Incidental Mutation 'R4041:Zbtb39'
| ID |
313885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb39
|
| Ensembl Gene |
ENSMUSG00000044617 |
| Gene Name |
zinc finger and BTB domain containing 39 |
| Synonyms |
7030401O21Rik |
| MMRRC Submission |
040966-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R4041 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127575407-127583218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127579423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 666
(C666R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054287]
[ENSMUST00000079692]
|
| AlphaFold |
Q6PDK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054287
AA Change: C666R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052717
Gene: ENSMUSG00000044617
AA Change: C666R
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079692
|
| SMART Domains |
Protein: ENSMUSP00000100882
Gene: ENSMUSG00000058396
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
66 |
316 |
1.2e-40 |
PFAM |
|
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9506 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf5 |
T |
C |
7: 44,462,921 (GRCm39) |
T68A |
possibly damaging |
Het |
| Cage1 |
A |
G |
13: 38,203,153 (GRCm39) |
L637P |
possibly damaging |
Het |
| Cfl1 |
T |
C |
19: 5,542,556 (GRCm39) |
I12T |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,286,902 (GRCm39) |
E653G |
probably damaging |
Het |
| Cntnap5a |
C |
A |
1: 116,112,129 (GRCm39) |
P473Q |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,120,655 (GRCm39) |
S91P |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,813,404 (GRCm39) |
Q2313R |
probably benign |
Het |
| Gpc5 |
A |
T |
14: 115,370,628 (GRCm39) |
Q151L |
probably damaging |
Het |
| Hexim1 |
A |
G |
11: 103,007,932 (GRCm39) |
E62G |
probably benign |
Het |
| Ifna13 |
A |
G |
4: 88,562,228 (GRCm39) |
F132S |
probably benign |
Het |
| Irgm2 |
A |
G |
11: 58,110,956 (GRCm39) |
M228V |
probably benign |
Het |
| Klhl41 |
A |
G |
2: 69,501,054 (GRCm39) |
M172V |
probably benign |
Het |
| Klk1 |
A |
T |
7: 43,878,986 (GRCm39) |
N260I |
probably damaging |
Het |
| Krit1 |
G |
C |
5: 3,859,642 (GRCm39) |
R110P |
probably damaging |
Het |
| Krt7 |
T |
A |
15: 101,321,161 (GRCm39) |
|
probably null |
Het |
| Lrrn4cl |
T |
A |
19: 8,829,468 (GRCm39) |
Y149N |
probably damaging |
Het |
| Ltbp3 |
G |
T |
19: 5,801,899 (GRCm39) |
C739F |
possibly damaging |
Het |
| Mbnl2 |
C |
T |
14: 120,626,486 (GRCm39) |
H239Y |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,942,357 (GRCm39) |
R4942* |
probably null |
Het |
| Or2bd2 |
T |
C |
7: 6,443,688 (GRCm39) |
L263P |
probably damaging |
Het |
| R3hcc1 |
A |
G |
14: 69,944,111 (GRCm39) |
S45P |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,785,356 (GRCm39) |
H1778Q |
possibly damaging |
Het |
| Scyl2 |
T |
A |
10: 89,485,914 (GRCm39) |
K558N |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,991,586 (GRCm39) |
V677M |
unknown |
Het |
| Slc39a5 |
T |
C |
10: 128,232,337 (GRCm39) |
M488V |
possibly damaging |
Het |
| Styk1 |
A |
T |
6: 131,289,880 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
T |
C |
1: 165,927,680 (GRCm39) |
D644G |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,908,565 (GRCm39) |
V1047A |
probably benign |
Het |
| Wnt3a |
G |
T |
11: 59,140,470 (GRCm39) |
H349N |
probably damaging |
Het |
| Zfp420 |
T |
C |
7: 29,575,427 (GRCm39) |
M549T |
probably benign |
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 |
|
R2346:Zbtb39
|
UTSW |
10 |
127,577,450 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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'- GCCTGGGAATAGTAAGTACAGTTG -3'
(R):5'- CAAAGTCACTATCCCGGCTG -3'
Sequencing Primer
(F):5'- TACAGTTGTAAGGTCTGTGGCAAAAG -3'
(R):5'- TATCCCGGCTGCCACCTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation