Incidental Mutation 'IGL02253:Zfp516'
| ID |
286484 |
| 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 # |
IGL02253
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
82928788-83023439 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83012622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1125
(D1125G)
|
| 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: D1125G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: D1125G
| 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: D1125G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: D1125G
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,807,182 (GRCm39) |
E76G |
probably benign |
Het |
| Adamtsl2 |
A |
T |
2: 26,988,709 (GRCm39) |
T587S |
possibly damaging |
Het |
| Adgre4 |
T |
A |
17: 56,067,573 (GRCm39) |
M9K |
probably benign |
Het |
| Aff2 |
T |
A |
X: 68,874,397 (GRCm39) |
V447E |
probably benign |
Het |
| Arhgef10l |
G |
T |
4: 140,271,595 (GRCm39) |
S425* |
probably null |
Het |
| Cabcoco1 |
T |
C |
10: 68,272,107 (GRCm39) |
|
probably null |
Het |
| Calcr |
T |
A |
6: 3,707,523 (GRCm39) |
H259L |
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,859,161 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,091,936 (GRCm39) |
H540Y |
possibly damaging |
Het |
| Cyp2a22 |
A |
T |
7: 26,637,662 (GRCm39) |
|
probably benign |
Het |
| Ddx3x |
T |
C |
X: 13,151,207 (GRCm39) |
|
probably benign |
Het |
| Dnajc11 |
T |
A |
4: 152,034,976 (GRCm39) |
Y28* |
probably null |
Het |
| Dock11 |
T |
C |
X: 35,304,781 (GRCm39) |
F1472S |
probably damaging |
Het |
| Dusp18 |
T |
C |
11: 3,847,576 (GRCm39) |
*189Q |
probably null |
Het |
| Dzip3 |
A |
T |
16: 48,765,287 (GRCm39) |
Y476N |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,535,771 (GRCm39) |
|
probably benign |
Het |
| Fam151b |
A |
T |
13: 92,614,435 (GRCm39) |
Y18N |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,019,824 (GRCm39) |
F120S |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,490,788 (GRCm39) |
T969A |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,944,727 (GRCm39) |
L330P |
probably damaging |
Het |
| Kctd20 |
A |
G |
17: 29,180,460 (GRCm39) |
N7S |
probably benign |
Het |
| Kmt2b |
G |
T |
7: 30,281,152 (GRCm39) |
R1276S |
probably damaging |
Het |
| Kmt2d |
C |
T |
15: 98,756,056 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
G |
A |
12: 69,752,534 (GRCm39) |
|
probably benign |
Het |
| Lifr |
T |
G |
15: 7,220,085 (GRCm39) |
V905G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,305,899 (GRCm39) |
V4E |
probably benign |
Het |
| Nrip3 |
A |
C |
7: 109,360,951 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
T |
G |
13: 69,767,658 (GRCm39) |
V204G |
possibly damaging |
Het |
| Nup54 |
A |
G |
5: 92,565,310 (GRCm39) |
|
probably null |
Het |
| Or5p69 |
T |
A |
7: 107,967,261 (GRCm39) |
V188E |
possibly damaging |
Het |
| Or8c16 |
T |
A |
9: 38,131,031 (GRCm39) |
M304K |
probably benign |
Het |
| Pdcl3 |
A |
G |
1: 39,034,011 (GRCm39) |
D51G |
probably benign |
Het |
| Pdlim1 |
T |
C |
19: 40,218,974 (GRCm39) |
E219G |
probably damaging |
Het |
| Pld4 |
A |
C |
12: 112,733,141 (GRCm39) |
K239T |
probably damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,669,513 (GRCm39) |
Y291C |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,331,476 (GRCm39) |
H2228Q |
probably benign |
Het |
| Rnf222 |
T |
A |
11: 68,783,862 (GRCm39) |
I143N |
probably damaging |
Het |
| Sirt7 |
A |
G |
11: 120,511,693 (GRCm39) |
I13T |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,919,890 (GRCm39) |
|
noncoding transcript |
Het |
| Slx4ip |
T |
C |
2: 136,842,195 (GRCm39) |
|
probably null |
Het |
| Spata18 |
G |
T |
5: 73,825,939 (GRCm39) |
S164I |
possibly damaging |
Het |
| Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
| Stk26 |
T |
C |
X: 49,975,565 (GRCm39) |
L212P |
probably damaging |
Het |
| Tmsb15a |
T |
C |
X: 134,620,451 (GRCm39) |
I56V |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,760,742 (GRCm39) |
S150T |
probably damaging |
Het |
| Tubb3 |
T |
C |
8: 124,147,559 (GRCm39) |
M164T |
probably benign |
Het |
| Zyg11a |
A |
C |
4: 108,040,892 (GRCm39) |
V685G |
probably null |
Het |
|
| Other mutations in Zfp516 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Zfp516
|
APN |
18 |
82,975,233 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation