Incidental Mutation 'R3843:Zbtb47'
ID |
277253 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb47
|
Ensembl Gene |
ENSMUSG00000013419 |
Gene Name |
zinc finger and BTB domain containing 47 |
Synonyms |
4732420M22Rik, Zfp651 |
MMRRC Submission |
040783-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R3843 (G1)
|
Quality Score |
207 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
121588396-121600808 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121592499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 273
(V273E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093772]
|
AlphaFold |
E9PZ11 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093772
AA Change: V273E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000091286 Gene: ENSMUSG00000013419 AA Change: V273E
Domain | Start | End | E-Value | Type |
BTB
|
45 |
141 |
3.69e-19 |
SMART |
low complexity region
|
159 |
164 |
N/A |
INTRINSIC |
low complexity region
|
197 |
210 |
N/A |
INTRINSIC |
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
low complexity region
|
302 |
339 |
N/A |
INTRINSIC |
low complexity region
|
355 |
372 |
N/A |
INTRINSIC |
ZnF_C2H2
|
447 |
470 |
1.28e-3 |
SMART |
ZnF_C2H2
|
474 |
494 |
8.4e1 |
SMART |
ZnF_C2H2
|
501 |
524 |
1.76e-1 |
SMART |
ZnF_C2H2
|
531 |
553 |
3.34e-2 |
SMART |
ZnF_C2H2
|
559 |
581 |
6.78e-3 |
SMART |
ZnF_C2H2
|
587 |
609 |
3.63e-3 |
SMART |
ZnF_C2H2
|
615 |
637 |
1.95e-3 |
SMART |
ZnF_C2H2
|
643 |
665 |
6.62e-6 |
SMART |
ZnF_C2H2
|
671 |
698 |
4.16e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181325
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213743
|
Predicted Effect |
unknown
Transcript: ENSMUST00000214732
AA Change: V308E
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215081
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216791
|
Meta Mutation Damage Score |
0.0770 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,092,495 (GRCm39) |
Y168* |
probably null |
Het |
Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
Arid2 |
C |
T |
15: 96,249,721 (GRCm39) |
T145I |
possibly damaging |
Het |
Ccdc8 |
T |
C |
7: 16,729,039 (GRCm39) |
V176A |
probably damaging |
Het |
Cdhr1 |
G |
T |
14: 36,806,884 (GRCm39) |
F440L |
probably benign |
Het |
Ckap2 |
A |
T |
8: 22,665,774 (GRCm39) |
N424K |
probably damaging |
Het |
Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
Dennd1b |
C |
A |
1: 138,981,092 (GRCm39) |
P102Q |
probably damaging |
Het |
E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
Eef1akmt2 |
C |
T |
7: 132,433,305 (GRCm39) |
V134I |
probably damaging |
Het |
Elp3 |
A |
T |
14: 65,802,932 (GRCm39) |
|
probably null |
Het |
Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
Heatr1 |
T |
C |
13: 12,450,002 (GRCm39) |
Y1999H |
probably benign |
Het |
Hectd4 |
G |
T |
5: 121,397,936 (GRCm39) |
W288L |
possibly damaging |
Het |
Hnf4g |
G |
A |
3: 3,716,362 (GRCm39) |
C262Y |
probably benign |
Het |
Hrh4 |
A |
G |
18: 13,155,343 (GRCm39) |
Y294C |
possibly damaging |
Het |
Igkv5-39 |
C |
A |
6: 69,877,526 (GRCm39) |
G77W |
probably damaging |
Het |
Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,755,742 (GRCm39) |
L1952P |
probably damaging |
Het |
Lgr4 |
C |
T |
2: 109,827,118 (GRCm39) |
|
probably benign |
Het |
Nlrc3 |
G |
A |
16: 3,782,828 (GRCm39) |
R194W |
probably benign |
Het |
Nup214 |
T |
C |
2: 31,941,112 (GRCm39) |
F547L |
probably damaging |
Het |
Or5m3 |
A |
G |
2: 85,838,548 (GRCm39) |
I143V |
probably benign |
Het |
Pdp1 |
T |
C |
4: 11,961,961 (GRCm39) |
K117E |
probably benign |
Het |
Phtf2 |
G |
A |
5: 20,979,020 (GRCm39) |
A31V |
probably damaging |
Het |
Pip4p2 |
T |
A |
4: 14,886,553 (GRCm39) |
Y42* |
probably null |
Het |
Pkhd1 |
A |
T |
1: 20,628,947 (GRCm39) |
C667S |
probably benign |
Het |
Pnp2 |
T |
A |
14: 51,200,878 (GRCm39) |
L121Q |
probably null |
Het |
Ppfia1 |
C |
T |
7: 144,058,707 (GRCm39) |
R698Q |
probably benign |
Het |
Sidt1 |
A |
T |
16: 44,104,587 (GRCm39) |
F275I |
probably benign |
Het |
Slc50a1 |
A |
T |
3: 89,177,207 (GRCm39) |
I70N |
probably damaging |
Het |
Sytl2 |
C |
G |
7: 90,009,367 (GRCm39) |
T123R |
possibly damaging |
Het |
Tlk1 |
T |
A |
2: 70,579,671 (GRCm39) |
T214S |
probably benign |
Het |
Tmco3 |
A |
G |
8: 13,346,114 (GRCm39) |
|
probably benign |
Het |
Trim71 |
T |
C |
9: 114,344,914 (GRCm39) |
T335A |
probably benign |
Het |
|
Other mutations in Zbtb47 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01913:Zbtb47
|
APN |
9 |
121,593,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R0193:Zbtb47
|
UTSW |
9 |
121,596,732 (GRCm39) |
missense |
probably damaging |
0.98 |
R0270:Zbtb47
|
UTSW |
9 |
121,596,641 (GRCm39) |
missense |
probably benign |
0.27 |
R0347:Zbtb47
|
UTSW |
9 |
121,592,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R0654:Zbtb47
|
UTSW |
9 |
121,592,327 (GRCm39) |
missense |
probably benign |
0.01 |
R2202:Zbtb47
|
UTSW |
9 |
121,591,703 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2203:Zbtb47
|
UTSW |
9 |
121,591,703 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2204:Zbtb47
|
UTSW |
9 |
121,591,703 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2205:Zbtb47
|
UTSW |
9 |
121,591,703 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2364:Zbtb47
|
UTSW |
9 |
121,596,660 (GRCm39) |
missense |
probably damaging |
0.98 |
R4275:Zbtb47
|
UTSW |
9 |
121,595,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R4934:Zbtb47
|
UTSW |
9 |
121,593,045 (GRCm39) |
missense |
probably damaging |
0.99 |
R5358:Zbtb47
|
UTSW |
9 |
121,594,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R5462:Zbtb47
|
UTSW |
9 |
121,596,729 (GRCm39) |
missense |
probably damaging |
0.99 |
R5613:Zbtb47
|
UTSW |
9 |
121,596,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R5843:Zbtb47
|
UTSW |
9 |
121,596,405 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5863:Zbtb47
|
UTSW |
9 |
121,596,596 (GRCm39) |
missense |
probably benign |
0.22 |
R6009:Zbtb47
|
UTSW |
9 |
121,591,937 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6063:Zbtb47
|
UTSW |
9 |
121,592,598 (GRCm39) |
missense |
probably benign |
0.01 |
R6114:Zbtb47
|
UTSW |
9 |
121,594,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R6223:Zbtb47
|
UTSW |
9 |
121,592,853 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6414:Zbtb47
|
UTSW |
9 |
121,592,725 (GRCm39) |
missense |
probably benign |
|
R6811:Zbtb47
|
UTSW |
9 |
121,595,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R7394:Zbtb47
|
UTSW |
9 |
121,596,411 (GRCm39) |
missense |
probably damaging |
0.98 |
R7430:Zbtb47
|
UTSW |
9 |
121,592,732 (GRCm39) |
missense |
probably benign |
0.02 |
R8215:Zbtb47
|
UTSW |
9 |
121,596,344 (GRCm39) |
missense |
probably benign |
0.40 |
R8900:Zbtb47
|
UTSW |
9 |
121,596,705 (GRCm39) |
missense |
probably damaging |
0.99 |
R8982:Zbtb47
|
UTSW |
9 |
121,592,334 (GRCm39) |
missense |
probably benign |
0.26 |
R9623:Zbtb47
|
UTSW |
9 |
121,591,990 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGACACTCTTCAAGGAGGAG -3'
(R):5'- CGTGTGGACATTCGGCTATG -3'
Sequencing Primer
(F):5'- CACTCTTCAAGGAGGAGAAGGAAG -3'
(R):5'- ATCCTCTCGATGATCGCTGGG -3'
|
Posted On |
2015-04-06 |