Incidental Mutation 'R1258:Zmat3'
| ID |
151515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmat3
|
| Ensembl Gene |
ENSMUSG00000027663 |
| Gene Name |
zinc finger matrin type 3 |
| Synonyms |
Wig1 |
| MMRRC Submission |
039325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R1258 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32388941-32419814 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32397820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 147
(N147K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029199]
[ENSMUST00000168566]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029199
AA Change: N147K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029199
Gene: ENSMUSG00000027663
AA Change: N147K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_U1
|
67 |
101 |
1.03e-10 |
SMART |
|
ZnF_C2H2
|
70 |
94 |
9.46e0 |
SMART |
|
ZnF_U1
|
145 |
179 |
1.11e-10 |
SMART |
|
ZnF_C2H2
|
148 |
172 |
5.54e1 |
SMART |
|
ZnF_U1
|
243 |
277 |
7.72e-10 |
SMART |
|
ZnF_C2H2
|
246 |
270 |
6.92e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168566
AA Change: N147K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131317
Gene: ENSMUSG00000027663
AA Change: N147K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_U1
|
67 |
101 |
1.03e-10 |
SMART |
|
ZnF_C2H2
|
70 |
94 |
9.46e0 |
SMART |
|
ZnF_U1
|
145 |
179 |
1.11e-10 |
SMART |
|
ZnF_C2H2
|
148 |
172 |
5.54e1 |
SMART |
|
ZnF_U1
|
243 |
277 |
7.72e-10 |
SMART |
|
ZnF_C2H2
|
246 |
270 |
6.92e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
C |
7: 133,539,176 (GRCm39) |
E112G |
probably damaging |
Het |
| Ccar2 |
T |
C |
14: 70,390,122 (GRCm39) |
N17D |
probably benign |
Het |
| Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
| Igsf9 |
G |
A |
1: 172,319,722 (GRCm39) |
R339H |
probably benign |
Het |
| Inpp5a |
G |
T |
7: 139,105,660 (GRCm39) |
G212C |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,723,464 (GRCm39) |
E1133G |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,618,587 (GRCm39) |
I126L |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,689,446 (GRCm39) |
V184A |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,017,280 (GRCm39) |
A216V |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| St8sia6 |
T |
C |
2: 13,661,695 (GRCm39) |
M379V |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,154,225 (GRCm39) |
L2144H |
probably damaging |
Het |
| Ypel1 |
A |
T |
16: 16,923,917 (GRCm39) |
L44H |
probably damaging |
Het |
| Ythdf1 |
C |
A |
2: 180,553,103 (GRCm39) |
A371S |
probably benign |
Het |
| Zdhhc16 |
G |
A |
19: 41,926,483 (GRCm39) |
V89M |
possibly damaging |
Het |
| Zfp37 |
A |
T |
4: 62,110,054 (GRCm39) |
Y375N |
probably damaging |
Het |
|
| Other mutations in Zmat3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01524:Zmat3
|
APN |
3 |
32,395,827 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01687:Zmat3
|
APN |
3 |
32,395,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02251:Zmat3
|
APN |
3 |
32,399,732 (GRCm39) |
splice site |
probably benign |
|
|
IGL03110:Zmat3
|
APN |
3 |
32,399,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0585:Zmat3
|
UTSW |
3 |
32,415,254 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1916:Zmat3
|
UTSW |
3 |
32,397,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1968:Zmat3
|
UTSW |
3 |
32,415,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4805:Zmat3
|
UTSW |
3 |
32,397,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4906:Zmat3
|
UTSW |
3 |
32,397,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:Zmat3
|
UTSW |
3 |
32,395,770 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6844:Zmat3
|
UTSW |
3 |
32,395,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7998:Zmat3
|
UTSW |
3 |
32,395,815 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8316:Zmat3
|
UTSW |
3 |
32,395,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9154:Zmat3
|
UTSW |
3 |
32,397,767 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCCTCAGAGGCAATGGCAATAC -3'
(R):5'- ACACAGTGGTGCTCAGTAAGGTAGG -3'
Sequencing Primer
(F):5'- TACCTACGAGAATGAGTGACTCTG -3'
(R):5'- ACACAGTAGGTGCTCATTGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation