Incidental Mutation 'R0443:Zbtb49'
| ID |
39269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb49
|
| Ensembl Gene |
ENSMUSG00000029127 |
| Gene Name |
zinc finger and BTB domain containing 49 |
| Synonyms |
Zfp509, 4930518A03Rik |
| MMRRC Submission |
038644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R0443 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
38347076-38377798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38358174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 693
(E693G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094833]
[ENSMUST00000123106]
[ENSMUST00000126267]
[ENSMUST00000136475]
[ENSMUST00000138820]
[ENSMUST00000143436]
|
| AlphaFold |
Q8BXX2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094833
AA Change: E693G
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000092429
Gene: ENSMUSG00000029127
AA Change: E693G
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
25 |
121 |
2.97e-23 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
6.99e-5 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
526 |
548 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
554 |
576 |
3.39e-3 |
SMART |
|
low complexity region
|
597 |
614 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123106
|
| SMART Domains |
Protein: ENSMUSP00000144200
Gene: ENSMUSG00000029127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
12 |
51 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126267
|
| SMART Domains |
Protein: ENSMUSP00000122109
Gene: ENSMUSG00000029127
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
25 |
121 |
2.97e-23 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136475
|
| SMART Domains |
Protein: ENSMUSP00000117174
Gene: ENSMUSG00000029127
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
25 |
121 |
2.97e-23 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138820
|
| SMART Domains |
Protein: ENSMUSP00000117913
Gene: ENSMUSG00000029127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
13 |
63 |
4.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143436
|
| SMART Domains |
Protein: ENSMUSP00000115513
Gene: ENSMUSG00000029127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
15 |
75 |
1.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146859
|
| SMART Domains |
Protein: ENSMUSP00000114955
Gene: ENSMUSG00000029127
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
11 |
33 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
39 |
61 |
5.14e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0614 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3b |
G |
T |
5: 26,053,409 (GRCm39) |
R246L |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,119,653 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
A |
G |
18: 36,777,652 (GRCm39) |
S1612G |
possibly damaging |
Het |
| Caskin1 |
C |
T |
17: 24,724,374 (GRCm39) |
A1054V |
probably damaging |
Het |
| Casz1 |
T |
C |
4: 149,033,368 (GRCm39) |
V1380A |
possibly damaging |
Het |
| Ccn2 |
T |
C |
10: 24,471,701 (GRCm39) |
|
probably benign |
Het |
| Cnot6l |
T |
G |
5: 96,239,604 (GRCm39) |
|
probably benign |
Het |
| Crat |
T |
C |
2: 30,293,640 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
C |
T |
5: 122,025,500 (GRCm39) |
R56H |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
G |
T |
9: 7,167,244 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 77,999,118 (GRCm39) |
|
probably benign |
Het |
| Ergic3 |
G |
A |
2: 155,858,707 (GRCm39) |
V278M |
probably benign |
Het |
| Fam20b |
A |
T |
1: 156,509,023 (GRCm39) |
D396E |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,594,633 (GRCm39) |
|
probably benign |
Het |
| Golga1 |
A |
T |
2: 38,908,453 (GRCm39) |
S749T |
probably damaging |
Het |
| Gsdma2 |
C |
T |
11: 98,548,514 (GRCm39) |
T255I |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 115,128,996 (GRCm39) |
D554V |
probably benign |
Het |
| Itgam |
C |
T |
7: 127,680,806 (GRCm39) |
A245V |
probably damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,243 (GRCm39) |
T161A |
probably benign |
Het |
| Map3k19 |
A |
T |
1: 127,750,152 (GRCm39) |
N1066K |
probably benign |
Het |
| Ms4a6b |
A |
G |
19: 11,499,044 (GRCm39) |
I53V |
possibly damaging |
Het |
| Mtf1 |
C |
T |
4: 124,718,075 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,051,489 (GRCm39) |
|
probably null |
Het |
| Nop9 |
A |
G |
14: 55,991,205 (GRCm39) |
S621G |
probably benign |
Het |
| Or1e19 |
A |
G |
11: 73,316,581 (GRCm39) |
V76A |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,023 (GRCm39) |
V149A |
probably benign |
Het |
| Or9a2 |
T |
A |
6: 41,748,829 (GRCm39) |
I135F |
possibly damaging |
Het |
| Pacs1 |
A |
T |
19: 5,322,611 (GRCm39) |
Y102* |
probably null |
Het |
| Pcdhb10 |
A |
C |
18: 37,545,485 (GRCm39) |
D187A |
probably damaging |
Het |
| Pih1d2 |
A |
G |
9: 50,532,403 (GRCm39) |
R170G |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,235,865 (GRCm39) |
H179R |
probably damaging |
Het |
| Pknox1 |
A |
G |
17: 31,811,193 (GRCm39) |
S156G |
probably damaging |
Het |
| Prkcz |
T |
A |
4: 155,353,597 (GRCm39) |
D250V |
probably damaging |
Het |
| Psg16 |
T |
A |
7: 16,829,088 (GRCm39) |
I224N |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,641,661 (GRCm39) |
|
probably benign |
Het |
| Slc25a40 |
T |
A |
5: 8,497,348 (GRCm39) |
S229T |
probably benign |
Het |
| Slc43a2 |
T |
C |
11: 75,435,493 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tas2r129 |
G |
T |
6: 132,928,159 (GRCm39) |
C32F |
probably benign |
Het |
| Tfap2d |
C |
T |
1: 19,174,591 (GRCm39) |
R15C |
possibly damaging |
Het |
| Tonsl |
T |
C |
15: 76,523,884 (GRCm39) |
S39G |
probably benign |
Het |
| Trpc2 |
A |
G |
7: 101,742,727 (GRCm39) |
|
probably benign |
Het |
| Ttc17 |
A |
G |
2: 94,208,439 (GRCm39) |
F144S |
probably benign |
Het |
| Twnk |
G |
T |
19: 44,996,578 (GRCm39) |
G337V |
possibly damaging |
Het |
| Uvssa |
A |
G |
5: 33,546,168 (GRCm39) |
R180G |
possibly damaging |
Het |
| Vmn1r197 |
T |
A |
13: 22,512,241 (GRCm39) |
I54K |
possibly damaging |
Het |
| Vmn1r71 |
G |
A |
7: 10,482,238 (GRCm39) |
T84I |
probably benign |
Het |
|
| Other mutations in Zbtb49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01355:Zbtb49
|
APN |
5 |
38,367,960 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01736:Zbtb49
|
APN |
5 |
38,358,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4585001:Zbtb49
|
UTSW |
5 |
38,373,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0526:Zbtb49
|
UTSW |
5 |
38,371,263 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0646:Zbtb49
|
UTSW |
5 |
38,358,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1200:Zbtb49
|
UTSW |
5 |
38,370,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Zbtb49
|
UTSW |
5 |
38,371,038 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1964:Zbtb49
|
UTSW |
5 |
38,361,105 (GRCm39) |
nonsense |
probably null |
|
|
R2155:Zbtb49
|
UTSW |
5 |
38,371,464 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2483:Zbtb49
|
UTSW |
5 |
38,360,701 (GRCm39) |
intron |
probably benign |
|
|
R3617:Zbtb49
|
UTSW |
5 |
38,357,975 (GRCm39) |
unclassified |
probably benign |
|
|
R4937:Zbtb49
|
UTSW |
5 |
38,371,307 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5579:Zbtb49
|
UTSW |
5 |
38,358,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5699:Zbtb49
|
UTSW |
5 |
38,373,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Zbtb49
|
UTSW |
5 |
38,360,903 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6426:Zbtb49
|
UTSW |
5 |
38,360,431 (GRCm39) |
splice site |
probably null |
|
|
R6735:Zbtb49
|
UTSW |
5 |
38,358,402 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6805:Zbtb49
|
UTSW |
5 |
38,370,585 (GRCm39) |
intron |
probably benign |
|
|
R6869:Zbtb49
|
UTSW |
5 |
38,371,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7020:Zbtb49
|
UTSW |
5 |
38,370,711 (GRCm39) |
nonsense |
probably null |
|
|
R7899:Zbtb49
|
UTSW |
5 |
38,371,274 (GRCm39) |
nonsense |
probably null |
|
|
R8041:Zbtb49
|
UTSW |
5 |
38,358,198 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8461:Zbtb49
|
UTSW |
5 |
38,358,453 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8517:Zbtb49
|
UTSW |
5 |
38,357,997 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8523:Zbtb49
|
UTSW |
5 |
38,370,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Zbtb49
|
UTSW |
5 |
38,358,289 (GRCm39) |
missense |
probably benign |
|
|
R9160:Zbtb49
|
UTSW |
5 |
38,363,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9301:Zbtb49
|
UTSW |
5 |
38,370,931 (GRCm39) |
missense |
probably benign |
|
|
R9315:Zbtb49
|
UTSW |
5 |
38,358,082 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9480:Zbtb49
|
UTSW |
5 |
38,358,409 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGTGTCTTCATTGCCAGCC -3'
(R):5'- TGATGCCTGTGTCTGTCAAGCTCC -3'
Sequencing Primer
(F):5'- CCCCAGAGAGTCATACTGGAG -3'
(R):5'- TGCAGCCTGTGGAAAGTTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation