Incidental Mutation 'R4501:Zbtb44'
| ID |
331816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb44
|
| Ensembl Gene |
ENSMUSG00000047412 |
| Gene Name |
zinc finger and BTB domain containing 44 |
| Synonyms |
Btbd15, 6030404E16Rik |
| MMRRC Submission |
041753-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.596)
|
| Stock # |
R4501 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
30941940-30987181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30965462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 291
(V291I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115222]
[ENSMUST00000167346]
[ENSMUST00000216649]
[ENSMUST00000217092]
|
| AlphaFold |
Q8R0A2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115222
AA Change: V291I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110877
Gene: ENSMUSG00000047412
AA Change: V291I
| 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 damaging
Transcript: ENSMUST00000167346
AA Change: V291I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133109
Gene: ENSMUSG00000047412
AA Change: V291I
| 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: V287I
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216649
AA Change: V291I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217092
AA Change: V291I
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.2383 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
G |
14: 54,924,044 (GRCm39) |
V65A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,428,753 (GRCm39) |
L956S |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,052,555 (GRCm39) |
T388I |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,919 (GRCm39) |
V389A |
probably benign |
Het |
| Cdh2 |
A |
G |
18: 16,762,642 (GRCm39) |
V434A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,368,485 (GRCm39) |
M1717L |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,100,457 (GRCm39) |
L151Q |
probably benign |
Het |
| Hc |
A |
T |
2: 34,887,488 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,509,417 (GRCm39) |
S3644T |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,480,718 (GRCm39) |
I761T |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,560,965 (GRCm39) |
V90A |
probably benign |
Het |
| Ncf2 |
C |
G |
1: 152,710,784 (GRCm39) |
Q432E |
probably benign |
Het |
| Nxn |
T |
C |
11: 76,165,438 (GRCm39) |
E172G |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
| Phldb3 |
A |
G |
7: 24,311,986 (GRCm39) |
E100G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,021,356 (GRCm39) |
|
probably benign |
Het |
| Pldi |
G |
T |
10: 60,764,188 (GRCm39) |
|
noncoding transcript |
Het |
| Plk5 |
T |
C |
10: 80,195,305 (GRCm39) |
C208R |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,224,278 (GRCm39) |
A105E |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,973,999 (GRCm39) |
T252A |
probably benign |
Het |
| Rpl13a |
T |
C |
7: 44,775,564 (GRCm39) |
H95R |
probably benign |
Het |
| Sh3d21 |
GAATCTCCTGGGAAAATC |
GAATC |
4: 126,056,652 (GRCm39) |
|
probably null |
Het |
| Slc30a4 |
A |
G |
2: 122,527,136 (GRCm39) |
I370T |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,326,168 (GRCm39) |
F565L |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,009,243 (GRCm39) |
K1050E |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,613,324 (GRCm39) |
L494Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,624,991 (GRCm39) |
I13450L |
possibly damaging |
Het |
| Usp34 |
C |
A |
11: 23,351,529 (GRCm39) |
P1439Q |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn1r80 |
A |
G |
7: 11,927,318 (GRCm39) |
N143D |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTTTTGGAATAGATCGAAGG -3'
(R):5'- CGAGTGAGCGGGATTGACTG -3'
Sequencing Primer
(F):5'- TTTGGAATAGATCGAAGGATTCAGCC -3'
(R):5'- GGTTGGACCTCTCTGAAACCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation