Incidental Mutation 'IGL02395:Zcchc17'
| ID |
294298 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zcchc17
|
| Ensembl Gene |
ENSMUSG00000028772 |
| Gene Name |
zinc finger, CCHC domain containing 17 |
| Synonyms |
Ps1d, 2810055E05Rik, HSPC251 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.788)
|
| Stock # |
IGL02395
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
130209176-130253736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 130230920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 90
(V90F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134159]
|
| AlphaFold |
Q9ESX4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129840
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134159
AA Change: V90F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772
AA Change: V90F
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,617,496 (GRCm39) |
C540S |
probably damaging |
Het |
| Cdk5 |
A |
G |
5: 24,624,635 (GRCm39) |
V252A |
possibly damaging |
Het |
| Ddi2 |
C |
T |
4: 141,422,725 (GRCm39) |
R329Q |
possibly damaging |
Het |
| Dennd2c |
T |
A |
3: 103,065,081 (GRCm39) |
F678I |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,204,255 (GRCm39) |
D18G |
probably damaging |
Het |
| Efcab11 |
C |
A |
12: 99,820,868 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,387,033 (GRCm39) |
E162G |
probably damaging |
Het |
| Fam120b |
T |
C |
17: 15,622,777 (GRCm39) |
S252P |
probably damaging |
Het |
| Filip1 |
G |
A |
9: 79,805,692 (GRCm39) |
P21S |
probably benign |
Het |
| Kmt5b |
T |
A |
19: 3,864,887 (GRCm39) |
D627E |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,385,833 (GRCm39) |
D254G |
probably benign |
Het |
| Man1a2 |
T |
C |
3: 100,551,853 (GRCm39) |
|
probably null |
Het |
| Mapk15 |
T |
C |
15: 75,870,019 (GRCm39) |
S380P |
probably benign |
Het |
| Mrpl48 |
G |
T |
7: 100,195,551 (GRCm39) |
|
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,862,078 (GRCm39) |
I184L |
possibly damaging |
Het |
| Nrk |
A |
G |
X: 137,876,935 (GRCm39) |
E712G |
probably damaging |
Het |
| Or4c110 |
T |
A |
2: 88,832,507 (GRCm39) |
T42S |
probably benign |
Het |
| Or4k6 |
C |
A |
14: 50,475,886 (GRCm39) |
G152V |
probably damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,426 (GRCm39) |
T81A |
possibly damaging |
Het |
| Or6z6 |
C |
T |
7: 6,491,802 (GRCm39) |
V17M |
possibly damaging |
Het |
| Plekho1 |
A |
T |
3: 95,902,876 (GRCm39) |
Y36* |
probably null |
Het |
| Slco1a5 |
T |
A |
6: 142,221,213 (GRCm39) |
H11L |
probably damaging |
Het |
| Tiam2 |
T |
A |
17: 3,471,756 (GRCm39) |
M466K |
possibly damaging |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Tnfrsf22 |
A |
T |
7: 143,197,053 (GRCm39) |
N95K |
probably damaging |
Het |
| Vmn1r90 |
T |
C |
7: 14,295,822 (GRCm39) |
Y92C |
probably damaging |
Het |
| Zc2hc1a |
T |
A |
3: 7,593,684 (GRCm39) |
L214* |
probably null |
Het |
| Zcchc7 |
T |
C |
4: 44,761,868 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
T |
C |
14: 25,657,187 (GRCm39) |
V821A |
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 |
|
IGL02407:Zcchc17
|
APN |
4 |
130,243,108 (GRCm39) |
missense |
probably benign |
|
|
R0105:Zcchc17
|
UTSW |
4 |
130,243,099 (GRCm39) |
missense |
probably benign |
0.36 |
|
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 |
2015-04-16 |
Incidental Mutation