Incidental Mutation 'R3617:Zbtb49'
ID |
473063 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb49
|
Ensembl Gene |
ENSMUSG00000029127 |
Gene Name |
zinc finger and BTB domain containing 49 |
Synonyms |
Zfp509, 4930518A03Rik |
MMRRC Submission |
040674-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R3617 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
38347076-38377798 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 38357975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094833]
[ENSMUST00000123106]
[ENSMUST00000126267]
[ENSMUST00000136475]
[ENSMUST00000138820]
[ENSMUST00000143436]
|
AlphaFold |
Q8BXX2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094833
|
SMART Domains |
Protein: ENSMUSP00000092429 Gene: ENSMUSG00000029127
Domain | Start | End | E-Value | Type |
BTB
|
25 |
121 |
2.97e-23 |
SMART |
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
ZnF_C2H2
|
414 |
436 |
6.99e-5 |
SMART |
ZnF_C2H2
|
442 |
464 |
2.24e-3 |
SMART |
ZnF_C2H2
|
470 |
492 |
1.26e-2 |
SMART |
ZnF_C2H2
|
498 |
520 |
5.14e-3 |
SMART |
ZnF_C2H2
|
526 |
548 |
2.27e-4 |
SMART |
ZnF_C2H2
|
554 |
576 |
3.39e-3 |
SMART |
low complexity region
|
597 |
614 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123106
|
SMART Domains |
Protein: ENSMUSP00000144200 Gene: ENSMUSG00000029127
Domain | Start | End | E-Value | Type |
Pfam:BTB
|
12 |
51 |
1.6e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124939
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126267
|
SMART Domains |
Protein: ENSMUSP00000122109 Gene: ENSMUSG00000029127
Domain | Start | End | E-Value | Type |
BTB
|
25 |
121 |
2.97e-23 |
SMART |
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129161
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136475
|
SMART Domains |
Protein: ENSMUSP00000117174 Gene: ENSMUSG00000029127
Domain | Start | End | E-Value | Type |
BTB
|
25 |
121 |
2.97e-23 |
SMART |
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138820
|
SMART Domains |
Protein: ENSMUSP00000117913 Gene: ENSMUSG00000029127
Domain | Start | End | E-Value | Type |
Pfam:BTB
|
13 |
63 |
4.3e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146859
|
SMART Domains |
Protein: ENSMUSP00000114955 Gene: ENSMUSG00000029127
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
11 |
33 |
1.26e-2 |
SMART |
ZnF_C2H2
|
39 |
61 |
5.14e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143436
|
SMART Domains |
Protein: ENSMUSP00000115513 Gene: ENSMUSG00000029127
Domain | Start | End | E-Value | Type |
Pfam:BTB
|
15 |
75 |
1.5e-11 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,625,015 (GRCm39) |
V460A |
probably damaging |
Het |
Aplf |
T |
C |
6: 87,648,865 (GRCm39) |
I25V |
possibly damaging |
Het |
Ascc3 |
A |
G |
10: 50,494,281 (GRCm39) |
T239A |
probably benign |
Het |
Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
Cbfa2t2 |
A |
T |
2: 154,278,904 (GRCm39) |
|
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,100,114 (GRCm39) |
D328G |
probably benign |
Het |
Cdkn1c |
C |
T |
7: 143,013,531 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
A |
G |
7: 139,219,515 (GRCm39) |
S1317P |
probably benign |
Het |
Cntln |
C |
T |
4: 84,923,214 (GRCm39) |
Q560* |
probably null |
Het |
Cntn2 |
G |
C |
1: 132,456,361 (GRCm39) |
A161G |
probably benign |
Het |
Crybg1 |
A |
G |
10: 43,832,782 (GRCm39) |
I1991T |
possibly damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,414,189 (GRCm39) |
E952G |
probably damaging |
Het |
Dhx36 |
T |
C |
3: 62,379,428 (GRCm39) |
T887A |
possibly damaging |
Het |
Dhx36 |
A |
G |
3: 62,394,481 (GRCm39) |
F512L |
probably benign |
Het |
Fthl17f |
A |
G |
X: 8,929,862 (GRCm39) |
T153A |
probably benign |
Het |
Gad1-ps |
T |
A |
10: 99,281,260 (GRCm39) |
|
noncoding transcript |
Het |
Gba2 |
C |
T |
4: 43,573,803 (GRCm39) |
R163H |
probably damaging |
Het |
Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
Gm17019 |
A |
T |
5: 15,081,081 (GRCm39) |
M120K |
possibly damaging |
Het |
Helz2 |
C |
T |
2: 180,874,854 (GRCm39) |
R1880H |
probably damaging |
Het |
Ifi204 |
T |
C |
1: 173,583,283 (GRCm39) |
I312V |
possibly damaging |
Het |
Kncn |
T |
C |
4: 115,743,089 (GRCm39) |
F55L |
probably benign |
Het |
Kndc1 |
G |
A |
7: 139,481,976 (GRCm39) |
|
probably benign |
Het |
Nat8f3 |
C |
A |
6: 85,738,670 (GRCm39) |
A31S |
probably benign |
Het |
Ndst4 |
T |
C |
3: 125,231,782 (GRCm39) |
I117T |
probably benign |
Het |
Ndufa9 |
G |
T |
6: 126,826,071 (GRCm39) |
|
probably benign |
Het |
Nup42 |
T |
C |
5: 24,387,325 (GRCm39) |
S372P |
probably benign |
Het |
Pde6a |
A |
G |
18: 61,364,575 (GRCm39) |
|
probably benign |
Het |
Pigw |
T |
C |
11: 84,769,133 (GRCm39) |
I65M |
probably damaging |
Het |
Pip |
A |
G |
6: 41,828,871 (GRCm39) |
T139A |
probably benign |
Het |
Rel |
A |
T |
11: 23,695,780 (GRCm39) |
D202E |
probably damaging |
Het |
Rhot2 |
A |
G |
17: 26,059,955 (GRCm39) |
|
probably benign |
Het |
Sh3rf3 |
G |
A |
10: 58,922,685 (GRCm39) |
R587Q |
possibly damaging |
Het |
Sim1 |
T |
A |
10: 50,785,624 (GRCm39) |
M231K |
probably damaging |
Het |
Slc12a9 |
G |
A |
5: 137,330,759 (GRCm39) |
T47M |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,382,663 (GRCm39) |
D1036G |
probably benign |
Het |
Tas2r143 |
A |
T |
6: 42,377,997 (GRCm39) |
I276F |
probably benign |
Het |
Tgfbr3 |
A |
T |
5: 107,288,485 (GRCm39) |
F392Y |
possibly damaging |
Het |
Tmem266 |
T |
C |
9: 55,307,918 (GRCm39) |
V148A |
probably damaging |
Het |
Ubiad1 |
A |
G |
4: 148,520,817 (GRCm39) |
I269T |
probably benign |
Het |
Vwc2l |
A |
G |
1: 70,768,041 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Zbtb49 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01355:Zbtb49
|
APN |
5 |
38,367,960 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01736:Zbtb49
|
APN |
5 |
38,358,204 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4585001:Zbtb49
|
UTSW |
5 |
38,373,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R0443:Zbtb49
|
UTSW |
5 |
38,358,174 (GRCm39) |
missense |
probably benign |
0.08 |
R0526:Zbtb49
|
UTSW |
5 |
38,371,263 (GRCm39) |
missense |
probably benign |
0.08 |
R0646:Zbtb49
|
UTSW |
5 |
38,358,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R1200:Zbtb49
|
UTSW |
5 |
38,370,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R1678:Zbtb49
|
UTSW |
5 |
38,371,038 (GRCm39) |
missense |
probably damaging |
0.97 |
R1964:Zbtb49
|
UTSW |
5 |
38,361,105 (GRCm39) |
nonsense |
probably null |
|
R2155:Zbtb49
|
UTSW |
5 |
38,371,464 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2483:Zbtb49
|
UTSW |
5 |
38,360,701 (GRCm39) |
intron |
probably benign |
|
R4937:Zbtb49
|
UTSW |
5 |
38,371,307 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5579:Zbtb49
|
UTSW |
5 |
38,358,160 (GRCm39) |
missense |
probably damaging |
0.99 |
R5699:Zbtb49
|
UTSW |
5 |
38,373,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R6354:Zbtb49
|
UTSW |
5 |
38,360,903 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6426:Zbtb49
|
UTSW |
5 |
38,360,431 (GRCm39) |
splice site |
probably null |
|
R6735:Zbtb49
|
UTSW |
5 |
38,358,402 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6805:Zbtb49
|
UTSW |
5 |
38,370,585 (GRCm39) |
intron |
probably benign |
|
R6869:Zbtb49
|
UTSW |
5 |
38,371,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R7020:Zbtb49
|
UTSW |
5 |
38,370,711 (GRCm39) |
nonsense |
probably null |
|
R7899:Zbtb49
|
UTSW |
5 |
38,371,274 (GRCm39) |
nonsense |
probably null |
|
R8041:Zbtb49
|
UTSW |
5 |
38,358,198 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8461:Zbtb49
|
UTSW |
5 |
38,358,453 (GRCm39) |
missense |
probably benign |
0.04 |
R8517:Zbtb49
|
UTSW |
5 |
38,357,997 (GRCm39) |
missense |
probably benign |
0.25 |
R8523:Zbtb49
|
UTSW |
5 |
38,370,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R9068:Zbtb49
|
UTSW |
5 |
38,358,289 (GRCm39) |
missense |
probably benign |
|
R9160:Zbtb49
|
UTSW |
5 |
38,363,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R9301:Zbtb49
|
UTSW |
5 |
38,370,931 (GRCm39) |
missense |
probably benign |
|
R9315:Zbtb49
|
UTSW |
5 |
38,358,082 (GRCm39) |
missense |
probably benign |
0.05 |
R9480:Zbtb49
|
UTSW |
5 |
38,358,409 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
Predicted Primers |
|
Posted On |
2017-04-14 |