Incidental Mutation 'R6605:Zbtb17'
ID |
525574 |
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 |
044728-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6605 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
141171984-141195248 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 141192261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 402
(V402A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006377]
[ENSMUST00000078886]
[ENSMUST00000105786]
|
AlphaFold |
Q60821 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006377
AA Change: V402A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000006377 Gene: ENSMUSG00000006215 AA Change: V402A
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 |
probably benign
Transcript: ENSMUST00000078886
|
SMART Domains |
Protein: ENSMUSP00000077925 Gene: ENSMUSG00000040761
Domain | Start | End | E-Value | Type |
RRM
|
7 |
77 |
7.77e-12 |
SMART |
low complexity region
|
109 |
121 |
N/A |
INTRINSIC |
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
low complexity region
|
262 |
311 |
N/A |
INTRINSIC |
RRM
|
338 |
411 |
8.6e-5 |
SMART |
RRM
|
441 |
511 |
1.56e-16 |
SMART |
RRM
|
520 |
587 |
1.84e-13 |
SMART |
low complexity region
|
617 |
632 |
N/A |
INTRINSIC |
low complexity region
|
669 |
691 |
N/A |
INTRINSIC |
low complexity region
|
695 |
720 |
N/A |
INTRINSIC |
low complexity region
|
749 |
773 |
N/A |
INTRINSIC |
coiled coil region
|
800 |
825 |
N/A |
INTRINSIC |
low complexity region
|
830 |
841 |
N/A |
INTRINSIC |
internal_repeat_2
|
844 |
954 |
6.27e-5 |
PROSPERO |
coiled coil region
|
1494 |
1522 |
N/A |
INTRINSIC |
low complexity region
|
1587 |
1627 |
N/A |
INTRINSIC |
low complexity region
|
1635 |
1641 |
N/A |
INTRINSIC |
low complexity region
|
1642 |
1671 |
N/A |
INTRINSIC |
low complexity region
|
1747 |
1758 |
N/A |
INTRINSIC |
low complexity region
|
1810 |
1823 |
N/A |
INTRINSIC |
low complexity region
|
1888 |
1903 |
N/A |
INTRINSIC |
low complexity region
|
1940 |
1955 |
N/A |
INTRINSIC |
low complexity region
|
2003 |
2012 |
N/A |
INTRINSIC |
internal_repeat_2
|
2015 |
2115 |
6.27e-5 |
PROSPERO |
low complexity region
|
2127 |
2147 |
N/A |
INTRINSIC |
low complexity region
|
2169 |
2191 |
N/A |
INTRINSIC |
low complexity region
|
2207 |
2219 |
N/A |
INTRINSIC |
low complexity region
|
2304 |
2323 |
N/A |
INTRINSIC |
low complexity region
|
2332 |
2371 |
N/A |
INTRINSIC |
low complexity region
|
2396 |
2413 |
N/A |
INTRINSIC |
low complexity region
|
2518 |
2533 |
N/A |
INTRINSIC |
low complexity region
|
2545 |
2555 |
N/A |
INTRINSIC |
low complexity region
|
2696 |
2722 |
N/A |
INTRINSIC |
low complexity region
|
2931 |
2942 |
N/A |
INTRINSIC |
low complexity region
|
2994 |
3006 |
N/A |
INTRINSIC |
low complexity region
|
3192 |
3212 |
N/A |
INTRINSIC |
low complexity region
|
3299 |
3337 |
N/A |
INTRINSIC |
Pfam:SPOC
|
3465 |
3586 |
2.7e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105786
|
SMART Domains |
Protein: ENSMUSP00000101412 Gene: ENSMUSG00000040761
Domain | Start | End | E-Value | Type |
RRM
|
7 |
77 |
7.77e-12 |
SMART |
low complexity region
|
109 |
121 |
N/A |
INTRINSIC |
low complexity region
|
235 |
257 |
N/A |
INTRINSIC |
low complexity region
|
262 |
311 |
N/A |
INTRINSIC |
RRM
|
338 |
411 |
8.6e-5 |
SMART |
RRM
|
441 |
511 |
1.56e-16 |
SMART |
RRM
|
520 |
587 |
1.84e-13 |
SMART |
low complexity region
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
718 |
743 |
N/A |
INTRINSIC |
low complexity region
|
772 |
796 |
N/A |
INTRINSIC |
coiled coil region
|
823 |
848 |
N/A |
INTRINSIC |
low complexity region
|
853 |
864 |
N/A |
INTRINSIC |
internal_repeat_2
|
867 |
977 |
8.58e-5 |
PROSPERO |
coiled coil region
|
1517 |
1545 |
N/A |
INTRINSIC |
low complexity region
|
1610 |
1650 |
N/A |
INTRINSIC |
low complexity region
|
1658 |
1664 |
N/A |
INTRINSIC |
low complexity region
|
1665 |
1694 |
N/A |
INTRINSIC |
low complexity region
|
1770 |
1781 |
N/A |
INTRINSIC |
low complexity region
|
1833 |
1846 |
N/A |
INTRINSIC |
low complexity region
|
1911 |
1926 |
N/A |
INTRINSIC |
low complexity region
|
1963 |
1978 |
N/A |
INTRINSIC |
low complexity region
|
2026 |
2035 |
N/A |
INTRINSIC |
internal_repeat_2
|
2038 |
2138 |
8.58e-5 |
PROSPERO |
low complexity region
|
2150 |
2170 |
N/A |
INTRINSIC |
low complexity region
|
2192 |
2214 |
N/A |
INTRINSIC |
low complexity region
|
2230 |
2242 |
N/A |
INTRINSIC |
low complexity region
|
2327 |
2346 |
N/A |
INTRINSIC |
low complexity region
|
2355 |
2394 |
N/A |
INTRINSIC |
low complexity region
|
2419 |
2436 |
N/A |
INTRINSIC |
low complexity region
|
2541 |
2556 |
N/A |
INTRINSIC |
low complexity region
|
2568 |
2578 |
N/A |
INTRINSIC |
low complexity region
|
2719 |
2745 |
N/A |
INTRINSIC |
low complexity region
|
2954 |
2965 |
N/A |
INTRINSIC |
low complexity region
|
3017 |
3029 |
N/A |
INTRINSIC |
low complexity region
|
3215 |
3235 |
N/A |
INTRINSIC |
low complexity region
|
3322 |
3360 |
N/A |
INTRINSIC |
Pfam:SPOC
|
3488 |
3609 |
2.7e-29 |
PFAM |
|
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: ENSMUST00000147227
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142695
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
92% (35/38) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
A |
7: 45,630,481 (GRCm39) |
I1260F |
probably damaging |
Het |
Acat2 |
A |
G |
17: 13,162,774 (GRCm39) |
V358A |
probably benign |
Het |
Adgrv1 |
G |
A |
13: 81,636,081 (GRCm39) |
A3476V |
possibly damaging |
Het |
Akap13 |
A |
G |
7: 75,229,516 (GRCm39) |
N150D |
probably damaging |
Het |
Asb2 |
G |
T |
12: 103,311,943 (GRCm39) |
Q60K |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,650,134 (GRCm39) |
R708* |
probably null |
Het |
Cd79b |
C |
T |
11: 106,203,539 (GRCm39) |
G116D |
probably damaging |
Het |
Copg2 |
A |
G |
6: 30,835,757 (GRCm39) |
F218S |
probably benign |
Het |
Defa5 |
A |
C |
8: 21,787,604 (GRCm39) |
E50D |
possibly damaging |
Het |
Efcab3 |
T |
A |
11: 104,890,107 (GRCm39) |
|
probably null |
Het |
Eva1c |
T |
A |
16: 90,663,236 (GRCm39) |
V91D |
probably damaging |
Het |
Fosb |
T |
C |
7: 19,043,283 (GRCm39) |
Y25C |
probably damaging |
Het |
Gm5141 |
G |
A |
13: 62,922,201 (GRCm39) |
H323Y |
probably damaging |
Het |
Gpr19 |
T |
C |
6: 134,847,398 (GRCm39) |
N58S |
probably benign |
Het |
Gpr26 |
G |
A |
7: 131,585,893 (GRCm39) |
A288T |
possibly damaging |
Het |
Gucy2g |
T |
A |
19: 55,229,460 (GRCm39) |
Q70L |
probably damaging |
Het |
Ifit2 |
C |
T |
19: 34,550,897 (GRCm39) |
R146* |
probably null |
Het |
Lgr5 |
A |
C |
10: 115,293,772 (GRCm39) |
N408K |
possibly damaging |
Het |
Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
Mief1 |
T |
A |
15: 80,132,692 (GRCm39) |
Y191* |
probably null |
Het |
Npr3 |
C |
G |
15: 11,905,518 (GRCm39) |
A70P |
probably damaging |
Het |
Or2y1b |
A |
T |
11: 49,208,541 (GRCm39) |
H56L |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,265,032 (GRCm39) |
|
probably null |
Het |
Pnlip |
A |
T |
19: 58,660,174 (GRCm39) |
D29V |
probably benign |
Het |
Pnpt1 |
T |
A |
11: 29,088,567 (GRCm39) |
F277I |
possibly damaging |
Het |
Pou2f2 |
A |
C |
7: 24,793,006 (GRCm39) |
V441G |
probably damaging |
Het |
Prdm4 |
A |
G |
10: 85,740,002 (GRCm39) |
V459A |
probably benign |
Het |
Ptprs |
A |
T |
17: 56,729,195 (GRCm39) |
V855E |
probably damaging |
Het |
Rflna |
A |
G |
5: 125,088,352 (GRCm39) |
T100A |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Spata31h1 |
A |
T |
10: 82,131,871 (GRCm39) |
S380T |
probably benign |
Het |
Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
Taar8a |
A |
T |
10: 23,952,674 (GRCm39) |
I93F |
possibly damaging |
Het |
Taok2 |
T |
A |
7: 126,477,930 (GRCm39) |
D207V |
probably damaging |
Het |
Tpst2 |
A |
T |
5: 112,424,600 (GRCm39) |
|
probably benign |
Homo |
Trdv2-1 |
A |
G |
14: 54,183,999 (GRCm39) |
N77S |
possibly damaging |
Het |
Wdr17 |
A |
C |
8: 55,134,559 (GRCm39) |
V18G |
probably benign |
Het |
Zfp772 |
T |
C |
7: 7,208,547 (GRCm39) |
E99G |
possibly damaging |
Het |
Zw10 |
A |
G |
9: 48,980,926 (GRCm39) |
D442G |
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 |
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'- TAGCACCTTCTGACCCACAG -3'
(R):5'- TTCCTGATAGAAGCCCAGGTC -3'
Sequencing Primer
(F):5'- AGCCCGTTGAAACCCTATGG -3'
(R):5'- ACCATCCTAGGAGAGTCCCTGTC -3'
|
Posted On |
2018-06-22 |