Incidental Mutation 'R6886:Zfp516'
ID |
536977 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp516
|
Ensembl Gene |
ENSMUSG00000058881 |
Gene Name |
zinc finger protein 516 |
Synonyms |
Zfp26l, C330029B10Rik |
MMRRC Submission |
044980-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R6886 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
82928788-83023439 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 82975125 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 441
(D441G)
|
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: D441G
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000071216 Gene: ENSMUSG00000058881 AA Change: D441G
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: D441G
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000126629 Gene: ENSMUSG00000058881 AA Change: D441G
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp7b |
A |
T |
8: 22,518,706 (GRCm39) |
M44K |
probably benign |
Het |
Bad |
T |
C |
19: 6,928,702 (GRCm39) |
|
probably benign |
Het |
Bbs12 |
A |
G |
3: 37,373,390 (GRCm39) |
D61G |
probably damaging |
Het |
Bcr |
C |
T |
10: 74,989,769 (GRCm39) |
R722C |
probably damaging |
Het |
Carf |
C |
A |
1: 60,175,413 (GRCm39) |
|
probably null |
Het |
Ccdc181 |
A |
G |
1: 164,107,665 (GRCm39) |
E116G |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,915,855 (GRCm39) |
V706A |
probably benign |
Het |
Col9a1 |
T |
A |
1: 24,224,426 (GRCm39) |
S203T |
unknown |
Het |
Ctsl |
T |
C |
13: 64,512,961 (GRCm39) |
|
probably null |
Het |
Exosc7 |
A |
T |
9: 122,965,023 (GRCm39) |
E277D |
probably benign |
Het |
Fam20b |
A |
T |
1: 156,518,081 (GRCm39) |
W238R |
probably damaging |
Het |
Fanci |
A |
T |
7: 79,070,090 (GRCm39) |
H430L |
possibly damaging |
Het |
Fstl4 |
A |
G |
11: 53,077,277 (GRCm39) |
D678G |
probably damaging |
Het |
Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gm11569 |
T |
A |
11: 99,689,247 (GRCm39) |
|
probably benign |
Het |
Igfn1 |
G |
A |
1: 135,901,198 (GRCm39) |
R306W |
probably damaging |
Het |
Il6 |
C |
T |
5: 30,223,201 (GRCm39) |
|
probably benign |
Het |
Khdc1c |
T |
C |
1: 21,439,749 (GRCm39) |
L100P |
possibly damaging |
Het |
Kif18a |
G |
A |
2: 109,127,008 (GRCm39) |
R314H |
probably damaging |
Het |
Kif26b |
A |
C |
1: 178,701,703 (GRCm39) |
K694T |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,493,485 (GRCm39) |
T484A |
probably benign |
Het |
Lonrf1 |
T |
C |
8: 36,696,191 (GRCm39) |
|
probably null |
Het |
Man1a2 |
C |
T |
3: 100,563,387 (GRCm39) |
G169D |
probably benign |
Het |
Med6 |
G |
T |
12: 81,638,159 (GRCm39) |
D17E |
probably damaging |
Het |
Neb |
T |
C |
2: 52,110,236 (GRCm39) |
K204R |
probably damaging |
Het |
Nhlrc1 |
T |
A |
13: 47,167,252 (GRCm39) |
N335I |
possibly damaging |
Het |
Nlrp12 |
T |
C |
7: 3,289,313 (GRCm39) |
M400V |
probably benign |
Het |
Or7e173 |
G |
T |
9: 19,938,428 (GRCm39) |
H269N |
probably benign |
Het |
Or8k22 |
A |
T |
2: 86,163,408 (GRCm39) |
C97* |
probably null |
Het |
Pkhd1 |
C |
T |
1: 20,417,504 (GRCm39) |
S2549N |
probably benign |
Het |
Pramel26 |
A |
G |
4: 143,539,332 (GRCm39) |
F54L |
probably benign |
Het |
Rab4b |
A |
C |
7: 26,872,381 (GRCm39) |
L145R |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,577,011 (GRCm39) |
I526V |
probably benign |
Het |
Rel |
T |
C |
11: 23,694,304 (GRCm39) |
H309R |
probably benign |
Het |
Rnf2 |
G |
T |
1: 151,349,017 (GRCm39) |
N34K |
possibly damaging |
Het |
Serpina3m |
G |
T |
12: 104,355,386 (GRCm39) |
V18F |
possibly damaging |
Het |
Serpinb9c |
T |
C |
13: 33,334,310 (GRCm39) |
K244R |
probably benign |
Het |
Setbp1 |
T |
A |
18: 78,900,715 (GRCm39) |
Y984F |
probably damaging |
Het |
Slc12a5 |
T |
A |
2: 164,824,825 (GRCm39) |
M410K |
probably benign |
Het |
Smarca4 |
C |
T |
9: 21,570,127 (GRCm39) |
A710V |
probably damaging |
Het |
Snx19 |
C |
A |
9: 30,340,231 (GRCm39) |
D456E |
probably damaging |
Het |
Ssrp1 |
T |
A |
2: 84,870,280 (GRCm39) |
D101E |
probably benign |
Het |
Tax1bp1 |
A |
T |
6: 52,710,208 (GRCm39) |
E162D |
probably benign |
Het |
Tenm4 |
T |
A |
7: 96,446,599 (GRCm39) |
M823K |
possibly damaging |
Het |
Tesk1 |
A |
G |
4: 43,443,592 (GRCm39) |
D53G |
possibly damaging |
Het |
Tnrc6a |
T |
A |
7: 122,786,668 (GRCm39) |
S1577T |
probably benign |
Het |
Tpr |
A |
G |
1: 150,299,716 (GRCm39) |
I1270V |
probably benign |
Het |
Trp53bp2 |
T |
C |
1: 182,256,608 (GRCm39) |
|
probably null |
Het |
Ube4a |
A |
T |
9: 44,860,141 (GRCm39) |
I307N |
probably damaging |
Het |
Unc13b |
A |
G |
4: 43,170,156 (GRCm39) |
|
probably benign |
Het |
Vmn2r3 |
T |
C |
3: 64,166,927 (GRCm39) |
K735E |
probably damaging |
Het |
Vmn2r54 |
A |
G |
7: 12,366,080 (GRCm39) |
F285L |
probably benign |
Het |
Vmn2r81 |
T |
G |
10: 79,103,988 (GRCm39) |
S204A |
possibly damaging |
Het |
Washc1 |
A |
G |
17: 66,426,061 (GRCm39) |
D453G |
probably damaging |
Het |
Zfp329 |
T |
A |
7: 12,544,025 (GRCm39) |
I500L |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,785,777 (GRCm39) |
T257A |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCCTGAATCTGACACCATATG -3'
(R):5'- GAAGCACTCAGAGGACTTGC -3'
Sequencing Primer
(F):5'- CATATGTGGCTGGTGATGTGTCC -3'
(R):5'- ACTCAGAGGACTTGCCCTGG -3'
|
Posted On |
2018-10-18 |