Incidental Mutation 'R2517:Zbtb17'
| ID |
253907 |
| 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 |
040421-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2517 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141171984-141195248 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 141191896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 309
(T309I)
|
| 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: T309I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006377
Gene: ENSMUSG00000006215
AA Change: T309I
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
C |
A |
14: 56,019,403 (GRCm39) |
E82D |
probably damaging |
Het |
| Ago1 |
G |
A |
4: 126,333,732 (GRCm39) |
R486* |
probably null |
Het |
| Ago2 |
T |
A |
15: 72,996,091 (GRCm39) |
N346I |
possibly damaging |
Het |
| Apol11a |
A |
T |
15: 77,401,395 (GRCm39) |
D294V |
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,116,215 (GRCm39) |
F634L |
possibly damaging |
Het |
| Atp2a2 |
G |
A |
5: 122,595,576 (GRCm39) |
P953L |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,463,137 (GRCm39) |
D967G |
probably benign |
Het |
| Bud13 |
A |
T |
9: 46,199,446 (GRCm39) |
H269L |
probably benign |
Het |
| Cachd1 |
A |
T |
4: 100,838,079 (GRCm39) |
|
probably null |
Het |
| Cog3 |
T |
C |
14: 75,979,182 (GRCm39) |
D188G |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,208,492 (GRCm39) |
S20P |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,658,431 (GRCm39) |
D838G |
unknown |
Het |
| Cwh43 |
A |
T |
5: 73,578,886 (GRCm39) |
T298S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,659,041 (GRCm39) |
R847G |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,407,470 (GRCm39) |
D438N |
probably damaging |
Het |
| Drg2 |
T |
C |
11: 60,358,954 (GRCm39) |
V358A |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,171,168 (GRCm39) |
W220R |
probably damaging |
Het |
| Enpp2 |
A |
T |
15: 54,783,090 (GRCm39) |
I75K |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,238 (GRCm39) |
I400T |
probably damaging |
Het |
| Fam193b |
C |
A |
13: 55,690,629 (GRCm39) |
R711L |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,053,462 (GRCm39) |
Y246H |
probably damaging |
Het |
| Frs3 |
G |
A |
17: 48,013,997 (GRCm39) |
R230Q |
probably benign |
Het |
| Galnt5 |
A |
G |
2: 57,889,425 (GRCm39) |
K342E |
probably benign |
Het |
| Glrb |
A |
T |
3: 80,769,054 (GRCm39) |
L189Q |
probably damaging |
Het |
| Gmeb2 |
T |
C |
2: 180,900,819 (GRCm39) |
T193A |
probably benign |
Het |
| Gnl3 |
A |
G |
14: 30,736,120 (GRCm39) |
S307P |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,800,166 (GRCm39) |
F443I |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Klf10 |
A |
C |
15: 38,297,357 (GRCm39) |
Y228D |
probably benign |
Het |
| Klrc3 |
A |
T |
6: 129,616,520 (GRCm39) |
W166R |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,807,065 (GRCm39) |
I378N |
probably benign |
Het |
| Map3k10 |
T |
C |
7: 27,362,688 (GRCm39) |
K466R |
possibly damaging |
Het |
| Mrrf |
C |
T |
2: 36,079,109 (GRCm39) |
T245M |
probably benign |
Het |
| Msi1 |
A |
G |
5: 115,583,517 (GRCm39) |
Y239C |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,525,501 (GRCm39) |
|
probably null |
Het |
| Or1x6 |
T |
A |
11: 50,939,300 (GRCm39) |
L122Q |
probably damaging |
Het |
| Or7g25 |
A |
T |
9: 19,160,357 (GRCm39) |
C113S |
probably benign |
Het |
| P3r3urf |
A |
G |
4: 116,030,791 (GRCm39) |
D65G |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,908,900 (GRCm39) |
E368G |
unknown |
Het |
| Polq |
G |
A |
16: 36,909,687 (GRCm39) |
G2078D |
probably damaging |
Het |
| Ppfibp1 |
A |
C |
6: 146,893,942 (GRCm39) |
I134L |
probably damaging |
Het |
| Rasip1 |
A |
T |
7: 45,284,247 (GRCm39) |
I608F |
probably damaging |
Het |
| Ripk3 |
A |
T |
14: 56,025,492 (GRCm39) |
V24E |
probably damaging |
Het |
| Rtkn |
T |
A |
6: 83,124,526 (GRCm39) |
I110N |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,104,176 (GRCm39) |
V1695I |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,606,042 (GRCm39) |
N75S |
possibly damaging |
Het |
| Snu13 |
C |
A |
15: 81,928,182 (GRCm39) |
A14S |
probably benign |
Het |
| Snx27 |
A |
C |
3: 94,438,541 (GRCm39) |
D231E |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,725,283 (GRCm39) |
I158T |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,696,643 (GRCm39) |
I19T |
possibly damaging |
Het |
| Ssu72 |
T |
C |
4: 155,817,970 (GRCm39) |
L175P |
probably damaging |
Het |
| Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
| Tecr |
C |
T |
8: 84,299,204 (GRCm39) |
V248I |
probably benign |
Het |
| Tnfrsf13b |
T |
G |
11: 61,032,302 (GRCm39) |
S59A |
probably benign |
Het |
| Tom1l1 |
T |
C |
11: 90,561,951 (GRCm39) |
T150A |
possibly damaging |
Het |
| Ubr3 |
A |
T |
2: 69,766,362 (GRCm39) |
Y410F |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,577 (GRCm39) |
I93T |
probably damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
| Vstm4 |
T |
A |
14: 32,585,664 (GRCm39) |
M77K |
probably benign |
Het |
| Zfp957 |
T |
C |
14: 79,451,494 (GRCm39) |
T102A |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGAAGAGTCTGCCGGCAC -3'
(R):5'- ATAGGGTTTCAACGGGCTG -3'
Sequencing Primer
(F):5'- TCTGCCGGCACAGATTCTG -3'
(R):5'- TCAACGGGCTGTGGGTCAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation