Incidental Mutation 'R9494:Zbtb18'
ID |
717087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb18
|
Ensembl Gene |
ENSMUSG00000063659 |
Gene Name |
zinc finger and BTB domain containing 18 |
Synonyms |
RP58, Zfp238 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9494 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
177269917-177278330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 177275648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 327
(D327V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141724
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077225]
[ENSMUST00000094276]
[ENSMUST00000192699]
[ENSMUST00000192851]
[ENSMUST00000193440]
[ENSMUST00000193480]
[ENSMUST00000195612]
[ENSMUST00000194319]
[ENSMUST00000195002]
[ENSMUST00000195388]
[ENSMUST00000195549]
|
AlphaFold |
Q9WUK6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077225
AA Change: D327V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000076463 Gene: ENSMUSG00000063659 AA Change: D327V
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: D336V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000091831 Gene: ENSMUSG00000063659 AA Change: D336V
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 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: D327V
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000141724 Gene: ENSMUSG00000063659 AA Change: D327V
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: ENSMUST00000194319
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195002
|
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: ENSMUST00000195549
|
SMART Domains |
Protein: ENSMUSP00000142073 Gene: ENSMUSG00000063659
Domain | Start | End | E-Value | Type |
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2 |
T |
C |
1: 59,206,664 (GRCm39) |
D1593G |
probably damaging |
Het |
Atad2b |
C |
A |
12: 5,081,852 (GRCm39) |
P1254T |
probably benign |
Het |
Brsk2 |
C |
T |
7: 141,555,955 (GRCm39) |
R716C |
possibly damaging |
Het |
Bzw2 |
T |
A |
12: 36,184,947 (GRCm39) |
M1L |
probably benign |
Het |
Cd300ld2 |
T |
A |
11: 114,901,249 (GRCm39) |
H277L |
possibly damaging |
Het |
Col6a5 |
A |
T |
9: 105,822,732 (GRCm39) |
D208E |
unknown |
Het |
Cul3 |
T |
A |
1: 80,255,169 (GRCm39) |
S544C |
probably damaging |
Het |
Enpp1 |
C |
A |
10: 24,527,234 (GRCm39) |
R651L |
probably benign |
Het |
Epha10 |
C |
T |
4: 124,808,649 (GRCm39) |
A766V |
|
Het |
Epor |
A |
G |
9: 21,870,522 (GRCm39) |
Y453H |
probably damaging |
Het |
Fam13a |
T |
C |
6: 58,930,508 (GRCm39) |
K468R |
probably benign |
Het |
Ffar4 |
C |
T |
19: 38,086,083 (GRCm39) |
A170V |
probably benign |
Het |
Fhip1a |
A |
T |
3: 85,583,565 (GRCm39) |
Y410* |
probably null |
Het |
Gm10203 |
A |
G |
6: 149,031,740 (GRCm39) |
Y15C |
unknown |
Het |
Kansl1 |
T |
C |
11: 104,247,566 (GRCm39) |
T595A |
probably benign |
Het |
Lmtk2 |
A |
T |
5: 144,037,338 (GRCm39) |
|
probably benign |
Het |
Mybl2 |
G |
A |
2: 162,917,843 (GRCm39) |
V69I |
possibly damaging |
Het |
Myo1d |
T |
C |
11: 80,375,093 (GRCm39) |
K994E |
probably benign |
Het |
Or5p75-ps1 |
C |
A |
7: 108,107,800 (GRCm39) |
T179K |
unknown |
Het |
Pcdhga10 |
A |
T |
18: 37,882,421 (GRCm39) |
R727S |
probably benign |
Het |
Pgp |
T |
A |
17: 24,689,809 (GRCm39) |
L109Q |
probably damaging |
Het |
Piwil2 |
C |
T |
14: 70,660,421 (GRCm39) |
G68D |
probably benign |
Het |
Pms2 |
T |
A |
5: 143,853,214 (GRCm39) |
I193N |
probably damaging |
Het |
Pnpla7 |
T |
A |
2: 24,942,390 (GRCm39) |
L1236* |
probably null |
Het |
Pole2 |
A |
G |
12: 69,249,731 (GRCm39) |
V489A |
possibly damaging |
Het |
Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
Rnf32 |
T |
C |
5: 29,429,145 (GRCm39) |
S241P |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,375,830 (GRCm39) |
K477I |
possibly damaging |
Het |
Stn1 |
C |
T |
19: 47,513,125 (GRCm39) |
|
probably null |
Het |
Svep1 |
A |
G |
4: 58,070,577 (GRCm39) |
V2403A |
possibly damaging |
Het |
Synrg |
T |
C |
11: 83,881,747 (GRCm39) |
M361T |
probably benign |
Het |
Tbc1d2b |
A |
T |
9: 90,152,563 (GRCm39) |
Y68N |
probably damaging |
Het |
Tbc1d4 |
A |
T |
14: 101,845,895 (GRCm39) |
M1K |
probably null |
Het |
Thsd1 |
C |
T |
8: 22,733,268 (GRCm39) |
P105L |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,904,796 (GRCm39) |
L1187P |
probably damaging |
Het |
Trio |
T |
C |
15: 27,846,843 (GRCm39) |
T1057A |
probably benign |
Het |
Tubg1 |
T |
C |
11: 101,011,724 (GRCm39) |
I77T |
probably damaging |
Het |
Txndc11 |
A |
G |
16: 10,952,156 (GRCm39) |
L73P |
probably damaging |
Het |
Uck1 |
G |
A |
2: 32,148,179 (GRCm39) |
R182* |
probably null |
Het |
Vangl1 |
T |
C |
3: 102,070,665 (GRCm39) |
S424G |
probably damaging |
Het |
Vmn2r69 |
A |
G |
7: 85,056,084 (GRCm39) |
W685R |
probably benign |
Het |
Vmn2r69 |
G |
A |
7: 85,060,768 (GRCm39) |
S272L |
probably damaging |
Het |
Zfp607b |
T |
C |
7: 27,403,092 (GRCm39) |
F516S |
probably damaging |
Het |
Zzz3 |
A |
G |
3: 152,133,468 (GRCm39) |
I175M |
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 |
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 |
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'- AGCTCTTATTTCTCTTCACAGGACG -3'
(R):5'- TCAGGTGGATCTGCAGGATG -3'
Sequencing Primer
(F):5'- TCTCTTCACAGGACGTGCTGAG -3'
(R):5'- ATCTGCAGGATGTGGGGGC -3'
|
Posted On |
2022-07-18 |