Incidental Mutation 'IGL02277:Zcchc17'
| ID |
287356 |
| 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 # |
IGL02277
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
130209176-130253736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 130221014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 179
(T179M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134159]
|
| AlphaFold |
Q9ESX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134159
AA Change: T179M
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772
AA Change: T179M
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
T |
9: 57,165,708 (GRCm39) |
G222D |
probably benign |
Het |
| Abcc6 |
T |
C |
7: 45,650,485 (GRCm39) |
D625G |
probably benign |
Het |
| Akr1c12 |
C |
T |
13: 4,322,268 (GRCm39) |
R258Q |
probably damaging |
Het |
| Akr1c20 |
T |
A |
13: 4,564,404 (GRCm39) |
E36D |
probably benign |
Het |
| Csn2 |
A |
G |
5: 87,845,881 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,497,176 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,609,082 (GRCm39) |
I259V |
probably damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,946,125 (GRCm39) |
I344V |
probably damaging |
Het |
| Fcrl6 |
A |
G |
1: 172,426,686 (GRCm39) |
C87R |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,735,977 (GRCm39) |
E524G |
probably benign |
Het |
| Gabpb2 |
A |
G |
3: 95,096,595 (GRCm39) |
V270A |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,218,462 (GRCm39) |
I804F |
possibly damaging |
Het |
| Gm5591 |
T |
C |
7: 38,219,856 (GRCm39) |
D339G |
probably damaging |
Het |
| Ighv2-5 |
T |
A |
12: 113,649,127 (GRCm39) |
T109S |
possibly damaging |
Het |
| Ints4 |
T |
A |
7: 97,136,665 (GRCm39) |
L119Q |
probably damaging |
Het |
| Kansl3 |
A |
T |
1: 36,388,028 (GRCm39) |
D386E |
possibly damaging |
Het |
| Kdm3b |
A |
T |
18: 34,956,717 (GRCm39) |
H1224L |
probably damaging |
Het |
| Macf1 |
C |
A |
4: 123,380,497 (GRCm39) |
R1523L |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,798,835 (GRCm39) |
|
probably null |
Het |
| Nup188 |
A |
G |
2: 30,216,523 (GRCm39) |
T776A |
possibly damaging |
Het |
| Or1q1 |
G |
A |
2: 36,887,196 (GRCm39) |
|
probably null |
Het |
| Or2y8 |
T |
A |
11: 52,036,189 (GRCm39) |
H56L |
probably damaging |
Het |
| Or4f56 |
T |
A |
2: 111,703,925 (GRCm39) |
I92F |
possibly damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,941,201 (GRCm39) |
L1660Q |
probably damaging |
Het |
| Ppp1r17 |
A |
G |
6: 56,003,123 (GRCm39) |
D71G |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,389,301 (GRCm39) |
Q1264R |
probably damaging |
Het |
| Rgl3 |
C |
T |
9: 21,885,405 (GRCm39) |
V642M |
probably damaging |
Het |
| Slc26a2 |
T |
C |
18: 61,332,052 (GRCm39) |
T460A |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,282,199 (GRCm39) |
M395L |
probably damaging |
Het |
| St3gal5 |
A |
T |
6: 72,119,184 (GRCm39) |
T99S |
possibly damaging |
Het |
| Unc5b |
T |
C |
10: 60,610,521 (GRCm39) |
N421S |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,432,746 (GRCm39) |
S79P |
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 |
|
|
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 |
|
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