Incidental Mutation 'R0736:Zbtb17'
| ID |
67286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb17
|
| Ensembl Gene |
ENSMUSG00000006215 |
| Gene Name |
zinc finger and BTB domain containing 17 |
| Synonyms |
mZ13, Zfp100, Miz1 |
| MMRRC Submission |
038917-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0736 (G1)
|
| Quality Score |
123 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141171984-141195248 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 141189097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 6
(H6N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006377]
|
| AlphaFold |
Q60821 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006377
AA Change: H6N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: H6N
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
116 |
1.38e-27 |
SMART |
|
low complexity region
|
203 |
222 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
297 |
319 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
381 |
403 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
409 |
431 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
437 |
459 |
1.22e-4 |
SMART |
|
ZnF_C2H2
|
465 |
487 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
493 |
515 |
3.26e-5 |
SMART |
|
ZnF_C2H2
|
521 |
543 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
549 |
571 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
577 |
599 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
605 |
628 |
2.57e-3 |
SMART |
|
low complexity region
|
654 |
674 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
708 |
730 |
4.4e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123477
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142695
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144899
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryonic development of homozygous null mice is severely impaired and death occurs prior to E8.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn1 |
G |
A |
6: 149,084,970 (GRCm39) |
H37Y |
possibly damaging |
Het |
| Cacna2d3 |
A |
T |
14: 28,780,585 (GRCm39) |
H644Q |
probably benign |
Het |
| Calb1 |
G |
A |
4: 15,898,917 (GRCm39) |
V138M |
probably benign |
Het |
| Cep55 |
C |
A |
19: 38,061,765 (GRCm39) |
T402N |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,875,078 (GRCm39) |
A26T |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,731,811 (GRCm39) |
V1481I |
possibly damaging |
Het |
| Dmxl2 |
C |
T |
9: 54,286,101 (GRCm39) |
V2695I |
probably damaging |
Het |
| Elapor2 |
A |
T |
5: 9,491,745 (GRCm39) |
S702C |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,943,344 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,500,432 (GRCm39) |
M461I |
probably benign |
Het |
| Mapk9 |
G |
A |
11: 49,774,081 (GRCm39) |
D413N |
possibly damaging |
Het |
| Morc4 |
G |
T |
X: 138,755,700 (GRCm39) |
Q239K |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,877,813 (GRCm39) |
V488D |
unknown |
Het |
| Neb |
A |
T |
2: 52,082,024 (GRCm39) |
Y24N |
probably damaging |
Het |
| Neo1 |
G |
A |
9: 58,824,364 (GRCm39) |
P688L |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,783,375 (GRCm39) |
D409V |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,051,659 (GRCm39) |
V1231A |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,285,207 (GRCm39) |
N327D |
probably damaging |
Het |
| Pdzd8 |
C |
A |
19: 59,333,365 (GRCm39) |
V219L |
probably damaging |
Het |
| Pgc |
T |
A |
17: 48,039,705 (GRCm39) |
M33K |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,758 (GRCm39) |
T154S |
possibly damaging |
Het |
| Polm |
G |
C |
11: 5,785,495 (GRCm39) |
S188C |
possibly damaging |
Het |
| Slfn1 |
A |
T |
11: 83,011,907 (GRCm39) |
T8S |
probably benign |
Het |
| St8sia6 |
C |
T |
2: 13,673,696 (GRCm39) |
V179M |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,469,474 (GRCm39) |
F274I |
possibly damaging |
Het |
| Tspan5 |
T |
C |
3: 138,574,159 (GRCm39) |
|
probably null |
Het |
| Utp14b |
A |
G |
1: 78,642,989 (GRCm39) |
K296E |
probably damaging |
Het |
| Zbtb14 |
A |
G |
17: 69,694,797 (GRCm39) |
E165G |
possibly damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,432 (GRCm39) |
H286Y |
probably benign |
Het |
|
| Other mutations in Zbtb17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01137:Zbtb17
|
APN |
4 |
141,193,678 (GRCm39) |
nonsense |
probably null |
|
|
IGL01449:Zbtb17
|
APN |
4 |
141,190,616 (GRCm39) |
missense |
probably benign |
|
|
IGL01835:Zbtb17
|
APN |
4 |
141,192,749 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02141:Zbtb17
|
APN |
4 |
141,192,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02142:Zbtb17
|
APN |
4 |
141,192,293 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02167:Zbtb17
|
APN |
4 |
141,189,140 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02388:Zbtb17
|
APN |
4 |
141,189,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02600:Zbtb17
|
APN |
4 |
141,194,196 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02617:Zbtb17
|
APN |
4 |
141,192,399 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03290:Zbtb17
|
APN |
4 |
141,194,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03391:Zbtb17
|
APN |
4 |
141,194,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02799:Zbtb17
|
UTSW |
4 |
141,190,691 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0698:Zbtb17
|
UTSW |
4 |
141,193,407 (GRCm39) |
splice site |
probably null |
|
|
R1924:Zbtb17
|
UTSW |
4 |
141,191,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Zbtb17
|
UTSW |
4 |
141,192,859 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2164:Zbtb17
|
UTSW |
4 |
141,191,557 (GRCm39) |
missense |
probably benign |
|
|
R2517:Zbtb17
|
UTSW |
4 |
141,191,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3424:Zbtb17
|
UTSW |
4 |
141,192,299 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3884:Zbtb17
|
UTSW |
4 |
141,191,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Zbtb17
|
UTSW |
4 |
141,193,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Zbtb17
|
UTSW |
4 |
141,193,860 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5327:Zbtb17
|
UTSW |
4 |
141,192,942 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5363:Zbtb17
|
UTSW |
4 |
141,194,072 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5987:Zbtb17
|
UTSW |
4 |
141,192,128 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6038:Zbtb17
|
UTSW |
4 |
141,191,752 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6038:Zbtb17
|
UTSW |
4 |
141,191,752 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6311:Zbtb17
|
UTSW |
4 |
141,190,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6320:Zbtb17
|
UTSW |
4 |
141,190,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6321:Zbtb17
|
UTSW |
4 |
141,190,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6322:Zbtb17
|
UTSW |
4 |
141,190,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6337:Zbtb17
|
UTSW |
4 |
141,190,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6365:Zbtb17
|
UTSW |
4 |
141,190,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6492:Zbtb17
|
UTSW |
4 |
141,190,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6605:Zbtb17
|
UTSW |
4 |
141,192,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6695:Zbtb17
|
UTSW |
4 |
141,189,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7717:Zbtb17
|
UTSW |
4 |
141,193,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7999:Zbtb17
|
UTSW |
4 |
141,189,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Zbtb17
|
UTSW |
4 |
141,194,139 (GRCm39) |
unclassified |
probably benign |
|
|
R8544:Zbtb17
|
UTSW |
4 |
141,194,139 (GRCm39) |
unclassified |
probably benign |
|
|
R8545:Zbtb17
|
UTSW |
4 |
141,194,139 (GRCm39) |
unclassified |
probably benign |
|
|
R8836:Zbtb17
|
UTSW |
4 |
141,189,233 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9072:Zbtb17
|
UTSW |
4 |
141,193,676 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9073:Zbtb17
|
UTSW |
4 |
141,193,676 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9389:Zbtb17
|
UTSW |
4 |
141,193,131 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9785:Zbtb17
|
UTSW |
4 |
141,194,271 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Z1176:Zbtb17
|
UTSW |
4 |
141,190,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGACCGCATAATCGCTTTGCTTC -3'
(R):5'- GTCCTTCTGGTCCACAAAGAGCATC -3'
Sequencing Primer
(F):5'- TCGAGTAAGCTTTGGGAATGAC -3'
(R):5'- AGAGCATCTTGAAGTACTCGCTG -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation