Incidental Mutation 'V5622:Zbtb12'
ID |
152528 |
Institutional Source |
Beutler Lab
|
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: 0.122)
|
Stock # |
V5622 ()
of strain
521
|
Quality Score |
157 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35113514-35115820 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 35115277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 354
(A354E)
|
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 |
possibly damaging
Transcript: ENSMUST00000052778
AA Change: A354E
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000057515 Gene: ENSMUSG00000049823 AA Change: A354E
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 |
noncoding transcript
Transcript: ENSMUST00000174880
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174279
|
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 |
|
Meta Mutation Damage Score |
0.1822 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 9 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
C |
T |
4: 148,026,233 (GRCm39) |
S251F |
probably benign |
Het |
Ccar2 |
G |
T |
14: 70,388,738 (GRCm39) |
L158I |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Homo |
Hspg2 |
C |
A |
4: 137,261,049 (GRCm39) |
Q1648K |
probably damaging |
Het |
Hvcn1 |
TGAGGAGGAGGAGGAGGAG |
TGAGGAGGAGGAGGAG |
5: 122,371,602 (GRCm39) |
|
probably benign |
Het |
Megf11 |
C |
A |
9: 64,597,351 (GRCm39) |
C674* |
probably null |
Het |
Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
|
Other mutations in Zbtb12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02290:Zbtb12
|
APN |
17 |
35,114,448 (GRCm39) |
missense |
probably damaging |
0.98 |
R0445:Zbtb12
|
UTSW |
17 |
35,115,277 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1027:Zbtb12
|
UTSW |
17 |
35,115,284 (GRCm39) |
frame shift |
probably null |
|
R1673:Zbtb12
|
UTSW |
17 |
35,115,286 (GRCm39) |
frame shift |
probably null |
|
R1673:Zbtb12
|
UTSW |
17 |
35,115,284 (GRCm39) |
frame shift |
probably null |
|
R2368:Zbtb12
|
UTSW |
17 |
35,114,674 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2880:Zbtb12
|
UTSW |
17 |
35,114,455 (GRCm39) |
missense |
probably damaging |
0.99 |
R3908:Zbtb12
|
UTSW |
17 |
35,115,244 (GRCm39) |
splice site |
probably null |
|
R4705:Zbtb12
|
UTSW |
17 |
35,115,377 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4707:Zbtb12
|
UTSW |
17 |
35,114,475 (GRCm39) |
missense |
probably damaging |
0.97 |
R4837:Zbtb12
|
UTSW |
17 |
35,114,985 (GRCm39) |
missense |
probably benign |
|
R5665:Zbtb12
|
UTSW |
17 |
35,114,859 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9090:Zbtb12
|
UTSW |
17 |
35,114,320 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9271:Zbtb12
|
UTSW |
17 |
35,114,320 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9458:Zbtb12
|
UTSW |
17 |
35,115,367 (GRCm39) |
missense |
possibly damaging |
0.85 |
V5088:Zbtb12
|
UTSW |
17 |
35,115,277 (GRCm39) |
missense |
possibly damaging |
0.83 |
V5622:Zbtb12
|
UTSW |
17 |
35,115,277 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAAGTGGCACACCGGCTCAAAC -3'
(R):5'- GGACATTGATCTCAGCCACACCAG -3'
Sequencing Primer
(F):5'- CATGCTACAGCCTGTCAGAG -3'
(R):5'- CTTGAGGTGCCGCCTAATG -3'
|
Posted On |
2014-01-29 |