Incidental Mutation 'R6695:Zbtb17'
ID |
528530 |
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 |
044813-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6695 (G1)
|
Quality Score |
102.008 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
141171984-141195248 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 141189110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 10
(V10D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006377]
|
AlphaFold |
Q60821 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006377
AA Change: V10D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006377 Gene: ENSMUSG00000006215 AA Change: V10D
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
|
Meta Mutation Damage Score |
0.6135 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (45/46) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd9 |
A |
T |
12: 110,943,497 (GRCm39) |
L179H |
probably benign |
Het |
Cacna1h |
C |
A |
17: 25,612,714 (GRCm39) |
A370S |
probably damaging |
Het |
Cc2d2a |
A |
T |
5: 43,876,019 (GRCm39) |
I1053F |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,721,230 (GRCm39) |
V1467A |
probably damaging |
Het |
Cyp4f15 |
T |
A |
17: 32,911,586 (GRCm39) |
L156* |
probably null |
Het |
Dmwd |
T |
A |
7: 18,814,652 (GRCm39) |
L434Q |
probably damaging |
Het |
Dtx4 |
T |
A |
19: 12,450,599 (GRCm39) |
R538* |
probably null |
Het |
Fcgbp |
T |
A |
7: 27,785,695 (GRCm39) |
C377* |
probably null |
Het |
Galntl6 |
G |
T |
8: 58,880,804 (GRCm39) |
H116Q |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,391,148 (GRCm39) |
|
probably null |
Het |
Hydin |
T |
G |
8: 111,053,092 (GRCm39) |
S255A |
probably benign |
Het |
Knstrn |
G |
A |
2: 118,644,723 (GRCm39) |
A48T |
probably damaging |
Het |
Lonrf2 |
T |
C |
1: 38,852,470 (GRCm39) |
D127G |
probably benign |
Het |
Luzp1 |
T |
C |
4: 136,272,609 (GRCm39) |
S12P |
possibly damaging |
Het |
Man2c1 |
A |
T |
9: 57,048,875 (GRCm39) |
H822L |
probably benign |
Het |
Map3k13 |
G |
T |
16: 21,741,028 (GRCm39) |
G785V |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,219,366 (GRCm39) |
H454R |
probably damaging |
Het |
Mib2 |
G |
A |
4: 155,745,629 (GRCm39) |
R61C |
probably damaging |
Het |
Muc15 |
A |
T |
2: 110,561,616 (GRCm39) |
L17F |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nav2 |
A |
G |
7: 49,114,652 (GRCm39) |
I879V |
probably benign |
Het |
Nomo1 |
T |
A |
7: 45,715,885 (GRCm39) |
S751T |
probably benign |
Het |
Or1j10 |
A |
T |
2: 36,267,117 (GRCm39) |
S110C |
probably benign |
Het |
Or5b24 |
A |
T |
19: 12,912,764 (GRCm39) |
I221L |
possibly damaging |
Het |
Or5g27 |
A |
G |
2: 85,409,793 (GRCm39) |
D70G |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,278,256 (GRCm39) |
N412S |
probably benign |
Het |
Plk5 |
T |
C |
10: 80,196,035 (GRCm39) |
S235P |
probably benign |
Het |
Ppm1j |
A |
G |
3: 104,692,802 (GRCm39) |
D437G |
probably damaging |
Het |
Rab11fip1 |
T |
C |
8: 27,633,262 (GRCm39) |
E1148G |
probably damaging |
Het |
Rad9b |
T |
C |
5: 122,489,754 (GRCm39) |
N43S |
probably damaging |
Het |
Rc3h2 |
A |
C |
2: 37,304,673 (GRCm39) |
I29S |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
Spta1 |
A |
T |
1: 174,071,608 (GRCm39) |
|
probably null |
Het |
Stk32c |
A |
T |
7: 138,702,880 (GRCm39) |
V53E |
probably damaging |
Het |
Strc |
A |
T |
2: 121,207,705 (GRCm39) |
F555L |
probably benign |
Het |
Sugct |
T |
G |
13: 17,497,815 (GRCm39) |
N286T |
possibly damaging |
Het |
Swsap1 |
A |
T |
9: 21,867,971 (GRCm39) |
|
probably null |
Het |
Thbs2 |
T |
A |
17: 14,894,426 (GRCm39) |
D807V |
possibly damaging |
Het |
Tnrc6b |
A |
G |
15: 80,763,974 (GRCm39) |
D492G |
probably damaging |
Het |
Tonsl |
A |
T |
15: 76,514,018 (GRCm39) |
S1184T |
possibly damaging |
Het |
Tpp2 |
T |
A |
1: 44,022,436 (GRCm39) |
Y945N |
probably benign |
Het |
Usp54 |
G |
T |
14: 20,610,937 (GRCm39) |
A1293D |
possibly damaging |
Het |
Vps52 |
A |
T |
17: 34,182,173 (GRCm39) |
K516* |
probably null |
Het |
Zfp607b |
T |
C |
7: 27,403,464 (GRCm39) |
V640A |
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 |
|
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 |
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'- AGCTTTGGGAATGACTGGGC -3'
(R):5'- CTGCCGCATTACTGATGTCTAGG -3'
Sequencing Primer
(F):5'- AAGTGTCTGGAGTCATCTGCCC -3'
(R):5'- ATTACTGATGTCTAGGTGCACCACG -3'
|
Posted On |
2018-07-24 |