Incidental Mutation 'R3862:Zc3h12a'
| ID |
276389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h12a
|
| Ensembl Gene |
ENSMUSG00000042677 |
| Gene Name |
zinc finger CCCH type containing 12A |
| Synonyms |
Mcpip1 |
| MMRRC Submission |
040903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.762)
|
| Stock # |
R3862 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
125012216-125021633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125020732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 37
(D37G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036188]
|
| AlphaFold |
Q5D1E7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036188
AA Change: D37G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037172
Gene: ENSMUSG00000042677
AA Change: D37G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_Zc3h12a
|
134 |
290 |
3.2e-66 |
PFAM |
|
low complexity region
|
354 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
487 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
508 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
544 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131685
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit splenomegaly, lymphadenopathy, hyperimmunoglobulinemia, increased auto-antibodies, and defective IL6 post-transcriptional regulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc2 |
G |
A |
10: 80,143,393 (GRCm39) |
G498R |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 36,939,547 (GRCm39) |
F134I |
possibly damaging |
Het |
| Bub1 |
A |
G |
2: 127,656,676 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
C |
T |
6: 18,434,905 (GRCm39) |
V318M |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,044,522 (GRCm39) |
I825M |
possibly damaging |
Het |
| Enpp6 |
A |
G |
8: 47,519,027 (GRCm39) |
Q265R |
probably benign |
Het |
| Eri1 |
A |
G |
8: 35,958,448 (GRCm39) |
V61A |
possibly damaging |
Het |
| Evi2 |
T |
A |
11: 79,406,472 (GRCm39) |
I368F |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fkbp9 |
A |
G |
6: 56,845,890 (GRCm39) |
T409A |
probably benign |
Het |
| Gtpbp4 |
A |
G |
13: 9,040,834 (GRCm39) |
V97A |
probably damaging |
Het |
| Hapln1 |
C |
T |
13: 89,753,418 (GRCm39) |
Q195* |
probably null |
Het |
| Helt |
G |
T |
8: 46,745,315 (GRCm39) |
N189K |
probably benign |
Het |
| Hint2 |
A |
G |
4: 43,654,771 (GRCm39) |
V91A |
probably damaging |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,266 (GRCm39) |
I67T |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,146,323 (GRCm39) |
E1803G |
probably benign |
Het |
| Lrrd1 |
G |
A |
5: 3,901,248 (GRCm39) |
V518I |
probably benign |
Het |
| Marchf11 |
C |
T |
15: 26,387,952 (GRCm39) |
A269V |
probably damaging |
Het |
| Mep1b |
A |
G |
18: 21,217,226 (GRCm39) |
N115S |
possibly damaging |
Het |
| Naif1 |
A |
G |
2: 32,342,637 (GRCm39) |
R63G |
probably damaging |
Het |
| Nsmaf |
A |
G |
4: 6,435,064 (GRCm39) |
I126T |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or52h7 |
G |
A |
7: 104,214,145 (GRCm39) |
R239H |
probably benign |
Het |
| Or8g53 |
T |
A |
9: 39,683,920 (GRCm39) |
M59L |
probably benign |
Het |
| Pcdhb3 |
A |
G |
18: 37,436,329 (GRCm39) |
E765G |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,562,680 (GRCm39) |
R550* |
probably null |
Het |
| Scgb2b3 |
C |
T |
7: 31,061,430 (GRCm39) |
|
probably null |
Het |
| Sgcz |
T |
C |
8: 37,990,565 (GRCm39) |
I263V |
probably benign |
Het |
| Slc15a1 |
C |
T |
14: 121,722,269 (GRCm39) |
V211I |
probably benign |
Het |
| Slc25a21 |
G |
T |
12: 56,764,920 (GRCm39) |
|
probably benign |
Het |
| Snrnp200 |
C |
A |
2: 127,075,019 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
T |
C |
1: 28,816,722 (GRCm39) |
T437A |
probably damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,092,329 (GRCm39) |
Q479K |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,826,838 (GRCm39) |
V935D |
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,162,313 (GRCm39) |
C115Y |
probably damaging |
Het |
| Zfand4 |
A |
T |
6: 116,270,776 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zc3h12a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01928:Zc3h12a
|
APN |
4 |
125,013,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02419:Zc3h12a
|
APN |
4 |
125,013,581 (GRCm39) |
missense |
probably benign |
|
|
IGL03085:Zc3h12a
|
APN |
4 |
125,020,813 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03181:Zc3h12a
|
APN |
4 |
125,013,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I1329:Zc3h12a
|
UTSW |
4 |
125,013,157 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
P0022:Zc3h12a
|
UTSW |
4 |
125,013,202 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2084:Zc3h12a
|
UTSW |
4 |
125,013,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2149:Zc3h12a
|
UTSW |
4 |
125,020,435 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2404:Zc3h12a
|
UTSW |
4 |
125,013,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3891:Zc3h12a
|
UTSW |
4 |
125,020,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Zc3h12a
|
UTSW |
4 |
125,014,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Zc3h12a
|
UTSW |
4 |
125,020,706 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5283:Zc3h12a
|
UTSW |
4 |
125,020,558 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5570:Zc3h12a
|
UTSW |
4 |
125,014,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7972:Zc3h12a
|
UTSW |
4 |
125,013,728 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8311:Zc3h12a
|
UTSW |
4 |
125,020,788 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8516:Zc3h12a
|
UTSW |
4 |
125,013,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8872:Zc3h12a
|
UTSW |
4 |
125,020,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8989:Zc3h12a
|
UTSW |
4 |
125,014,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9428:Zc3h12a
|
UTSW |
4 |
125,020,558 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9641:Zc3h12a
|
UTSW |
4 |
125,014,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Zc3h12a
|
UTSW |
4 |
125,020,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTAGCTGAGCCATGCTTC -3'
(R):5'- ATAGCGTCTTCTCAGTTCGTG -3'
Sequencing Primer
(F):5'- GAGCCATGCTTCACCAATTC -3'
(R):5'- AGAGACCTATATTGGGCATTGC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation