Incidental Mutation 'R2303:Zcchc8'
ID |
244490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zcchc8
|
Ensembl Gene |
ENSMUSG00000029427 |
Gene Name |
zinc finger, CCHC domain containing 8 |
Synonyms |
5730565F05Rik |
MMRRC Submission |
040302-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.327)
|
Stock # |
R2303 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
123836365-123859107 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123838660 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 626
(L626P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031376]
[ENSMUST00000196282]
|
AlphaFold |
Q9CYA6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031376
AA Change: L626P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000031376 Gene: ENSMUSG00000029427 AA Change: L626P
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
coiled coil region
|
48 |
83 |
N/A |
INTRINSIC |
ZnF_C2HC
|
231 |
247 |
4.13e-3 |
SMART |
PSP
|
286 |
338 |
3.04e-27 |
SMART |
low complexity region
|
410 |
434 |
N/A |
INTRINSIC |
low complexity region
|
464 |
500 |
N/A |
INTRINSIC |
low complexity region
|
520 |
527 |
N/A |
INTRINSIC |
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196042
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196282
AA Change: L626P
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000142363 Gene: ENSMUSG00000029427 AA Change: L626P
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
coiled coil region
|
48 |
83 |
N/A |
INTRINSIC |
ZnF_C2HC
|
231 |
247 |
4.13e-3 |
SMART |
PSP
|
286 |
338 |
3.04e-27 |
SMART |
low complexity region
|
410 |
434 |
N/A |
INTRINSIC |
low complexity region
|
464 |
500 |
N/A |
INTRINSIC |
low complexity region
|
520 |
527 |
N/A |
INTRINSIC |
low complexity region
|
613 |
625 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198826
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199875
|
Meta Mutation Damage Score |
0.0754 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
All alleles(12) : Gene trapped(12) |
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930583I09Rik |
T |
G |
17: 65,141,561 (GRCm39) |
D14A |
unknown |
Het |
Aars1 |
C |
A |
8: 111,779,134 (GRCm39) |
T756K |
possibly damaging |
Het |
Abca9 |
A |
T |
11: 110,049,052 (GRCm39) |
M252K |
probably benign |
Het |
Acan |
A |
G |
7: 78,749,705 (GRCm39) |
E1492G |
probably benign |
Het |
Arid1a |
C |
A |
4: 133,414,562 (GRCm39) |
R1223L |
unknown |
Het |
Ash1l |
T |
C |
3: 88,933,733 (GRCm39) |
L2003S |
probably damaging |
Het |
Cct8 |
A |
T |
16: 87,287,220 (GRCm39) |
|
probably null |
Het |
Dagla |
T |
C |
19: 10,229,467 (GRCm39) |
T598A |
probably damaging |
Het |
Ercc3 |
A |
G |
18: 32,378,600 (GRCm39) |
I194V |
probably benign |
Het |
Fbxo46 |
A |
G |
7: 18,870,541 (GRCm39) |
N387D |
possibly damaging |
Het |
Fn1 |
C |
T |
1: 71,653,195 (GRCm39) |
|
probably null |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gnrhr |
C |
T |
5: 86,345,608 (GRCm39) |
G26D |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,579,977 (GRCm39) |
L1920Q |
probably damaging |
Het |
Kank2 |
T |
A |
9: 21,681,061 (GRCm39) |
I823F |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
Mfsd6 |
T |
A |
1: 52,715,672 (GRCm39) |
N535I |
probably damaging |
Het |
Mgat5 |
T |
C |
1: 127,374,036 (GRCm39) |
Y479H |
probably benign |
Het |
Ncoa7 |
G |
A |
10: 30,530,431 (GRCm39) |
T701I |
probably damaging |
Het |
Or6c2 |
T |
C |
10: 129,362,918 (GRCm39) |
V274A |
probably benign |
Het |
Pcdh18 |
T |
C |
3: 49,709,723 (GRCm39) |
R531G |
probably damaging |
Het |
Pcdhb6 |
A |
G |
18: 37,469,284 (GRCm39) |
H51R |
probably damaging |
Het |
Pdik1l |
G |
A |
4: 134,011,559 (GRCm39) |
Q95* |
probably null |
Het |
Ppp4r3b |
A |
T |
11: 29,150,741 (GRCm39) |
H469L |
possibly damaging |
Het |
Prnp |
A |
G |
2: 131,779,046 (GRCm39) |
T233A |
probably benign |
Het |
Rcan1 |
T |
C |
16: 92,190,484 (GRCm39) |
T152A |
possibly damaging |
Het |
Sema3g |
T |
C |
14: 30,944,572 (GRCm39) |
F329L |
probably damaging |
Het |
Setd1a |
G |
A |
7: 127,398,327 (GRCm39) |
|
probably benign |
Het |
Slc40a1 |
G |
A |
1: 45,950,044 (GRCm39) |
|
probably benign |
Het |
Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
Spg11 |
C |
T |
2: 121,899,318 (GRCm39) |
C1589Y |
probably damaging |
Het |
Stab1 |
T |
C |
14: 30,868,027 (GRCm39) |
T1616A |
probably damaging |
Het |
Trappc11 |
A |
G |
8: 47,956,451 (GRCm39) |
Y842H |
probably damaging |
Het |
Vwde |
T |
A |
6: 13,215,806 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,462,120 (GRCm39) |
H1240R |
probably damaging |
Het |
|
Other mutations in Zcchc8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01341:Zcchc8
|
APN |
5 |
123,842,632 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01536:Zcchc8
|
APN |
5 |
123,858,782 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02083:Zcchc8
|
APN |
5 |
123,838,981 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02838:Zcchc8
|
APN |
5 |
123,857,546 (GRCm39) |
splice site |
probably benign |
|
3-1:Zcchc8
|
UTSW |
5 |
123,847,544 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4515001:Zcchc8
|
UTSW |
5 |
123,838,995 (GRCm39) |
missense |
probably benign |
0.23 |
R0127:Zcchc8
|
UTSW |
5 |
123,845,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R1134:Zcchc8
|
UTSW |
5 |
123,855,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R1604:Zcchc8
|
UTSW |
5 |
123,838,721 (GRCm39) |
missense |
probably benign |
0.00 |
R1744:Zcchc8
|
UTSW |
5 |
123,838,436 (GRCm39) |
nonsense |
probably null |
|
R2216:Zcchc8
|
UTSW |
5 |
123,845,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2877:Zcchc8
|
UTSW |
5 |
123,838,766 (GRCm39) |
missense |
probably benign |
0.05 |
R2964:Zcchc8
|
UTSW |
5 |
123,858,930 (GRCm39) |
missense |
probably benign |
0.00 |
R2966:Zcchc8
|
UTSW |
5 |
123,858,930 (GRCm39) |
missense |
probably benign |
0.00 |
R6831:Zcchc8
|
UTSW |
5 |
123,838,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R7908:Zcchc8
|
UTSW |
5 |
123,858,783 (GRCm39) |
critical splice donor site |
probably benign |
|
R8738:Zcchc8
|
UTSW |
5 |
123,841,070 (GRCm39) |
missense |
probably damaging |
0.99 |
R8791:Zcchc8
|
UTSW |
5 |
123,845,362 (GRCm39) |
missense |
probably benign |
0.06 |
R9487:Zcchc8
|
UTSW |
5 |
123,847,300 (GRCm39) |
missense |
probably damaging |
0.99 |
R9495:Zcchc8
|
UTSW |
5 |
123,838,633 (GRCm39) |
missense |
probably benign |
0.00 |
R9508:Zcchc8
|
UTSW |
5 |
123,842,584 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCAGTGGATTCAGCCATG -3'
(R):5'- TTAACTGGGAACTCAGTGGCC -3'
Sequencing Primer
(F):5'- CAGCCATGTTCTCAAATTCAAAGGG -3'
(R):5'- CCGTGTCCAAACGAGTTTG -3'
|
Posted On |
2014-10-30 |