Incidental Mutation 'R5462:Zbtb47'
| ID |
433071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb47
|
| Ensembl Gene |
ENSMUSG00000013419 |
| Gene Name |
zinc finger and BTB domain containing 47 |
| Synonyms |
4732420M22Rik, Zfp651 |
| MMRRC Submission |
043024-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R5462 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121588396-121600808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121596729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 695
(R695L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093772]
|
| AlphaFold |
E9PZ11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093772
AA Change: R695L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091286
Gene: ENSMUSG00000013419
AA Change: R695L
| 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: ENSMUST00000213743
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214732
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215081
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
| 4933412E24Rik |
A |
G |
15: 59,886,917 (GRCm39) |
F508L |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Amz1 |
A |
G |
5: 140,733,976 (GRCm39) |
Y184C |
probably damaging |
Het |
| Calm3 |
A |
T |
7: 16,651,619 (GRCm39) |
D23E |
possibly damaging |
Het |
| Cep112 |
T |
A |
11: 108,409,570 (GRCm39) |
N479K |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,436,695 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
A |
C |
8: 16,011,486 (GRCm39) |
N2522K |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 109,930,042 (GRCm39) |
L18P |
probably damaging |
Het |
| E2f2 |
A |
T |
4: 135,900,224 (GRCm39) |
T45S |
probably benign |
Het |
| Grk3 |
T |
C |
5: 113,117,074 (GRCm39) |
Y67C |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,042,851 (GRCm39) |
C2290* |
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,233,175 (GRCm39) |
T1853A |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,164,655 (GRCm39) |
L1587P |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,720,897 (GRCm39) |
N2337D |
probably benign |
Het |
| Mettl3 |
T |
C |
14: 52,537,336 (GRCm39) |
Q182R |
probably damaging |
Het |
| Mterf1b |
A |
G |
5: 4,246,541 (GRCm39) |
S61G |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,437,562 (GRCm39) |
Y2100C |
probably damaging |
Het |
| Nt5m |
T |
A |
11: 59,765,385 (GRCm39) |
W138R |
probably damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,640 (GRCm39) |
Y252C |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,486,728 (GRCm39) |
Y114H |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,453,971 (GRCm39) |
S322T |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,857,171 (GRCm39) |
D373E |
probably damaging |
Het |
| Snx29 |
A |
T |
16: 11,328,876 (GRCm39) |
M552L |
possibly damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,050,520 (GRCm39) |
F2356L |
possibly damaging |
Het |
| Tbc1d10c |
G |
T |
19: 4,238,052 (GRCm39) |
Q241K |
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,417,045 (GRCm39) |
I56T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,238 (GRCm39) |
Y753C |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,220,973 (GRCm39) |
W297R |
probably damaging |
Het |
| Zfp267 |
C |
T |
3: 36,219,969 (GRCm39) |
T664I |
possibly damaging |
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 |
|
R3843:Zbtb47
|
UTSW |
9 |
121,592,499 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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'- AGGGGAGAAGCCTTATATCTGTG -3'
(R):5'- CTTTTACTCCCAAGCACAAGG -3'
Sequencing Primer
(F):5'- GAGATCTGTGGCAAGAGTTTCACC -3'
(R):5'- GAGTAAAATCTCCAAGAAGCTGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation