Incidental Mutation 'R6322:Zbtb17'
| ID |
510145 |
| 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 |
044476-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6322 (G1)
|
| Quality Score |
174.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
141171984-141195248 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 141190694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 171
(G171S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006377]
[ENSMUST00000078886]
[ENSMUST00000105786]
|
| AlphaFold |
Q60821 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006377
AA Change: G171S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: G171S
| 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: ENSMUST00000142695
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144899
|
| Meta Mutation Damage Score |
0.0800 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
98% (51/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,559,843 (GRCm39) |
V211A |
probably benign |
Het |
| Adora3 |
G |
A |
3: 105,814,760 (GRCm39) |
R170H |
probably benign |
Het |
| Aldh1l1 |
T |
C |
6: 90,539,680 (GRCm39) |
I203T |
probably benign |
Het |
| Alox12b |
T |
C |
11: 69,049,199 (GRCm39) |
Y83H |
possibly damaging |
Het |
| Atcay |
A |
T |
10: 81,049,125 (GRCm39) |
I159K |
probably damaging |
Het |
| Blvra |
A |
G |
2: 126,922,459 (GRCm39) |
|
probably benign |
Het |
| Catspere2 |
T |
A |
1: 177,845,296 (GRCm39) |
Y105* |
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,319,890 (GRCm39) |
F974S |
probably damaging |
Het |
| Cfap44 |
C |
T |
16: 44,254,029 (GRCm39) |
R918* |
probably null |
Het |
| Cpa6 |
T |
A |
1: 10,547,346 (GRCm39) |
R181S |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,675,297 (GRCm39) |
N730D |
probably damaging |
Het |
| Eif2ak1 |
A |
G |
5: 143,835,913 (GRCm39) |
T535A |
probably benign |
Het |
| Fam13c |
A |
T |
10: 70,334,721 (GRCm39) |
D149V |
probably damaging |
Het |
| Fam171a1 |
G |
A |
2: 3,227,392 (GRCm39) |
V717I |
probably benign |
Het |
| Fchsd1 |
A |
G |
18: 38,098,753 (GRCm39) |
V290A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm15446 |
A |
T |
5: 110,091,383 (GRCm39) |
H545L |
probably damaging |
Het |
| Heatr9 |
T |
G |
11: 83,407,538 (GRCm39) |
K215T |
possibly damaging |
Het |
| Hfe |
T |
A |
13: 23,889,879 (GRCm39) |
H210L |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,066,543 (GRCm39) |
T1113A |
probably damaging |
Het |
| Lipe |
A |
T |
7: 25,079,961 (GRCm39) |
V686E |
probably damaging |
Het |
| Map3k20 |
T |
G |
2: 72,263,814 (GRCm39) |
L488V |
possibly damaging |
Het |
| Moxd1 |
C |
T |
10: 24,160,709 (GRCm39) |
T454I |
probably damaging |
Het |
| Mrpl58 |
C |
T |
11: 115,301,492 (GRCm39) |
R189* |
probably null |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nkx1-1 |
T |
C |
5: 33,588,389 (GRCm39) |
N300D |
probably damaging |
Het |
| Nrm |
A |
T |
17: 36,175,605 (GRCm39) |
Q237L |
possibly damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,127 (GRCm39) |
L1286P |
probably damaging |
Het |
| Or4f4-ps1 |
T |
C |
2: 111,329,729 (GRCm39) |
F44S |
possibly damaging |
Het |
| Pappa |
C |
A |
4: 65,232,896 (GRCm39) |
A1345D |
probably damaging |
Het |
| Pds5a |
T |
C |
5: 65,854,177 (GRCm39) |
I22V |
probably benign |
Het |
| Phf21b |
C |
A |
15: 84,671,580 (GRCm39) |
R438L |
possibly damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,383,567 (GRCm39) |
L462P |
probably benign |
Het |
| Plagl2 |
T |
C |
2: 153,073,806 (GRCm39) |
E365G |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,436,675 (GRCm39) |
Y677C |
possibly damaging |
Het |
| Pramel13 |
A |
G |
4: 144,119,475 (GRCm39) |
M364T |
probably benign |
Het |
| Prkcd |
C |
A |
14: 30,321,620 (GRCm39) |
G410W |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,428,186 (GRCm39) |
I348V |
probably damaging |
Het |
| Rnmt |
C |
T |
18: 68,452,285 (GRCm39) |
P386S |
probably damaging |
Het |
| Rtn3 |
G |
A |
19: 7,435,503 (GRCm39) |
P163L |
possibly damaging |
Het |
| Sfxn1 |
T |
C |
13: 54,258,869 (GRCm39) |
C275R |
possibly damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,253,042 (GRCm39) |
S377P |
probably damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,715 (GRCm39) |
P615S |
probably damaging |
Het |
| Simc1 |
T |
C |
13: 54,698,382 (GRCm39) |
L1334S |
probably damaging |
Het |
| Slc9a2 |
C |
A |
1: 40,781,813 (GRCm39) |
Y347* |
probably null |
Het |
| Snapc5 |
T |
A |
9: 64,089,455 (GRCm39) |
I71K |
probably damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,764 (GRCm39) |
F447S |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,442,147 (GRCm39) |
C739R |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,983,808 (GRCm39) |
V28D |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,786,429 (GRCm39) |
Q848* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTAGAGAAGTACCTAGGGGTC -3'
(R):5'- TTATGGGCGTGCATACCACC -3'
Sequencing Primer
(F):5'- AAGTACCTAGGGGTCCTGAG -3'
(R):5'- GTGCATACCACCAACCTCTCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation