Incidental Mutation 'R8384:Zcchc17'
| ID |
647069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc17
|
| Ensembl Gene |
ENSMUSG00000028772 |
| Gene Name |
zinc finger, CCHC domain containing 17 |
| Synonyms |
Ps1d, 2810055E05Rik, HSPC251 |
| MMRRC Submission |
067750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.788)
|
| Stock # |
R8384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
130209176-130253736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130210526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 214
(K214E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070532]
[ENSMUST00000134159]
|
| AlphaFold |
Q9ESX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070532
|
| SMART Domains |
Protein: ENSMUSP00000070709
Gene: ENSMUSG00000028773
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin_7
|
3 |
133 |
3.2e-13 |
PFAM |
|
Pfam:Lipocalin
|
6 |
132 |
4.5e-32 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134159
AA Change: K214E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772
AA Change: K214E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,057,591 (GRCm39) |
D736G |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Col6a6 |
C |
T |
9: 105,632,893 (GRCm39) |
G1457D |
probably damaging |
Het |
| Colec11 |
A |
T |
12: 28,644,658 (GRCm39) |
*279R |
probably null |
Het |
| Ctnnbl1 |
A |
T |
2: 157,659,980 (GRCm39) |
E278V |
probably benign |
Het |
| Cyp24a1 |
A |
G |
2: 170,328,689 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
A |
T |
5: 27,923,472 (GRCm39) |
Y694F |
probably benign |
Het |
| Eif5 |
A |
G |
12: 111,506,239 (GRCm39) |
E26G |
possibly damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,362,306 (GRCm39) |
I305V |
possibly damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,842,967 (GRCm39) |
F347S |
possibly damaging |
Het |
| Hacl1 |
A |
G |
14: 31,356,154 (GRCm39) |
|
probably null |
Het |
| Hells |
A |
G |
19: 38,947,566 (GRCm39) |
T667A |
probably benign |
Het |
| Idua |
A |
G |
5: 108,829,305 (GRCm39) |
T416A |
possibly damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lnx2 |
G |
A |
5: 146,966,138 (GRCm39) |
A327V |
probably benign |
Het |
| Macir |
A |
G |
1: 97,573,655 (GRCm39) |
C137R |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,765,680 (GRCm39) |
V5220A |
probably benign |
Het |
| Mpst |
T |
A |
15: 78,297,775 (GRCm39) |
C264* |
probably null |
Het |
| Msh5 |
A |
G |
17: 35,249,613 (GRCm39) |
L644P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,875,273 (GRCm39) |
Y1533C |
probably damaging |
Het |
| Naa38 |
A |
G |
11: 69,286,752 (GRCm39) |
E12G |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,975,935 (GRCm39) |
C2064F |
probably damaging |
Het |
| Or5p51 |
A |
T |
7: 107,444,465 (GRCm39) |
N158K |
possibly damaging |
Het |
| Or6c6 |
A |
T |
10: 129,186,695 (GRCm39) |
K88* |
probably null |
Het |
| Pam16l |
A |
T |
10: 43,400,347 (GRCm39) |
I34F |
probably damaging |
Het |
| Ralgds |
G |
T |
2: 28,437,182 (GRCm39) |
A534S |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,046,158 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
T |
C |
1: 107,199,697 (GRCm39) |
T275A |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,823,984 (GRCm39) |
V251A |
probably damaging |
Het |
| Snx14 |
C |
A |
9: 88,285,333 (GRCm39) |
E444* |
probably null |
Het |
| Sspo |
G |
T |
6: 48,459,598 (GRCm39) |
W3319L |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,287,924 (GRCm39) |
V81A |
probably benign |
Het |
| Usp6nl |
A |
G |
2: 6,432,604 (GRCm39) |
I326V |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,956,747 (GRCm39) |
H1785N |
probably benign |
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 |
|
|
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 |
|
|
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'- AAGCCATCTGAGACCATGGG -3'
(R):5'- AGTCCTGCCTGACCTTCAAC -3'
Sequencing Primer
(F):5'- TGGGGACAAGTCTGGGTAG -3'
(R):5'- TCCCACCGCTGCAATTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation