Incidental Mutation 'R2880:Zbtb12'
| ID |
260298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb12
|
| Ensembl Gene |
ENSMUSG00000049823 |
| Gene Name |
zinc finger and BTB domain containing 12 |
| Synonyms |
Bat-9, Bat9 |
| MMRRC Submission |
040468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R2880 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35113514-35115820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35114455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 80
(I80N)
|
| 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: I80N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000057515
Gene: ENSMUSG00000049823
AA Change: I80N
| 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: ENSMUST00000174279
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174880
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
C |
T |
10: 88,948,661 (GRCm39) |
E150K |
probably damaging |
Het |
| Blnk |
T |
C |
19: 40,950,899 (GRCm39) |
Y84C |
probably damaging |
Het |
| Brinp3 |
G |
A |
1: 146,777,740 (GRCm39) |
R729H |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
| Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,242,946 (GRCm39) |
D1425G |
probably damaging |
Het |
| Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
| Gm4076 |
G |
A |
13: 85,275,357 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,401,978 (GRCm38) |
|
noncoding transcript |
Het |
| Greb1l |
A |
T |
18: 10,547,288 (GRCm39) |
N1502I |
possibly damaging |
Het |
| H13 |
A |
G |
2: 152,537,481 (GRCm39) |
M309V |
probably damaging |
Het |
| Lmf2 |
A |
G |
15: 89,235,856 (GRCm39) |
S683P |
possibly damaging |
Het |
| Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
| Maml2 |
A |
T |
9: 13,531,893 (GRCm39) |
|
probably null |
Het |
| Map3k14 |
C |
A |
11: 103,111,858 (GRCm39) |
R941L |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,337,006 (GRCm39) |
K262E |
probably damaging |
Het |
| Mtnr1b |
T |
G |
9: 15,774,102 (GRCm39) |
Y319S |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,188,090 (GRCm39) |
K954R |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,911,473 (GRCm39) |
D1486G |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,554,779 (GRCm39) |
V2623A |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,554,018 (GRCm39) |
Y463N |
probably damaging |
Het |
| Pex5l |
T |
A |
3: 33,047,152 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
T |
C |
5: 136,120,625 (GRCm39) |
V87A |
probably damaging |
Het |
| Rnf112 |
G |
A |
11: 61,341,293 (GRCm39) |
H431Y |
possibly damaging |
Het |
| Slc25a30 |
A |
G |
14: 76,007,651 (GRCm39) |
V118A |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,773,277 (GRCm38) |
I872K |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
T |
C |
3: 102,726,214 (GRCm39) |
E970G |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
| Tgfb2 |
T |
A |
1: 186,436,752 (GRCm39) |
T74S |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,613,094 (GRCm39) |
C42S |
probably 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 |
|
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 |
|
V5622:Zbtb12
|
UTSW |
17 |
35,115,277 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTTGCGGAACATGAACCAG -3'
(R):5'- ACTTGGTGGCACTGACACTG -3'
Sequencing Primer
(F):5'- GGAACATGAACCAGCTCCGTG -3'
(R):5'- TGGCACTGACACTGCTTAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation