Incidental Mutation 'R1151:Zc3h6'
ID |
101598 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zc3h6
|
Ensembl Gene |
ENSMUSG00000042851 |
Gene Name |
zinc finger CCCH type containing 6 |
Synonyms |
|
MMRRC Submission |
039224-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
R1151 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
128967402-129018563 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 129017136 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1029
(P1029L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105949
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110320]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000110320
AA Change: P1029L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105949 Gene: ENSMUSG00000042851 AA Change: P1029L
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
coiled coil region
|
30 |
71 |
N/A |
INTRINSIC |
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
low complexity region
|
177 |
192 |
N/A |
INTRINSIC |
ZnF_C3H1
|
271 |
296 |
1.72e-4 |
SMART |
ZnF_C3H1
|
300 |
325 |
2.51e-6 |
SMART |
ZnF_C3H1
|
326 |
349 |
5.24e0 |
SMART |
coiled coil region
|
351 |
383 |
N/A |
INTRINSIC |
low complexity region
|
385 |
400 |
N/A |
INTRINSIC |
low complexity region
|
493 |
509 |
N/A |
INTRINSIC |
low complexity region
|
698 |
707 |
N/A |
INTRINSIC |
low complexity region
|
784 |
798 |
N/A |
INTRINSIC |
low complexity region
|
815 |
829 |
N/A |
INTRINSIC |
low complexity region
|
876 |
890 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135186
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 96.0%
- 20x: 91.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 6 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
GCC |
GC |
13: 59,691,598 |
|
probably null |
Het |
Arhgap28 |
C |
A |
17: 67,857,464 |
Q554H |
probably damaging |
Het |
Clcc1 |
C |
A |
3: 108,668,043 |
F145L |
probably damaging |
Het |
F5 |
G |
C |
1: 164,198,917 |
R1686P |
probably damaging |
Het |
Prps1 |
T |
G |
X: 140,468,907 |
S160A |
probably benign |
Het |
Triobp |
G |
A |
15: 78,966,479 |
A278T |
probably benign |
Het |
|
Other mutations in Zc3h6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01732:Zc3h6
|
APN |
2 |
129011875 |
missense |
probably damaging |
1.00 |
IGL01880:Zc3h6
|
APN |
2 |
129017378 |
missense |
probably damaging |
0.99 |
IGL02160:Zc3h6
|
APN |
2 |
128997685 |
missense |
probably benign |
0.02 |
IGL02161:Zc3h6
|
APN |
2 |
128993226 |
missense |
possibly damaging |
0.90 |
IGL02202:Zc3h6
|
APN |
2 |
129016581 |
missense |
probably damaging |
1.00 |
IGL02547:Zc3h6
|
APN |
2 |
129015611 |
missense |
probably benign |
0.00 |
IGL02973:Zc3h6
|
APN |
2 |
128997795 |
missense |
probably damaging |
0.98 |
BB001:Zc3h6
|
UTSW |
2 |
129015480 |
missense |
possibly damaging |
0.52 |
BB011:Zc3h6
|
UTSW |
2 |
129015480 |
missense |
possibly damaging |
0.52 |
R0336:Zc3h6
|
UTSW |
2 |
129015412 |
missense |
possibly damaging |
0.81 |
R0420:Zc3h6
|
UTSW |
2 |
129014827 |
missense |
probably benign |
0.00 |
R0538:Zc3h6
|
UTSW |
2 |
129017223 |
missense |
possibly damaging |
0.75 |
R0944:Zc3h6
|
UTSW |
2 |
129006816 |
missense |
probably damaging |
1.00 |
R1528:Zc3h6
|
UTSW |
2 |
129017069 |
missense |
probably benign |
0.01 |
R1698:Zc3h6
|
UTSW |
2 |
129017358 |
missense |
probably benign |
|
R1712:Zc3h6
|
UTSW |
2 |
129016734 |
missense |
probably damaging |
1.00 |
R1913:Zc3h6
|
UTSW |
2 |
129016620 |
missense |
probably damaging |
1.00 |
R1926:Zc3h6
|
UTSW |
2 |
128997795 |
missense |
probably damaging |
0.98 |
R2030:Zc3h6
|
UTSW |
2 |
129006086 |
missense |
probably damaging |
1.00 |
R2051:Zc3h6
|
UTSW |
2 |
129015618 |
missense |
possibly damaging |
0.55 |
R2133:Zc3h6
|
UTSW |
2 |
128967830 |
missense |
possibly damaging |
0.53 |
R2273:Zc3h6
|
UTSW |
2 |
129014709 |
missense |
probably benign |
0.01 |
R2328:Zc3h6
|
UTSW |
2 |
128993202 |
missense |
possibly damaging |
0.85 |
R2862:Zc3h6
|
UTSW |
2 |
129015460 |
missense |
probably benign |
0.43 |
R2899:Zc3h6
|
UTSW |
2 |
129002232 |
missense |
probably benign |
0.00 |
R3711:Zc3h6
|
UTSW |
2 |
129017331 |
missense |
probably benign |
0.00 |
R3743:Zc3h6
|
UTSW |
2 |
128997792 |
missense |
probably damaging |
1.00 |
R3893:Zc3h6
|
UTSW |
2 |
129016140 |
missense |
probably damaging |
1.00 |
R4748:Zc3h6
|
UTSW |
2 |
129002240 |
missense |
probably damaging |
1.00 |
R5025:Zc3h6
|
UTSW |
2 |
129010433 |
missense |
possibly damaging |
0.87 |
R5026:Zc3h6
|
UTSW |
2 |
129017309 |
missense |
probably benign |
0.00 |
R5125:Zc3h6
|
UTSW |
2 |
129014479 |
missense |
possibly damaging |
0.93 |
R5373:Zc3h6
|
UTSW |
2 |
129002156 |
missense |
possibly damaging |
0.75 |
R5374:Zc3h6
|
UTSW |
2 |
129002156 |
missense |
possibly damaging |
0.75 |
R5703:Zc3h6
|
UTSW |
2 |
128993452 |
intron |
probably benign |
|
R5802:Zc3h6
|
UTSW |
2 |
129015559 |
missense |
possibly damaging |
0.56 |
R5876:Zc3h6
|
UTSW |
2 |
128993277 |
missense |
probably benign |
0.29 |
R5879:Zc3h6
|
UTSW |
2 |
128997776 |
splice site |
probably null |
|
R5950:Zc3h6
|
UTSW |
2 |
128997790 |
nonsense |
probably null |
|
R6031:Zc3h6
|
UTSW |
2 |
128967812 |
missense |
possibly damaging |
0.85 |
R6031:Zc3h6
|
UTSW |
2 |
128967812 |
missense |
possibly damaging |
0.85 |
R6781:Zc3h6
|
UTSW |
2 |
129015421 |
missense |
probably damaging |
0.99 |
R7323:Zc3h6
|
UTSW |
2 |
128993411 |
missense |
unknown |
|
R7340:Zc3h6
|
UTSW |
2 |
128993190 |
missense |
possibly damaging |
0.90 |
R7572:Zc3h6
|
UTSW |
2 |
129017252 |
missense |
probably benign |
0.02 |
R7576:Zc3h6
|
UTSW |
2 |
129014553 |
missense |
probably damaging |
1.00 |
R7797:Zc3h6
|
UTSW |
2 |
129015635 |
critical splice donor site |
probably null |
|
R7924:Zc3h6
|
UTSW |
2 |
129015480 |
missense |
possibly damaging |
0.52 |
R8048:Zc3h6
|
UTSW |
2 |
129017014 |
missense |
probably benign |
0.30 |
R8877:Zc3h6
|
UTSW |
2 |
129014399 |
nonsense |
probably null |
|
R9076:Zc3h6
|
UTSW |
2 |
129017176 |
nonsense |
probably null |
|
R9577:Zc3h6
|
UTSW |
2 |
129016182 |
missense |
|
|
R9687:Zc3h6
|
UTSW |
2 |
129017361 |
missense |
probably damaging |
1.00 |
R9745:Zc3h6
|
UTSW |
2 |
129017235 |
missense |
probably benign |
0.08 |
Z1176:Zc3h6
|
UTSW |
2 |
129016221 |
missense |
probably benign |
0.01 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |