Incidental Mutation 'IGL00434:Zfp516'
| ID |
3279 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp516
|
| Ensembl Gene |
ENSMUSG00000058881 |
| Gene Name |
zinc finger protein 516 |
| Synonyms |
Zfp26l, C330029B10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
IGL00434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
82928788-83023439 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82975233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 477
(M477K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071233]
[ENSMUST00000171238]
|
| AlphaFold |
Q7TSH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071233
AA Change: M477K
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: M477K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
34 |
56 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
62 |
84 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
162 |
185 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
188 |
211 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
236 |
258 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
264 |
286 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
2.63e0 |
SMART |
|
ZnF_C2H2
|
504 |
526 |
5.72e-1 |
SMART |
|
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
753 |
776 |
2.97e1 |
SMART |
|
low complexity region
|
834 |
846 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1092 |
1114 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171238
AA Change: M477K
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: M477K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
23 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
34 |
56 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
62 |
84 |
3.95e-4 |
SMART |
|
ZnF_C2H2
|
162 |
185 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
188 |
211 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
236 |
258 |
3.16e-3 |
SMART |
|
ZnF_C2H2
|
264 |
286 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
323 |
345 |
2.63e0 |
SMART |
|
ZnF_C2H2
|
504 |
526 |
5.72e-1 |
SMART |
|
low complexity region
|
527 |
544 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
753 |
776 |
2.97e1 |
SMART |
|
low complexity region
|
834 |
846 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1092 |
1114 |
1.12e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,269,181 (GRCm39) |
V1098A |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,041,448 (GRCm39) |
F2609L |
probably damaging |
Het |
| Ccdc126 |
C |
T |
6: 49,311,239 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,135,271 (GRCm39) |
L54P |
probably damaging |
Het |
| Cdsn |
A |
T |
17: 35,865,740 (GRCm39) |
S90C |
unknown |
Het |
| Clcn6 |
G |
T |
4: 148,098,195 (GRCm39) |
D581E |
probably damaging |
Het |
| Clec4f |
T |
A |
6: 83,630,198 (GRCm39) |
H120L |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,560,614 (GRCm39) |
T1838A |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,878,524 (GRCm39) |
D211G |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,381,261 (GRCm39) |
|
probably benign |
Het |
| Dgkk |
T |
A |
X: 6,772,697 (GRCm39) |
M462K |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,091,759 (GRCm39) |
H834Q |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,353,504 (GRCm39) |
Y578H |
possibly damaging |
Het |
| Fnip2 |
C |
A |
3: 79,419,796 (GRCm39) |
|
probably benign |
Het |
| Fut1 |
T |
G |
7: 45,268,855 (GRCm39) |
C270G |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,884,707 (GRCm39) |
V170D |
probably damaging |
Het |
| Gys1 |
T |
A |
7: 45,094,256 (GRCm39) |
M364K |
possibly damaging |
Het |
| Ighv1-85 |
A |
C |
12: 115,963,654 (GRCm39) |
C115W |
probably damaging |
Het |
| Igkv4-74 |
T |
G |
6: 69,162,044 (GRCm39) |
T42P |
probably damaging |
Het |
| Jmjd4 |
A |
G |
11: 59,341,321 (GRCm39) |
Y84C |
probably damaging |
Het |
| Kif11 |
A |
C |
19: 37,399,857 (GRCm39) |
E781D |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Klf1 |
C |
T |
8: 85,628,628 (GRCm39) |
P9S |
possibly damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,191 (GRCm39) |
|
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,028,230 (GRCm39) |
R309L |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,293,014 (GRCm39) |
E131G |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mgme1 |
T |
A |
2: 144,121,056 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
G |
A |
11: 100,515,808 (GRCm39) |
G45D |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,532,875 (GRCm39) |
D16E |
possibly damaging |
Het |
| Pcyox1l |
T |
C |
18: 61,830,613 (GRCm39) |
T420A |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,826,088 (GRCm39) |
G302C |
probably damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,741,738 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,503 (GRCm39) |
D89G |
probably damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,776 (GRCm39) |
R302H |
probably benign |
Het |
| Riok3 |
T |
C |
18: 12,281,904 (GRCm39) |
V291A |
probably damaging |
Het |
| Rragd |
A |
G |
4: 33,007,219 (GRCm39) |
|
probably benign |
Het |
| Scai |
C |
A |
2: 38,998,406 (GRCm39) |
L174F |
probably damaging |
Het |
| Slc25a44 |
T |
C |
3: 88,323,369 (GRCm39) |
I227V |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,938,548 (GRCm39) |
L160P |
probably damaging |
Het |
| Slc38a1 |
A |
G |
15: 96,483,504 (GRCm39) |
Y275H |
possibly damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,916,375 (GRCm39) |
|
noncoding transcript |
Het |
| Spag8 |
G |
T |
4: 43,652,890 (GRCm39) |
C190* |
probably null |
Het |
| Tbr1 |
T |
C |
2: 61,635,625 (GRCm39) |
F192L |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,850,886 (GRCm39) |
E118K |
probably damaging |
Het |
| Tti1 |
T |
A |
2: 157,850,885 (GRCm39) |
E118V |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,852,821 (GRCm39) |
P713Q |
probably damaging |
Het |
| Vcf2 |
A |
T |
X: 149,181,395 (GRCm39) |
V132E |
possibly damaging |
Het |
| Wt1 |
G |
T |
2: 104,974,486 (GRCm39) |
|
probably null |
Het |
| Xylt1 |
T |
A |
7: 117,249,912 (GRCm39) |
I694N |
probably damaging |
Het |
|
| Other mutations in Zfp516 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01343:Zfp516
|
APN |
18 |
83,011,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01413:Zfp516
|
APN |
18 |
83,005,795 (GRCm39) |
nonsense |
probably null |
|
|
IGL01684:Zfp516
|
APN |
18 |
82,975,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01820:Zfp516
|
APN |
18 |
83,005,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02081:Zfp516
|
APN |
18 |
82,973,858 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02209:Zfp516
|
APN |
18 |
83,012,622 (GRCm39) |
missense |
probably benign |
|
|
IGL02253:Zfp516
|
APN |
18 |
83,012,622 (GRCm39) |
missense |
probably benign |
|
|
IGL03028:Zfp516
|
APN |
18 |
82,974,038 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03241:Zfp516
|
APN |
18 |
83,005,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0379:Zfp516
|
UTSW |
18 |
83,005,795 (GRCm39) |
nonsense |
probably null |
|
|
R0426:Zfp516
|
UTSW |
18 |
82,973,897 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0466:Zfp516
|
UTSW |
18 |
82,975,579 (GRCm39) |
splice site |
probably null |
|
|
R0715:Zfp516
|
UTSW |
18 |
83,005,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Zfp516
|
UTSW |
18 |
83,011,300 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1574:Zfp516
|
UTSW |
18 |
83,011,300 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2110:Zfp516
|
UTSW |
18 |
82,975,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2112:Zfp516
|
UTSW |
18 |
82,975,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2162:Zfp516
|
UTSW |
18 |
83,005,063 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2223:Zfp516
|
UTSW |
18 |
82,973,895 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4097:Zfp516
|
UTSW |
18 |
83,005,381 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4299:Zfp516
|
UTSW |
18 |
83,005,622 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4378:Zfp516
|
UTSW |
18 |
83,005,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4601:Zfp516
|
UTSW |
18 |
82,974,164 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4721:Zfp516
|
UTSW |
18 |
82,975,236 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4946:Zfp516
|
UTSW |
18 |
82,974,219 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5186:Zfp516
|
UTSW |
18 |
82,975,218 (GRCm39) |
missense |
probably benign |
|
|
R5351:Zfp516
|
UTSW |
18 |
82,974,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5937:Zfp516
|
UTSW |
18 |
82,974,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5998:Zfp516
|
UTSW |
18 |
82,974,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6458:Zfp516
|
UTSW |
18 |
83,005,475 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6513:Zfp516
|
UTSW |
18 |
82,973,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6626:Zfp516
|
UTSW |
18 |
83,006,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6712:Zfp516
|
UTSW |
18 |
82,975,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6877:Zfp516
|
UTSW |
18 |
82,973,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Zfp516
|
UTSW |
18 |
82,975,125 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7073:Zfp516
|
UTSW |
18 |
83,006,325 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7463:Zfp516
|
UTSW |
18 |
82,975,233 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7863:Zfp516
|
UTSW |
18 |
83,019,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8097:Zfp516
|
UTSW |
18 |
83,005,295 (GRCm39) |
nonsense |
probably null |
|
|
R8244:Zfp516
|
UTSW |
18 |
82,974,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Zfp516
|
UTSW |
18 |
82,974,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8362:Zfp516
|
UTSW |
18 |
83,005,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8410:Zfp516
|
UTSW |
18 |
82,974,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8780:Zfp516
|
UTSW |
18 |
83,006,080 (GRCm39) |
missense |
probably benign |
|
|
R8791:Zfp516
|
UTSW |
18 |
82,975,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Zfp516
|
UTSW |
18 |
82,973,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9556:Zfp516
|
UTSW |
18 |
82,974,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0019:Zfp516
|
UTSW |
18 |
83,005,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Zfp516
|
UTSW |
18 |
83,005,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfp516
|
UTSW |
18 |
83,005,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Zfp516
|
UTSW |
18 |
82,974,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zfp516
|
UTSW |
18 |
82,974,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation