Incidental Mutation 'IGL00501:Zbtb44'
ID |
4919 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zbtb44
|
Ensembl Gene |
ENSMUSG00000047412 |
Gene Name |
zinc finger and BTB domain containing 44 |
Synonyms |
Btbd15, 6030404E16Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.482)
|
Stock # |
IGL00501
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
30941940-30987181 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30965606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 339
(I339V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115222]
[ENSMUST00000167346]
[ENSMUST00000216649]
[ENSMUST00000217092]
|
AlphaFold |
Q8R0A2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115222
AA Change: I339V
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110877 Gene: ENSMUSG00000047412 AA Change: I339V
Domain | Start | End | E-Value | Type |
BTB
|
31 |
128 |
3.58e-26 |
SMART |
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
ZnF_C2H2
|
399 |
421 |
2.43e-4 |
SMART |
ZnF_C2H2
|
427 |
449 |
3.11e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167346
AA Change: I339V
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000133109 Gene: ENSMUSG00000047412 AA Change: I339V
Domain | Start | End | E-Value | Type |
BTB
|
31 |
128 |
3.58e-26 |
SMART |
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
ZnF_C2H2
|
381 |
403 |
2.43e-4 |
SMART |
ZnF_C2H2
|
409 |
431 |
3.11e-2 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000213202
AA Change: I20V
|
Predicted Effect |
unknown
Transcript: ENSMUST00000214585
AA Change: I335V
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216649
AA Change: I339V
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217092
AA Change: I339V
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
T |
C |
9: 53,493,895 (GRCm39) |
I409V |
probably damaging |
Het |
Adck1 |
A |
G |
12: 88,335,192 (GRCm39) |
N26S |
probably benign |
Het |
Adgrf5 |
G |
A |
17: 43,760,806 (GRCm39) |
A834T |
possibly damaging |
Het |
Agpat5 |
T |
C |
8: 18,926,148 (GRCm39) |
|
probably null |
Het |
Ano8 |
A |
C |
8: 71,931,793 (GRCm39) |
|
probably null |
Het |
Baz2a |
T |
A |
10: 127,950,494 (GRCm39) |
M476K |
probably benign |
Het |
Cgas |
G |
A |
9: 78,342,869 (GRCm39) |
A311V |
probably damaging |
Het |
Col16a1 |
A |
G |
4: 129,988,345 (GRCm39) |
|
probably null |
Het |
Cyp3a13 |
A |
T |
5: 137,910,195 (GRCm39) |
I113N |
probably benign |
Het |
Dstn |
A |
G |
2: 143,784,094 (GRCm39) |
T146A |
probably benign |
Het |
Eif2ak1 |
A |
T |
5: 143,826,288 (GRCm39) |
M434L |
probably damaging |
Het |
Gba2 |
G |
A |
4: 43,568,477 (GRCm39) |
A663V |
probably damaging |
Het |
Gja10 |
T |
C |
4: 32,601,230 (GRCm39) |
T385A |
possibly damaging |
Het |
Gm42878 |
A |
C |
5: 121,671,406 (GRCm39) |
I209R |
probably damaging |
Het |
Grk1 |
T |
A |
8: 13,457,835 (GRCm39) |
V245E |
probably damaging |
Het |
H2az1 |
T |
C |
3: 137,571,357 (GRCm39) |
V53A |
probably damaging |
Het |
Hycc1 |
A |
G |
5: 24,190,843 (GRCm39) |
|
probably benign |
Het |
Kctd16 |
G |
A |
18: 40,390,440 (GRCm39) |
|
probably benign |
Het |
Klhdc8b |
C |
T |
9: 108,326,105 (GRCm39) |
R263H |
probably benign |
Het |
Lcn8 |
T |
C |
2: 25,545,119 (GRCm39) |
|
probably benign |
Het |
Ldlr |
T |
C |
9: 21,646,657 (GRCm39) |
|
probably null |
Het |
Lrrc40 |
T |
C |
3: 157,766,919 (GRCm39) |
F458S |
probably damaging |
Het |
Lypla1 |
T |
A |
1: 4,898,810 (GRCm39) |
H35Q |
probably damaging |
Het |
Mink1 |
C |
T |
11: 70,494,638 (GRCm39) |
T273I |
probably damaging |
Het |
Neb |
A |
G |
2: 52,185,356 (GRCm39) |
F959L |
probably benign |
Het |
Nedd4l |
A |
T |
18: 65,341,163 (GRCm39) |
D704V |
probably damaging |
Het |
Peak1 |
C |
T |
9: 56,134,610 (GRCm39) |
E1274K |
probably damaging |
Het |
Prkcz |
G |
T |
4: 155,378,858 (GRCm39) |
|
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,359,558 (GRCm39) |
N40K |
probably damaging |
Het |
Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,110,806 (GRCm39) |
T126A |
probably damaging |
Het |
Tanc2 |
T |
C |
11: 105,814,046 (GRCm39) |
V1830A |
probably benign |
Het |
Tmem104 |
T |
C |
11: 115,134,763 (GRCm39) |
I433T |
probably damaging |
Het |
Trim10 |
G |
A |
17: 37,187,939 (GRCm39) |
R385K |
probably benign |
Het |
|
Other mutations in Zbtb44 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01464:Zbtb44
|
APN |
9 |
30,965,580 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02162:Zbtb44
|
APN |
9 |
30,964,688 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03295:Zbtb44
|
APN |
9 |
30,964,753 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03412:Zbtb44
|
APN |
9 |
30,964,763 (GRCm39) |
missense |
probably benign |
0.08 |
R0137:Zbtb44
|
UTSW |
9 |
30,978,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R2182:Zbtb44
|
UTSW |
9 |
30,977,972 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2511:Zbtb44
|
UTSW |
9 |
30,965,539 (GRCm39) |
missense |
probably damaging |
0.99 |
R4501:Zbtb44
|
UTSW |
9 |
30,965,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R4557:Zbtb44
|
UTSW |
9 |
30,975,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R4841:Zbtb44
|
UTSW |
9 |
30,964,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R5391:Zbtb44
|
UTSW |
9 |
30,964,601 (GRCm39) |
splice site |
probably null |
|
R5639:Zbtb44
|
UTSW |
9 |
30,965,348 (GRCm39) |
missense |
probably damaging |
0.98 |
R6001:Zbtb44
|
UTSW |
9 |
30,965,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R6170:Zbtb44
|
UTSW |
9 |
30,964,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R6415:Zbtb44
|
UTSW |
9 |
30,975,510 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7658:Zbtb44
|
UTSW |
9 |
30,965,375 (GRCm39) |
missense |
probably benign |
0.00 |
R7913:Zbtb44
|
UTSW |
9 |
30,965,504 (GRCm39) |
nonsense |
probably null |
|
R9155:Zbtb44
|
UTSW |
9 |
30,965,309 (GRCm39) |
missense |
probably benign |
|
R9226:Zbtb44
|
UTSW |
9 |
30,975,524 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Posted On |
2012-04-20 |