Incidental Mutation 'R4282:Zbtb18'
ID |
322926 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb18
|
Ensembl Gene |
ENSMUSG00000063659 |
Gene Name |
zinc finger and BTB domain containing 18 |
Synonyms |
RP58, Zfp238 |
MMRRC Submission |
041650-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4282 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
177269917-177278330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 177275045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 126
(D126G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077225]
[ENSMUST00000094276]
[ENSMUST00000192699]
[ENSMUST00000192851]
[ENSMUST00000193440]
[ENSMUST00000195612]
[ENSMUST00000193480]
[ENSMUST00000195388]
[ENSMUST00000195549]
[ENSMUST00000195002]
[ENSMUST00000194319]
|
AlphaFold |
Q9WUK6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077225
AA Change: D126G
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000076463 Gene: ENSMUSG00000063659 AA Change: D126G
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: D135G
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000091831 Gene: ENSMUSG00000063659 AA Change: D135G
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: D126G
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000142256 Gene: ENSMUSG00000063659 AA Change: D126G
Domain | Start | End | E-Value | Type |
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193440
AA Change: D126G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141337 Gene: ENSMUSG00000063659 AA Change: D126G
Domain | Start | End | E-Value | Type |
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195612
AA Change: D126G
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000141724 Gene: ENSMUSG00000063659 AA Change: D126G
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: ENSMUST00000193480
AA Change: D135G
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000141663 Gene: ENSMUSG00000063659 AA Change: D135G
Domain | Start | End | E-Value | Type |
BTB
|
33 |
130 |
1.6e-24 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195388
AA Change: D126G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141694 Gene: ENSMUSG00000063659 AA Change: D126G
Domain | Start | End | E-Value | Type |
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195549
AA Change: D126G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142073 Gene: ENSMUSG00000063659 AA Change: D126G
Domain | Start | End | E-Value | Type |
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194269
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195002
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194319
|
Meta Mutation Damage Score |
0.1336 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (59/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700092K14Rik |
A |
C |
11: 114,089,970 (GRCm39) |
|
noncoding transcript |
Het |
Abca17 |
G |
T |
17: 24,518,034 (GRCm39) |
D758E |
possibly damaging |
Het |
Adam28 |
A |
G |
14: 68,885,155 (GRCm39) |
V65A |
possibly damaging |
Het |
Adgra2 |
T |
A |
8: 27,609,272 (GRCm39) |
M616K |
possibly damaging |
Het |
Aldh3b2 |
A |
G |
19: 4,027,636 (GRCm39) |
D59G |
probably benign |
Het |
Ankrd28 |
A |
G |
14: 31,467,182 (GRCm39) |
V260A |
possibly damaging |
Het |
Bbs7 |
A |
G |
3: 36,627,720 (GRCm39) |
V689A |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,302,296 (GRCm39) |
F1653S |
probably benign |
Het |
Cd55b |
T |
C |
1: 130,344,596 (GRCm39) |
D213G |
probably damaging |
Het |
Colgalt2 |
G |
A |
1: 152,344,282 (GRCm39) |
V115M |
probably damaging |
Het |
Ddx60 |
T |
C |
8: 62,447,427 (GRCm39) |
V1138A |
probably damaging |
Het |
Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
Dus2 |
C |
T |
8: 106,775,286 (GRCm39) |
A271V |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
Fancg |
T |
C |
4: 43,003,830 (GRCm39) |
D533G |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,340,770 (GRCm39) |
V1021A |
probably benign |
Het |
Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
Hspb6 |
T |
C |
7: 30,252,889 (GRCm39) |
S44P |
possibly damaging |
Het |
Jsrp1 |
T |
C |
10: 80,646,190 (GRCm39) |
I50V |
probably benign |
Het |
Kansl1 |
T |
C |
11: 104,269,515 (GRCm39) |
N476S |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,722,946 (GRCm39) |
D810G |
probably damaging |
Het |
Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
Maml2 |
C |
A |
9: 13,531,406 (GRCm39) |
L207I |
possibly damaging |
Het |
Myo3a |
A |
T |
2: 22,345,089 (GRCm39) |
E508D |
probably benign |
Het |
Nav1 |
T |
A |
1: 135,385,651 (GRCm39) |
|
probably benign |
Het |
Ndrg3 |
A |
T |
2: 156,790,214 (GRCm39) |
C90S |
possibly damaging |
Het |
Orc1 |
A |
G |
4: 108,463,471 (GRCm39) |
S663G |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,583,195 (GRCm39) |
L767H |
probably damaging |
Het |
Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
Por |
C |
A |
5: 135,744,815 (GRCm39) |
T26K |
possibly damaging |
Het |
Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
Qsox1 |
T |
A |
1: 155,662,671 (GRCm39) |
|
probably null |
Het |
Rad51ap2 |
T |
A |
12: 11,506,465 (GRCm39) |
V129D |
probably benign |
Het |
Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
Rxfp2 |
T |
G |
5: 149,993,735 (GRCm39) |
V585G |
possibly damaging |
Het |
Sftpd |
G |
A |
14: 40,894,537 (GRCm39) |
T294I |
probably benign |
Het |
Sh3gl1 |
A |
G |
17: 56,343,456 (GRCm39) |
S2P |
probably damaging |
Het |
Slc38a10 |
A |
T |
11: 120,020,090 (GRCm39) |
F321I |
probably damaging |
Het |
Slc4a10 |
T |
A |
2: 62,074,687 (GRCm39) |
|
probably null |
Het |
Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
Slit1 |
T |
C |
19: 41,602,856 (GRCm39) |
E985G |
probably benign |
Het |
Smurf1 |
C |
T |
5: 144,819,403 (GRCm39) |
E575K |
probably damaging |
Het |
Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
Tmem182 |
T |
C |
1: 40,877,530 (GRCm39) |
I135T |
probably damaging |
Het |
Tmem67 |
T |
C |
4: 12,073,922 (GRCm39) |
Y298C |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,462,641 (GRCm39) |
C1026R |
probably damaging |
Het |
Troap |
A |
G |
15: 98,976,713 (GRCm39) |
D279G |
probably benign |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,452 (GRCm39) |
T109A |
probably benign |
Het |
Vmn2r25 |
A |
T |
6: 123,800,606 (GRCm39) |
C579S |
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 |
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 |
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'- TTTACAAGGACCAGCTGGAC -3'
(R):5'- ATCGCATCCACATGTTCCCAG -3'
Sequencing Primer
(F):5'- TCTGAACAGCGACATTGTGAC -3'
(R):5'- ACATGTTCCCAGGCTCAGCTG -3'
|
Posted On |
2015-06-20 |