Incidental Mutation 'IGL03192:Zbtb9'
| ID |
412689 |
| 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 # |
IGL03192
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
27192153-27195177 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27193272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 226
(T226A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081285]
[ENSMUST00000120016]
[ENSMUST00000133257]
[ENSMUST00000177932]
[ENSMUST00000194598]
[ENSMUST00000229490]
[ENSMUST00000231853]
[ENSMUST00000201702]
[ENSMUST00000228963]
|
| 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
AA Change: T226A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112778
Gene: ENSMUSG00000079605
AA Change: T226A
| 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: ENSMUST00000229490
|
| 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: ENSMUST00000231853
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202208
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228963
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
G |
A |
3: 137,933,721 (GRCm39) |
G293S |
probably damaging |
Het |
| Ahi1 |
G |
A |
10: 20,841,534 (GRCm39) |
V274I |
probably benign |
Het |
| Arfip2 |
C |
T |
7: 105,287,150 (GRCm39) |
R138H |
probably damaging |
Het |
| Asb8 |
G |
A |
15: 98,033,776 (GRCm39) |
R260C |
possibly damaging |
Het |
| Cfh |
A |
T |
1: 140,026,759 (GRCm39) |
H531Q |
possibly damaging |
Het |
| Clcn7 |
C |
A |
17: 25,352,575 (GRCm39) |
P42Q |
probably benign |
Het |
| Cxcr6 |
G |
T |
9: 123,639,111 (GRCm39) |
K37N |
possibly damaging |
Het |
| Fndc3c1 |
C |
T |
X: 105,479,922 (GRCm39) |
|
probably null |
Het |
| Gramd1b |
A |
T |
9: 40,218,097 (GRCm39) |
L429H |
probably damaging |
Het |
| Grm1 |
T |
C |
10: 10,955,660 (GRCm39) |
D208G |
possibly damaging |
Het |
| H2-T24 |
C |
T |
17: 36,326,368 (GRCm39) |
W177* |
probably null |
Het |
| Il17rc |
G |
A |
6: 113,449,846 (GRCm39) |
V151M |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,950,562 (GRCm39) |
F741S |
probably damaging |
Het |
| Neil1 |
A |
G |
9: 57,050,819 (GRCm39) |
S339P |
probably benign |
Het |
| Nptx1 |
T |
A |
11: 119,437,585 (GRCm39) |
N182I |
probably benign |
Het |
| Or3a1c |
T |
A |
11: 74,046,076 (GRCm39) |
I32K |
probably benign |
Het |
| Phtf2 |
A |
G |
5: 20,966,717 (GRCm39) |
V723A |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,680,540 (GRCm39) |
M1047I |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,084,653 (GRCm39) |
I15V |
probably damaging |
Het |
| Rtbdn |
T |
A |
8: 85,679,284 (GRCm39) |
S30T |
probably benign |
Het |
| Serinc4 |
G |
T |
2: 121,282,872 (GRCm39) |
S430* |
probably null |
Het |
| Slc25a33 |
A |
G |
4: 149,829,223 (GRCm39) |
I312T |
probably damaging |
Het |
| Speer3 |
A |
G |
5: 13,841,702 (GRCm39) |
R11G |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,291,709 (GRCm39) |
|
probably benign |
Het |
| Unc93a |
A |
T |
17: 13,335,073 (GRCm39) |
Y324* |
probably null |
Het |
| Wdr31 |
A |
T |
4: 62,372,149 (GRCm39) |
D322E |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,657,748 (GRCm39) |
E721G |
possibly damaging |
Het |
|
| Other mutations in Zbtb9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Zbtb9
|
APN |
17 |
27,193,985 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02266:Zbtb9
|
APN |
17 |
27,193,129 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2016-08-02 |
Incidental Mutation