Incidental Mutation 'R8545:Zbtb17'
| ID |
659578 |
| 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 |
068510-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8545 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141171984-141195248 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
CCCCCACCTCCACAGACCCCA to CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA
at 141194139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101412
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006377]
[ENSMUST00000078886]
[ENSMUST00000105786]
|
| AlphaFold |
Q60821 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006377
|
| SMART Domains |
Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,236,794 (GRCm39) |
Y1779C |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,450,084 (GRCm39) |
N2293D |
possibly damaging |
Het |
| Arhgap30 |
T |
C |
1: 171,234,998 (GRCm39) |
L488P |
probably damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,423,408 (GRCm39) |
Q886L |
probably damaging |
Het |
| Arhgef10 |
T |
G |
8: 14,978,868 (GRCm39) |
V45G |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 15,025,931 (GRCm39) |
T812A |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,813,352 (GRCm39) |
S246G |
probably benign |
Het |
| Cby3 |
T |
C |
11: 50,250,243 (GRCm39) |
S150P |
probably benign |
Het |
| Cdc40 |
A |
G |
10: 40,723,939 (GRCm39) |
V283A |
probably benign |
Het |
| Cox15 |
A |
T |
19: 43,728,421 (GRCm39) |
V284E |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,290,227 (GRCm39) |
H260L |
probably benign |
Het |
| Dph6 |
G |
A |
2: 114,478,248 (GRCm39) |
A31V |
probably damaging |
Het |
| Dsc2 |
G |
A |
18: 20,167,722 (GRCm39) |
Q123* |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,731,097 (GRCm39) |
F810S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,467,996 (GRCm39) |
|
probably benign |
Het |
| Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,257 (GRCm39) |
L55* |
probably null |
Het |
| Hgsnat |
T |
C |
8: 26,445,707 (GRCm39) |
T396A |
probably benign |
Het |
| Il17rd |
T |
G |
14: 26,813,886 (GRCm39) |
F55C |
probably damaging |
Het |
| Mad1l1 |
A |
C |
5: 140,286,249 (GRCm39) |
M250R |
probably benign |
Het |
| Muc15 |
A |
T |
2: 110,561,581 (GRCm39) |
K6* |
probably null |
Het |
| Muc2 |
A |
G |
7: 141,306,130 (GRCm39) |
N273S |
unknown |
Het |
| Myh1 |
T |
A |
11: 67,093,027 (GRCm39) |
Y78N |
probably benign |
Het |
| Pcdh20 |
T |
A |
14: 88,706,601 (GRCm39) |
H233L |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,602,856 (GRCm39) |
A373T |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,863,391 (GRCm39) |
M778K |
possibly damaging |
Het |
| Pigg |
A |
T |
5: 108,489,726 (GRCm39) |
D644V |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,570 (GRCm39) |
I142N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,704,239 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,139,291 (GRCm39) |
M87V |
possibly damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,652,779 (GRCm39) |
Y114C |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,648,718 (GRCm39) |
W1905R |
probably damaging |
Het |
| Tmem109 |
G |
A |
19: 10,851,734 (GRCm39) |
R37* |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,800,258 (GRCm39) |
Y1802C |
probably benign |
Het |
| Zcchc4 |
G |
A |
5: 52,976,741 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
T |
C |
7: 127,484,662 (GRCm39) |
S1772P |
probably benign |
Het |
| Zfp820 |
A |
G |
17: 22,038,438 (GRCm39) |
C297R |
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 |
|
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 |
|
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 |
|
|
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'- AACAATGGGGTAGCTCCTTG -3'
(R):5'- TGGTAGGCAATCAGGAGCTG -3'
Sequencing Primer
(F):5'- TGCCTCAGACCCTGCTGAC -3'
(R):5'- CAATCAGGAGCTGTGGGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation