Incidental Mutation 'R0715:Zfp516'
| ID |
62845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp516
|
| Ensembl Gene |
ENSMUSG00000058881 |
| Gene Name |
zinc finger protein 516 |
| Synonyms |
Zfp26l, C330029B10Rik |
| MMRRC Submission |
038898-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R0715 (G1)
|
| Quality Score |
117 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
82928788-83023439 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83005388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 764
(Y764C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071233]
[ENSMUST00000171238]
|
| AlphaFold |
Q7TSH3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071233
AA Change: Y764C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: Y764C
| 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: Y764C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: Y764C
| 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 |
0.7063 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
A |
G |
11: 58,179,176 (GRCm39) |
Y170C |
probably damaging |
Het |
| Adcy2 |
C |
T |
13: 69,036,161 (GRCm39) |
V167I |
probably benign |
Het |
| Agl |
A |
G |
3: 116,545,825 (GRCm39) |
Y1324H |
probably damaging |
Het |
| Arhgef37 |
G |
T |
18: 61,641,860 (GRCm39) |
Q170K |
probably damaging |
Het |
| Asah2 |
A |
G |
19: 31,994,176 (GRCm39) |
S390P |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,932,068 (GRCm39) |
H240Q |
probably benign |
Het |
| Btbd16 |
T |
A |
7: 130,390,557 (GRCm39) |
N151K |
probably damaging |
Het |
| Ccdc73 |
T |
A |
2: 104,803,499 (GRCm39) |
|
probably benign |
Het |
| Cecr2 |
G |
T |
6: 120,735,159 (GRCm39) |
M21I |
probably benign |
Het |
| Ckap2l |
T |
C |
2: 129,127,636 (GRCm39) |
T181A |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,629,879 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,252,576 (GRCm39) |
C1933S |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,972,074 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,611,706 (GRCm39) |
L516P |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 16,286,419 (GRCm39) |
T1035A |
probably benign |
Het |
| Fzd8 |
A |
G |
18: 9,212,947 (GRCm39) |
T10A |
unknown |
Het |
| Gm9631 |
C |
A |
11: 121,833,328 (GRCm39) |
C636F |
probably damaging |
Het |
| Gp1ba |
A |
G |
11: 70,531,614 (GRCm39) |
|
probably benign |
Het |
| Gsk3a |
A |
G |
7: 24,931,134 (GRCm39) |
V277A |
probably damaging |
Het |
| H2-M1 |
T |
A |
17: 36,981,120 (GRCm39) |
|
probably benign |
Het |
| Hesx1 |
T |
A |
14: 26,722,809 (GRCm39) |
W45R |
probably damaging |
Het |
| Il23r |
T |
A |
6: 67,463,317 (GRCm39) |
M59L |
possibly damaging |
Het |
| Insc |
T |
A |
7: 114,444,312 (GRCm39) |
V433E |
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,196,053 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
T |
A |
13: 46,966,299 (GRCm39) |
E436V |
probably damaging |
Het |
| Liph |
A |
G |
16: 21,814,100 (GRCm39) |
F7S |
probably benign |
Het |
| Lpar2 |
T |
C |
8: 70,276,823 (GRCm39) |
V204A |
probably damaging |
Het |
| Lrfn4 |
T |
A |
19: 4,662,668 (GRCm39) |
|
probably null |
Het |
| Man2b2 |
A |
T |
5: 36,983,402 (GRCm39) |
D182E |
probably benign |
Het |
| Mmp27 |
T |
C |
9: 7,581,156 (GRCm39) |
|
probably benign |
Het |
| Mrm1 |
A |
G |
11: 84,705,639 (GRCm39) |
|
probably benign |
Het |
| Mtx3 |
T |
C |
13: 92,986,869 (GRCm39) |
S271P |
probably damaging |
Het |
| Myh11 |
A |
T |
16: 14,044,480 (GRCm39) |
M641K |
possibly damaging |
Het |
| Necab2 |
A |
G |
8: 120,197,670 (GRCm39) |
D332G |
probably damaging |
Het |
| Ngfr |
A |
G |
11: 95,465,065 (GRCm39) |
I261T |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,345,757 (GRCm39) |
E617G |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,941,306 (GRCm39) |
T4505K |
probably benign |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Or8b57 |
A |
G |
9: 40,003,807 (GRCm39) |
Y148H |
probably damaging |
Het |
| Osbpl11 |
T |
A |
16: 33,062,100 (GRCm39) |
|
probably benign |
Het |
| Otof |
A |
G |
5: 30,552,041 (GRCm39) |
V301A |
probably damaging |
Het |
| Phf3 |
A |
T |
1: 30,850,919 (GRCm39) |
L1145Q |
probably damaging |
Het |
| Phospho2 |
T |
A |
2: 69,626,540 (GRCm39) |
I232N |
possibly damaging |
Het |
| Pomgnt2 |
T |
A |
9: 121,811,127 (GRCm39) |
K551N |
probably damaging |
Het |
| Ptchd3 |
A |
G |
11: 121,721,984 (GRCm39) |
T286A |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,331,976 (GRCm39) |
D2396G |
probably damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,373,341 (GRCm39) |
E836G |
possibly damaging |
Het |
| Simc1 |
G |
T |
13: 54,673,468 (GRCm39) |
M605I |
possibly damaging |
Het |
| Slc12a3 |
G |
A |
8: 95,056,061 (GRCm39) |
E66K |
possibly damaging |
Het |
| Spg11 |
T |
C |
2: 121,915,464 (GRCm39) |
N1060S |
probably benign |
Het |
| Supt5 |
A |
T |
7: 28,028,462 (GRCm39) |
W178R |
probably damaging |
Het |
| Tmem41a |
G |
T |
16: 21,756,740 (GRCm39) |
F126L |
probably benign |
Het |
| Ube2m |
T |
A |
7: 12,771,553 (GRCm39) |
Q35L |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,086,211 (GRCm39) |
D658G |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,238,373 (GRCm39) |
C456S |
probably benign |
Het |
| Vmn2r81 |
T |
A |
10: 79,104,434 (GRCm39) |
D352E |
probably damaging |
Het |
| Zswim7 |
A |
G |
11: 62,167,473 (GRCm39) |
|
probably benign |
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 |
|
|
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'- CGATTTGCACAAGGAGCACTGC -3'
(R):5'- ACCAACACGGGTTATCACTGAGGG -3'
Sequencing Primer
(F):5'- CTGCGGGGTAGGAAAGC -3'
(R):5'- ATATCCATCGGGGCCAGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation