Incidental Mutation 'R4275:Zbtb47'
| ID |
324761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb47
|
| Ensembl Gene |
ENSMUSG00000013419 |
| Gene Name |
zinc finger and BTB domain containing 47 |
| Synonyms |
4732420M22Rik, Zfp651 |
| MMRRC Submission |
041646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R4275 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
121588396-121600808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121595605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 576
(V576D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093772]
|
| AlphaFold |
E9PZ11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093772
AA Change: V576D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091286
Gene: ENSMUSG00000013419
AA Change: V576D
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1e |
T |
C |
1: 154,369,071 (GRCm39) |
Y322C |
probably damaging |
Het |
| Camsap2 |
A |
G |
1: 136,198,614 (GRCm39) |
V1462A |
probably benign |
Het |
| D3Ertd751e |
C |
A |
3: 41,710,589 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
C |
T |
7: 143,396,964 (GRCm39) |
A152V |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,125,927 (GRCm39) |
N68K |
probably benign |
Het |
| Fam131b |
G |
A |
6: 42,298,241 (GRCm39) |
L43F |
probably damaging |
Het |
| Fbxl5 |
T |
A |
5: 43,920,114 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,569,092 (GRCm39) |
T440A |
probably benign |
Het |
| Igf2 |
T |
C |
7: 142,209,523 (GRCm39) |
M46V |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,905,842 (GRCm39) |
Y367N |
probably damaging |
Het |
| Mapk8ip2 |
T |
C |
15: 89,343,198 (GRCm39) |
W647R |
probably damaging |
Het |
| Mettl21c |
C |
T |
1: 44,049,716 (GRCm39) |
V110I |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,096,114 (GRCm39) |
L118P |
probably damaging |
Het |
| Myadm |
A |
G |
7: 3,345,618 (GRCm39) |
T127A |
probably benign |
Het |
| Myh10 |
A |
T |
11: 68,642,766 (GRCm39) |
|
probably null |
Het |
| Nadk |
T |
A |
4: 155,668,712 (GRCm39) |
Y128N |
probably benign |
Het |
| Or5g27 |
T |
C |
2: 85,410,207 (GRCm39) |
V208A |
probably benign |
Het |
| Or8k39 |
T |
C |
2: 86,563,936 (GRCm39) |
T7A |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,818,378 (GRCm39) |
I500T |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,128,608 (GRCm39) |
C4032S |
probably benign |
Het |
| Rnase1 |
A |
T |
14: 51,383,327 (GRCm39) |
L9Q |
probably damaging |
Het |
| Rspry1 |
G |
T |
8: 95,376,389 (GRCm39) |
V304L |
probably benign |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Scpep1 |
T |
C |
11: 88,837,968 (GRCm39) |
|
probably null |
Het |
| Serpina3m |
T |
A |
12: 104,355,375 (GRCm39) |
I14N |
probably damaging |
Het |
| Smg6 |
A |
C |
11: 74,884,700 (GRCm39) |
|
probably benign |
Het |
| Suz12 |
T |
C |
11: 79,920,879 (GRCm39) |
M593T |
probably damaging |
Het |
| Tmem139 |
A |
G |
6: 42,241,039 (GRCm39) |
E208G |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,917,205 (GRCm39) |
Y2200C |
probably damaging |
Het |
| Usp19 |
T |
G |
9: 108,375,893 (GRCm39) |
V911G |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,493,684 (GRCm39) |
L245P |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,902 (GRCm39) |
I92F |
probably damaging |
Het |
| Zfp518b |
A |
G |
5: 38,829,071 (GRCm39) |
V978A |
probably 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 |
|
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'- TCTAGAAAAGCGTGGGGTGC -3'
(R):5'- AGGCCTGCAAAGAAACATTTCC -3'
Sequencing Primer
(F):5'- CCTGAAGAAGTGACGTCT -3'
(R):5'- GAATAGAAGCCCTGCTCCTCCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation