Incidental Mutation 'IGL02141:Zbtb17'
| ID |
281545 |
| 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 # |
IGL02141
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
141444654-141467930 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141464953 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 403
(H403R)
|
| 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: H403R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: H403R
| 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: ENSMUST00000147227
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
C |
T |
5: 146,183,465 (GRCm38) |
A188T |
probably benign |
Het |
| 2310022B05Rik |
A |
T |
8: 124,637,906 (GRCm38) |
|
probably benign |
Het |
| 4931423N10Rik |
T |
C |
2: 23,230,200 (GRCm38) |
F203L |
probably damaging |
Het |
| Arntl2 |
T |
A |
6: 146,828,095 (GRCm38) |
|
probably benign |
Het |
| Atf6b |
C |
A |
17: 34,653,277 (GRCm38) |
H539Q |
probably benign |
Het |
| Bpifb5 |
G |
T |
2: 154,229,557 (GRCm38) |
|
probably null |
Het |
| Cep89 |
T |
A |
7: 35,420,924 (GRCm38) |
M377K |
probably damaging |
Het |
| Clpx |
G |
T |
9: 65,312,118 (GRCm38) |
|
probably null |
Het |
| Cops5 |
T |
C |
1: 10,035,117 (GRCm38) |
K47E |
probably damaging |
Het |
| Cryba2 |
T |
C |
1: 74,892,784 (GRCm38) |
N35S |
probably benign |
Het |
| Ddx27 |
A |
G |
2: 167,020,523 (GRCm38) |
K162E |
possibly damaging |
Het |
| Dhx36 |
A |
G |
3: 62,493,889 (GRCm38) |
S319P |
probably benign |
Het |
| Dram2 |
A |
G |
3: 106,571,696 (GRCm38) |
|
probably benign |
Het |
| Eci2 |
T |
A |
13: 34,978,673 (GRCm38) |
T300S |
probably benign |
Het |
| Egf |
C |
A |
3: 129,739,982 (GRCm38) |
G70* |
probably null |
Het |
| Eif5b |
T |
C |
1: 38,032,322 (GRCm38) |
V444A |
probably benign |
Het |
| Elf3 |
T |
C |
1: 135,257,707 (GRCm38) |
D23G |
possibly damaging |
Het |
| Epb41l4b |
A |
T |
4: 57,103,422 (GRCm38) |
|
probably null |
Het |
| Fam167a |
T |
A |
14: 63,452,259 (GRCm38) |
S2T |
probably benign |
Het |
| Flrt3 |
A |
G |
2: 140,660,688 (GRCm38) |
V340A |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,765,378 (GRCm38) |
E206G |
probably benign |
Het |
| Gp6 |
T |
C |
7: 4,394,104 (GRCm38) |
|
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,783,290 (GRCm38) |
M581L |
probably damaging |
Het |
| Hapln3 |
A |
G |
7: 79,118,145 (GRCm38) |
V167A |
probably damaging |
Het |
| Hnrnpll |
G |
A |
17: 80,050,713 (GRCm38) |
T203I |
probably benign |
Het |
| Ighv3-6 |
A |
G |
12: 114,288,362 (GRCm38) |
I47T |
probably damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,738,121 (GRCm38) |
T926M |
probably damaging |
Het |
| Lonp1 |
A |
T |
17: 56,615,086 (GRCm38) |
S765T |
probably benign |
Het |
| Lpp |
C |
T |
16: 24,761,615 (GRCm38) |
S27F |
probably damaging |
Het |
| Lrit2 |
T |
C |
14: 37,068,074 (GRCm38) |
|
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,253,080 (GRCm38) |
T17K |
probably damaging |
Het |
| Mroh1 |
G |
T |
15: 76,446,599 (GRCm38) |
S1161I |
possibly damaging |
Het |
| Muc5b |
T |
G |
7: 141,853,367 (GRCm38) |
C1091G |
unknown |
Het |
| Mut |
A |
G |
17: 40,938,817 (GRCm38) |
T228A |
possibly damaging |
Het |
| Nppb |
A |
T |
4: 147,986,006 (GRCm38) |
I11F |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,828,525 (GRCm38) |
D650E |
probably benign |
Het |
| Ogdh |
A |
G |
11: 6,355,015 (GRCm38) |
K907E |
probably damaging |
Het |
| Olfr1351 |
A |
G |
10: 79,017,721 (GRCm38) |
Y133C |
probably damaging |
Het |
| Olfr344 |
A |
G |
2: 36,568,808 (GRCm38) |
D70G |
probably damaging |
Het |
| Olfr362 |
G |
A |
2: 37,105,425 (GRCm38) |
S75F |
probably benign |
Het |
| Pcnx |
A |
T |
12: 81,860,382 (GRCm38) |
Q4L |
possibly damaging |
Het |
| Pgc |
T |
A |
17: 47,726,931 (GRCm38) |
L9H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,246,397 (GRCm38) |
S887T |
probably benign |
Het |
| Plec |
T |
C |
15: 76,175,615 (GRCm38) |
D3239G |
probably damaging |
Het |
| Pole4 |
T |
C |
6: 82,648,034 (GRCm38) |
T116A |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,490,672 (GRCm38) |
N300D |
possibly damaging |
Het |
| Rara |
T |
A |
11: 98,968,081 (GRCm38) |
Y119N |
probably damaging |
Het |
| Rbck1 |
G |
T |
2: 152,318,374 (GRCm38) |
R462S |
possibly damaging |
Het |
| Setdb2 |
C |
T |
14: 59,402,315 (GRCm38) |
R709Q |
probably damaging |
Het |
| Slfn2 |
C |
A |
11: 83,069,844 (GRCm38) |
N216K |
probably benign |
Het |
| Suox |
A |
G |
10: 128,672,098 (GRCm38) |
|
probably benign |
Het |
| Tars |
T |
A |
15: 11,391,194 (GRCm38) |
Y283F |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 45,318,179 (GRCm38) |
|
probably null |
Het |
| Ubtd2 |
A |
T |
11: 32,499,262 (GRCm38) |
K36N |
probably benign |
Het |
| Unkl |
T |
C |
17: 25,229,434 (GRCm38) |
L327P |
probably damaging |
Het |
| Vmn1r11 |
T |
A |
6: 57,137,379 (GRCm38) |
Y9* |
probably null |
Het |
| Vps13b |
T |
C |
15: 35,572,081 (GRCm38) |
V948A |
probably benign |
Het |
|
| Other mutations in Zbtb17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01137:Zbtb17
|
APN |
4 |
141,466,367 (GRCm38) |
nonsense |
probably null |
|
|
IGL01449:Zbtb17
|
APN |
4 |
141,463,305 (GRCm38) |
missense |
probably benign |
|
|
IGL01835:Zbtb17
|
APN |
4 |
141,465,438 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02142:Zbtb17
|
APN |
4 |
141,464,982 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL02167:Zbtb17
|
APN |
4 |
141,461,829 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02388:Zbtb17
|
APN |
4 |
141,461,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02600:Zbtb17
|
APN |
4 |
141,466,885 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL02617:Zbtb17
|
APN |
4 |
141,465,088 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03290:Zbtb17
|
APN |
4 |
141,466,933 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03391:Zbtb17
|
APN |
4 |
141,466,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02799:Zbtb17
|
UTSW |
4 |
141,463,380 (GRCm38) |
missense |
probably benign |
0.20 |
|
R0698:Zbtb17
|
UTSW |
4 |
141,466,096 (GRCm38) |
splice site |
probably null |
|
|
R0736:Zbtb17
|
UTSW |
4 |
141,461,786 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1924:Zbtb17
|
UTSW |
4 |
141,464,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1940:Zbtb17
|
UTSW |
4 |
141,465,548 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R2164:Zbtb17
|
UTSW |
4 |
141,464,246 (GRCm38) |
missense |
probably benign |
|
|
R2517:Zbtb17
|
UTSW |
4 |
141,464,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3424:Zbtb17
|
UTSW |
4 |
141,464,988 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3884:Zbtb17
|
UTSW |
4 |
141,464,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4609:Zbtb17
|
UTSW |
4 |
141,466,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5055:Zbtb17
|
UTSW |
4 |
141,466,549 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R5327:Zbtb17
|
UTSW |
4 |
141,465,631 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5363:Zbtb17
|
UTSW |
4 |
141,466,761 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5987:Zbtb17
|
UTSW |
4 |
141,464,817 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6038:Zbtb17
|
UTSW |
4 |
141,464,441 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6038:Zbtb17
|
UTSW |
4 |
141,464,441 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6311:Zbtb17
|
UTSW |
4 |
141,463,383 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6320:Zbtb17
|
UTSW |
4 |
141,463,383 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6321:Zbtb17
|
UTSW |
4 |
141,463,383 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6322:Zbtb17
|
UTSW |
4 |
141,463,383 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6337:Zbtb17
|
UTSW |
4 |
141,463,383 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6365:Zbtb17
|
UTSW |
4 |
141,463,383 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6492:Zbtb17
|
UTSW |
4 |
141,463,383 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6605:Zbtb17
|
UTSW |
4 |
141,464,950 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6695:Zbtb17
|
UTSW |
4 |
141,461,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7717:Zbtb17
|
UTSW |
4 |
141,466,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7999:Zbtb17
|
UTSW |
4 |
141,461,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8542:Zbtb17
|
UTSW |
4 |
141,466,828 (GRCm38) |
unclassified |
probably benign |
|
|
R8544:Zbtb17
|
UTSW |
4 |
141,466,828 (GRCm38) |
unclassified |
probably benign |
|
|
R8545:Zbtb17
|
UTSW |
4 |
141,466,828 (GRCm38) |
unclassified |
probably benign |
|
|
R8836:Zbtb17
|
UTSW |
4 |
141,461,922 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R9072:Zbtb17
|
UTSW |
4 |
141,466,365 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R9073:Zbtb17
|
UTSW |
4 |
141,466,365 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R9389:Zbtb17
|
UTSW |
4 |
141,465,820 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9785:Zbtb17
|
UTSW |
4 |
141,466,960 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
Z1176:Zbtb17
|
UTSW |
4 |
141,463,679 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation