Incidental Mutation 'IGL02547:Zfp518a'
ID |
297858 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp518a
|
Ensembl Gene |
ENSMUSG00000049164 |
Gene Name |
zinc finger protein 518A |
Synonyms |
6330417C12Rik, Zfp518, 2810401C22Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.926)
|
Stock # |
IGL02547
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
40883149-40906391 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 40903061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 997
(G997R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050092]
|
AlphaFold |
B2RRF6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050092
AA Change: G997R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055956 Gene: ENSMUSG00000049164 AA Change: G997R
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
121 |
146 |
1.38e2 |
SMART |
ZnF_C2H2
|
152 |
174 |
4.98e-1 |
SMART |
ZnF_C2H2
|
179 |
203 |
6.75e0 |
SMART |
ZnF_C2H2
|
209 |
231 |
4.34e-1 |
SMART |
ZnF_C2H2
|
236 |
258 |
1.33e-1 |
SMART |
ZnF_C2H2
|
264 |
287 |
9.44e-2 |
SMART |
low complexity region
|
308 |
319 |
N/A |
INTRINSIC |
low complexity region
|
407 |
418 |
N/A |
INTRINSIC |
low complexity region
|
544 |
563 |
N/A |
INTRINSIC |
low complexity region
|
671 |
680 |
N/A |
INTRINSIC |
low complexity region
|
814 |
825 |
N/A |
INTRINSIC |
low complexity region
|
1147 |
1164 |
N/A |
INTRINSIC |
low complexity region
|
1417 |
1424 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1444 |
1466 |
1.33e1 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
T |
A |
12: 53,187,479 (GRCm39) |
L1631H |
probably damaging |
Het |
Atf7ip |
T |
A |
6: 136,580,274 (GRCm39) |
|
probably benign |
Het |
Atp5po |
A |
T |
16: 91,725,849 (GRCm39) |
Y48N |
probably damaging |
Het |
Birc6 |
T |
G |
17: 74,886,640 (GRCm39) |
M656R |
probably benign |
Het |
Camkk1 |
A |
G |
11: 72,929,259 (GRCm39) |
R455G |
probably benign |
Het |
Casr |
A |
T |
16: 36,336,036 (GRCm39) |
M91K |
probably benign |
Het |
Ccdc28a |
A |
T |
10: 18,089,894 (GRCm39) |
V124D |
possibly damaging |
Het |
Ccnh |
T |
C |
13: 85,350,623 (GRCm39) |
|
probably benign |
Het |
Cdc37 |
G |
T |
9: 21,051,262 (GRCm39) |
|
probably benign |
Het |
Cdon |
A |
G |
9: 35,389,950 (GRCm39) |
D868G |
probably damaging |
Het |
Cstdc3 |
A |
T |
16: 36,132,888 (GRCm39) |
|
probably benign |
Het |
Cyp4f15 |
A |
G |
17: 32,919,229 (GRCm39) |
R351G |
probably benign |
Het |
Dclk3 |
T |
C |
9: 111,298,091 (GRCm39) |
I545T |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,787,478 (GRCm39) |
M798V |
probably benign |
Het |
Gas7 |
A |
T |
11: 67,556,261 (GRCm39) |
Q200L |
probably damaging |
Het |
Ica1 |
T |
C |
6: 8,670,691 (GRCm39) |
|
probably null |
Het |
Idh3a |
T |
A |
9: 54,499,679 (GRCm39) |
V31D |
probably benign |
Het |
Il3ra |
A |
T |
14: 14,351,970 (GRCm38) |
T247S |
probably benign |
Het |
Itgb7 |
A |
G |
15: 102,126,945 (GRCm39) |
C497R |
probably damaging |
Het |
Itm2c |
T |
C |
1: 85,834,182 (GRCm39) |
Y166H |
probably damaging |
Het |
Mphosph8 |
A |
G |
14: 56,909,941 (GRCm39) |
D98G |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,103,284 (GRCm39) |
I207F |
probably benign |
Het |
Muc15 |
A |
G |
2: 110,561,650 (GRCm39) |
R29G |
probably damaging |
Het |
Neb |
T |
A |
2: 52,078,742 (GRCm39) |
T142S |
probably damaging |
Het |
Nipbl |
G |
A |
15: 8,381,082 (GRCm39) |
T570I |
probably benign |
Het |
Nr5a2 |
T |
A |
1: 136,868,665 (GRCm39) |
M196L |
probably benign |
Het |
Nrp1 |
C |
A |
8: 129,219,512 (GRCm39) |
F643L |
probably benign |
Het |
Or52ad1 |
A |
G |
7: 102,995,451 (GRCm39) |
F228S |
probably damaging |
Het |
Or52z15 |
T |
C |
7: 103,331,973 (GRCm39) |
I16T |
probably benign |
Het |
Or5a3 |
A |
T |
19: 12,399,675 (GRCm39) |
M1L |
probably benign |
Het |
Or8h8 |
A |
G |
2: 86,753,372 (GRCm39) |
F168S |
probably damaging |
Het |
Osbpl9 |
C |
T |
4: 108,925,680 (GRCm39) |
W446* |
probably null |
Het |
Pced1a |
T |
C |
2: 130,261,627 (GRCm39) |
D342G |
possibly damaging |
Het |
Pira13 |
T |
C |
7: 3,824,660 (GRCm39) |
D573G |
probably damaging |
Het |
Prkcd |
C |
A |
14: 30,321,426 (GRCm39) |
W555L |
probably damaging |
Het |
Prpf31 |
T |
C |
7: 3,633,898 (GRCm39) |
S78P |
probably benign |
Het |
Psg27 |
T |
C |
7: 18,294,553 (GRCm39) |
T285A |
probably benign |
Het |
Retreg3 |
A |
T |
11: 100,997,204 (GRCm39) |
L92* |
probably null |
Het |
Rmdn1 |
A |
G |
4: 19,605,501 (GRCm39) |
K282E |
possibly damaging |
Het |
Septin8 |
G |
T |
11: 53,428,092 (GRCm39) |
R302L |
probably damaging |
Het |
Serpina3a |
A |
G |
12: 104,082,802 (GRCm39) |
I192V |
probably damaging |
Het |
Sgce |
T |
C |
6: 4,711,301 (GRCm39) |
|
probably benign |
Het |
Slco1a8 |
A |
T |
6: 141,936,116 (GRCm39) |
L323Q |
probably damaging |
Het |
Spats1 |
A |
T |
17: 45,785,743 (GRCm39) |
|
probably benign |
Het |
Tcerg1l |
C |
T |
7: 137,850,100 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,559,730 (GRCm39) |
V21230A |
probably damaging |
Het |
Ubxn11 |
A |
C |
4: 133,836,895 (GRCm39) |
D41A |
possibly damaging |
Het |
Vps13c |
T |
G |
9: 67,815,301 (GRCm39) |
I979S |
possibly damaging |
Het |
Zc3h6 |
T |
A |
2: 128,857,531 (GRCm39) |
H683Q |
probably benign |
Het |
Zfp1007 |
C |
T |
5: 109,826,628 (GRCm39) |
|
probably null |
Het |
Zfp629 |
T |
C |
7: 127,210,846 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Zfp518a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00508:Zfp518a
|
APN |
19 |
40,901,914 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00647:Zfp518a
|
APN |
19 |
40,903,130 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01468:Zfp518a
|
APN |
19 |
40,904,475 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02079:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02080:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02437:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02466:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02470:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02471:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02472:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02500:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02537:Zfp518a
|
APN |
19 |
40,903,874 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02537:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02546:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02561:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02568:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02583:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02584:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02586:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02589:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02614:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02732:Zfp518a
|
APN |
19 |
40,903,061 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02961:Zfp518a
|
APN |
19 |
40,903,462 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02985:Zfp518a
|
APN |
19 |
40,902,111 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4630_zfp518a_157
|
UTSW |
19 |
40,901,423 (GRCm39) |
nonsense |
probably null |
|
R0137:Zfp518a
|
UTSW |
19 |
40,904,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R0218:Zfp518a
|
UTSW |
19 |
40,901,072 (GRCm39) |
missense |
probably benign |
0.25 |
R0367:Zfp518a
|
UTSW |
19 |
40,900,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R0575:Zfp518a
|
UTSW |
19 |
40,900,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R1418:Zfp518a
|
UTSW |
19 |
40,902,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Zfp518a
|
UTSW |
19 |
40,904,000 (GRCm39) |
missense |
probably benign |
0.05 |
R1965:Zfp518a
|
UTSW |
19 |
40,901,954 (GRCm39) |
missense |
probably benign |
0.00 |
R2076:Zfp518a
|
UTSW |
19 |
40,902,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R3796:Zfp518a
|
UTSW |
19 |
40,903,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R3799:Zfp518a
|
UTSW |
19 |
40,903,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R3807:Zfp518a
|
UTSW |
19 |
40,903,241 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3904:Zfp518a
|
UTSW |
19 |
40,903,364 (GRCm39) |
nonsense |
probably null |
|
R3959:Zfp518a
|
UTSW |
19 |
40,901,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R4630:Zfp518a
|
UTSW |
19 |
40,901,423 (GRCm39) |
nonsense |
probably null |
|
R4662:Zfp518a
|
UTSW |
19 |
40,900,304 (GRCm39) |
missense |
probably benign |
0.01 |
R4844:Zfp518a
|
UTSW |
19 |
40,903,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R4911:Zfp518a
|
UTSW |
19 |
40,903,972 (GRCm39) |
missense |
probably benign |
0.04 |
R4934:Zfp518a
|
UTSW |
19 |
40,902,707 (GRCm39) |
missense |
probably benign |
0.01 |
R4964:Zfp518a
|
UTSW |
19 |
40,904,295 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4966:Zfp518a
|
UTSW |
19 |
40,904,295 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5373:Zfp518a
|
UTSW |
19 |
40,901,954 (GRCm39) |
missense |
probably benign |
0.00 |
R5374:Zfp518a
|
UTSW |
19 |
40,901,954 (GRCm39) |
missense |
probably benign |
0.00 |
R5378:Zfp518a
|
UTSW |
19 |
40,904,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R5509:Zfp518a
|
UTSW |
19 |
40,903,845 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5891:Zfp518a
|
UTSW |
19 |
40,900,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R6187:Zfp518a
|
UTSW |
19 |
40,903,890 (GRCm39) |
missense |
probably benign |
0.03 |
R6259:Zfp518a
|
UTSW |
19 |
40,901,225 (GRCm39) |
missense |
probably benign |
0.01 |
R6260:Zfp518a
|
UTSW |
19 |
40,902,567 (GRCm39) |
missense |
probably benign |
0.00 |
R6763:Zfp518a
|
UTSW |
19 |
40,902,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7419:Zfp518a
|
UTSW |
19 |
40,902,207 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7448:Zfp518a
|
UTSW |
19 |
40,902,601 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7719:Zfp518a
|
UTSW |
19 |
40,901,212 (GRCm39) |
missense |
probably benign |
0.01 |
R7753:Zfp518a
|
UTSW |
19 |
40,904,249 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8181:Zfp518a
|
UTSW |
19 |
40,902,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R8470:Zfp518a
|
UTSW |
19 |
40,904,162 (GRCm39) |
missense |
probably benign |
0.01 |
R8905:Zfp518a
|
UTSW |
19 |
40,902,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R8911:Zfp518a
|
UTSW |
19 |
40,901,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8912:Zfp518a
|
UTSW |
19 |
40,901,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8917:Zfp518a
|
UTSW |
19 |
40,901,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8918:Zfp518a
|
UTSW |
19 |
40,901,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8968:Zfp518a
|
UTSW |
19 |
40,901,870 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9029:Zfp518a
|
UTSW |
19 |
40,901,225 (GRCm39) |
missense |
probably benign |
|
R9335:Zfp518a
|
UTSW |
19 |
40,901,225 (GRCm39) |
missense |
probably benign |
|
R9336:Zfp518a
|
UTSW |
19 |
40,901,225 (GRCm39) |
missense |
probably benign |
|
R9581:Zfp518a
|
UTSW |
19 |
40,900,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R9750:Zfp518a
|
UTSW |
19 |
40,903,889 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0028:Zfp518a
|
UTSW |
19 |
40,903,377 (GRCm39) |
missense |
possibly damaging |
0.61 |
X0065:Zfp518a
|
UTSW |
19 |
40,902,626 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |