Incidental Mutation 'R0654:Zbtb47'
| ID |
62438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb47
|
| Ensembl Gene |
ENSMUSG00000013419 |
| Gene Name |
zinc finger and BTB domain containing 47 |
| Synonyms |
4732420M22Rik, Zfp651 |
| MMRRC Submission |
038839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R0654 (G1)
|
| Quality Score |
111 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121588396-121600808 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121592327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 251
(F251L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093772]
|
| AlphaFold |
E9PZ11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093772
AA Change: F216L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000091286
Gene: ENSMUSG00000013419
AA Change: F216L
| 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 |
probably benign
Transcript: ENSMUST00000214732
AA Change: F251L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216791
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb13 |
A |
C |
13: 3,692,092 (GRCm39) |
H24P |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,527,480 (GRCm39) |
M1K |
probably null |
Het |
| Baz1a |
T |
C |
12: 54,958,182 (GRCm39) |
E1023G |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Cfap157 |
C |
T |
2: 32,669,954 (GRCm39) |
V210M |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,556 (GRCm39) |
I288T |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,076,639 (GRCm39) |
F494S |
possibly damaging |
Het |
| Fibin |
T |
A |
2: 110,192,962 (GRCm39) |
D60V |
probably damaging |
Het |
| Fnd3c2 |
G |
A |
X: 105,290,760 (GRCm39) |
T302I |
possibly damaging |
Het |
| Foxp3 |
A |
G |
X: 7,457,639 (GRCm39) |
I281V |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,372 (GRCm39) |
Q530L |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,313,232 (GRCm39) |
D1824A |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Map3k21 |
C |
A |
8: 126,668,759 (GRCm39) |
L782I |
probably benign |
Het |
| Nphs2 |
A |
C |
1: 156,146,317 (GRCm39) |
T98P |
probably damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,070 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,128,577 (GRCm39) |
S48R |
probably damaging |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,573,017 (GRCm39) |
I305F |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,881,679 (GRCm39) |
N310I |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,692,768 (GRCm39) |
V700A |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,171,915 (GRCm39) |
I140V |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,036,969 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
T |
A |
3: 22,258,158 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
A |
T |
6: 116,019,951 (GRCm39) |
H281Q |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,159,938 (GRCm39) |
M413L |
probably benign |
Het |
| Vmn2r101 |
C |
A |
17: 19,810,373 (GRCm39) |
H386Q |
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 |
|
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 |
|
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'- TACACGTCCAAGCTGCTCGTGAAC -3'
(R):5'- AGAACTCTCTGCATCCTGCTCACTG -3'
Sequencing Primer
(F):5'- TGCAGATGGCTGACATCG -3'
(R):5'- cctcctcttcctcctcctc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation