Incidental Mutation 'R5143:Zbtb42'
| ID |
396533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb42
|
| Ensembl Gene |
ENSMUSG00000037638 |
| Gene Name |
zinc finger and BTB domain containing 42 |
| Synonyms |
simiRP58, Gm5188 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5143 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
112645262-112649181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112645948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 41
(V41A)
|
| 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: V41A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133152
Gene: ENSMUSG00000037638
AA Change: V41A
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,887,064 (GRCm39) |
|
probably null |
Het |
| Abcc2 |
T |
C |
19: 43,810,100 (GRCm39) |
I886T |
probably benign |
Het |
| Adrb2 |
T |
C |
18: 62,311,847 (GRCm39) |
Y326C |
probably damaging |
Het |
| Aplp1 |
G |
A |
7: 30,140,548 (GRCm39) |
R334C |
probably damaging |
Het |
| AY358078 |
T |
C |
14: 52,040,006 (GRCm39) |
S39P |
unknown |
Het |
| Bpifb2 |
A |
T |
2: 153,720,424 (GRCm39) |
D61V |
probably damaging |
Het |
| Caap1 |
A |
T |
4: 94,389,619 (GRCm39) |
N238K |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,865,020 (GRCm39) |
V726A |
possibly damaging |
Het |
| Chrna7 |
T |
C |
7: 62,755,895 (GRCm39) |
Y217C |
probably damaging |
Het |
| Crocc |
T |
A |
4: 140,768,350 (GRCm39) |
T414S |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,158,744 (GRCm39) |
F620I |
possibly damaging |
Het |
| Eogt |
A |
G |
6: 97,102,545 (GRCm39) |
L256P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,039,397 (GRCm39) |
I2002M |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,922,493 (GRCm39) |
|
probably null |
Het |
| Fut8 |
A |
G |
12: 77,411,983 (GRCm39) |
D111G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,719,051 (GRCm39) |
A319V |
probably benign |
Het |
| Hoxd3 |
C |
T |
2: 74,576,716 (GRCm39) |
R39C |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Or52b1 |
T |
A |
7: 104,978,731 (GRCm39) |
I223F |
probably damaging |
Het |
| Pate8 |
T |
A |
9: 36,493,200 (GRCm39) |
N41Y |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,785 (GRCm39) |
Y586C |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,519 (GRCm39) |
Q442* |
probably null |
Het |
| Plppr5 |
A |
G |
3: 117,419,552 (GRCm39) |
T207A |
probably benign |
Het |
| Pomt1 |
C |
A |
2: 32,144,341 (GRCm39) |
A709E |
probably benign |
Het |
| Prmt8 |
A |
G |
6: 127,709,677 (GRCm39) |
M61T |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,214,506 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,021,747 (GRCm39) |
K493* |
probably null |
Het |
| Semp2l2a |
A |
G |
8: 13,886,844 (GRCm39) |
S416P |
possibly damaging |
Het |
| Tmc2 |
A |
T |
2: 130,076,738 (GRCm39) |
S355C |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,520,857 (GRCm39) |
S399P |
possibly damaging |
Het |
| Ttc14 |
T |
C |
3: 33,863,050 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,568,409 (GRCm39) |
S19168P |
probably damaging |
Het |
| Usp17lb |
A |
T |
7: 104,490,685 (GRCm39) |
S80T |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,804,120 (GRCm39) |
I457V |
possibly damaging |
Het |
| Wdr64 |
G |
T |
1: 175,553,979 (GRCm39) |
D170Y |
probably 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 |
|
|
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 |
|
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'- AGAGCGGCTTCTGTTTACTTTC -3'
(R):5'- GACGATGTCATACATGTGCAGG -3'
Sequencing Primer
(F):5'- GATCGAGTTTTTCCTGCTCCGG -3'
(R):5'- GGCAGCCAGGACGTCCTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation