Incidental Mutation 'R0035:Zc3h12c'
| ID |
15309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h12c
|
| Ensembl Gene |
ENSMUSG00000035164 |
| Gene Name |
zinc finger CCCH type containing 12C |
| Synonyms |
C230027N18Rik |
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
52022644-52079872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52055047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 235
(M235K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165519]
[ENSMUST00000213645]
|
| AlphaFold |
Q5DTV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165519
AA Change: M254K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127603
Gene: ENSMUSG00000035164
AA Change: M254K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
121 |
N/A |
INTRINSIC |
|
Pfam:RNase_Zc3h12a
|
264 |
420 |
1.6e-67 |
PFAM |
|
low complexity region
|
644 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
758 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213645
AA Change: M235K
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 61.5%
- 10x: 31.6%
- 20x: 15.2%
|
| Validation Efficiency |
94% (51/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
| Clic5 |
A |
G |
17: 44,586,200 (GRCm39) |
T230A |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
| Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
| Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
| Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,149 (GRCm39) |
K169Q |
probably benign |
Het |
|
| Other mutations in Zc3h12c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Zc3h12c
|
APN |
9 |
52,027,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01288:Zc3h12c
|
APN |
9 |
52,028,951 (GRCm39) |
splice site |
probably benign |
|
|
IGL01993:Zc3h12c
|
APN |
9 |
52,027,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0035:Zc3h12c
|
UTSW |
9 |
52,055,047 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0131:Zc3h12c
|
UTSW |
9 |
52,037,923 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0240:Zc3h12c
|
UTSW |
9 |
52,055,383 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0240:Zc3h12c
|
UTSW |
9 |
52,055,383 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1762:Zc3h12c
|
UTSW |
9 |
52,027,081 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2101:Zc3h12c
|
UTSW |
9 |
52,027,721 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3052:Zc3h12c
|
UTSW |
9 |
52,055,356 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3689:Zc3h12c
|
UTSW |
9 |
52,027,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4163:Zc3h12c
|
UTSW |
9 |
52,026,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4230:Zc3h12c
|
UTSW |
9 |
52,055,728 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4803:Zc3h12c
|
UTSW |
9 |
52,027,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5008:Zc3h12c
|
UTSW |
9 |
52,028,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5153:Zc3h12c
|
UTSW |
9 |
52,037,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Zc3h12c
|
UTSW |
9 |
52,037,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5843:Zc3h12c
|
UTSW |
9 |
52,027,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6613:Zc3h12c
|
UTSW |
9 |
52,027,412 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7097:Zc3h12c
|
UTSW |
9 |
52,027,226 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7460:Zc3h12c
|
UTSW |
9 |
52,055,402 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7867:Zc3h12c
|
UTSW |
9 |
52,055,248 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8711:Zc3h12c
|
UTSW |
9 |
52,037,858 (GRCm39) |
splice site |
probably benign |
|
|
R9170:Zc3h12c
|
UTSW |
9 |
52,027,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9345:Zc3h12c
|
UTSW |
9 |
52,028,010 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9748:Zc3h12c
|
UTSW |
9 |
52,055,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-17 |
Incidental Mutation