Incidental Mutation 'R0466:Zfp516'
ID |
41668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp516
|
Ensembl Gene |
ENSMUSG00000058881 |
Gene Name |
zinc finger protein 516 |
Synonyms |
Zfp26l, C330029B10Rik |
MMRRC Submission |
038666-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R0466 (G1)
|
Quality Score |
184 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
82928788-83023439 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 82975579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126629
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071233]
[ENSMUST00000171238]
|
AlphaFold |
Q7TSH3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000071233
|
SMART Domains |
Protein: ENSMUSP00000071216 Gene: ENSMUSG00000058881
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 null
Transcript: ENSMUST00000171238
|
SMART Domains |
Protein: ENSMUSP00000126629 Gene: ENSMUSG00000058881
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
97% (63/65) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
C |
15: 59,887,321 (GRCm39) |
Y373C |
probably benign |
Het |
Abca12 |
T |
G |
1: 71,341,822 (GRCm39) |
Q1046H |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,714,415 (GRCm39) |
F956S |
probably benign |
Het |
Alk |
A |
G |
17: 72,212,152 (GRCm39) |
V797A |
possibly damaging |
Het |
Ascl2 |
A |
G |
7: 142,522,217 (GRCm39) |
L77P |
probably benign |
Het |
Aspm |
A |
T |
1: 139,405,639 (GRCm39) |
I1509F |
probably damaging |
Het |
AY358078 |
A |
T |
14: 52,043,089 (GRCm39) |
Y259F |
unknown |
Het |
Cbs |
G |
A |
17: 31,835,126 (GRCm39) |
A450V |
probably benign |
Het |
Cdh11 |
T |
A |
8: 103,396,690 (GRCm39) |
Q213L |
possibly damaging |
Het |
Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
Cfap126 |
T |
C |
1: 170,953,769 (GRCm39) |
I113T |
probably damaging |
Het |
Clk4 |
A |
G |
11: 51,158,155 (GRCm39) |
D53G |
possibly damaging |
Het |
Dab1 |
T |
C |
4: 104,577,747 (GRCm39) |
L272P |
probably benign |
Het |
Dmtf1 |
A |
T |
5: 9,182,454 (GRCm39) |
|
probably null |
Het |
Dph5 |
A |
C |
3: 115,722,359 (GRCm39) |
D279A |
probably benign |
Het |
Fbxw19 |
T |
A |
9: 109,307,717 (GRCm39) |
T461S |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gcg |
T |
C |
2: 62,307,282 (GRCm39) |
D93G |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,901,365 (GRCm39) |
T395A |
probably damaging |
Het |
H2-Ob |
A |
G |
17: 34,461,633 (GRCm39) |
D124G |
probably damaging |
Het |
Itga8 |
G |
T |
2: 12,237,697 (GRCm39) |
A341E |
probably damaging |
Het |
Itih3 |
A |
G |
14: 30,634,831 (GRCm39) |
|
probably null |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Kif2c |
C |
T |
4: 117,029,489 (GRCm39) |
R215Q |
possibly damaging |
Het |
Letm1 |
A |
C |
5: 33,919,074 (GRCm39) |
|
probably benign |
Het |
Lypd8l |
T |
C |
11: 58,503,331 (GRCm39) |
|
probably benign |
Het |
Mmp3 |
A |
G |
9: 7,450,165 (GRCm39) |
D299G |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Nfib |
A |
C |
4: 82,416,775 (GRCm39) |
Y87D |
probably damaging |
Het |
Nlrp4a |
T |
C |
7: 26,162,045 (GRCm39) |
|
probably benign |
Het |
Nsmce1 |
A |
T |
7: 125,071,408 (GRCm39) |
|
probably benign |
Het |
Odad2 |
T |
A |
18: 7,286,758 (GRCm39) |
I158F |
probably benign |
Het |
Or7g12 |
T |
G |
9: 18,899,551 (GRCm39) |
V89G |
probably benign |
Het |
Or7g27 |
A |
T |
9: 19,250,475 (GRCm39) |
T240S |
probably damaging |
Het |
Patj |
C |
A |
4: 98,576,393 (GRCm39) |
Q1193K |
probably damaging |
Het |
Pcdhb5 |
G |
A |
18: 37,455,596 (GRCm39) |
V659M |
probably damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pmis2 |
T |
C |
7: 30,370,817 (GRCm39) |
I46V |
probably benign |
Het |
Ppp2r5e |
A |
G |
12: 75,509,216 (GRCm39) |
|
probably benign |
Het |
Prom2 |
A |
G |
2: 127,370,709 (GRCm39) |
F825S |
probably damaging |
Het |
Rab11fip2 |
G |
A |
19: 59,894,675 (GRCm39) |
A524V |
possibly damaging |
Het |
Rb1cc1 |
A |
C |
1: 6,333,491 (GRCm39) |
|
probably null |
Het |
Rwdd3 |
G |
C |
3: 120,952,668 (GRCm39) |
Q180E |
possibly damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Sgcg |
A |
T |
14: 61,459,135 (GRCm39) |
C265S |
probably damaging |
Het |
Slc16a3 |
T |
C |
11: 120,848,878 (GRCm39) |
S445P |
possibly damaging |
Het |
Slc22a3 |
G |
A |
17: 12,677,380 (GRCm39) |
Q263* |
probably null |
Het |
Sorcs3 |
A |
G |
19: 48,736,758 (GRCm39) |
T694A |
probably benign |
Het |
Tbc1d15 |
T |
C |
10: 115,055,077 (GRCm39) |
K322E |
probably damaging |
Het |
Tecta |
G |
T |
9: 42,284,369 (GRCm39) |
F905L |
probably benign |
Het |
Tmeff1 |
A |
G |
4: 48,636,853 (GRCm39) |
I184V |
possibly damaging |
Het |
Ttf1 |
A |
G |
2: 28,955,419 (GRCm39) |
H261R |
possibly damaging |
Het |
Ttll6 |
T |
A |
11: 96,036,417 (GRCm39) |
L349M |
probably damaging |
Het |
Ubac2 |
G |
A |
14: 122,211,031 (GRCm39) |
V134M |
probably damaging |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn2r25 |
T |
G |
6: 123,829,008 (GRCm39) |
I89L |
probably benign |
Het |
Vmn2r6 |
A |
C |
3: 64,463,723 (GRCm39) |
F370L |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,445,748 (GRCm39) |
Y412* |
probably null |
Het |
Zfp142 |
A |
G |
1: 74,624,570 (GRCm39) |
S85P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGTCCTCTGAGTGCTTCGAGTG -3'
(R):5'- TGACAGCATCAGTCAGACCAGCAG -3'
Sequencing Primer
(F):5'- ACCAGATGGTGCTCCACTC -3'
(R):5'- CCAGAAGGTGCAGGATACCC -3'
|
Posted On |
2013-05-23 |