Incidental Mutation 'IGL02547:Zc3h6'
| ID |
297893 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zc3h6
|
| Ensembl Gene |
ENSMUSG00000042851 |
| Gene Name |
zinc finger CCCH type containing 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
IGL02547
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
128967402-129018563 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129015611 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 683
(H683Q)
|
| 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: H683Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000105949
Gene: ENSMUSG00000042851
AA Change: H683Q
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430403G16Rik |
C |
T |
5: 109,678,762 (GRCm38) |
|
probably null |
Het |
| Akap6 |
T |
A |
12: 53,140,696 (GRCm38) |
L1631H |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,603,276 (GRCm38) |
|
probably benign |
Het |
| Atp5o |
A |
T |
16: 91,928,961 (GRCm38) |
Y48N |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,579,645 (GRCm38) |
M656R |
probably benign |
Het |
| Camkk1 |
A |
G |
11: 73,038,433 (GRCm38) |
R455G |
probably benign |
Het |
| Casr |
A |
T |
16: 36,515,674 (GRCm38) |
M91K |
probably benign |
Het |
| Ccdc28a |
A |
T |
10: 18,214,146 (GRCm38) |
V124D |
possibly damaging |
Het |
| Ccnh |
T |
C |
13: 85,202,504 (GRCm38) |
|
probably benign |
Het |
| Cdc37 |
G |
T |
9: 21,139,966 (GRCm38) |
|
probably benign |
Het |
| Cdon |
A |
G |
9: 35,478,654 (GRCm38) |
D868G |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,700,255 (GRCm38) |
R351G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,469,023 (GRCm38) |
I545T |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,737,479 (GRCm38) |
M798V |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,665,435 (GRCm38) |
Q200L |
probably damaging |
Het |
| Gm15448 |
T |
C |
7: 3,821,661 (GRCm38) |
D573G |
probably damaging |
Het |
| Gm4758 |
A |
T |
16: 36,312,526 (GRCm38) |
|
probably benign |
Het |
| Gm6614 |
A |
T |
6: 141,990,390 (GRCm38) |
L323Q |
probably damaging |
Het |
| Ica1 |
T |
C |
6: 8,670,691 (GRCm38) |
|
probably null |
Het |
| Idh3a |
T |
A |
9: 54,592,395 (GRCm38) |
V31D |
probably benign |
Het |
| Il3ra |
A |
T |
14: 14,351,970 (GRCm38) |
T247S |
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,218,510 (GRCm38) |
C497R |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,906,461 (GRCm38) |
Y166H |
probably damaging |
Het |
| Mphosph8 |
A |
G |
14: 56,672,484 (GRCm38) |
D98G |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,064,125 (GRCm38) |
I207F |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,731,305 (GRCm38) |
R29G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,188,730 (GRCm38) |
T142S |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,351,598 (GRCm38) |
T570I |
probably benign |
Het |
| Nr5a2 |
T |
A |
1: 136,940,927 (GRCm38) |
M196L |
probably benign |
Het |
| Nrp1 |
C |
A |
8: 128,493,031 (GRCm38) |
F643L |
probably benign |
Het |
| Olfr1098 |
A |
G |
2: 86,923,028 (GRCm38) |
F168S |
probably damaging |
Het |
| Olfr1441 |
A |
T |
19: 12,422,311 (GRCm38) |
M1L |
probably benign |
Het |
| Olfr600 |
A |
G |
7: 103,346,244 (GRCm38) |
F228S |
probably damaging |
Het |
| Olfr625-ps1 |
T |
C |
7: 103,682,766 (GRCm38) |
I16T |
probably benign |
Het |
| Osbpl9 |
C |
T |
4: 109,068,483 (GRCm38) |
W446* |
probably null |
Het |
| Pced1a |
T |
C |
2: 130,419,707 (GRCm38) |
D342G |
possibly damaging |
Het |
| Prkcd |
C |
A |
14: 30,599,469 (GRCm38) |
W555L |
probably damaging |
Het |
| Prpf31 |
T |
C |
7: 3,630,899 (GRCm38) |
S78P |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,560,628 (GRCm38) |
T285A |
probably benign |
Het |
| Retreg3 |
A |
T |
11: 101,106,378 (GRCm38) |
L92* |
probably null |
Het |
| Rmdn1 |
A |
G |
4: 19,605,501 (GRCm38) |
K282E |
possibly damaging |
Het |
| Sept8 |
G |
T |
11: 53,537,265 (GRCm38) |
R302L |
probably damaging |
Het |
| Serpina3a |
A |
G |
12: 104,116,543 (GRCm38) |
I192V |
probably damaging |
Het |
| Sgce |
T |
C |
6: 4,711,301 (GRCm38) |
|
probably benign |
Het |
| Spats1 |
A |
T |
17: 45,474,817 (GRCm38) |
|
probably benign |
Het |
| Tcerg1l |
C |
T |
7: 138,248,371 (GRCm38) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,729,386 (GRCm38) |
V21230A |
probably damaging |
Het |
| Ubxn11 |
A |
C |
4: 134,109,584 (GRCm38) |
D41A |
possibly damaging |
Het |
| Vps13c |
T |
G |
9: 67,908,019 (GRCm38) |
I979S |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,914,617 (GRCm38) |
G997R |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,611,674 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Zc3h6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01732:Zc3h6
|
APN |
2 |
129,011,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01880:Zc3h6
|
APN |
2 |
129,017,378 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02160:Zc3h6
|
APN |
2 |
128,997,685 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02161:Zc3h6
|
APN |
2 |
128,993,226 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL02202:Zc3h6
|
APN |
2 |
129,016,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02973:Zc3h6
|
APN |
2 |
128,997,795 (GRCm38) |
missense |
probably damaging |
0.98 |
|
BB001:Zc3h6
|
UTSW |
2 |
129,015,480 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
BB011:Zc3h6
|
UTSW |
2 |
129,015,480 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R0336:Zc3h6
|
UTSW |
2 |
129,015,412 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0420:Zc3h6
|
UTSW |
2 |
129,014,827 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0538:Zc3h6
|
UTSW |
2 |
129,017,223 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0944:Zc3h6
|
UTSW |
2 |
129,006,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1151:Zc3h6
|
UTSW |
2 |
129,017,136 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1528:Zc3h6
|
UTSW |
2 |
129,017,069 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1698:Zc3h6
|
UTSW |
2 |
129,017,358 (GRCm38) |
missense |
probably benign |
|
|
R1712:Zc3h6
|
UTSW |
2 |
129,016,734 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1913:Zc3h6
|
UTSW |
2 |
129,016,620 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1926:Zc3h6
|
UTSW |
2 |
128,997,795 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2030:Zc3h6
|
UTSW |
2 |
129,006,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2051:Zc3h6
|
UTSW |
2 |
129,015,618 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R2133:Zc3h6
|
UTSW |
2 |
128,967,830 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R2273:Zc3h6
|
UTSW |
2 |
129,014,709 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2328:Zc3h6
|
UTSW |
2 |
128,993,202 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R2862:Zc3h6
|
UTSW |
2 |
129,015,460 (GRCm38) |
missense |
probably benign |
0.43 |
|
R2899:Zc3h6
|
UTSW |
2 |
129,002,232 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3711:Zc3h6
|
UTSW |
2 |
129,017,331 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3743:Zc3h6
|
UTSW |
2 |
128,997,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3893:Zc3h6
|
UTSW |
2 |
129,016,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4748:Zc3h6
|
UTSW |
2 |
129,002,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5025:Zc3h6
|
UTSW |
2 |
129,010,433 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5026:Zc3h6
|
UTSW |
2 |
129,017,309 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5125:Zc3h6
|
UTSW |
2 |
129,014,479 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5373:Zc3h6
|
UTSW |
2 |
129,002,156 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5374:Zc3h6
|
UTSW |
2 |
129,002,156 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5703:Zc3h6
|
UTSW |
2 |
128,993,452 (GRCm38) |
intron |
probably benign |
|
|
R5802:Zc3h6
|
UTSW |
2 |
129,015,559 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5876:Zc3h6
|
UTSW |
2 |
128,993,277 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5879:Zc3h6
|
UTSW |
2 |
128,997,776 (GRCm38) |
splice site |
probably null |
|
|
R5950:Zc3h6
|
UTSW |
2 |
128,997,790 (GRCm38) |
nonsense |
probably null |
|
|
R6031:Zc3h6
|
UTSW |
2 |
128,967,812 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6031:Zc3h6
|
UTSW |
2 |
128,967,812 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6781:Zc3h6
|
UTSW |
2 |
129,015,421 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7323:Zc3h6
|
UTSW |
2 |
128,993,411 (GRCm38) |
missense |
unknown |
|
|
R7340:Zc3h6
|
UTSW |
2 |
128,993,190 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7572:Zc3h6
|
UTSW |
2 |
129,017,252 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7576:Zc3h6
|
UTSW |
2 |
129,014,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7797:Zc3h6
|
UTSW |
2 |
129,015,635 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7924:Zc3h6
|
UTSW |
2 |
129,015,480 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8048:Zc3h6
|
UTSW |
2 |
129,017,014 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8877:Zc3h6
|
UTSW |
2 |
129,014,399 (GRCm38) |
nonsense |
probably null |
|
|
R9076:Zc3h6
|
UTSW |
2 |
129,017,176 (GRCm38) |
nonsense |
probably null |
|
|
R9577:Zc3h6
|
UTSW |
2 |
129,016,182 (GRCm38) |
missense |
|
|
|
R9687:Zc3h6
|
UTSW |
2 |
129,017,361 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9745:Zc3h6
|
UTSW |
2 |
129,017,235 (GRCm38) |
missense |
probably benign |
0.08 |
|
Z1176:Zc3h6
|
UTSW |
2 |
129,016,221 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation