Incidental Mutation 'IGL02290:Zbtb12'
| ID |
290051 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb12
|
| Ensembl Gene |
ENSMUSG00000049823 |
| Gene Name |
zinc finger and BTB domain containing 12 |
| Synonyms |
Bat-9, Bat9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
IGL02290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34879483-34896867 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34895472 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 78
(A78T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013931]
[ENSMUST00000052778]
[ENSMUST00000078061]
[ENSMUST00000097342]
[ENSMUST00000114033]
[ENSMUST00000148431]
[ENSMUST00000173093]
|
| AlphaFold |
Q9Z150 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013931
|
| SMART Domains |
Protein: ENSMUSP00000013931
Gene: ENSMUSG00000013787
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
47 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
627 |
N/A |
INTRINSIC |
|
ANK
|
737 |
766 |
2.52e-6 |
SMART |
|
ANK
|
770 |
799 |
1.19e-2 |
SMART |
|
ANK
|
803 |
833 |
4.71e-6 |
SMART |
|
ANK
|
837 |
866 |
2.9e-6 |
SMART |
|
ANK
|
870 |
899 |
1e0 |
SMART |
|
ANK
|
903 |
932 |
1.53e-5 |
SMART |
|
PreSET
|
976 |
1075 |
2.44e-40 |
SMART |
|
SET
|
1091 |
1214 |
4.08e-46 |
SMART |
|
PostSET
|
1217 |
1233 |
2.84e-1 |
SMART |
|
low complexity region
|
1245 |
1260 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052778
AA Change: A78T
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000057515
Gene: ENSMUSG00000049823
AA Change: A78T
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
127 |
1.5e-19 |
SMART |
|
low complexity region
|
138 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
327 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
333 |
356 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
359 |
381 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
387 |
409 |
1.25e-1 |
SMART |
|
ZnF_C2H2
|
415 |
438 |
4.54e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078061
|
| SMART Domains |
Protein: ENSMUSP00000077208
Gene: ENSMUSG00000013787
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
279 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
536 |
N/A |
INTRINSIC |
|
ANK
|
646 |
675 |
2.52e-6 |
SMART |
|
ANK
|
679 |
708 |
1.19e-2 |
SMART |
|
ANK
|
712 |
742 |
4.71e-6 |
SMART |
|
ANK
|
746 |
775 |
2.9e-6 |
SMART |
|
ANK
|
779 |
808 |
1e0 |
SMART |
|
ANK
|
812 |
841 |
1.53e-5 |
SMART |
|
PreSET
|
885 |
984 |
2.44e-40 |
SMART |
|
SET
|
1000 |
1123 |
4.08e-46 |
SMART |
|
PostSET
|
1126 |
1142 |
2.84e-1 |
SMART |
|
low complexity region
|
1154 |
1169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097342
|
| SMART Domains |
Protein: ENSMUSP00000094955
Gene: ENSMUSG00000013787
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
47 |
N/A |
INTRINSIC |
|
coiled coil region
|
336 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
593 |
N/A |
INTRINSIC |
|
ANK
|
703 |
732 |
2.52e-6 |
SMART |
|
ANK
|
736 |
765 |
1.19e-2 |
SMART |
|
ANK
|
769 |
799 |
4.71e-6 |
SMART |
|
ANK
|
803 |
832 |
2.9e-6 |
SMART |
|
ANK
|
836 |
865 |
1e0 |
SMART |
|
ANK
|
869 |
898 |
1.53e-5 |
SMART |
|
PreSET
|
942 |
1041 |
2.44e-40 |
SMART |
|
SET
|
1057 |
1180 |
4.08e-46 |
SMART |
|
PostSET
|
1183 |
1199 |
2.84e-1 |
SMART |
|
low complexity region
|
1211 |
1226 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114033
|
| SMART Domains |
Protein: ENSMUSP00000109667
Gene: ENSMUSG00000013787
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
coiled coil region
|
279 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
570 |
N/A |
INTRINSIC |
|
ANK
|
680 |
709 |
2.52e-6 |
SMART |
|
ANK
|
713 |
742 |
1.19e-2 |
SMART |
|
ANK
|
746 |
776 |
4.71e-6 |
SMART |
|
ANK
|
780 |
809 |
2.9e-6 |
SMART |
|
ANK
|
813 |
842 |
1e0 |
SMART |
|
ANK
|
846 |
875 |
1.53e-5 |
SMART |
|
PreSET
|
919 |
1018 |
2.44e-40 |
SMART |
|
SET
|
1034 |
1157 |
4.08e-46 |
SMART |
|
PostSET
|
1160 |
1176 |
2.84e-1 |
SMART |
|
low complexity region
|
1188 |
1203 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146418
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148431
|
| SMART Domains |
Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371
| Domain | Start | End | E-Value | Type |
|---|
|
VWA
|
33 |
187 |
2.33e0 |
SMART |
|
Tryp_SPc
|
191 |
470 |
4.43e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173093
|
| SMART Domains |
Protein: ENSMUSP00000133903
Gene: ENSMUSG00000049823
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
23 |
68 |
2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174880
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
G |
A |
13: 60,853,530 |
P128S |
probably damaging |
Het |
| Abca9 |
A |
G |
11: 110,135,351 |
V961A |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,452,649 |
|
probably benign |
Het |
| Col25a1 |
T |
A |
3: 130,519,811 |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,225,926 |
D617G |
probably damaging |
Het |
| Cpz |
T |
C |
5: 35,511,142 |
T375A |
probably benign |
Het |
| Faxc |
T |
A |
4: 21,993,390 |
S345T |
possibly damaging |
Het |
| Ganc |
C |
T |
2: 120,448,423 |
T707I |
possibly damaging |
Het |
| Hars2 |
T |
C |
18: 36,785,626 |
V55A |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 39,017,364 |
I156F |
probably benign |
Het |
| Mtrf1 |
G |
T |
14: 79,401,811 |
E128* |
probably null |
Het |
| Ndc1 |
T |
C |
4: 107,394,995 |
|
probably benign |
Het |
| Ntrk1 |
A |
C |
3: 87,781,771 |
N537K |
probably benign |
Het |
| Olfr1198 |
T |
C |
2: 88,746,385 |
T168A |
probably benign |
Het |
| Olfr23 |
A |
G |
11: 73,940,869 |
I208V |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,774,442 |
I1053T |
probably damaging |
Het |
| Slc27a4 |
T |
A |
2: 29,815,729 |
L643Q |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 105,833,487 |
P24T |
probably benign |
Het |
| Vmn1r78 |
A |
G |
7: 12,153,155 |
E231G |
probably damaging |
Het |
| Vmn2r124 |
T |
G |
17: 18,073,335 |
H561Q |
probably benign |
Het |
| Zp3r |
C |
T |
1: 130,619,365 |
V25I |
possibly damaging |
Het |
|
| Other mutations in Zbtb12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0445:Zbtb12
|
UTSW |
17 |
34896301 |
missense |
possibly damaging |
0.83 |
|
R1027:Zbtb12
|
UTSW |
17 |
34896308 |
frame shift |
probably null |
|
|
R1673:Zbtb12
|
UTSW |
17 |
34896308 |
frame shift |
probably null |
|
|
R1673:Zbtb12
|
UTSW |
17 |
34896310 |
frame shift |
probably null |
|
|
R2368:Zbtb12
|
UTSW |
17 |
34895698 |
missense |
possibly damaging |
0.96 |
|
R2880:Zbtb12
|
UTSW |
17 |
34895479 |
missense |
probably damaging |
0.99 |
|
R3908:Zbtb12
|
UTSW |
17 |
34896268 |
splice site |
probably null |
|
|
R4705:Zbtb12
|
UTSW |
17 |
34896401 |
missense |
possibly damaging |
0.93 |
|
R4707:Zbtb12
|
UTSW |
17 |
34895499 |
missense |
probably damaging |
0.97 |
|
R4837:Zbtb12
|
UTSW |
17 |
34896009 |
missense |
probably benign |
|
|
R5665:Zbtb12
|
UTSW |
17 |
34895883 |
missense |
possibly damaging |
0.93 |
|
R9090:Zbtb12
|
UTSW |
17 |
34895344 |
missense |
possibly damaging |
0.92 |
|
R9271:Zbtb12
|
UTSW |
17 |
34895344 |
missense |
possibly damaging |
0.92 |
|
R9458:Zbtb12
|
UTSW |
17 |
34896391 |
missense |
possibly damaging |
0.85 |
|
V5088:Zbtb12
|
UTSW |
17 |
34896301 |
missense |
possibly damaging |
0.83 |
|
V5622:Zbtb12
|
UTSW |
17 |
34896301 |
missense |
possibly damaging |
0.83 |
|
V5622:Zbtb12
|
UTSW |
17 |
34896301 |
missense |
possibly damaging |
0.83 |
|
| Posted On |
2015-04-16 |
Incidental Mutation