Incidental Mutation 'IGL01732:Zc3h6'
ID |
105520 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zc3h6
|
Ensembl Gene |
ENSMUSG00000042851 |
Gene Name |
zinc finger CCCH type containing 6 |
Synonyms |
4631426G04Rik, 4833425H18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.197)
|
Stock # |
IGL01732
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
128809322-128860483 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 128853795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 430
(I430T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105949
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110320]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110320
AA Change: I430T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105949 Gene: ENSMUSG00000042851 AA Change: I430T
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh4a1 |
G |
T |
4: 139,369,471 (GRCm39) |
E341* |
probably null |
Het |
Alpk3 |
A |
G |
7: 80,707,390 (GRCm39) |
R5G |
unknown |
Het |
Arhgef10l |
C |
T |
4: 140,307,726 (GRCm39) |
V113M |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,465,852 (GRCm39) |
I1872K |
probably benign |
Het |
Cdk17 |
C |
A |
10: 93,053,907 (GRCm39) |
P134T |
probably benign |
Het |
Cerk |
A |
G |
15: 86,030,517 (GRCm39) |
S35P |
possibly damaging |
Het |
Cfap126 |
T |
C |
1: 170,954,305 (GRCm39) |
V174A |
possibly damaging |
Het |
Cfhr1 |
T |
C |
1: 139,478,606 (GRCm39) |
T255A |
probably benign |
Het |
Clcn1 |
A |
G |
6: 42,287,606 (GRCm39) |
|
probably benign |
Het |
Copz1 |
A |
G |
15: 103,206,318 (GRCm39) |
E151G |
probably benign |
Het |
Cubn |
G |
A |
2: 13,494,747 (GRCm39) |
Q101* |
probably null |
Het |
Eri1 |
T |
C |
8: 35,958,397 (GRCm39) |
E12G |
possibly damaging |
Het |
Fut9 |
A |
G |
4: 25,619,867 (GRCm39) |
F316L |
possibly damaging |
Het |
Garin1a |
A |
T |
6: 29,285,979 (GRCm39) |
H146L |
probably damaging |
Het |
Gm973 |
A |
G |
1: 59,669,396 (GRCm39) |
I816V |
probably benign |
Het |
Itln1 |
A |
G |
1: 171,362,348 (GRCm39) |
M11T |
probably benign |
Het |
Klc2 |
C |
T |
19: 5,159,825 (GRCm39) |
R458Q |
probably damaging |
Het |
Lrrc8b |
A |
T |
5: 105,633,826 (GRCm39) |
E766V |
probably damaging |
Het |
Mmadhc |
A |
T |
2: 50,171,197 (GRCm39) |
I205N |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,732,149 (GRCm39) |
I342V |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,851,195 (GRCm39) |
V796D |
probably damaging |
Het |
Olfm3 |
A |
C |
3: 114,890,649 (GRCm39) |
D134A |
possibly damaging |
Het |
Or3a1c |
T |
C |
11: 74,046,279 (GRCm39) |
C100R |
probably damaging |
Het |
Or51t4 |
T |
A |
7: 102,598,446 (GRCm39) |
I248N |
probably damaging |
Het |
Or56b2 |
T |
C |
7: 104,337,543 (GRCm39) |
M107T |
possibly damaging |
Het |
Phldb3 |
A |
G |
7: 24,326,751 (GRCm39) |
E593G |
probably damaging |
Het |
Plcg1 |
T |
A |
2: 160,589,699 (GRCm39) |
D74E |
probably damaging |
Het |
Plekhm3 |
T |
C |
1: 64,961,407 (GRCm39) |
D283G |
probably benign |
Het |
Pnpla6 |
C |
A |
8: 3,572,616 (GRCm39) |
T279N |
probably damaging |
Het |
Prkcq |
G |
A |
2: 11,265,644 (GRCm39) |
|
probably benign |
Het |
Rbm11 |
G |
A |
16: 75,397,510 (GRCm39) |
A147T |
probably benign |
Het |
Rnf103 |
A |
G |
6: 71,487,366 (GRCm39) |
K666E |
probably damaging |
Het |
Selenos |
A |
G |
7: 65,730,137 (GRCm39) |
Y45C |
probably damaging |
Het |
Septin11 |
A |
G |
5: 93,309,085 (GRCm39) |
Y255C |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,199,702 (GRCm39) |
H273R |
probably benign |
Het |
Slc35f2 |
A |
G |
9: 53,713,909 (GRCm39) |
D141G |
probably damaging |
Het |
Sntg2 |
A |
T |
12: 30,362,648 (GRCm39) |
Y33N |
probably damaging |
Het |
Snx19 |
C |
A |
9: 30,373,649 (GRCm39) |
T904K |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,544,716 (GRCm39) |
Y2244C |
probably damaging |
Het |
Tescl |
A |
G |
7: 24,032,872 (GRCm39) |
V151A |
probably damaging |
Het |
Tnrc18 |
C |
T |
5: 142,757,816 (GRCm39) |
V902M |
unknown |
Het |
Trmt13 |
A |
G |
3: 116,375,113 (GRCm39) |
L465S |
probably damaging |
Het |
Ube2j2 |
T |
G |
4: 156,041,788 (GRCm39) |
V249G |
probably damaging |
Het |
Zan |
T |
C |
5: 137,391,273 (GRCm39) |
K4737R |
unknown |
Het |
Zfp750 |
G |
A |
11: 121,403,819 (GRCm39) |
S352L |
probably benign |
Het |
Zfp819 |
A |
G |
7: 43,265,846 (GRCm39) |
K34E |
probably benign |
Het |
|
Other mutations in Zc3h6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01880:Zc3h6
|
APN |
2 |
128,859,298 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02160:Zc3h6
|
APN |
2 |
128,839,605 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02161:Zc3h6
|
APN |
2 |
128,835,146 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02202:Zc3h6
|
APN |
2 |
128,858,501 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02547:Zc3h6
|
APN |
2 |
128,857,531 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02973:Zc3h6
|
APN |
2 |
128,839,715 (GRCm39) |
missense |
probably damaging |
0.98 |
BB001:Zc3h6
|
UTSW |
2 |
128,857,400 (GRCm39) |
missense |
possibly damaging |
0.52 |
BB011:Zc3h6
|
UTSW |
2 |
128,857,400 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0336:Zc3h6
|
UTSW |
2 |
128,857,332 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0420:Zc3h6
|
UTSW |
2 |
128,856,747 (GRCm39) |
missense |
probably benign |
0.00 |
R0538:Zc3h6
|
UTSW |
2 |
128,859,143 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0944:Zc3h6
|
UTSW |
2 |
128,848,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R1151:Zc3h6
|
UTSW |
2 |
128,859,056 (GRCm39) |
missense |
probably benign |
0.00 |
R1528:Zc3h6
|
UTSW |
2 |
128,858,989 (GRCm39) |
missense |
probably benign |
0.01 |
R1698:Zc3h6
|
UTSW |
2 |
128,859,278 (GRCm39) |
missense |
probably benign |
|
R1712:Zc3h6
|
UTSW |
2 |
128,858,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R1913:Zc3h6
|
UTSW |
2 |
128,858,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R1926:Zc3h6
|
UTSW |
2 |
128,839,715 (GRCm39) |
missense |
probably damaging |
0.98 |
R2030:Zc3h6
|
UTSW |
2 |
128,848,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R2051:Zc3h6
|
UTSW |
2 |
128,857,538 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2133:Zc3h6
|
UTSW |
2 |
128,809,750 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2273:Zc3h6
|
UTSW |
2 |
128,856,629 (GRCm39) |
missense |
probably benign |
0.01 |
R2328:Zc3h6
|
UTSW |
2 |
128,835,122 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2862:Zc3h6
|
UTSW |
2 |
128,857,380 (GRCm39) |
missense |
probably benign |
0.43 |
R2899:Zc3h6
|
UTSW |
2 |
128,844,152 (GRCm39) |
missense |
probably benign |
0.00 |
R3711:Zc3h6
|
UTSW |
2 |
128,859,251 (GRCm39) |
missense |
probably benign |
0.00 |
R3743:Zc3h6
|
UTSW |
2 |
128,839,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R3893:Zc3h6
|
UTSW |
2 |
128,858,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R4748:Zc3h6
|
UTSW |
2 |
128,844,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R5025:Zc3h6
|
UTSW |
2 |
128,852,353 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5026:Zc3h6
|
UTSW |
2 |
128,859,229 (GRCm39) |
missense |
probably benign |
0.00 |
R5125:Zc3h6
|
UTSW |
2 |
128,856,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5373:Zc3h6
|
UTSW |
2 |
128,844,076 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5374:Zc3h6
|
UTSW |
2 |
128,844,076 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5703:Zc3h6
|
UTSW |
2 |
128,835,372 (GRCm39) |
intron |
probably benign |
|
R5802:Zc3h6
|
UTSW |
2 |
128,857,479 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5876:Zc3h6
|
UTSW |
2 |
128,835,197 (GRCm39) |
missense |
probably benign |
0.29 |
R5879:Zc3h6
|
UTSW |
2 |
128,839,696 (GRCm39) |
splice site |
probably null |
|
R5950:Zc3h6
|
UTSW |
2 |
128,839,710 (GRCm39) |
nonsense |
probably null |
|
R6031:Zc3h6
|
UTSW |
2 |
128,809,732 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6031:Zc3h6
|
UTSW |
2 |
128,809,732 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6781:Zc3h6
|
UTSW |
2 |
128,857,341 (GRCm39) |
missense |
probably damaging |
0.99 |
R7323:Zc3h6
|
UTSW |
2 |
128,835,331 (GRCm39) |
missense |
unknown |
|
R7340:Zc3h6
|
UTSW |
2 |
128,835,110 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7572:Zc3h6
|
UTSW |
2 |
128,859,172 (GRCm39) |
missense |
probably benign |
0.02 |
R7576:Zc3h6
|
UTSW |
2 |
128,856,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R7797:Zc3h6
|
UTSW |
2 |
128,857,555 (GRCm39) |
critical splice donor site |
probably null |
|
R7924:Zc3h6
|
UTSW |
2 |
128,857,400 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8048:Zc3h6
|
UTSW |
2 |
128,858,934 (GRCm39) |
missense |
probably benign |
0.30 |
R8877:Zc3h6
|
UTSW |
2 |
128,856,319 (GRCm39) |
nonsense |
probably null |
|
R9076:Zc3h6
|
UTSW |
2 |
128,859,096 (GRCm39) |
nonsense |
probably null |
|
R9577:Zc3h6
|
UTSW |
2 |
128,858,102 (GRCm39) |
missense |
|
|
R9687:Zc3h6
|
UTSW |
2 |
128,859,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R9745:Zc3h6
|
UTSW |
2 |
128,859,155 (GRCm39) |
missense |
probably benign |
0.08 |
Z1176:Zc3h6
|
UTSW |
2 |
128,858,141 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2014-01-21 |