Incidental Mutation 'R2346:Zbtb39'
| ID |
245954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb39
|
| Ensembl Gene |
ENSMUSG00000044617 |
| Gene Name |
zinc finger and BTB domain containing 39 |
| Synonyms |
7030401O21Rik |
| MMRRC Submission |
040329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R2346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127575407-127583218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127577450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 8
(Q8L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054287]
|
| AlphaFold |
Q6PDK0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054287
AA Change: Q8L
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052717
Gene: ENSMUSG00000044617
AA Change: Q8L
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
30 |
126 |
9.15e-24 |
SMART |
|
low complexity region
|
197 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
229 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
372 |
394 |
6.4e0 |
SMART |
|
ZnF_C2H2
|
400 |
420 |
3.21e1 |
SMART |
|
ZnF_C2H2
|
451 |
474 |
9.31e1 |
SMART |
|
ZnF_C2H2
|
480 |
502 |
6.92e0 |
SMART |
|
ZnF_C2H2
|
508 |
530 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
538 |
560 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
605 |
627 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
633 |
655 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
661 |
683 |
2.49e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.0637 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (21/21) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC051665 |
T |
C |
13: 60,931,774 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
C |
T |
8: 93,751,947 (GRCm39) |
V396M |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,378,852 (GRCm39) |
L137P |
probably damaging |
Het |
| Elf2 |
A |
G |
3: 51,164,865 (GRCm39) |
S380P |
probably benign |
Het |
| Fbxw15 |
T |
C |
9: 109,394,500 (GRCm39) |
Y105C |
probably damaging |
Het |
| Gm12588 |
T |
C |
11: 121,796,994 (GRCm39) |
Y285C |
probably benign |
Het |
| Gm21276 |
T |
A |
7: 38,467,575 (GRCm39) |
|
noncoding transcript |
Het |
| Kat2b |
A |
G |
17: 53,917,932 (GRCm39) |
N97S |
probably benign |
Het |
| Mus81 |
A |
G |
19: 5,534,991 (GRCm39) |
|
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or8a1b |
T |
C |
9: 37,622,661 (GRCm39) |
R305G |
possibly damaging |
Het |
| Pkhd1l1 |
C |
A |
15: 44,423,902 (GRCm39) |
A3148E |
possibly damaging |
Het |
| Prkar2b |
T |
C |
12: 32,022,149 (GRCm39) |
N212S |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,418,236 (GRCm39) |
T959S |
probably damaging |
Het |
| Samd4 |
G |
A |
14: 47,122,299 (GRCm39) |
G8R |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skiv2l-ps1 |
A |
G |
17: 34,989,076 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r20 |
A |
G |
6: 57,408,931 (GRCm39) |
M86V |
possibly damaging |
Het |
| Vwa1 |
A |
G |
4: 155,857,526 (GRCm39) |
Y91H |
probably benign |
Het |
| Zan |
A |
G |
5: 137,420,129 (GRCm39) |
S2843P |
unknown |
Het |
|
| Other mutations in Zbtb39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01935:Zbtb39
|
APN |
10 |
127,578,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0636:Zbtb39
|
UTSW |
10 |
127,578,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0959:Zbtb39
|
UTSW |
10 |
127,578,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0959:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0962:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0964:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1188:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1189:Zbtb39
|
UTSW |
10 |
127,578,175 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1239:Zbtb39
|
UTSW |
10 |
127,578,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1341:Zbtb39
|
UTSW |
10 |
127,579,369 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1838:Zbtb39
|
UTSW |
10 |
127,578,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Zbtb39
|
UTSW |
10 |
127,578,703 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2167:Zbtb39
|
UTSW |
10 |
127,578,844 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4041:Zbtb39
|
UTSW |
10 |
127,579,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4171:Zbtb39
|
UTSW |
10 |
127,578,236 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4409:Zbtb39
|
UTSW |
10 |
127,578,696 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4410:Zbtb39
|
UTSW |
10 |
127,578,696 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4539:Zbtb39
|
UTSW |
10 |
127,578,061 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5761:Zbtb39
|
UTSW |
10 |
127,578,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5766:Zbtb39
|
UTSW |
10 |
127,578,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5812:Zbtb39
|
UTSW |
10 |
127,577,429 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R6710:Zbtb39
|
UTSW |
10 |
127,579,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Zbtb39
|
UTSW |
10 |
127,577,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7941:Zbtb39
|
UTSW |
10 |
127,579,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8711:Zbtb39
|
UTSW |
10 |
127,578,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Zbtb39
|
UTSW |
10 |
127,577,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zbtb39
|
UTSW |
10 |
127,578,296 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGGGTGAAGGTCATTCC -3'
(R):5'- ATCTAGCCCAGTGTTTAAGAAGAG -3'
Sequencing Primer
(F):5'- GGTGAAGGTCATTCCCCACTC -3'
(R):5'- AGCCCAGTGTTTAAGAAGAGGTTCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation