Incidental Mutation 'R9606:Zbtb18'
| ID |
723854 |
| 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 # |
R9606 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
177269917-177278330 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 177274989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 116
(Y116*)
|
| 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 null
Transcript: ENSMUST00000077225
AA Change: Y107*
|
| SMART Domains |
Protein: ENSMUSP00000076463
Gene: ENSMUSG00000063659
AA Change: Y107*
| 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 null
Transcript: ENSMUST00000094276
AA Change: Y116*
|
| SMART Domains |
Protein: ENSMUSP00000091831
Gene: ENSMUSG00000063659
AA Change: Y116*
| 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 null
Transcript: ENSMUST00000192851
AA Change: Y107*
|
| SMART Domains |
Protein: ENSMUSP00000142256
Gene: ENSMUSG00000063659
AA Change: Y107*
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193440
AA Change: Y107*
|
| SMART Domains |
Protein: ENSMUSP00000141337
Gene: ENSMUSG00000063659
AA Change: Y107*
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193480
AA Change: Y116*
|
| SMART Domains |
Protein: ENSMUSP00000141663
Gene: ENSMUSG00000063659
AA Change: Y116*
| 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 null
Transcript: ENSMUST00000195388
AA Change: Y107*
|
| SMART Domains |
Protein: ENSMUSP00000141694
Gene: ENSMUSG00000063659
AA Change: Y107*
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195549
AA Change: Y107*
|
| SMART Domains |
Protein: ENSMUSP00000142073
Gene: ENSMUSG00000063659
AA Change: Y107*
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.6e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000195612
AA Change: Y107*
|
| SMART Domains |
Protein: ENSMUSP00000141724
Gene: ENSMUSG00000063659
AA Change: Y107*
| 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: 99.7%
- 20x: 99.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
G |
8: 120,880,706 (GRCm39) |
Y286C |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,587,455 (GRCm39) |
T1657A |
|
Het |
| Ccs |
A |
T |
19: 4,882,897 (GRCm39) |
D151E |
probably benign |
Het |
| Cfap74 |
A |
G |
4: 155,509,133 (GRCm39) |
T295A |
|
Het |
| Chmp4c |
A |
T |
3: 10,432,222 (GRCm39) |
E44V |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,801,383 (GRCm39) |
K539* |
probably null |
Het |
| Dgkg |
T |
C |
16: 22,441,011 (GRCm39) |
M1V |
probably null |
Het |
| E2f2 |
T |
A |
4: 135,911,743 (GRCm39) |
Y251* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,180,093 (GRCm39) |
Y1416C |
probably damaging |
Het |
| Fgl2 |
T |
C |
5: 21,577,991 (GRCm39) |
S93P |
possibly damaging |
Het |
| Hivep3 |
C |
T |
4: 119,989,786 (GRCm39) |
T2079I |
probably damaging |
Het |
| Igfl3 |
A |
C |
7: 17,913,920 (GRCm39) |
K90T |
possibly damaging |
Het |
| Lsamp |
A |
G |
16: 41,709,292 (GRCm39) |
D74G |
probably benign |
Het |
| Mmrn2 |
C |
A |
14: 34,119,654 (GRCm39) |
T211K |
possibly damaging |
Het |
| Mov10 |
A |
T |
3: 104,707,664 (GRCm39) |
V570D |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,313,517 (GRCm39) |
Y916F |
probably benign |
Het |
| Myo10 |
CAGGTATAAAG |
CAG |
15: 25,776,401 (GRCm39) |
|
probably null |
Het |
| Ndc1 |
T |
A |
4: 107,246,686 (GRCm39) |
C370S |
probably damaging |
Het |
| Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
| Nrcam |
A |
T |
12: 44,609,240 (GRCm39) |
N455I |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,229,029 (GRCm39) |
E836K |
probably benign |
Het |
| Or2t29 |
C |
T |
11: 58,433,753 (GRCm39) |
C196Y |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,943 (GRCm39) |
K79* |
probably null |
Het |
| Or6c216 |
A |
T |
10: 129,678,625 (GRCm39) |
C95* |
probably null |
Het |
| Or8b1d |
A |
G |
9: 38,558,620 (GRCm39) |
S67P |
probably damaging |
Het |
| Pcca |
T |
C |
14: 122,901,717 (GRCm39) |
S287P |
probably damaging |
Het |
| Pitpnm3 |
T |
A |
11: 71,955,069 (GRCm39) |
T482S |
probably benign |
Het |
| Pld2 |
C |
T |
11: 70,445,893 (GRCm39) |
R676* |
probably null |
Het |
| Ppm1k |
T |
C |
6: 57,491,057 (GRCm39) |
Y286C |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,517,573 (GRCm39) |
N278D |
probably damaging |
Het |
| Sema3g |
T |
C |
14: 30,943,783 (GRCm39) |
L221P |
probably damaging |
Het |
| Skint2 |
C |
T |
4: 112,483,147 (GRCm39) |
T184I |
probably benign |
Het |
| Slc38a2 |
A |
G |
15: 96,591,172 (GRCm39) |
F232S |
probably damaging |
Het |
| Snx6 |
T |
C |
12: 54,814,811 (GRCm39) |
N170S |
probably benign |
Het |
| Sox9 |
T |
A |
11: 112,673,416 (GRCm39) |
N2K |
probably damaging |
Het |
| Sp140l1 |
G |
C |
1: 85,075,344 (GRCm39) |
|
probably null |
Het |
| Srpk2 |
T |
C |
5: 23,729,604 (GRCm39) |
E345G |
probably benign |
Het |
| Tbc1d21 |
T |
C |
9: 58,268,487 (GRCm39) |
M291V |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,693 (GRCm39) |
N20S |
probably benign |
Het |
| Tnxb |
T |
G |
17: 34,914,578 (GRCm39) |
I1888S |
possibly damaging |
Het |
| Tsnaxip1 |
G |
A |
8: 106,566,685 (GRCm39) |
E174K |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,433,140 (GRCm39) |
R2058Q |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ttyh2 |
T |
A |
11: 114,601,667 (GRCm39) |
D430E |
probably benign |
Het |
| Ubr2 |
C |
T |
17: 47,245,020 (GRCm39) |
G1669R |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,853,491 (GRCm39) |
S490T |
probably damaging |
Het |
| Vmn1r86 |
T |
A |
7: 12,836,741 (GRCm39) |
D45V |
probably damaging |
Het |
| Wdr12 |
A |
G |
1: 60,127,226 (GRCm39) |
V143A |
possibly damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,342,536 (GRCm39) |
T305I |
possibly damaging |
Het |
| Zfp384 |
T |
A |
6: 125,007,802 (GRCm39) |
M244K |
possibly damaging |
Het |
| Zfp423 |
A |
T |
8: 88,414,595 (GRCm39) |
V1241D |
probably damaging |
Het |
| Zfp574 |
A |
G |
7: 24,780,640 (GRCm39) |
Y554C |
probably damaging |
Het |
| Zfp616 |
T |
C |
11: 73,976,220 (GRCm39) |
S830P |
probably damaging |
Het |
| Zfp839 |
A |
G |
12: 110,834,776 (GRCm39) |
Y677C |
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 |
|
|
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 |
|
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'- ATGCAGCATGTATTTCCACCTC -3'
(R):5'- AGCTGCCAAGTCCCTTTTGC -3'
Sequencing Primer
(F):5'- TCTTTTACAAGGACCAGCTGGAC -3'
(R):5'- CCAAGTCCCTTTTGCTGGGTAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation