Incidental Mutation 'R5843:Zbtb47'
| ID |
450548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb47
|
| Ensembl Gene |
ENSMUSG00000013419 |
| Gene Name |
zinc finger and BTB domain containing 47 |
| Synonyms |
4732420M22Rik, Zfp651 |
| MMRRC Submission |
043224-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R5843 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121588396-121600808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121596405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 624
(F624S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093772]
|
| AlphaFold |
E9PZ11 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093772
AA Change: F624S
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091286
Gene: ENSMUSG00000013419
AA Change: F624S
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,537,272 (GRCm39) |
T93A |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,232,312 (GRCm39) |
|
probably null |
Het |
| Ccnk |
T |
C |
12: 108,159,989 (GRCm39) |
V157A |
probably damaging |
Het |
| Cdh10 |
T |
C |
15: 18,985,286 (GRCm39) |
F317L |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,510,092 (GRCm39) |
I139T |
probably benign |
Het |
| Creld2 |
A |
T |
15: 88,710,632 (GRCm39) |
D349V |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,854,289 (GRCm39) |
D1660G |
probably damaging |
Het |
| Hipk3 |
A |
C |
2: 104,270,569 (GRCm39) |
S470R |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,912 (GRCm39) |
I37K |
probably damaging |
Het |
| Hpcal1 |
T |
C |
12: 17,841,200 (GRCm39) |
F193L |
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,497,296 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,375,828 (GRCm39) |
N1349S |
probably benign |
Het |
| Khk |
A |
G |
5: 31,079,275 (GRCm39) |
I6V |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,818,896 (GRCm39) |
V629A |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,626,421 (GRCm39) |
Y320C |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,333 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,076 (GRCm39) |
R234S |
probably benign |
Het |
| Or5ac21 |
T |
A |
16: 59,123,724 (GRCm39) |
D69E |
probably damaging |
Het |
| Parpbp |
A |
G |
10: 87,969,053 (GRCm39) |
L131P |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,454,093 (GRCm39) |
W24R |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,369,060 (GRCm39) |
N677K |
probably damaging |
Het |
| Rbm39 |
A |
T |
2: 156,004,793 (GRCm39) |
D181E |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,042,293 (GRCm39) |
T220A |
possibly damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,021 (GRCm39) |
I274V |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,661,938 (GRCm39) |
N257I |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,080,113 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
T |
C |
1: 180,800,398 (GRCm39) |
|
probably null |
Het |
| Traf5 |
T |
C |
1: 191,729,446 (GRCm39) |
D535G |
possibly damaging |
Het |
| Trank1 |
C |
T |
9: 111,194,928 (GRCm39) |
S984L |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,833,539 (GRCm39) |
T1573A |
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,550,360 (GRCm39) |
I835N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,290,947 (GRCm39) |
I125N |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,307,129 (GRCm39) |
|
probably benign |
Het |
| Zc3h12c |
G |
T |
9: 52,027,982 (GRCm39) |
T460K |
probably benign |
Het |
| Zfp865 |
C |
A |
7: 5,033,416 (GRCm39) |
T467K |
probably benign |
Het |
| Zim1 |
A |
G |
7: 6,680,697 (GRCm39) |
V322A |
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 |
|
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 |
|
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'- ACCTTAGGAAACACTGGCCTAC -3'
(R):5'- CGATGCCGCTTCATATTGGG -3'
Sequencing Primer
(F):5'- ACTGGCCTACACACAGGTTG -3'
(R):5'- TGGTGAAACTCTTGCCACAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation