Incidental Mutation 'R1353:Zcchc4'
| ID |
157089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc4
|
| Ensembl Gene |
ENSMUSG00000029179 |
| Gene Name |
zinc finger, CCHC domain containing 4 |
| Synonyms |
4930449I23Rik |
| MMRRC Submission |
039418-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R1353 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
52932751-52982007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52964419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 292
(I292V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031077]
[ENSMUST00000113904]
|
| AlphaFold |
Q8BKW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031077
AA Change: I292V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000031077
Gene: ENSMUSG00000029179
AA Change: I292V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-GRF
|
37 |
81 |
2.9e-19 |
PFAM |
|
Pfam:N6-adenineMlase
|
168 |
337 |
5.1e-11 |
PFAM |
|
ZnF_C2HC
|
442 |
458 |
1.27e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113901
|
| SMART Domains |
Protein: ENSMUSP00000109534
Gene: ENSMUSG00000029179
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2HC
|
226 |
242 |
1.27e-2 |
SMART |
|
low complexity region
|
248 |
266 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113904
AA Change: I292V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000109537
Gene: ENSMUSG00000029179
AA Change: I292V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-GRF
|
37 |
81 |
2.4e-17 |
PFAM |
|
Pfam:N6-adenineMlase
|
168 |
338 |
7.1e-11 |
PFAM |
|
ZnF_C2HC
|
442 |
458 |
1.27e-2 |
SMART |
|
low complexity region
|
464 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149612
|
| Meta Mutation Damage Score |
0.0687 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 94.1%
- 20x: 86.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Astn2 |
T |
C |
4: 66,184,572 (GRCm39) |
Q175R |
unknown |
Het |
| Capn9 |
A |
C |
8: 125,332,305 (GRCm39) |
|
probably null |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,839,556 (GRCm39) |
N1364S |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,178,033 (GRCm39) |
V3607E |
probably damaging |
Het |
| Crb2 |
T |
C |
2: 37,677,293 (GRCm39) |
C262R |
probably damaging |
Het |
| Cyp2t4 |
A |
G |
7: 26,856,055 (GRCm39) |
N204S |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,338,771 (GRCm39) |
T676A |
probably damaging |
Het |
| Fancm |
G |
A |
12: 65,134,944 (GRCm39) |
V246M |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,355,669 (GRCm39) |
S461P |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,293,220 (GRCm39) |
L394Q |
probably benign |
Het |
| Hsdl2 |
G |
T |
4: 59,596,971 (GRCm39) |
|
probably null |
Het |
| Klri2 |
C |
T |
6: 129,716,049 (GRCm39) |
G97S |
probably damaging |
Het |
| Lypla2 |
T |
C |
4: 135,697,778 (GRCm39) |
I55V |
probably null |
Het |
| Malrd1 |
A |
G |
2: 16,132,779 (GRCm39) |
D1900G |
unknown |
Het |
| Map1b |
A |
G |
13: 99,563,834 (GRCm39) |
S2378P |
unknown |
Het |
| Marchf3 |
A |
T |
18: 56,909,177 (GRCm39) |
|
probably null |
Het |
| Myom2 |
G |
T |
8: 15,156,424 (GRCm39) |
W757L |
probably damaging |
Het |
| Nat10 |
T |
A |
2: 103,584,418 (GRCm39) |
M120L |
possibly damaging |
Het |
| Ncam2 |
T |
G |
16: 80,997,803 (GRCm39) |
M1R |
probably null |
Het |
| Ncoa4 |
G |
T |
14: 31,892,815 (GRCm39) |
G33* |
probably null |
Het |
| Or1j1 |
C |
A |
2: 36,702,926 (GRCm39) |
M59I |
possibly damaging |
Het |
| Or1x2 |
G |
A |
11: 50,917,833 (GRCm39) |
M1I |
probably null |
Het |
| Or2a20 |
T |
A |
6: 43,194,624 (GRCm39) |
M259K |
probably benign |
Het |
| Or4p21 |
T |
C |
2: 88,276,895 (GRCm39) |
H129R |
probably benign |
Het |
| Or6c38 |
C |
T |
10: 128,929,733 (GRCm39) |
V37I |
probably benign |
Het |
| Or8b41 |
A |
C |
9: 38,055,024 (GRCm39) |
I198L |
probably benign |
Het |
| Osbpl8 |
A |
G |
10: 111,112,340 (GRCm39) |
N485S |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,703,119 (GRCm39) |
V939E |
probably damaging |
Het |
| Plaa |
T |
C |
4: 94,459,926 (GRCm39) |
E607G |
possibly damaging |
Het |
| Rtel1 |
T |
A |
2: 180,991,024 (GRCm39) |
C285S |
probably benign |
Het |
| Rtl1 |
A |
C |
12: 109,558,633 (GRCm39) |
C1069G |
probably benign |
Het |
| Rtn4 |
C |
A |
11: 29,657,595 (GRCm39) |
A583E |
probably damaging |
Het |
| Runx1 |
T |
A |
16: 92,485,939 (GRCm39) |
R32* |
probably null |
Het |
| Sdcbp |
A |
G |
4: 6,381,057 (GRCm39) |
I67M |
probably damaging |
Het |
| Slc22a12 |
G |
C |
19: 6,587,812 (GRCm39) |
L259V |
possibly damaging |
Het |
| Sptlc2 |
A |
G |
12: 87,388,520 (GRCm39) |
S321P |
probably damaging |
Het |
| Tmem30c |
C |
T |
16: 57,098,028 (GRCm39) |
G131D |
probably damaging |
Het |
| Tnfaip2 |
A |
T |
12: 111,411,403 (GRCm39) |
Q9L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,576,910 (GRCm39) |
Y24661C |
probably damaging |
Het |
| Vmn2r77 |
T |
G |
7: 86,451,394 (GRCm39) |
F427V |
probably benign |
Het |
| Zfp354b |
A |
T |
11: 50,814,240 (GRCm39) |
H228Q |
probably damaging |
Het |
| Zfp84 |
T |
A |
7: 29,475,600 (GRCm39) |
N97K |
probably benign |
Het |
| Zfp976 |
T |
C |
7: 42,265,442 (GRCm39) |
D49G |
probably damaging |
Het |
| Zgrf1 |
C |
T |
3: 127,405,452 (GRCm39) |
T1550I |
probably damaging |
Het |
|
| Other mutations in Zcchc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Zcchc4
|
APN |
5 |
52,973,511 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00953:Zcchc4
|
APN |
5 |
52,965,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01860:Zcchc4
|
APN |
5 |
52,965,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02248:Zcchc4
|
APN |
5 |
52,953,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02536:Zcchc4
|
APN |
5 |
52,965,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Zcchc4
|
UTSW |
5 |
52,964,420 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0060:Zcchc4
|
UTSW |
5 |
52,964,420 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0573:Zcchc4
|
UTSW |
5 |
52,953,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0634:Zcchc4
|
UTSW |
5 |
52,940,550 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1791:Zcchc4
|
UTSW |
5 |
52,953,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Zcchc4
|
UTSW |
5 |
52,973,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Zcchc4
|
UTSW |
5 |
52,953,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2696:Zcchc4
|
UTSW |
5 |
52,953,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2991:Zcchc4
|
UTSW |
5 |
52,961,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3894:Zcchc4
|
UTSW |
5 |
52,941,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4523:Zcchc4
|
UTSW |
5 |
52,941,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Zcchc4
|
UTSW |
5 |
52,953,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4772:Zcchc4
|
UTSW |
5 |
52,953,549 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4905:Zcchc4
|
UTSW |
5 |
52,953,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Zcchc4
|
UTSW |
5 |
52,976,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Zcchc4
|
UTSW |
5 |
52,953,952 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5371:Zcchc4
|
UTSW |
5 |
52,942,512 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5401:Zcchc4
|
UTSW |
5 |
52,964,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5755:Zcchc4
|
UTSW |
5 |
52,973,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6110:Zcchc4
|
UTSW |
5 |
52,953,486 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6244:Zcchc4
|
UTSW |
5 |
52,940,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6465:Zcchc4
|
UTSW |
5 |
52,976,618 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6906:Zcchc4
|
UTSW |
5 |
52,980,976 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7019:Zcchc4
|
UTSW |
5 |
52,941,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7363:Zcchc4
|
UTSW |
5 |
52,942,510 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7643:Zcchc4
|
UTSW |
5 |
52,965,635 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8097:Zcchc4
|
UTSW |
5 |
52,953,333 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8158:Zcchc4
|
UTSW |
5 |
52,973,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8372:Zcchc4
|
UTSW |
5 |
52,953,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8545:Zcchc4
|
UTSW |
5 |
52,976,741 (GRCm39) |
intron |
probably benign |
|
|
R8755:Zcchc4
|
UTSW |
5 |
52,976,724 (GRCm39) |
missense |
unknown |
|
|
R9414:Zcchc4
|
UTSW |
5 |
52,953,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9530:Zcchc4
|
UTSW |
5 |
52,953,568 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTGCTTATCAAGGAACCCGAAG -3'
(R):5'- TTTACAGAGAGCCCAGAGCTGCAC -3'
Sequencing Primer
(F):5'- ACGTTTTCCAGTGAGACCAG -3'
(R):5'- GCACACTCCGTAACTGCTAGG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation