Incidental Mutation 'R1188:Zbtb39'
ID |
102377 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb39
|
Ensembl Gene |
ENSMUSG00000044617 |
Gene Name |
zinc finger and BTB domain containing 39 |
Synonyms |
7030401O21Rik |
MMRRC Submission |
039260-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
R1188 (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: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130230L23Rik |
T |
C |
5: 66,147,741 (GRCm39) |
Y14C |
unknown |
Het |
Afap1l2 |
T |
C |
19: 56,913,501 (GRCm39) |
K312E |
probably damaging |
Het |
Amigo2 |
T |
A |
15: 97,143,594 (GRCm39) |
E276V |
probably benign |
Het |
Atf2 |
A |
G |
2: 73,675,881 (GRCm39) |
F114L |
probably damaging |
Het |
Avpr1a |
G |
T |
10: 122,284,824 (GRCm39) |
G39C |
possibly damaging |
Het |
Ccpg1 |
A |
G |
9: 72,919,788 (GRCm39) |
R468G |
possibly damaging |
Het |
Celf6 |
G |
T |
9: 59,497,961 (GRCm39) |
R130L |
probably benign |
Het |
Dsp |
T |
C |
13: 38,378,939 (GRCm39) |
S1296P |
probably damaging |
Het |
Fnip2 |
C |
T |
3: 79,369,469 (GRCm39) |
R1072H |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,805,361 (GRCm39) |
C560F |
possibly damaging |
Het |
Get3 |
A |
G |
8: 85,746,422 (GRCm39) |
I142T |
probably damaging |
Het |
Gpr20 |
A |
C |
15: 73,567,617 (GRCm39) |
H257Q |
probably damaging |
Het |
Gys2 |
T |
A |
6: 142,400,909 (GRCm39) |
H297L |
probably damaging |
Het |
Habp2 |
G |
A |
19: 56,300,154 (GRCm39) |
S201N |
probably benign |
Het |
Hars2 |
T |
C |
18: 36,921,022 (GRCm39) |
I198T |
probably damaging |
Het |
Jag2 |
G |
A |
12: 112,883,741 (GRCm39) |
Q247* |
probably null |
Het |
Jam2 |
A |
G |
16: 84,603,755 (GRCm39) |
T81A |
probably damaging |
Het |
Mrps26 |
G |
A |
2: 130,406,301 (GRCm39) |
E145K |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,105,486 (GRCm39) |
F1545L |
probably benign |
Het |
Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
Pikfyve |
T |
A |
1: 65,286,118 (GRCm39) |
V1074D |
possibly damaging |
Het |
Prkag1 |
T |
A |
15: 98,712,479 (GRCm39) |
I118F |
probably damaging |
Het |
R3hdm2 |
G |
A |
10: 127,288,624 (GRCm39) |
V91I |
probably benign |
Het |
Rnf168 |
T |
C |
16: 32,117,477 (GRCm39) |
V346A |
probably benign |
Het |
Slc17a7 |
T |
C |
7: 44,819,311 (GRCm39) |
V129A |
possibly damaging |
Het |
Snai3 |
T |
A |
8: 123,181,701 (GRCm39) |
Q252L |
probably damaging |
Het |
Snx17 |
T |
C |
5: 31,353,166 (GRCm39) |
V133A |
probably benign |
Het |
Stt3a |
A |
G |
9: 36,662,636 (GRCm39) |
S59P |
probably damaging |
Het |
Sun1 |
C |
T |
5: 139,224,611 (GRCm39) |
R546C |
probably damaging |
Het |
Thsd4 |
T |
A |
9: 60,301,689 (GRCm39) |
Q202L |
probably benign |
Het |
Tnrc6b |
A |
G |
15: 80,763,430 (GRCm39) |
T311A |
probably benign |
Het |
Tshr |
T |
A |
12: 91,468,942 (GRCm39) |
D18E |
probably benign |
Het |
Ttn |
A |
T |
2: 76,619,773 (GRCm39) |
L15965Q |
probably damaging |
Het |
Wnk1 |
C |
A |
6: 119,925,670 (GRCm39) |
E1265* |
probably null |
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 |
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 |
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 |