Incidental Mutation 'R0105:Zcchc17'
ID |
17687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zcchc17
|
Ensembl Gene |
ENSMUSG00000028772 |
Gene Name |
zinc finger, CCHC domain containing 17 |
Synonyms |
Ps1d, 2810055E05Rik, HSPC251 |
MMRRC Submission |
038391-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.793)
|
Stock # |
R0105 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
130209176-130253736 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 130243099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 28
(D28V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120807
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134159]
|
AlphaFold |
Q9ESX4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000134159
AA Change: D28V
PolyPhen 2
Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000120807 Gene: ENSMUSG00000028772 AA Change: D28V
Domain | Start | End | E-Value | Type |
S1
|
14 |
86 |
4.47e-11 |
SMART |
ZnF_C2HC
|
132 |
148 |
4.56e-1 |
SMART |
low complexity region
|
160 |
171 |
N/A |
INTRINSIC |
low complexity region
|
182 |
211 |
N/A |
INTRINSIC |
low complexity region
|
227 |
240 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167964
|
Meta Mutation Damage Score |
0.2863 |
Coding Region Coverage |
- 1x: 85.3%
- 3x: 77.7%
- 10x: 47.9%
- 20x: 15.1%
|
Validation Efficiency |
96% (53/55) |
MGI Phenotype |
PHENOTYPE: Specific KO of the short isoform reduces osteogenic differentiation of mesenchymal stem cells and results in early cellular senescence in the embryonic notochord and forelimb bones. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
Adcy9 |
A |
G |
16: 4,106,252 (GRCm39) |
V954A |
probably damaging |
Het |
Aldh8a1 |
T |
A |
10: 21,271,438 (GRCm39) |
M388K |
probably damaging |
Het |
Cdsn |
A |
C |
17: 35,867,035 (GRCm39) |
R521S |
possibly damaging |
Het |
Cog3 |
A |
G |
14: 75,959,580 (GRCm39) |
S591P |
probably damaging |
Het |
Cplane1 |
T |
A |
15: 8,216,876 (GRCm39) |
V698D |
probably benign |
Het |
Crmp1 |
T |
A |
5: 37,441,479 (GRCm39) |
D520E |
probably damaging |
Het |
Ddhd1 |
T |
C |
14: 45,848,147 (GRCm39) |
D507G |
probably benign |
Het |
Dnah6 |
C |
T |
6: 73,132,262 (GRCm39) |
A1147T |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,735,111 (GRCm39) |
S1030P |
probably benign |
Het |
Fam20b |
T |
C |
1: 156,518,140 (GRCm39) |
E218G |
probably damaging |
Het |
Gab2 |
T |
C |
7: 96,948,279 (GRCm39) |
Y290H |
probably damaging |
Het |
Gm973 |
A |
G |
1: 59,621,633 (GRCm39) |
Q591R |
probably null |
Het |
Gsdmc2 |
T |
C |
15: 63,700,026 (GRCm39) |
T249A |
probably benign |
Het |
Il15ra |
T |
A |
2: 11,735,459 (GRCm39) |
|
probably null |
Het |
Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
Krt76 |
T |
C |
15: 101,793,347 (GRCm39) |
T564A |
unknown |
Het |
Lrrk1 |
G |
T |
7: 65,942,089 (GRCm39) |
D716E |
probably damaging |
Het |
Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,568,467 (GRCm39) |
T48A |
possibly damaging |
Het |
Or4a71 |
T |
C |
2: 89,358,707 (GRCm39) |
T16A |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,593,956 (GRCm39) |
Q1386* |
probably null |
Het |
Pla2r1 |
T |
C |
2: 60,345,325 (GRCm39) |
R344G |
possibly damaging |
Het |
Plekhg4 |
G |
A |
8: 106,108,644 (GRCm39) |
V1202M |
possibly damaging |
Het |
Ppil4 |
A |
G |
10: 7,674,210 (GRCm39) |
Y118C |
probably damaging |
Het |
Ptpn4 |
C |
T |
1: 119,615,335 (GRCm39) |
|
probably null |
Het |
Reln |
G |
A |
5: 22,253,813 (GRCm39) |
R600W |
probably damaging |
Het |
Sumf2 |
T |
A |
5: 129,878,735 (GRCm39) |
|
probably benign |
Het |
Tex10 |
C |
A |
4: 48,468,957 (GRCm39) |
V73F |
probably damaging |
Het |
Tgm5 |
C |
A |
2: 120,907,493 (GRCm39) |
G77W |
probably damaging |
Het |
Tnfrsf21 |
T |
A |
17: 43,351,082 (GRCm39) |
|
probably null |
Het |
Treml2 |
C |
T |
17: 48,609,856 (GRCm39) |
T96I |
probably damaging |
Het |
Zkscan6 |
T |
A |
11: 65,712,811 (GRCm39) |
L248Q |
probably damaging |
Het |
|
Other mutations in Zcchc17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01462:Zcchc17
|
APN |
4 |
130,230,902 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02086:Zcchc17
|
APN |
4 |
130,210,440 (GRCm39) |
makesense |
probably null |
|
IGL02277:Zcchc17
|
APN |
4 |
130,221,014 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02395:Zcchc17
|
APN |
4 |
130,230,920 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02407:Zcchc17
|
APN |
4 |
130,243,108 (GRCm39) |
missense |
probably benign |
|
R0105:Zcchc17
|
UTSW |
4 |
130,243,099 (GRCm39) |
missense |
probably benign |
0.36 |
R0245:Zcchc17
|
UTSW |
4 |
130,230,947 (GRCm39) |
missense |
probably benign |
|
R1026:Zcchc17
|
UTSW |
4 |
130,223,403 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1764:Zcchc17
|
UTSW |
4 |
130,223,388 (GRCm39) |
missense |
probably damaging |
0.97 |
R2162:Zcchc17
|
UTSW |
4 |
130,232,317 (GRCm39) |
missense |
probably benign |
0.04 |
R2389:Zcchc17
|
UTSW |
4 |
130,220,997 (GRCm39) |
nonsense |
probably null |
|
R3831:Zcchc17
|
UTSW |
4 |
130,232,317 (GRCm39) |
missense |
probably benign |
0.04 |
R4078:Zcchc17
|
UTSW |
4 |
130,223,418 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5553:Zcchc17
|
UTSW |
4 |
130,247,927 (GRCm39) |
critical splice donor site |
probably null |
|
R7233:Zcchc17
|
UTSW |
4 |
130,221,116 (GRCm39) |
missense |
probably damaging |
0.98 |
R7728:Zcchc17
|
UTSW |
4 |
130,230,812 (GRCm39) |
splice site |
probably null |
|
R8384:Zcchc17
|
UTSW |
4 |
130,210,526 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9227:Zcchc17
|
UTSW |
4 |
130,230,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R9343:Zcchc17
|
UTSW |
4 |
130,210,546 (GRCm39) |
missense |
probably damaging |
0.99 |
R9514:Zcchc17
|
UTSW |
4 |
130,232,337 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-01-31 |