Incidental Mutation 'IGL03390:Zbtb6'
| ID |
421017 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb6
|
| Ensembl Gene |
ENSMUSG00000066798 |
| Gene Name |
zinc finger and BTB domain containing 6 |
| Synonyms |
Zfp482, A830092L04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
IGL03390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
37315512-37320931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 37319584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 115
(I115L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053098]
[ENSMUST00000067043]
[ENSMUST00000112932]
|
| AlphaFold |
Q8K088 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053098
AA Change: I115L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056100
Gene: ENSMUSG00000066798
AA Change: I115L
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
127 |
2.67e-16 |
SMART |
|
Blast:BTB
|
161 |
196 |
1e-5 |
BLAST |
|
ZnF_C2H2
|
300 |
322 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
381 |
404 |
8.81e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067043
|
| SMART Domains |
Protein: ENSMUSP00000070071
Gene: ENSMUSG00000050714
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
127 |
4.38e-12 |
SMART |
|
low complexity region
|
169 |
179 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
273 |
295 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
354 |
377 |
2.09e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112932
AA Change: I115L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108554
Gene: ENSMUSG00000066798
AA Change: I115L
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
127 |
2.67e-16 |
SMART |
|
Blast:BTB
|
161 |
196 |
1e-5 |
BLAST |
|
ZnF_C2H2
|
300 |
322 |
7.15e-2 |
SMART |
|
ZnF_C2H2
|
325 |
347 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
353 |
375 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
381 |
404 |
8.81e-2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
A |
G |
8: 125,566,564 (GRCm39) |
|
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,359,997 (GRCm39) |
Y1127C |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,524,863 (GRCm39) |
L134* |
probably null |
Het |
| Col11a1 |
A |
G |
3: 113,883,902 (GRCm39) |
D257G |
unknown |
Het |
| Cthrc1 |
T |
A |
15: 38,940,529 (GRCm39) |
I44N |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,952,288 (GRCm39) |
Y545H |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,885,069 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
A |
G |
14: 67,661,558 (GRCm39) |
N562S |
probably benign |
Het |
| Fem1b |
G |
A |
9: 62,704,246 (GRCm39) |
A338V |
probably benign |
Het |
| Gga3 |
A |
T |
11: 115,477,820 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
A |
T |
14: 51,760,914 (GRCm39) |
H161L |
probably benign |
Het |
| Gm7367 |
A |
G |
7: 59,805,517 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp5a |
T |
G |
7: 139,105,664 (GRCm39) |
V213G |
probably benign |
Het |
| Kcns3 |
T |
C |
12: 11,141,233 (GRCm39) |
T489A |
probably benign |
Het |
| Kifc3 |
G |
A |
8: 95,835,241 (GRCm39) |
A211V |
probably damaging |
Het |
| Krt71 |
T |
C |
15: 101,642,987 (GRCm39) |
D507G |
possibly damaging |
Het |
| Lama5 |
T |
C |
2: 179,849,011 (GRCm39) |
Y224C |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,386,857 (GRCm39) |
L2421P |
unknown |
Het |
| Mtch2 |
C |
T |
2: 90,689,894 (GRCm39) |
T205I |
probably benign |
Het |
| Or1o11 |
T |
C |
17: 37,757,255 (GRCm39) |
V281A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,488,490 (GRCm39) |
C537* |
probably null |
Het |
| Prl2a1 |
T |
C |
13: 27,985,699 (GRCm39) |
V5A |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,787,192 (GRCm39) |
Y354C |
probably benign |
Het |
| Rimklb |
C |
T |
6: 122,433,280 (GRCm39) |
S347N |
possibly damaging |
Het |
| Rnase2a |
T |
C |
14: 51,492,945 (GRCm39) |
D140G |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,787,302 (GRCm39) |
P1017S |
probably benign |
Het |
| Slc3a1 |
A |
G |
17: 85,340,205 (GRCm39) |
D209G |
probably damaging |
Het |
| Sntn |
T |
A |
14: 13,682,205 (GRCm38) |
|
probably benign |
Het |
| Tal2 |
G |
T |
4: 53,785,994 (GRCm39) |
L58F |
probably damaging |
Het |
| Trim39 |
T |
C |
17: 36,571,463 (GRCm39) |
K432E |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,329,501 (GRCm39) |
M219K |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,767 (GRCm39) |
I311L |
possibly damaging |
Het |
| Wfdc17 |
A |
T |
11: 83,595,611 (GRCm39) |
|
probably benign |
Het |
| Zfp750 |
A |
T |
11: 121,402,770 (GRCm39) |
C659* |
probably null |
Het |
|
| Other mutations in Zbtb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01951:Zbtb6
|
APN |
2 |
37,319,343 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02981:Zbtb6
|
APN |
2 |
37,319,176 (GRCm39) |
nonsense |
probably null |
|
|
R0164:Zbtb6
|
UTSW |
2 |
37,319,600 (GRCm39) |
nonsense |
probably null |
|
|
R0164:Zbtb6
|
UTSW |
2 |
37,319,600 (GRCm39) |
nonsense |
probably null |
|
|
R0470:Zbtb6
|
UTSW |
2 |
37,319,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1472:Zbtb6
|
UTSW |
2 |
37,319,356 (GRCm39) |
missense |
probably benign |
|
|
R1606:Zbtb6
|
UTSW |
2 |
37,319,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1824:Zbtb6
|
UTSW |
2 |
37,319,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Zbtb6
|
UTSW |
2 |
37,319,054 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4838:Zbtb6
|
UTSW |
2 |
37,318,728 (GRCm39) |
nonsense |
probably null |
|
|
R5000:Zbtb6
|
UTSW |
2 |
37,319,251 (GRCm39) |
missense |
probably benign |
|
|
R5816:Zbtb6
|
UTSW |
2 |
37,319,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6005:Zbtb6
|
UTSW |
2 |
37,318,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6152:Zbtb6
|
UTSW |
2 |
37,319,255 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6390:Zbtb6
|
UTSW |
2 |
37,318,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7657:Zbtb6
|
UTSW |
2 |
37,319,087 (GRCm39) |
missense |
probably benign |
|
|
R7866:Zbtb6
|
UTSW |
2 |
37,319,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8310:Zbtb6
|
UTSW |
2 |
37,319,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Zbtb6
|
UTSW |
2 |
37,318,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation