Incidental Mutation 'R1026:Zcchc17'
| ID |
94961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc17
|
| Ensembl Gene |
ENSMUSG00000028772 |
| Gene Name |
zinc finger, CCHC domain containing 17 |
| Synonyms |
Ps1d, 2810055E05Rik, HSPC251 |
| MMRRC Submission |
039128-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.788)
|
| Stock # |
R1026 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
130209176-130253736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130223403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 128
(V128I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134159]
|
| AlphaFold |
Q9ESX4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134159
AA Change: V128I
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772
AA Change: V128I
| 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 |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.3%
|
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,367,217 (GRCm39) |
C919R |
probably damaging |
Het |
| Cgnl1 |
A |
G |
9: 71,624,713 (GRCm39) |
S620P |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,765,997 (GRCm39) |
T756A |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,818,805 (GRCm39) |
I4846T |
possibly damaging |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,921,062 (GRCm39) |
K52R |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
| Or14a258 |
T |
A |
7: 86,035,467 (GRCm39) |
M134L |
probably damaging |
Het |
| Or8k21 |
T |
C |
2: 86,145,558 (GRCm39) |
Q24R |
possibly damaging |
Het |
| Plekhf1 |
C |
A |
7: 37,921,065 (GRCm39) |
A168S |
probably benign |
Het |
| Ppp1r12a |
A |
G |
10: 108,087,720 (GRCm39) |
T58A |
probably benign |
Het |
| Prss23 |
T |
A |
7: 89,159,166 (GRCm39) |
Y301F |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,124,742 (GRCm39) |
Y343C |
probably damaging |
Het |
| Zfp960 |
T |
A |
17: 17,308,518 (GRCm39) |
C411S |
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 |
|
R0105:Zcchc17
|
UTSW |
4 |
130,243,099 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0245:Zcchc17
|
UTSW |
4 |
130,230,947 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCAATAAGGGAAGCCAGGTTG -3'
(R):5'- AGGAGCTGCTCCATTGTTTCGC -3'
Sequencing Primer
(F):5'- GATCCGTAAGGAACGCATTTC -3'
(R):5'- CATTGTTTCGCTCACCACG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation