Incidental Mutation 'R6906:Zcchc4'
ID |
538773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zcchc4
|
Ensembl Gene |
ENSMUSG00000029179 |
Gene Name |
zinc finger, CCHC domain containing 4 |
Synonyms |
4930449I23Rik |
MMRRC Submission |
044998-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.168)
|
Stock # |
R6906 (G1)
|
Quality Score |
140.008 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
52932751-52982007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 52980976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 473
(K473E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109537
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031077]
[ENSMUST00000113904]
|
AlphaFold |
Q8BKW4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031077
|
SMART Domains |
Protein: ENSMUSP00000031077 Gene: ENSMUSG00000029179
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 |
possibly damaging
Transcript: ENSMUST00000113904
AA Change: K473E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109537 Gene: ENSMUSG00000029179 AA Change: K473E
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 |
|
Meta Mutation Damage Score |
0.0732 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
Validation Efficiency |
98% (45/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf2 |
A |
G |
5: 24,773,840 (GRCm39) |
F350L |
possibly damaging |
Het |
Ahnak2 |
T |
A |
12: 112,748,933 (GRCm39) |
T305S |
probably benign |
Het |
Anp32a |
A |
G |
9: 62,284,851 (GRCm39) |
|
probably benign |
Het |
Aplf |
A |
G |
6: 87,607,068 (GRCm39) |
S449P |
possibly damaging |
Het |
Arl6ip4 |
A |
G |
5: 124,254,614 (GRCm39) |
R36G |
possibly damaging |
Het |
Ascc1 |
G |
A |
10: 59,840,674 (GRCm39) |
D12N |
probably benign |
Het |
Bin1 |
C |
A |
18: 32,554,978 (GRCm39) |
H243Q |
probably benign |
Het |
Ccdc168 |
C |
T |
1: 44,095,173 (GRCm39) |
S1975N |
probably benign |
Het |
Ccdc7a |
C |
A |
8: 129,662,162 (GRCm39) |
V547L |
unknown |
Het |
Cntnap5c |
T |
A |
17: 58,702,302 (GRCm39) |
N1207K |
probably benign |
Het |
Coro7 |
C |
A |
16: 4,451,168 (GRCm39) |
R507L |
probably benign |
Het |
Crtap |
T |
A |
9: 114,210,700 (GRCm39) |
K291N |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,710,569 (GRCm39) |
T1569A |
probably benign |
Het |
Dmrta1 |
A |
G |
4: 89,580,203 (GRCm39) |
T388A |
probably benign |
Het |
Ehd3 |
T |
C |
17: 74,137,333 (GRCm39) |
F501L |
probably damaging |
Het |
Fbn2 |
A |
C |
18: 58,204,891 (GRCm39) |
L1184R |
possibly damaging |
Het |
Fhip1b |
G |
A |
7: 105,037,476 (GRCm39) |
T369I |
probably damaging |
Het |
Hsf1 |
T |
C |
15: 76,361,919 (GRCm39) |
|
probably null |
Het |
Hycc1 |
A |
T |
5: 24,204,956 (GRCm39) |
W12R |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,762,437 (GRCm39) |
H810R |
possibly damaging |
Het |
Lrp5 |
A |
T |
19: 3,672,638 (GRCm39) |
I557N |
probably damaging |
Het |
Lypd1 |
T |
C |
1: 125,838,196 (GRCm39) |
E41G |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,724,853 (GRCm39) |
Y443C |
probably damaging |
Het |
Muc2 |
A |
G |
7: 141,284,976 (GRCm39) |
D871G |
probably damaging |
Het |
Nup85 |
T |
A |
11: 115,471,769 (GRCm39) |
Y198N |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,923,744 (GRCm39) |
M6578L |
possibly damaging |
Het |
Or8h7 |
T |
C |
2: 86,721,091 (GRCm39) |
T143A |
probably benign |
Het |
Osbpl5 |
G |
C |
7: 143,248,065 (GRCm39) |
Q667E |
probably damaging |
Het |
Ovgp1 |
T |
A |
3: 105,894,189 (GRCm39) |
|
probably benign |
Het |
Prl8a2 |
T |
A |
13: 27,532,900 (GRCm39) |
N37K |
probably benign |
Het |
Ptprf |
A |
T |
4: 118,126,474 (GRCm39) |
I93N |
possibly damaging |
Het |
Rnf112 |
T |
C |
11: 61,341,215 (GRCm39) |
S457G |
probably null |
Het |
Sema3e |
A |
G |
5: 14,290,601 (GRCm39) |
D562G |
probably damaging |
Het |
Sesn3 |
A |
G |
9: 14,236,937 (GRCm39) |
M472V |
probably damaging |
Het |
Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
Shc3 |
T |
C |
13: 51,620,595 (GRCm39) |
T144A |
probably damaging |
Het |
Sis |
A |
G |
3: 72,826,818 (GRCm39) |
L1287P |
probably damaging |
Het |
Srrm2 |
C |
T |
17: 24,039,337 (GRCm39) |
P2090S |
probably damaging |
Het |
Syne2 |
T |
G |
12: 76,042,760 (GRCm39) |
D3910E |
possibly damaging |
Het |
Tcaim |
C |
T |
9: 122,663,839 (GRCm39) |
T443I |
probably benign |
Het |
Tex19.1 |
T |
C |
11: 121,037,948 (GRCm39) |
V102A |
probably benign |
Het |
Tpd52l1 |
T |
G |
10: 31,208,950 (GRCm39) |
T168P |
possibly damaging |
Het |
Trdn |
G |
A |
10: 33,109,944 (GRCm39) |
C294Y |
probably benign |
Het |
Trmt1l |
T |
C |
1: 151,327,926 (GRCm39) |
Y479H |
probably benign |
Het |
Vmn1r171 |
G |
A |
7: 23,331,804 (GRCm39) |
V10I |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,351,128 (GRCm39) |
D80E |
possibly 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 |
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'- TGTGTGATCAGGCCCATCTC -3'
(R):5'- TTTAAGTCCATGTGGCACGC -3'
Sequencing Primer
(F):5'- TTCCTTGTTGTCATGGTTAGGACAC -3'
(R):5'- CACGCGGAGAAAATGGCATC -3'
|
Posted On |
2018-11-06 |