Incidental Mutation 'IGL01133:Zbtb9'
| ID |
53105 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbtb9
|
| Ensembl Gene |
ENSMUSG00000079605 |
| Gene Name |
zinc finger and BTB domain containing 9 |
| Synonyms |
3930402F13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
IGL01133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
27192153-27195177 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to T
at 27193985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081285]
[ENSMUST00000120016]
[ENSMUST00000133257]
[ENSMUST00000177932]
[ENSMUST00000194598]
[ENSMUST00000228963]
[ENSMUST00000231853]
[ENSMUST00000229490]
[ENSMUST00000201702]
|
| AlphaFold |
Q8CDC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081285
|
| SMART Domains |
Protein: ENSMUSP00000080038
Gene: ENSMUSG00000067629
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
27 |
253 |
3.23e-8 |
SMART |
|
C2
|
263 |
362 |
7.4e-10 |
SMART |
|
RasGAP
|
392 |
729 |
3.33e-118 |
SMART |
|
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1040 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1125 |
N/A |
INTRINSIC |
|
coiled coil region
|
1186 |
1259 |
N/A |
INTRINSIC |
|
low complexity region
|
1308 |
1326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120016
|
| SMART Domains |
Protein: ENSMUSP00000112778
Gene: ENSMUSG00000079605
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
BTB
|
48 |
142 |
4.08e-21 |
SMART |
|
low complexity region
|
144 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
397 |
419 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
424 |
444 |
4.99e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133257
|
| SMART Domains |
Protein: ENSMUSP00000115777
Gene: ENSMUSG00000048731
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
264 |
280 |
1.14e-6 |
PROSPERO |
|
Pfam:Ubiquitin_3
|
281 |
368 |
1.5e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177932
|
| SMART Domains |
Protein: ENSMUSP00000137587
Gene: ENSMUSG00000067629
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
27 |
253 |
3.23e-8 |
SMART |
|
C2
|
263 |
362 |
7.4e-10 |
SMART |
|
RasGAP
|
392 |
729 |
3.33e-118 |
SMART |
|
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1040 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1125 |
N/A |
INTRINSIC |
|
coiled coil region
|
1186 |
1259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193200
|
| SMART Domains |
Protein: ENSMUSP00000141245
Gene: ENSMUSG00000067629
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
12 |
238 |
1.5e-10 |
SMART |
|
C2
|
248 |
347 |
4.8e-12 |
SMART |
|
RasGAP
|
377 |
714 |
2.1e-120 |
SMART |
|
low complexity region
|
772 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
923 |
958 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1053 |
N/A |
INTRINSIC |
|
low complexity region
|
1095 |
1110 |
N/A |
INTRINSIC |
|
coiled coil region
|
1171 |
1244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194598
|
| SMART Domains |
Protein: ENSMUSP00000141686
Gene: ENSMUSG00000067629
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
27 |
253 |
3.23e-8 |
SMART |
|
C2
|
263 |
362 |
7.4e-10 |
SMART |
|
RasGAP
|
392 |
729 |
3.33e-118 |
SMART |
|
low complexity region
|
787 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
973 |
N/A |
INTRINSIC |
|
low complexity region
|
1040 |
1068 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1125 |
N/A |
INTRINSIC |
|
coiled coil region
|
1186 |
1259 |
N/A |
INTRINSIC |
|
low complexity region
|
1308 |
1326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201186
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201349
|
| SMART Domains |
Protein: ENSMUSP00000144666
Gene: ENSMUSG00000067629
| Domain | Start | End | E-Value | Type |
|---|
|
RasGAP
|
9 |
346 |
2.2e-120 |
SMART |
|
low complexity region
|
404 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
742 |
N/A |
INTRINSIC |
|
Blast:RasGAP
|
761 |
876 |
3e-21 |
BLAST |
|
low complexity region
|
884 |
894 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228963
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201702
|
| SMART Domains |
Protein: ENSMUSP00000144248
Gene: ENSMUSG00000067629
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
27 |
253 |
1.5e-10 |
SMART |
|
C2
|
263 |
362 |
4.9e-12 |
SMART |
|
RasGAP
|
392 |
729 |
2.2e-120 |
SMART |
|
low complexity region
|
773 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
959 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1111 |
N/A |
INTRINSIC |
|
coiled coil region
|
1171 |
1243 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adam4 |
T |
C |
12: 81,468,220 (GRCm39) |
T134A |
possibly damaging |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Cartpt |
T |
G |
13: 100,036,548 (GRCm39) |
I67L |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ccer1 |
T |
C |
10: 97,530,401 (GRCm39) |
F355L |
probably benign |
Het |
| Cert1 |
A |
G |
13: 96,751,310 (GRCm39) |
E320G |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cfap299 |
T |
C |
5: 98,646,240 (GRCm39) |
|
probably null |
Het |
| Cfap36 |
A |
C |
11: 29,184,414 (GRCm39) |
V114G |
probably damaging |
Het |
| Cyp2b9 |
G |
A |
7: 25,909,660 (GRCm39) |
G476D |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,961,120 (GRCm39) |
Y58H |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,615,410 (GRCm39) |
Y411C |
probably damaging |
Het |
| Gm27029 |
G |
T |
11: 101,302,786 (GRCm39) |
F236L |
possibly damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,484 (GRCm39) |
T501A |
probably benign |
Het |
| Heg1 |
C |
T |
16: 33,547,657 (GRCm39) |
H815Y |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,756,628 (GRCm39) |
D298E |
probably damaging |
Het |
| Mecr |
T |
A |
4: 131,570,907 (GRCm39) |
S32T |
probably benign |
Het |
| Med1 |
A |
T |
11: 98,048,812 (GRCm39) |
Y661* |
probably null |
Het |
| Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
| Pla2g12b |
G |
T |
10: 59,252,239 (GRCm39) |
A37S |
probably benign |
Het |
| Plekha7 |
G |
T |
7: 115,744,476 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,689,133 (GRCm39) |
I1989V |
probably damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,689,144 (GRCm39) |
H1938R |
probably damaging |
Het |
| Sanbr |
A |
T |
11: 23,545,434 (GRCm39) |
D486E |
probably damaging |
Het |
| Sec31b |
A |
G |
19: 44,515,480 (GRCm39) |
F309S |
probably damaging |
Het |
| Serpina3a |
T |
C |
12: 104,087,758 (GRCm39) |
I227T |
probably benign |
Het |
| Slc1a3 |
A |
G |
15: 8,675,171 (GRCm39) |
I278T |
probably damaging |
Het |
| Slc1a3 |
T |
C |
15: 8,680,477 (GRCm39) |
Y127C |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,217,212 (GRCm39) |
K449R |
unknown |
Het |
| Thoc2l |
A |
G |
5: 104,665,528 (GRCm39) |
T17A |
probably benign |
Het |
| Tmem130 |
A |
G |
5: 144,689,255 (GRCm39) |
S129P |
probably damaging |
Het |
| Trim68 |
A |
T |
7: 102,328,348 (GRCm39) |
|
probably null |
Het |
| Vdac3-ps1 |
T |
C |
13: 18,206,034 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r75 |
A |
G |
7: 85,797,240 (GRCm39) |
|
probably benign |
Het |
| Zfp568 |
T |
A |
7: 29,687,233 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zbtb9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02266:Zbtb9
|
APN |
17 |
27,193,129 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03192:Zbtb9
|
APN |
17 |
27,193,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4377001:Zbtb9
|
UTSW |
17 |
27,193,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Zbtb9
|
UTSW |
17 |
27,193,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1350:Zbtb9
|
UTSW |
17 |
27,193,380 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1386:Zbtb9
|
UTSW |
17 |
27,193,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Zbtb9
|
UTSW |
17 |
27,193,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Zbtb9
|
UTSW |
17 |
27,193,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Zbtb9
|
UTSW |
17 |
27,193,098 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4196:Zbtb9
|
UTSW |
17 |
27,192,853 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7202:Zbtb9
|
UTSW |
17 |
27,193,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8225:Zbtb9
|
UTSW |
17 |
27,193,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8544:Zbtb9
|
UTSW |
17 |
27,193,448 (GRCm39) |
nonsense |
probably null |
|
|
R9688:Zbtb9
|
UTSW |
17 |
27,193,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation