Incidental Mutation 'IGL01736:Zbtb49'
ID |
105718 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zbtb49
|
Ensembl Gene |
ENSMUSG00000029127 |
Gene Name |
zinc finger and BTB domain containing 49 |
Synonyms |
Zfp509, 4930518A03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
IGL01736
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
38347076-38377798 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38358204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 683
(Y683C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094833]
[ENSMUST00000123106]
[ENSMUST00000126267]
[ENSMUST00000136475]
[ENSMUST00000143436]
[ENSMUST00000138820]
|
AlphaFold |
Q8BXX2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094833
AA Change: Y683C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092429 Gene: ENSMUSG00000029127 AA Change: Y683C
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: 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: 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: 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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,326,503 (GRCm39) |
T290A |
possibly damaging |
Het |
Apip |
G |
A |
2: 102,917,486 (GRCm39) |
V62M |
probably damaging |
Het |
Appbp2 |
T |
C |
11: 85,105,143 (GRCm39) |
K141R |
possibly damaging |
Het |
Arhgef18 |
T |
A |
8: 3,501,624 (GRCm39) |
|
probably benign |
Het |
B3galt2 |
A |
G |
1: 143,522,583 (GRCm39) |
T240A |
probably benign |
Het |
Bivm |
A |
T |
1: 44,180,973 (GRCm39) |
N385I |
probably damaging |
Het |
Brd4 |
A |
T |
17: 32,417,649 (GRCm39) |
|
probably benign |
Het |
Cage1 |
T |
C |
13: 38,206,789 (GRCm39) |
D352G |
possibly damaging |
Het |
Ceacam10 |
A |
G |
7: 24,480,535 (GRCm39) |
Y102C |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,156,282 (GRCm39) |
D677G |
probably benign |
Het |
Dis3l |
T |
C |
9: 64,226,536 (GRCm39) |
|
probably null |
Het |
Dnah6 |
C |
T |
6: 73,165,360 (GRCm39) |
V582M |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,521,552 (GRCm39) |
L541P |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,391,444 (GRCm39) |
T384A |
possibly damaging |
Het |
Gdpd3 |
T |
C |
7: 126,365,695 (GRCm39) |
L18P |
probably damaging |
Het |
Grxcr2 |
T |
A |
18: 42,132,047 (GRCm39) |
K7N |
probably damaging |
Het |
Gulo |
A |
G |
14: 66,234,325 (GRCm39) |
F246L |
probably benign |
Het |
Inpp4b |
A |
T |
8: 82,723,968 (GRCm39) |
D500V |
probably benign |
Het |
Ints4 |
C |
T |
7: 97,175,849 (GRCm39) |
L647F |
probably benign |
Het |
Kif17 |
T |
A |
4: 138,013,876 (GRCm39) |
L264Q |
possibly damaging |
Het |
Kif21a |
T |
C |
15: 90,843,948 (GRCm39) |
N1104S |
possibly damaging |
Het |
Ly6e |
T |
G |
15: 74,830,546 (GRCm39) |
L132R |
probably benign |
Het |
Mis18bp1 |
T |
A |
12: 65,185,452 (GRCm39) |
H905L |
probably damaging |
Het |
Nr2f2 |
A |
G |
7: 70,004,446 (GRCm39) |
S269P |
probably damaging |
Het |
Or2b2b |
C |
A |
13: 21,858,787 (GRCm39) |
C109F |
probably benign |
Het |
Or2o1 |
G |
A |
11: 49,051,354 (GRCm39) |
C171Y |
probably damaging |
Het |
Or5d46 |
T |
A |
2: 88,170,771 (GRCm39) |
N287K |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,166,910 (GRCm39) |
I757V |
probably damaging |
Het |
Psg23 |
A |
T |
7: 18,346,122 (GRCm39) |
I191N |
possibly damaging |
Het |
Slc12a4 |
A |
T |
8: 106,672,475 (GRCm39) |
|
probably null |
Het |
Snph |
A |
T |
2: 151,436,093 (GRCm39) |
Y209* |
probably null |
Het |
Tnfaip3 |
T |
C |
10: 18,882,649 (GRCm39) |
H256R |
probably damaging |
Het |
Tnip3 |
T |
A |
6: 65,573,107 (GRCm39) |
|
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,243,386 (GRCm39) |
F1130Y |
probably damaging |
Het |
Twnk |
T |
G |
19: 44,998,627 (GRCm39) |
V515G |
probably damaging |
Het |
Usp24 |
T |
A |
4: 106,280,658 (GRCm39) |
I2324K |
probably benign |
Het |
Vwa7 |
T |
C |
17: 35,238,827 (GRCm39) |
F305S |
probably damaging |
Het |
Ythdc2 |
A |
T |
18: 44,983,735 (GRCm39) |
Q567L |
probably damaging |
Het |
Zbtb11 |
T |
A |
16: 55,818,523 (GRCm39) |
I649K |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,309,152 (GRCm39) |
M793L |
possibly damaging |
Het |
Zmym6 |
T |
G |
4: 127,002,437 (GRCm39) |
I556R |
probably damaging |
Het |
Zswim8 |
C |
T |
14: 20,764,780 (GRCm39) |
P717S |
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 |
|
PIT4585001:Zbtb49
|
UTSW |
5 |
38,373,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R0443:Zbtb49
|
UTSW |
5 |
38,358,174 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
|
Posted On |
2014-01-21 |