Het |
| Tlcd3b |
G |
A |
7: 126,423,275 (GRCm39) |
V6M |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
A |
T |
4: 145,041,653 (GRCm39) |
M1K |
probably null |
Het |
| Vmn1r121 |
T |
G |
7: 20,831,679 (GRCm39) |
N254H |
probably benign |
Het |
| Vmn1r179 |
C |
T |
7: 23,628,436 (GRCm39) |
A209V |
probably benign |
Het |
| Wdr31 |
A |
T |
4: 62,381,634 (GRCm39) |
S66T |
probably benign |
Het |
| Zfp30 |
T |
A |
7: 29,488,826 (GRCm39) |
M82K |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,765,955 (GRCm39) |
Q1494R |
probably benign |
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 |
|
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 |
|
|
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'- TTTACAAGGACCAGCTGGAC -3'
(R):5'- ATCCACATGTTCCCAGGCTC -3'
Sequencing Primer
(F):5'- GCTGGACAAAAGAGACATTGTTCATC -3'
(R):5'- ACATGTTCCCAGGCTCAGCTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation