Incidental Mutation 'R6001:Zbtb44'
| ID |
480840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb44
|
| Ensembl Gene |
ENSMUSG00000047412 |
| Gene Name |
zinc finger and BTB domain containing 44 |
| Synonyms |
Btbd15, 6030404E16Rik |
| MMRRC Submission |
044180-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.482)
|
| Stock # |
R6001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
30941940-30987181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30965090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 167
(C167R)
|
| 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: C167R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110877
Gene: ENSMUSG00000047412
AA Change: C167R
| 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: C167R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133109
Gene: ENSMUSG00000047412
AA Change: C167R
| 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: C163R
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216649
AA Change: C167R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217092
AA Change: C167R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
T |
4: 53,075,555 (GRCm39) |
R999S |
possibly damaging |
Het |
| Ankrd31 |
T |
A |
13: 96,962,717 (GRCm39) |
Y503N |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,781,941 (GRCm39) |
E324G |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Atl1 |
A |
T |
12: 69,979,057 (GRCm39) |
T162S |
possibly damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,770,728 (GRCm39) |
Y394H |
probably damaging |
Het |
| Dennd2d |
A |
G |
3: 106,399,776 (GRCm39) |
H233R |
probably benign |
Het |
| Dhx16 |
G |
T |
17: 36,194,766 (GRCm39) |
M462I |
probably damaging |
Het |
| Hif3a |
T |
C |
7: 16,784,486 (GRCm39) |
Y253C |
probably damaging |
Het |
| Hsf4 |
G |
A |
8: 105,999,541 (GRCm39) |
G277R |
possibly damaging |
Het |
| Impg1 |
T |
C |
9: 80,223,454 (GRCm39) |
D754G |
probably benign |
Het |
| Keap1 |
T |
C |
9: 21,142,135 (GRCm39) |
S580G |
possibly damaging |
Het |
| Lrp6 |
T |
C |
6: 134,441,481 (GRCm39) |
K1162E |
probably benign |
Het |
| Lrrc31 |
C |
T |
3: 30,745,318 (GRCm39) |
V110I |
possibly damaging |
Het |
| Muc5b |
G |
T |
7: 141,426,118 (GRCm39) |
K4738N |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,542,794 (GRCm39) |
|
probably null |
Het |
| Odad2 |
T |
C |
18: 7,286,838 (GRCm39) |
D131G |
probably benign |
Het |
| Or10q1b |
A |
G |
19: 13,682,424 (GRCm39) |
T78A |
probably damaging |
Het |
| Or52z14 |
T |
A |
7: 103,253,179 (GRCm39) |
M106K |
probably damaging |
Het |
| Or7g19 |
A |
T |
9: 18,856,340 (GRCm39) |
Y132F |
probably damaging |
Het |
| Parp4 |
A |
T |
14: 56,878,740 (GRCm39) |
H1225L |
probably benign |
Het |
| Pcgf2 |
T |
C |
11: 97,583,606 (GRCm39) |
Y52C |
possibly damaging |
Het |
| Pkn3 |
T |
C |
2: 29,978,596 (GRCm39) |
|
probably null |
Het |
| Psen2 |
C |
A |
1: 180,073,234 (GRCm39) |
R29L |
possibly damaging |
Het |
| Rfx6 |
A |
G |
10: 51,594,307 (GRCm39) |
|
probably null |
Het |
| Rps13 |
T |
C |
7: 115,930,808 (GRCm39) |
T145A |
probably benign |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
A |
ACGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
T |
9: 21,544,205 (GRCm39) |
|
probably benign |
Het |
| Stat4 |
A |
T |
1: 52,136,026 (GRCm39) |
E445V |
probably damaging |
Het |
| Taf13 |
T |
A |
3: 108,488,387 (GRCm39) |
I90N |
probably damaging |
Het |
| Tas2r124 |
T |
A |
6: 132,732,416 (GRCm39) |
Y242N |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
| Wasl |
T |
C |
6: 24,619,573 (GRCm39) |
T316A |
unknown |
Het |
| Zc3h7b |
T |
C |
15: 81,676,236 (GRCm39) |
L714P |
possibly damaging |
Het |
| Zfp35 |
T |
A |
18: 24,135,816 (GRCm39) |
H53Q |
probably benign |
Het |
| Zfp804b |
A |
G |
5: 6,819,043 (GRCm39) |
V1340A |
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 |
|
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 |
|
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'- TAGCGGCAGCCAGCTATATG -3'
(R):5'- GAATCCTTCGATCTATTCCAAAAGGG -3'
Sequencing Primer
(F):5'- CGGCAGCCAGCTATATGCAAATG -3'
(R):5'- GCTAAAGAAGAGTCAACTGGCTGAC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation