Incidental Mutation 'IGL03295:Zbtb44'
| ID |
416044 |
| 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 essential
(E-score: 0.596)
|
| Stock # |
IGL03295
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
30941940-30987181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30964753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 54
(D54E)
|
| 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: D54E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110877
Gene: ENSMUSG00000047412
AA Change: D54E
| 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: D54E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133109
Gene: ENSMUSG00000047412
AA Change: D54E
| 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: D50E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216649
AA Change: D54E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217092
AA Change: D54E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,390,915 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
T |
C |
16: 85,674,833 (GRCm39) |
T444A |
probably damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,551,386 (GRCm39) |
E522G |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,044,927 (GRCm39) |
T437A |
probably damaging |
Het |
| Bsx |
A |
G |
9: 40,785,743 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,977,769 (GRCm39) |
N729S |
probably benign |
Het |
| Cdk1 |
G |
T |
10: 69,178,373 (GRCm39) |
H162Q |
possibly damaging |
Het |
| Chrac1 |
A |
G |
15: 72,965,445 (GRCm39) |
|
probably benign |
Het |
| Cip2a |
T |
C |
16: 48,814,704 (GRCm39) |
S22P |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
| Edn2 |
T |
A |
4: 120,019,178 (GRCm39) |
C56S |
probably damaging |
Het |
| Gm4952 |
T |
C |
19: 12,595,691 (GRCm39) |
V27A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,303,985 (GRCm39) |
S763T |
possibly damaging |
Het |
| Hspd1 |
G |
A |
1: 55,119,334 (GRCm39) |
T381I |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,724,864 (GRCm39) |
I249F |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,477,892 (GRCm39) |
D148G |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 40,568,999 (GRCm39) |
|
probably null |
Het |
| Mier3 |
C |
A |
13: 111,840,215 (GRCm39) |
T51K |
probably benign |
Het |
| Ppp1r36 |
C |
T |
12: 76,485,192 (GRCm39) |
P305L |
probably damaging |
Het |
| Pramel27 |
G |
A |
4: 143,579,759 (GRCm39) |
C448Y |
probably damaging |
Het |
| Prdm1 |
T |
C |
10: 44,315,866 (GRCm39) |
I790V |
probably damaging |
Het |
| Sephs2 |
T |
C |
7: 126,871,941 (GRCm39) |
E384G |
possibly damaging |
Het |
| Sipa1l1 |
T |
A |
12: 82,479,714 (GRCm39) |
W1466R |
probably damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,638 (GRCm39) |
L48P |
possibly damaging |
Het |
| Stt3a |
A |
G |
9: 36,674,627 (GRCm39) |
|
probably null |
Het |
| Synj1 |
T |
A |
16: 90,735,318 (GRCm39) |
N1545I |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,165,041 (GRCm39) |
S607T |
possibly damaging |
Het |
| Wdr27 |
T |
C |
17: 15,154,837 (GRCm39) |
K27E |
possibly damaging |
Het |
| Xcl1 |
A |
T |
1: 164,763,004 (GRCm39) |
V19E |
unknown |
Het |
| Xlr3c |
A |
T |
X: 72,301,240 (GRCm39) |
|
probably null |
Het |
| Zscan21 |
A |
G |
5: 138,123,540 (GRCm39) |
D73G |
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 |
|
IGL02162:Zbtb44
|
APN |
9 |
30,964,688 (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 |
2016-08-02 |
Incidental Mutation