Incidental Mutation 'R8092:Zbtb42'
| ID |
629951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb42
|
| Ensembl Gene |
ENSMUSG00000037638 |
| Gene Name |
zinc finger and BTB domain containing 42 |
| Synonyms |
simiRP58, Gm5188 |
| MMRRC Submission |
067524-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8092 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
112645262-112649181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 112646275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 150
(C150F)
|
| 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: C150F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133152
Gene: ENSMUSG00000037638
AA Change: C150F
| 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 damaging
Transcript: ENSMUST00000173942
AA Change: C68F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133987
Gene: ENSMUSG00000037638
AA Change: C68F
| 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: 99.7%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
100% (40/40) |
| 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 |
|---|
| Adck1 |
T |
C |
12: 88,427,831 (GRCm39) |
S483P |
possibly damaging |
Het |
| Agr3 |
T |
A |
12: 35,997,593 (GRCm39) |
|
probably null |
Het |
| Anxa4 |
T |
C |
6: 86,718,873 (GRCm39) |
D282G |
probably damaging |
Het |
| Aplp2 |
A |
C |
9: 31,074,640 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,701,754 (GRCm39) |
V714M |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,278 (GRCm39) |
F1393I |
probably benign |
Het |
| Cfap206 |
G |
A |
4: 34,728,897 (GRCm39) |
P3S |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,261 (GRCm39) |
D1410E |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,455,184 (GRCm39) |
Y1101C |
probably damaging |
Het |
| Chtf8 |
A |
G |
8: 107,612,938 (GRCm39) |
V121A |
possibly damaging |
Het |
| Dnajc3 |
A |
T |
14: 119,207,994 (GRCm39) |
|
probably null |
Het |
| Dpys |
C |
T |
15: 39,710,010 (GRCm39) |
D140N |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,415,029 (GRCm39) |
Y642C |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,272,513 (GRCm39) |
V901I |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 28,057,823 (GRCm39) |
M1127T |
unknown |
Het |
| Gnpnat1 |
A |
G |
14: 45,618,388 (GRCm39) |
|
probably null |
Het |
| Hsd3b6 |
T |
A |
3: 98,713,456 (GRCm39) |
D281V |
possibly damaging |
Het |
| Kng2 |
T |
A |
16: 22,806,672 (GRCm39) |
Q509L |
probably benign |
Het |
| Lipo2 |
A |
T |
19: 33,726,880 (GRCm39) |
D52E |
probably benign |
Het |
| Ly6g6c |
A |
G |
17: 35,287,867 (GRCm39) |
Y27C |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,892,299 (GRCm39) |
T105I |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,891 (GRCm39) |
K1279E |
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,819 (GRCm39) |
Y55H |
probably damaging |
Het |
| Ntn4 |
A |
C |
10: 93,576,918 (GRCm39) |
K529Q |
probably damaging |
Het |
| Or4f57 |
C |
A |
2: 111,790,652 (GRCm39) |
M255I |
probably benign |
Het |
| P2ry14 |
C |
T |
3: 59,022,867 (GRCm39) |
V198M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,727,560 (GRCm39) |
D2139E |
unknown |
Het |
| Plxnb1 |
T |
A |
9: 108,929,573 (GRCm39) |
V143E |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,097,357 (GRCm39) |
D954Y |
probably damaging |
Het |
| Qrsl1 |
G |
A |
10: 43,760,749 (GRCm39) |
P278L |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,724,479 (GRCm39) |
R1108C |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,145,907 (GRCm39) |
S1716G |
probably benign |
Het |
| Slfn4 |
A |
T |
11: 83,079,831 (GRCm39) |
H507L |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,685 (GRCm39) |
E416G |
probably damaging |
Het |
| Srp9 |
T |
C |
1: 181,959,001 (GRCm39) |
V81A |
probably benign |
Het |
| Tex101 |
G |
A |
7: 24,369,778 (GRCm39) |
T62M |
probably damaging |
Het |
| Utp25 |
G |
A |
1: 192,802,671 (GRCm39) |
L349F |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
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 |
|
R6066:Zbtb42
|
UTSW |
12 |
112,646,041 (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 |
|
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'- TGCACAACCTACCTGTCGAG -3'
(R):5'- ACGAATCTTGCTCAGCCTTC -3'
Sequencing Primer
(F):5'- AACCTACCTGTCGAGGACGTC -3'
(R):5'- TTGCTCAGCCTTCACCAGAGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation