Incidental Mutation 'R4542:Zbtb18'
| ID |
333564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb18
|
| Ensembl Gene |
ENSMUSG00000063659 |
| Gene Name |
zinc finger and BTB domain containing 18 |
| Synonyms |
RP58, Zfp238 |
| MMRRC Submission |
041593-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4542 (G1)
|
| Quality Score |
94 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
177269917-177278330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 177276232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 522
(K522E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077225]
[ENSMUST00000094276]
[ENSMUST00000192699]
[ENSMUST00000192851]
[ENSMUST00000193440]
[ENSMUST00000193480]
[ENSMUST00000195612]
[ENSMUST00000195388]
[ENSMUST00000194319]
[ENSMUST00000195549]
[ENSMUST00000195002]
|
| AlphaFold |
Q9WUK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077225
AA Change: K522E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076463
Gene: ENSMUSG00000063659
AA Change: K522E
| 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: K531E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091831
Gene: ENSMUSG00000063659
AA Change: K531E
| 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 |
noncoding transcript
Transcript: ENSMUST00000194269
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195612
AA Change: K522E
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141724
Gene: ENSMUSG00000063659
AA Change: K522E
| 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: 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
|
| 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: ENSMUST00000195002
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,875 (GRCm39) |
L833Q |
probably damaging |
Het |
| Adcy6 |
C |
G |
15: 98,496,869 (GRCm39) |
V469L |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bean1 |
T |
A |
8: 104,937,591 (GRCm39) |
F57I |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,329 (GRCm39) |
I734V |
probably benign |
Het |
| Cab39l |
C |
A |
14: 59,734,351 (GRCm39) |
D23E |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,860,991 (GRCm39) |
T839A |
probably benign |
Het |
| Clgn |
A |
G |
8: 84,146,838 (GRCm39) |
E297G |
probably damaging |
Het |
| Crip1 |
A |
G |
12: 113,117,109 (GRCm39) |
Y108C |
probably damaging |
Het |
| Cxcr2 |
A |
G |
1: 74,197,688 (GRCm39) |
S61G |
probably benign |
Het |
| Dph5 |
T |
C |
3: 115,722,274 (GRCm39) |
S251P |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,602,984 (GRCm39) |
V333E |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,930,728 (GRCm39) |
D918G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,096,980 (GRCm39) |
E254G |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,494,931 (GRCm39) |
C4065R |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,148 (GRCm39) |
F169S |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,279,684 (GRCm39) |
I1384T |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,878,593 (GRCm39) |
L302* |
probably null |
Het |
| Nalcn |
T |
C |
14: 123,558,889 (GRCm39) |
|
silent |
Het |
| Nlrp1b |
A |
C |
11: 71,119,151 (GRCm39) |
L48W |
probably damaging |
Het |
| Nlrp4c |
G |
A |
7: 6,103,826 (GRCm39) |
W920* |
probably null |
Het |
| Nr2f1 |
C |
T |
13: 78,337,940 (GRCm39) |
G235D |
probably damaging |
Het |
| Nt5dc2 |
T |
A |
14: 30,860,095 (GRCm39) |
D374E |
probably benign |
Het |
| Or2d3 |
GAACAACAACAA |
GAACAACAA |
7: 106,490,567 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
T |
C |
7: 102,391,850 (GRCm39) |
D120G |
probably damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,287 (GRCm39) |
D312G |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,283,589 (GRCm39) |
I742T |
probably damaging |
Het |
| Rftn1 |
A |
G |
17: 50,362,259 (GRCm39) |
|
probably null |
Het |
| Rfx1 |
G |
A |
8: 84,816,866 (GRCm39) |
G466S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,584,200 (GRCm39) |
S1472T |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,799,394 (GRCm39) |
Q421R |
probably benign |
Het |
| Slc25a10 |
G |
A |
11: 120,388,807 (GRCm39) |
|
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,097 (GRCm39) |
Y1510C |
unknown |
Het |
| Ssu72 |
A |
G |
4: 155,817,934 (GRCm39) |
Q163R |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,795,181 (GRCm39) |
Y223H |
probably damaging |
Het |
| Syne3 |
A |
T |
12: 104,935,503 (GRCm39) |
S92T |
probably benign |
Het |
| Ulbp1 |
T |
C |
10: 7,406,570 (GRCm39) |
D45G |
probably damaging |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,357 (GRCm39) |
Y207C |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,497 (GRCm39) |
D305G |
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 |
|
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'- AGTACTCGCACAACCTGAGC -3'
(R):5'- ACAGCTCTCTACTTGTGACTTG -3'
Sequencing Primer
(F):5'- AACCTGAGCCGTCATGC -3'
(R):5'- TGCTAAATTAGTGAGATTCTCATGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation