Incidental Mutation 'IGL01355:Zbtb49'
| ID |
75508 |
| 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 # |
IGL01355
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
38347076-38377798 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 38367960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094833]
[ENSMUST00000114113]
[ENSMUST00000123106]
[ENSMUST00000126267]
[ENSMUST00000136475]
[ENSMUST00000143436]
[ENSMUST00000138820]
|
| AlphaFold |
Q8BXX2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094833
|
| SMART Domains |
Protein: ENSMUSP00000092429
Gene: ENSMUSG00000029127
| 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: ENSMUST00000114113
|
| SMART Domains |
Protein: ENSMUSP00000109748
Gene: ENSMUSG00000029127
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
25 |
121 |
2.97e-23 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.38e-3 |
SMART |
|
low complexity region
|
413 |
430 |
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 |
noncoding transcript
Transcript: ENSMUST00000137577
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
C |
T |
4: 153,470,938 (GRCm39) |
V290I |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,277,335 (GRCm39) |
|
probably benign |
Het |
| Anxa4 |
A |
T |
6: 86,729,187 (GRCm39) |
I140N |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,268,087 (GRCm39) |
|
probably benign |
Het |
| Cd36 |
C |
T |
5: 18,018,072 (GRCm39) |
V214I |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,020,637 (GRCm39) |
L336S |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
| Gpr146 |
A |
T |
5: 139,364,659 (GRCm39) |
|
probably benign |
Het |
| Irf1 |
T |
C |
11: 53,665,187 (GRCm39) |
V188A |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,686,754 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
T |
C |
13: 113,135,603 (GRCm39) |
F342S |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,533,074 (GRCm39) |
T141A |
probably benign |
Het |
| Mnd1 |
C |
A |
3: 84,023,784 (GRCm39) |
A101S |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,452,211 (GRCm39) |
S466P |
probably damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,438 (GRCm39) |
I296K |
probably benign |
Het |
| Or52z12 |
A |
G |
7: 103,233,580 (GRCm39) |
E117G |
probably damaging |
Het |
| Pik3c2g |
G |
T |
6: 139,798,583 (GRCm39) |
G371V |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,450,538 (GRCm39) |
V199A |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,943,637 (GRCm39) |
V172I |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,470,685 (GRCm39) |
T54A |
possibly damaging |
Het |
| Tmem121b |
A |
G |
6: 120,469,427 (GRCm39) |
L430P |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,446,019 (GRCm39) |
D384G |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,588 (GRCm39) |
T871A |
possibly damaging |
Het |
| Vegfa |
T |
C |
17: 46,336,347 (GRCm39) |
M258V |
possibly damaging |
Het |
|
| Other mutations in Zbtb49 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation