Incidental Mutation 'IGL02162:Zbtb44'
ID |
282521 |
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 # |
IGL02162
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
30941940-30987181 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30964688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 33
(I33V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115222]
[ENSMUST00000167346]
[ENSMUST00000216649]
[ENSMUST00000217092]
|
AlphaFold |
Q8R0A2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000115222
AA Change: I33V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110877 Gene: ENSMUSG00000047412 AA Change: I33V
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 |
probably benign
Transcript: ENSMUST00000167346
AA Change: I33V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000133109 Gene: ENSMUSG00000047412 AA Change: I33V
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 |
probably benign
Transcript: ENSMUST00000213202
|
Predicted Effect |
unknown
Transcript: ENSMUST00000214585
AA Change: I29V
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216649
AA Change: I33V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217092
AA Change: I33V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang5 |
T |
C |
14: 44,199,966 (GRCm39) |
L10S |
probably damaging |
Het |
Cdk5rap1 |
T |
C |
2: 154,177,489 (GRCm39) |
T577A |
probably damaging |
Het |
Clca3a1 |
G |
T |
3: 144,460,564 (GRCm39) |
P297T |
probably damaging |
Het |
Col9a2 |
A |
T |
4: 120,911,531 (GRCm39) |
|
probably benign |
Het |
Ctss |
A |
G |
3: 95,454,132 (GRCm39) |
K227R |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,094,230 (GRCm39) |
R2902Q |
probably benign |
Het |
Dnah10 |
G |
T |
5: 124,881,810 (GRCm39) |
A2862S |
probably damaging |
Het |
Elp1 |
A |
G |
4: 56,796,502 (GRCm39) |
|
probably null |
Het |
Fbxw5 |
C |
A |
2: 25,393,283 (GRCm39) |
Q16K |
probably damaging |
Het |
Fcgbp |
G |
A |
7: 27,774,660 (GRCm39) |
C78Y |
probably damaging |
Het |
Gm20547 |
T |
A |
17: 35,076,003 (GRCm39) |
Y688F |
possibly damaging |
Het |
Gpaa1 |
T |
C |
15: 76,216,353 (GRCm39) |
|
probably benign |
Het |
Grik2 |
T |
C |
10: 49,298,671 (GRCm39) |
H63R |
possibly damaging |
Het |
Ikbke |
A |
G |
1: 131,201,452 (GRCm39) |
S132P |
possibly damaging |
Het |
Kirrel2 |
A |
G |
7: 30,153,089 (GRCm39) |
I340T |
probably benign |
Het |
Lipo5 |
A |
T |
19: 33,446,163 (GRCm39) |
|
probably benign |
Het |
Nfkbie |
T |
G |
17: 45,867,242 (GRCm39) |
|
probably null |
Het |
Ntng1 |
G |
T |
3: 109,842,311 (GRCm39) |
S154* |
probably null |
Het |
Or6c208 |
C |
T |
10: 129,223,973 (GRCm39) |
P157L |
probably benign |
Het |
Or8b12b |
A |
G |
9: 37,684,227 (GRCm39) |
I91V |
probably benign |
Het |
Pbld2 |
T |
C |
10: 62,907,179 (GRCm39) |
|
probably benign |
Het |
Phaf1 |
C |
T |
8: 105,966,605 (GRCm39) |
|
probably benign |
Het |
Plec |
C |
T |
15: 76,064,360 (GRCm39) |
M1971I |
probably benign |
Het |
Ppp1r3a |
A |
T |
6: 14,717,714 (GRCm39) |
F1067I |
probably damaging |
Het |
Qpctl |
A |
G |
7: 18,878,606 (GRCm39) |
F290L |
possibly damaging |
Het |
Sorcs3 |
A |
T |
19: 48,523,970 (GRCm39) |
Y288F |
probably damaging |
Het |
St8sia3 |
A |
G |
18: 64,398,651 (GRCm39) |
N37D |
probably benign |
Het |
Vmn2r109 |
T |
C |
17: 20,774,422 (GRCm39) |
D311G |
probably benign |
Het |
Zfp267 |
T |
C |
3: 36,218,210 (GRCm39) |
F78L |
probably benign |
Het |
Zfp541 |
C |
A |
7: 15,813,393 (GRCm39) |
T682K |
possibly damaging |
Het |
|
Other mutations in Zbtb44 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Zbtb44
|
APN |
9 |
30,965,606 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01464:Zbtb44
|
APN |
9 |
30,965,580 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |