Incidental Mutation 'R8245:Zfp516'
| ID |
640847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp516
|
| Ensembl Gene |
ENSMUSG00000058881 |
| Gene Name |
zinc finger protein 516 |
| Synonyms |
Zfp26l, C330029B10Rik |
| MMRRC Submission |
067673-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R8245 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
82928788-83023439 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 82974458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 219
(G219C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071233]
[ENSMUST00000171238]
|
| AlphaFold |
Q7TSH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071233
AA Change: G219C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: G219C
| 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 damaging
Transcript: ENSMUST00000171238
AA Change: G219C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: G219C
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,539,870 (GRCm39) |
|
probably null |
Het |
| Adam4 |
A |
T |
12: 81,466,657 (GRCm39) |
C655S |
probably damaging |
Het |
| Adamts13 |
A |
C |
2: 26,880,568 (GRCm39) |
D717A |
probably damaging |
Het |
| Atf7ip2 |
A |
G |
16: 10,019,262 (GRCm39) |
N30S |
possibly damaging |
Het |
| Bmp8b |
T |
C |
4: 123,008,532 (GRCm39) |
V166A |
probably benign |
Het |
| Bpifb9a |
G |
A |
2: 154,104,646 (GRCm39) |
G261R |
probably benign |
Het |
| Cdipt |
G |
T |
7: 126,578,732 (GRCm39) |
M174I |
probably benign |
Het |
| Cep128 |
T |
C |
12: 90,966,419 (GRCm39) |
T1063A |
probably benign |
Het |
| Ciao1 |
A |
G |
2: 127,088,404 (GRCm39) |
Y140H |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,024,408 (GRCm39) |
S217P |
unknown |
Het |
| Cnot2 |
T |
A |
10: 116,346,294 (GRCm39) |
I103F |
probably benign |
Het |
| Col27a1 |
T |
G |
4: 63,144,040 (GRCm39) |
V576G |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,878,710 (GRCm39) |
H566Q |
probably benign |
Het |
| Dhrs2 |
T |
A |
14: 55,478,637 (GRCm39) |
C261S |
possibly damaging |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,886,934 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,246,673 (GRCm39) |
F1293Y |
probably damaging |
Het |
| Fsip1 |
T |
A |
2: 118,075,359 (GRCm39) |
K218M |
unknown |
Het |
| Fsip2 |
G |
T |
2: 82,811,346 (GRCm39) |
S2555I |
possibly damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,714,785 (GRCm39) |
K358E |
probably benign |
Het |
| Gm9637 |
A |
T |
14: 19,402,598 (GRCm38) |
V1D |
noncoding transcript |
Het |
| H2-M10.6 |
T |
C |
17: 37,124,155 (GRCm39) |
|
probably null |
Het |
| Hand2 |
A |
G |
8: 57,774,994 (GRCm39) |
Y18C |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,895 (GRCm39) |
V607E |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,418,485 (GRCm39) |
R862* |
probably null |
Het |
| Ildr1 |
A |
G |
16: 36,529,883 (GRCm39) |
D90G |
probably damaging |
Het |
| Ints12 |
A |
G |
3: 132,814,633 (GRCm39) |
N280S |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Itpr2 |
T |
A |
6: 146,274,604 (GRCm39) |
K859N |
probably damaging |
Het |
| Lhx9 |
G |
T |
1: 138,766,179 (GRCm39) |
A212D |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,162,229 (GRCm39) |
T322I |
unknown |
Het |
| Ndufaf4 |
A |
G |
4: 24,898,648 (GRCm39) |
D71G |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,214,434 (GRCm39) |
S641T |
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,863,080 (GRCm39) |
N37I |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,913,066 (GRCm39) |
I271F |
|
Het |
| Or2ag16 |
T |
C |
7: 106,352,374 (GRCm39) |
T74A |
probably benign |
Het |
| Or4d2b |
G |
A |
11: 87,780,443 (GRCm39) |
S93F |
probably damaging |
Het |
| Or6c5b |
T |
C |
10: 129,245,975 (GRCm39) |
S247P |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,126 (GRCm39) |
Y168H |
probably benign |
Het |
| Or9g4b |
A |
G |
2: 85,616,119 (GRCm39) |
E88G |
probably benign |
Het |
| Oxa1l |
T |
C |
14: 54,605,274 (GRCm39) |
S317P |
probably damaging |
Het |
| Poglut2 |
A |
T |
1: 44,156,226 (GRCm39) |
H120Q |
probably benign |
Het |
| Polr2a |
C |
T |
11: 69,630,779 (GRCm39) |
R1213H |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,283,468 (GRCm39) |
S516C |
probably null |
Het |
| Rabep2 |
A |
G |
7: 126,039,580 (GRCm39) |
T336A |
possibly damaging |
Het |
| Ralgapb |
G |
A |
2: 158,285,256 (GRCm39) |
C585Y |
probably damaging |
Het |
| Rexo4 |
A |
G |
2: 26,850,350 (GRCm39) |
S276P |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCTGCGGCGGC |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,099,789 (GRCm39) |
L160P |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,256,492 (GRCm39) |
F419S |
probably benign |
Het |
| Stag1 |
C |
A |
9: 100,811,946 (GRCm39) |
T808K |
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,604,931 (GRCm39) |
N201K |
possibly damaging |
Het |
| Stat1 |
G |
A |
1: 52,194,178 (GRCm39) |
R704Q |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,331,303 (GRCm39) |
D2236G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,379,592 (GRCm39) |
Y944F |
|
Het |
| Tmem225 |
G |
T |
9: 40,061,955 (GRCm39) |
V190F |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,521,022 (GRCm39) |
V400D |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,022,712 (GRCm39) |
G971D |
probably damaging |
Het |
| Trh |
C |
T |
6: 92,220,050 (GRCm39) |
V89I |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,717,205 (GRCm39) |
D404G |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,204,645 (GRCm39) |
V990A |
probably damaging |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,396 (GRCm39) |
Y196N |
possibly damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,945,936 (GRCm39) |
D557G |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTCCTTCTGTAAGAGCC -3'
(R):5'- ATCCAGCTCACTCTTGGGTC -3'
Sequencing Primer
(F):5'- CCTTCTGTAAGAGCCGGTTCGAG -3'
(R):5'- TTCTTGAGGAACCAAGGCTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation