Incidental Mutation 'IGL01928:Zc3h12a'
| ID |
180348 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zc3h12a
|
| Ensembl Gene |
ENSMUSG00000042677 |
| Gene Name |
zinc finger CCCH type containing 12A |
| Synonyms |
Mcpip1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.806)
|
| Stock # |
IGL01928
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
125012216-125021633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125013779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 362
(S362P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036188]
|
| AlphaFold |
Q5D1E7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036188
AA Change: S362P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037172
Gene: ENSMUSG00000042677
AA Change: S362P
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,633,342 (GRCm39) |
T5024S |
probably benign |
Het |
| Adam23 |
C |
A |
1: 63,596,605 (GRCm39) |
N562K |
probably damaging |
Het |
| Brd9 |
G |
A |
13: 74,103,630 (GRCm39) |
M503I |
probably benign |
Het |
| Cyp2j8 |
A |
T |
4: 96,358,713 (GRCm39) |
|
probably benign |
Het |
| Erich6 |
T |
C |
3: 58,528,692 (GRCm39) |
I519M |
probably damaging |
Het |
| Fscn3 |
A |
G |
6: 28,430,181 (GRCm39) |
E117G |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm45234 |
A |
G |
6: 124,721,967 (GRCm39) |
|
probably benign |
Het |
| Ighv1-47 |
T |
A |
12: 114,954,913 (GRCm39) |
M56L |
probably benign |
Het |
| Klf4 |
A |
G |
4: 55,530,949 (GRCm39) |
L45P |
probably benign |
Het |
| Ksr1 |
A |
C |
11: 78,935,665 (GRCm39) |
|
probably null |
Het |
| L3mbtl3 |
T |
C |
10: 26,206,143 (GRCm39) |
N341S |
unknown |
Het |
| Mfsd12 |
T |
C |
10: 81,201,622 (GRCm39) |
|
probably benign |
Het |
| Nlrp9c |
A |
T |
7: 26,074,847 (GRCm39) |
|
probably benign |
Het |
| Ntrk2 |
T |
A |
13: 58,994,665 (GRCm39) |
C194S |
probably damaging |
Het |
| Olfm4 |
G |
A |
14: 80,249,392 (GRCm39) |
V170I |
possibly damaging |
Het |
| Onecut1 |
C |
A |
9: 74,796,815 (GRCm39) |
Q445K |
possibly damaging |
Het |
| Or8g22 |
A |
C |
9: 38,958,709 (GRCm39) |
D46E |
unknown |
Het |
| Pak6 |
A |
G |
2: 118,520,345 (GRCm39) |
Q112R |
probably damaging |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
C |
T |
3: 79,011,270 (GRCm39) |
E124K |
probably damaging |
Het |
| Snx14 |
T |
C |
9: 88,263,565 (GRCm39) |
T893A |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
T |
C |
3: 99,847,390 (GRCm39) |
|
probably benign |
Het |
| Tgds |
T |
C |
14: 118,353,541 (GRCm39) |
T259A |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfyve16 |
A |
G |
13: 92,641,006 (GRCm39) |
I1246T |
probably damaging |
Het |
|
| Other mutations in Zc3h12a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3862:Zc3h12a
|
UTSW |
4 |
125,020,732 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation