Incidental Mutation 'R3894:Zcchc4'
ID |
310441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zcchc4
|
Ensembl Gene |
ENSMUSG00000029179 |
Gene Name |
zinc finger, CCHC domain containing 4 |
Synonyms |
4930449I23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.168)
|
Stock # |
R3894 (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 T
at 52941442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 79
(D79V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109537
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031077]
[ENSMUST00000113904]
|
AlphaFold |
Q8BKW4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031077
AA Change: D79V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031077 Gene: ENSMUSG00000029179 AA Change: D79V
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 damaging
Transcript: ENSMUST00000113904
AA Change: D79V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109537 Gene: ENSMUSG00000029179 AA Change: D79V
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: ENSMUST00000157074
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198465
|
Predicted Effect |
unknown
Transcript: ENSMUST00000199840
AA Change: D70V
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt1s1 |
A |
G |
7: 44,503,363 (GRCm39) |
D180G |
probably damaging |
Het |
Aldh1a7 |
A |
T |
19: 20,673,762 (GRCm39) |
Y457* |
probably null |
Het |
Alpk3 |
C |
T |
7: 80,728,138 (GRCm39) |
P423S |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,373,837 (GRCm39) |
|
probably null |
Het |
Crebbp |
T |
C |
16: 3,913,966 (GRCm39) |
T1316A |
probably benign |
Het |
Cul3 |
C |
A |
1: 80,261,407 (GRCm39) |
V273F |
probably damaging |
Het |
Dnah1 |
G |
T |
14: 31,028,985 (GRCm39) |
R582S |
probably benign |
Het |
Fbxl2 |
T |
C |
9: 113,832,261 (GRCm39) |
N51S |
probably damaging |
Het |
Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
Gdf7 |
A |
G |
12: 8,348,845 (GRCm39) |
S151P |
unknown |
Het |
Gm10277 |
T |
C |
11: 77,676,827 (GRCm39) |
|
probably benign |
Het |
Hdac4 |
T |
C |
1: 91,898,690 (GRCm39) |
E688G |
possibly damaging |
Het |
Htr1d |
A |
G |
4: 136,170,548 (GRCm39) |
E259G |
probably benign |
Het |
Ifi204 |
T |
C |
1: 173,576,774 (GRCm39) |
H609R |
possibly damaging |
Het |
Ift80 |
T |
C |
3: 68,825,332 (GRCm39) |
D541G |
probably damaging |
Het |
Il18r1 |
A |
T |
1: 40,514,034 (GRCm39) |
H80L |
possibly damaging |
Het |
Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
Mesd |
T |
A |
7: 83,546,993 (GRCm39) |
L152H |
probably damaging |
Het |
Mmut |
G |
A |
17: 41,266,030 (GRCm39) |
C531Y |
probably damaging |
Het |
Morf4l1 |
A |
T |
9: 89,976,501 (GRCm39) |
F276I |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,395,145 (GRCm39) |
T2480A |
probably benign |
Het |
Or2a52 |
A |
T |
6: 43,144,192 (GRCm39) |
I67F |
probably benign |
Het |
Or2y15 |
G |
A |
11: 49,350,766 (GRCm39) |
G87R |
possibly damaging |
Het |
Or4f47 |
T |
C |
2: 111,972,359 (GRCm39) |
I23T |
probably benign |
Het |
Or4g17 |
C |
A |
2: 111,209,982 (GRCm39) |
F212L |
probably benign |
Het |
Or5k16 |
A |
G |
16: 58,736,702 (GRCm39) |
F101L |
probably benign |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
Pcbp4 |
A |
T |
9: 106,338,570 (GRCm39) |
Q59L |
possibly damaging |
Het |
Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
Rad50 |
T |
A |
11: 53,569,697 (GRCm39) |
I905L |
probably benign |
Het |
Rp1l1 |
T |
C |
14: 64,266,756 (GRCm39) |
S781P |
probably benign |
Het |
Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
Rtn3 |
T |
A |
19: 7,412,450 (GRCm39) |
T86S |
probably damaging |
Het |
Sdha |
A |
T |
13: 74,482,510 (GRCm39) |
S268T |
probably benign |
Het |
Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
Sh3glb2 |
T |
C |
2: 30,245,300 (GRCm39) |
T60A |
probably damaging |
Het |
Slc26a3 |
A |
C |
12: 31,514,719 (GRCm39) |
Y513S |
probably damaging |
Het |
Slc35b2 |
T |
C |
17: 45,877,368 (GRCm39) |
V165A |
probably benign |
Het |
Slco3a1 |
A |
G |
7: 73,934,361 (GRCm39) |
W604R |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,175,238 (GRCm39) |
S1370P |
possibly damaging |
Het |
Tmtc4 |
A |
T |
14: 123,158,731 (GRCm39) |
|
probably null |
Het |
Tsga13 |
A |
G |
6: 30,889,198 (GRCm39) |
V18A |
probably benign |
Het |
Ugt2a3 |
T |
C |
5: 87,477,449 (GRCm39) |
T317A |
probably benign |
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 |
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 |
|
Posted On |
2015-04-17 |