Incidental Mutation 'R6066:Zbtb42'
| ID |
484052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb42
|
| Ensembl Gene |
ENSMUSG00000037638 |
| Gene Name |
zinc finger and BTB domain containing 42 |
| Synonyms |
simiRP58, Gm5188 |
| MMRRC Submission |
044230-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6066 (G1)
|
| Quality Score |
156.008 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
112645262-112649181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 112646041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 72
(T72K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000144550]
[ENSMUST00000169593]
[ENSMUST00000173942]
[ENSMUST00000174780]
|
| AlphaFold |
Q811H0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144550
|
| SMART Domains |
Protein: ENSMUSP00000123689
Gene: ENSMUSG00000001729
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
6 |
110 |
2.41e-16 |
SMART |
|
Pfam:Pkinase
|
150 |
202 |
2.6e-6 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169593
AA Change: T72K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133152
Gene: ENSMUSG00000037638
AA Change: T72K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
21 |
N/A |
INTRINSIC |
|
BTB
|
24 |
122 |
8.88e-22 |
SMART |
|
low complexity region
|
226 |
241 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
292 |
314 |
3.02e0 |
SMART |
|
ZnF_C2H2
|
332 |
354 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
360 |
382 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
388 |
411 |
2.71e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173942
|
| SMART Domains |
Protein: ENSMUSP00000133987
Gene: ENSMUSG00000037638
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BTB
|
1 |
40 |
8e-22 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174780
|
| SMART Domains |
Protein: ENSMUSP00000134028
Gene: ENSMUSG00000037638
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
1 |
40 |
1.3e-5 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,412,308 (GRCm39) |
F429S |
probably damaging |
Het |
| Ahi1 |
A |
T |
10: 20,835,825 (GRCm39) |
M53L |
possibly damaging |
Het |
| Ahr |
A |
T |
12: 35,554,920 (GRCm39) |
F400I |
probably damaging |
Het |
| Ak7 |
G |
T |
12: 105,699,750 (GRCm39) |
G223V |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 80,726,698 (GRCm39) |
I128V |
possibly damaging |
Het |
| Ampd3 |
A |
T |
7: 110,392,974 (GRCm39) |
E247D |
probably benign |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Arhgef10l |
A |
G |
4: 140,304,391 (GRCm39) |
F243L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,269,537 (GRCm39) |
V661E |
probably damaging |
Het |
| Cox8c |
A |
G |
12: 102,866,534 (GRCm39) |
T53A |
probably benign |
Het |
| Creld2 |
C |
A |
15: 88,707,969 (GRCm39) |
T236K |
possibly damaging |
Het |
| Cul3 |
A |
T |
1: 80,261,476 (GRCm39) |
C250S |
probably benign |
Het |
| Dhx37 |
A |
C |
5: 125,501,730 (GRCm39) |
F510V |
probably benign |
Het |
| Fblim1 |
T |
C |
4: 141,305,220 (GRCm39) |
D350G |
probably damaging |
Het |
| Lipm |
A |
G |
19: 34,090,374 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mfsd4b4 |
A |
G |
10: 39,768,049 (GRCm39) |
F348S |
probably benign |
Het |
| Misp |
A |
G |
10: 79,662,146 (GRCm39) |
R188G |
possibly damaging |
Het |
| Nbeal1 |
T |
G |
1: 60,287,564 (GRCm39) |
I936S |
probably benign |
Het |
| Ngly1 |
G |
A |
14: 16,294,634 (GRCm38) |
M521I |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,257,510 (GRCm39) |
Y376F |
probably benign |
Het |
| Oas3 |
T |
C |
5: 120,910,989 (GRCm39) |
K197R |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,511,276 (GRCm39) |
Y353H |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,822,828 (GRCm39) |
N625D |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,391,525 (GRCm39) |
S1530R |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,799,740 (GRCm39) |
P457L |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,831,258 (GRCm39) |
S565P |
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,726,301 (GRCm39) |
M163V |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,229,171 (GRCm39) |
T2890A |
unknown |
Het |
| Tatdn3 |
A |
T |
1: 190,778,465 (GRCm39) |
V242E |
probably benign |
Het |
| Vmn1r22 |
T |
G |
6: 57,877,864 (GRCm39) |
M38L |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,258,573 (GRCm39) |
F524L |
possibly damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,477,695 (GRCm39) |
S239P |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,919,778 (GRCm39) |
D679G |
probably null |
Het |
| Zfp493 |
G |
A |
13: 67,935,069 (GRCm39) |
A341T |
possibly damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,801 (GRCm39) |
C80R |
possibly damaging |
Het |
|
| Other mutations in Zbtb42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Zbtb42
|
APN |
12 |
112,646,718 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0607:Zbtb42
|
UTSW |
12 |
112,647,061 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4586:Zbtb42
|
UTSW |
12 |
112,646,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4607:Zbtb42
|
UTSW |
12 |
112,646,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Zbtb42
|
UTSW |
12 |
112,646,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4890:Zbtb42
|
UTSW |
12 |
112,646,861 (GRCm39) |
nonsense |
probably null |
|
|
R5143:Zbtb42
|
UTSW |
12 |
112,645,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Zbtb42
|
UTSW |
12 |
112,647,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Zbtb42
|
UTSW |
12 |
112,645,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Zbtb42
|
UTSW |
12 |
112,646,824 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8092:Zbtb42
|
UTSW |
12 |
112,646,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8253:Zbtb42
|
UTSW |
12 |
112,646,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Zbtb42
|
UTSW |
12 |
112,645,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9086:Zbtb42
|
UTSW |
12 |
112,645,848 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1176:Zbtb42
|
UTSW |
12 |
112,646,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTGCCCAGGTGATGACTG -3'
(R):5'- TAGCCTTGACCCCTAGAGATGG -3'
Sequencing Primer
(F):5'- ATGGAGTTCCCGGAGCAC -3'
(R):5'- AAGCTCTGTCCCCAGCGTAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation