Incidental Mutation 'IGL02167:Zbtb17'
ID |
282751 |
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 # |
IGL02167
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
141171984-141195248 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 141189140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 20
(L20P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006377]
|
AlphaFold |
Q60821 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006377
AA Change: L20P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000006377 Gene: ENSMUSG00000006215 AA Change: L20P
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
A |
6: 23,122,721 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
T |
C |
X: 7,482,258 (GRCm39) |
Y581H |
probably damaging |
Het |
Camsap1 |
C |
T |
2: 25,824,312 (GRCm39) |
R1416H |
probably damaging |
Het |
Ccdc117 |
T |
C |
11: 5,481,333 (GRCm39) |
E266G |
possibly damaging |
Het |
Ccdc9 |
A |
T |
7: 16,018,284 (GRCm39) |
L8* |
probably null |
Het |
Cited2 |
T |
C |
10: 17,600,018 (GRCm39) |
S109P |
probably benign |
Het |
Cnot4 |
T |
C |
6: 35,033,159 (GRCm39) |
D286G |
possibly damaging |
Het |
Col5a1 |
T |
C |
2: 27,908,568 (GRCm39) |
I52T |
probably benign |
Het |
Cry2 |
T |
C |
2: 92,264,166 (GRCm39) |
N68S |
possibly damaging |
Het |
Cul4a |
T |
C |
8: 13,172,826 (GRCm39) |
F153S |
probably damaging |
Het |
Ddr1 |
T |
C |
17: 36,000,963 (GRCm39) |
S261G |
possibly damaging |
Het |
Depdc5 |
G |
A |
5: 33,061,145 (GRCm39) |
R324Q |
probably damaging |
Het |
Dmgdh |
A |
G |
13: 93,857,135 (GRCm39) |
|
probably benign |
Het |
Epha8 |
A |
T |
4: 136,658,405 (GRCm39) |
M990K |
probably damaging |
Het |
Gpr137c |
G |
T |
14: 45,517,412 (GRCm39) |
G383C |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,145,055 (GRCm39) |
I802N |
possibly damaging |
Het |
Ifne |
A |
G |
4: 88,798,065 (GRCm39) |
Y118H |
possibly damaging |
Het |
Kansl2 |
T |
C |
15: 98,431,396 (GRCm39) |
|
probably benign |
Het |
Lig4 |
T |
A |
8: 10,021,821 (GRCm39) |
N653I |
probably benign |
Het |
Nagk |
A |
G |
6: 83,778,088 (GRCm39) |
D246G |
probably damaging |
Het |
Nav1 |
A |
G |
1: 135,398,699 (GRCm39) |
S628P |
probably damaging |
Het |
Ncoa3 |
A |
G |
2: 165,912,056 (GRCm39) |
Y1401C |
probably damaging |
Het |
Ndufa9 |
A |
G |
6: 126,821,748 (GRCm39) |
|
probably benign |
Het |
Nynrin |
G |
T |
14: 56,100,792 (GRCm39) |
R194L |
probably damaging |
Het |
Or10a4 |
A |
T |
7: 106,696,868 (GRCm39) |
R65S |
probably benign |
Het |
Or10ag53 |
G |
A |
2: 87,082,542 (GRCm39) |
C87Y |
probably benign |
Het |
Or13a17 |
T |
A |
7: 140,271,664 (GRCm39) |
V282D |
probably damaging |
Het |
Orc2 |
A |
T |
1: 58,522,798 (GRCm39) |
|
probably benign |
Het |
Oxgr1 |
T |
A |
14: 120,259,342 (GRCm39) |
R288S |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,338,045 (GRCm39) |
S450P |
probably damaging |
Het |
Prkcg |
T |
C |
7: 3,371,097 (GRCm39) |
|
probably null |
Het |
Prox1 |
T |
C |
1: 189,893,477 (GRCm39) |
N323D |
probably benign |
Het |
Prrt1 |
A |
C |
17: 34,850,829 (GRCm39) |
E215A |
possibly damaging |
Het |
Rab2b |
T |
C |
14: 52,506,153 (GRCm39) |
D103G |
probably damaging |
Het |
Sardh |
G |
T |
2: 27,081,987 (GRCm39) |
N846K |
probably damaging |
Het |
Slc38a8 |
T |
A |
8: 120,214,099 (GRCm39) |
T248S |
probably benign |
Het |
Slc6a18 |
T |
C |
13: 73,814,591 (GRCm39) |
|
probably null |
Het |
Smcp |
T |
C |
3: 92,491,506 (GRCm39) |
T114A |
unknown |
Het |
Trpv1 |
A |
G |
11: 73,145,623 (GRCm39) |
N754D |
probably damaging |
Het |
Txnrd1 |
A |
T |
10: 82,717,745 (GRCm39) |
H243L |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,109,023 (GRCm39) |
M125V |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,224,601 (GRCm39) |
|
probably null |
Het |
Wrn |
T |
C |
8: 33,807,583 (GRCm39) |
M292V |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,121,296 (GRCm39) |
H97R |
probably damaging |
Het |
Zfp68 |
T |
A |
5: 138,604,629 (GRCm39) |
M565L |
probably benign |
Het |
Zfp687 |
T |
C |
3: 94,917,841 (GRCm39) |
T644A |
probably benign |
Het |
Zfp777 |
C |
T |
6: 48,021,460 (GRCm39) |
G54D |
probably 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 |
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 |
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 |