Incidental Mutation 'R8545:Zcchc4'
| ID |
659579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zcchc4
|
| Ensembl Gene |
ENSMUSG00000029179 |
| Gene Name |
zinc finger, CCHC domain containing 4 |
| Synonyms |
4930449I23Rik |
| MMRRC Submission |
068510-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R8545 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
52932751-52982007 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 52976741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031077]
[ENSMUST00000113904]
|
| AlphaFold |
Q8BKW4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000031077
AA Change: V512M
|
| SMART Domains |
Protein: ENSMUSP00000031077
Gene: ENSMUSG00000029179
AA Change: V512M
| 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 |
probably benign
Transcript: ENSMUST00000113904
|
| SMART Domains |
Protein: ENSMUSP00000109537
Gene: ENSMUSG00000029179
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,236,794 (GRCm39) |
Y1779C |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,450,084 (GRCm39) |
N2293D |
possibly damaging |
Het |
| Arhgap30 |
T |
C |
1: 171,234,998 (GRCm39) |
L488P |
probably damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,423,408 (GRCm39) |
Q886L |
probably damaging |
Het |
| Arhgef10 |
T |
G |
8: 14,978,868 (GRCm39) |
V45G |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 15,025,931 (GRCm39) |
T812A |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,813,352 (GRCm39) |
S246G |
probably benign |
Het |
| Cby3 |
T |
C |
11: 50,250,243 (GRCm39) |
S150P |
probably benign |
Het |
| Cdc40 |
A |
G |
10: 40,723,939 (GRCm39) |
V283A |
probably benign |
Het |
| Cox15 |
A |
T |
19: 43,728,421 (GRCm39) |
V284E |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,290,227 (GRCm39) |
H260L |
probably benign |
Het |
| Dph6 |
G |
A |
2: 114,478,248 (GRCm39) |
A31V |
probably damaging |
Het |
| Dsc2 |
G |
A |
18: 20,167,722 (GRCm39) |
Q123* |
probably null |
Het |
| Eftud2 |
A |
G |
11: 102,731,097 (GRCm39) |
F810S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,467,996 (GRCm39) |
|
probably benign |
Het |
| Gm49368 |
T |
C |
7: 127,679,433 (GRCm39) |
Y192H |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,279,257 (GRCm39) |
L55* |
probably null |
Het |
| Hgsnat |
T |
C |
8: 26,445,707 (GRCm39) |
T396A |
probably benign |
Het |
| Il17rd |
T |
G |
14: 26,813,886 (GRCm39) |
F55C |
probably damaging |
Het |
| Mad1l1 |
A |
C |
5: 140,286,249 (GRCm39) |
M250R |
probably benign |
Het |
| Muc15 |
A |
T |
2: 110,561,581 (GRCm39) |
K6* |
probably null |
Het |
| Muc2 |
A |
G |
7: 141,306,130 (GRCm39) |
N273S |
unknown |
Het |
| Myh1 |
T |
A |
11: 67,093,027 (GRCm39) |
Y78N |
probably benign |
Het |
| Pcdh20 |
T |
A |
14: 88,706,601 (GRCm39) |
H233L |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,602,856 (GRCm39) |
A373T |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,863,391 (GRCm39) |
M778K |
possibly damaging |
Het |
| Pigg |
A |
T |
5: 108,489,726 (GRCm39) |
D644V |
probably damaging |
Het |
| Rnf148 |
A |
T |
6: 23,654,570 (GRCm39) |
I142N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,704,239 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tapbp |
A |
G |
17: 34,139,291 (GRCm39) |
M87V |
possibly damaging |
Het |
| Tbccd1 |
T |
C |
16: 22,652,779 (GRCm39) |
Y114C |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,648,718 (GRCm39) |
W1905R |
probably damaging |
Het |
| Tmem109 |
G |
A |
19: 10,851,734 (GRCm39) |
R37* |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,800,258 (GRCm39) |
Y1802C |
probably benign |
Het |
| Zbtb17 |
CCCCCACCTCCACAGACCCCA |
CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA |
4: 141,194,139 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
T |
C |
7: 127,484,662 (GRCm39) |
S1772P |
probably benign |
Het |
| Zfp820 |
A |
G |
17: 22,038,438 (GRCm39) |
C297R |
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 |
|
R1353:Zcchc4
|
UTSW |
5 |
52,964,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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'- ATTGTCCCAACATCGGCACC -3'
(R):5'- AAACGGCATGCTCCTTCCAC -3'
Sequencing Primer
(F):5'- CACCTCTTGGAGAGCTAACAAGTTAG -3'
(R):5'- ACCAGGAATGCCTTCGCTATC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation