Incidental Mutation 'R1189:Zbtb39'
| ID |
102429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb39
|
| Ensembl Gene |
ENSMUSG00000044617 |
| Gene Name |
zinc finger and BTB domain containing 39 |
| Synonyms |
7030401O21Rik |
| MMRRC Submission |
039261-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R1189 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127575407-127583218 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 127578175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Glutamic Acid
at position 250
(Q250E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054287]
[ENSMUST00000079692]
|
| AlphaFold |
Q6PDK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054287
AA Change: Q250E
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052717
Gene: ENSMUSG00000044617
AA Change: Q250E
| 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 |
0.0597 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.2%
- 10x: 92.5%
- 20x: 81.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930022D16Rik |
A |
G |
11: 109,308,934 (GRCm39) |
H100R |
unknown |
Het |
| Abcc2 |
T |
A |
19: 43,807,852 (GRCm39) |
V831D |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,750,787 (GRCm39) |
S533R |
probably benign |
Het |
| Aldh1a2 |
G |
T |
9: 71,171,105 (GRCm39) |
A198S |
possibly damaging |
Het |
| Cbarp |
C |
A |
10: 79,967,630 (GRCm39) |
R537L |
possibly damaging |
Het |
| Crybg1 |
T |
A |
10: 43,874,790 (GRCm39) |
S773C |
probably damaging |
Het |
| Cyp3a13 |
G |
T |
5: 137,909,892 (GRCm39) |
|
probably null |
Het |
| Gatad1 |
T |
A |
5: 3,693,701 (GRCm39) |
D156V |
probably damaging |
Het |
| Ift172 |
T |
A |
5: 31,443,174 (GRCm39) |
|
probably null |
Het |
| Lrrtm2 |
C |
T |
18: 35,346,545 (GRCm39) |
W252* |
probably null |
Het |
| Mitf |
T |
C |
6: 97,983,086 (GRCm39) |
C270R |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,232,122 (GRCm39) |
S1002C |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,539 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,543 (GRCm39) |
M184L |
probably benign |
Het |
| Pcdhb8 |
C |
T |
18: 37,489,620 (GRCm39) |
Q92* |
probably null |
Het |
| Plekhm1 |
A |
G |
11: 103,277,888 (GRCm39) |
S403P |
probably benign |
Het |
| Ppara |
A |
G |
15: 85,682,365 (GRCm39) |
I354V |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,480,644 (GRCm39) |
M761T |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,343,805 (GRCm39) |
N2015K |
probably damaging |
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 |
|
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 |
|
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'- TGACACTAATCATGGCTTGCCCC -3'
(R):5'- GCTGTCGTCGCTCAACTCAATCAC -3'
Sequencing Primer
(F):5'- TCTGTTCCTAGTGTGGCAAC -3'
(R):5'- GCGGTCCCGATGTCTTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation