Incidental Mutation 'IGL02388:Zbtb17'
ID |
291633 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zbtb17
|
Ensembl Gene |
ENSMUSG00000006215 |
Gene Name |
zinc finger and BTB domain containing 17 |
Synonyms |
mZ13, Zfp100, Miz1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02388
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
141171984-141195248 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141189224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 48
(Y48C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006377]
|
AlphaFold |
Q60821 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006377
AA Change: Y48C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006377 Gene: ENSMUSG00000006215 AA Change: Y48C
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 |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930597O21Rik |
A |
T |
6: 66,873,097 (GRCm39) |
|
probably benign |
Het |
Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
Asphd1 |
A |
T |
7: 126,545,884 (GRCm39) |
|
probably benign |
Het |
Ccdc77 |
G |
A |
6: 120,308,858 (GRCm39) |
A301V |
probably benign |
Het |
Cep350 |
G |
T |
1: 155,829,499 (GRCm39) |
T135K |
probably benign |
Het |
Chrna7 |
A |
T |
7: 62,757,439 (GRCm39) |
D153E |
probably damaging |
Het |
Clec4b2 |
G |
T |
6: 123,179,187 (GRCm39) |
|
probably null |
Het |
Cyp2c67 |
T |
C |
19: 39,631,799 (GRCm39) |
N133D |
probably benign |
Het |
Dglucy |
T |
C |
12: 100,823,257 (GRCm39) |
I484T |
probably damaging |
Het |
Dtna |
G |
T |
18: 23,730,571 (GRCm39) |
M319I |
probably benign |
Het |
E2f5 |
T |
A |
3: 14,653,340 (GRCm39) |
M152K |
probably benign |
Het |
Emsy |
A |
T |
7: 98,290,873 (GRCm39) |
M58K |
probably damaging |
Het |
Epha1 |
A |
G |
6: 42,341,950 (GRCm39) |
Y367H |
probably damaging |
Het |
Etv1 |
A |
G |
12: 38,831,798 (GRCm39) |
S32G |
possibly damaging |
Het |
Fam114a1 |
A |
T |
5: 65,166,323 (GRCm39) |
|
probably benign |
Het |
Fbxo30 |
T |
A |
10: 11,166,122 (GRCm39) |
N281K |
probably benign |
Het |
Galnt12 |
G |
T |
4: 47,117,941 (GRCm39) |
R412L |
probably damaging |
Het |
Gm5786 |
T |
A |
12: 59,128,382 (GRCm39) |
|
noncoding transcript |
Het |
Gm9845 |
T |
C |
3: 39,412,616 (GRCm39) |
|
noncoding transcript |
Het |
Hecw2 |
A |
G |
1: 53,964,858 (GRCm39) |
V656A |
probably benign |
Het |
Hpse2 |
A |
T |
19: 43,282,692 (GRCm39) |
V187D |
probably damaging |
Het |
Itsn2 |
T |
A |
12: 4,679,557 (GRCm39) |
M122K |
possibly damaging |
Het |
Kcnj11 |
A |
G |
7: 45,749,213 (GRCm39) |
S37P |
probably benign |
Het |
Kif13b |
T |
C |
14: 65,037,807 (GRCm39) |
I1491T |
probably damaging |
Het |
Krt36 |
T |
A |
11: 99,995,990 (GRCm39) |
K145* |
probably null |
Het |
Loxhd1 |
A |
G |
18: 77,456,833 (GRCm39) |
I499V |
probably benign |
Het |
Map3k4 |
G |
T |
17: 12,490,497 (GRCm39) |
N311K |
probably damaging |
Het |
Mical2 |
C |
A |
7: 111,934,620 (GRCm39) |
H880N |
probably benign |
Het |
Myo1d |
A |
T |
11: 80,528,823 (GRCm39) |
C666* |
probably null |
Het |
Nlrx1 |
C |
T |
9: 44,175,302 (GRCm39) |
R158H |
probably benign |
Het |
Or10ag53 |
T |
A |
2: 87,082,295 (GRCm39) |
Y5N |
probably benign |
Het |
Or10q1 |
C |
A |
19: 13,726,994 (GRCm39) |
H175N |
possibly damaging |
Het |
Or13a17 |
A |
G |
7: 140,271,024 (GRCm39) |
T69A |
probably benign |
Het |
Or1e21 |
A |
T |
11: 73,344,106 (GRCm39) |
L311I |
probably benign |
Het |
Or4a78 |
T |
C |
2: 89,497,316 (GRCm39) |
S305G |
probably benign |
Het |
Pdgfrl |
A |
G |
8: 41,430,094 (GRCm39) |
R154G |
probably benign |
Het |
Pitpnb |
T |
C |
5: 111,478,699 (GRCm39) |
F7S |
possibly damaging |
Het |
Ppm1n |
G |
A |
7: 19,013,097 (GRCm39) |
R285C |
probably damaging |
Het |
Prdm11 |
A |
T |
2: 92,805,957 (GRCm39) |
I331N |
possibly damaging |
Het |
Ptprb |
C |
T |
10: 116,203,426 (GRCm39) |
P2066L |
probably damaging |
Het |
Ric8b |
T |
C |
10: 84,828,135 (GRCm39) |
|
probably benign |
Het |
Setx |
A |
G |
2: 29,063,665 (GRCm39) |
I2320M |
probably damaging |
Het |
Skil |
C |
A |
3: 31,165,787 (GRCm39) |
S368* |
probably null |
Het |
Slc1a5 |
G |
T |
7: 16,519,644 (GRCm39) |
|
probably null |
Het |
Trpm7 |
A |
C |
2: 126,661,811 (GRCm39) |
V1079G |
possibly damaging |
Het |
Tulp1 |
A |
G |
17: 28,577,633 (GRCm39) |
F2L |
probably damaging |
Het |
Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
Zfp605 |
T |
A |
5: 110,275,506 (GRCm39) |
I208N |
possibly damaging |
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 |
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 |
|
R0736:Zbtb17
|
UTSW |
4 |
141,189,097 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |