Incidental Mutation 'R4378:Zfp516'
| ID |
325219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp516
|
| Ensembl Gene |
ENSMUSG00000058881 |
| Gene Name |
zinc finger protein 516 |
| Synonyms |
Zfp26l, C330029B10Rik |
| MMRRC Submission |
041121-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
R4378 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
82928788-83023439 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83005305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 736
(D736E)
|
| 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: D736E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000071216
Gene: ENSMUSG00000058881
AA Change: D736E
| 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: D736E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126629
Gene: ENSMUSG00000058881
AA Change: D736E
| 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 |
0.0897 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (47/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,243,644 (GRCm39) |
K1836E |
probably benign |
Het |
| Adora1 |
A |
G |
1: 134,130,948 (GRCm39) |
F241S |
probably damaging |
Het |
| Akt1s1 |
C |
T |
7: 44,503,384 (GRCm39) |
T168M |
probably damaging |
Het |
| Amigo1 |
C |
T |
3: 108,099,069 (GRCm39) |
|
probably benign |
Het |
| Amigo2 |
A |
G |
15: 97,143,859 (GRCm39) |
F188L |
possibly damaging |
Het |
| Armc2 |
T |
C |
10: 41,869,078 (GRCm39) |
T29A |
possibly damaging |
Het |
| Axl |
G |
A |
7: 25,458,262 (GRCm39) |
A822V |
probably benign |
Het |
| Borcs5 |
T |
C |
6: 134,621,292 (GRCm39) |
V21A |
probably benign |
Het |
| Cdc42ep3 |
A |
G |
17: 79,642,408 (GRCm39) |
S171P |
probably benign |
Het |
| Cmas |
T |
C |
6: 142,718,011 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
A |
G |
17: 32,887,003 (GRCm39) |
N158S |
probably null |
Het |
| Dnah6 |
G |
T |
6: 73,095,009 (GRCm39) |
N2139K |
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,557,286 (GRCm39) |
H409L |
possibly damaging |
Het |
| Exoc1l |
A |
G |
5: 76,648,380 (GRCm39) |
K62R |
probably damaging |
Het |
| Exoc4 |
T |
A |
6: 33,792,622 (GRCm39) |
V584E |
probably damaging |
Het |
| Gm9116 |
A |
G |
3: 93,817,786 (GRCm39) |
|
noncoding transcript |
Het |
| Gxylt2 |
A |
G |
6: 100,710,161 (GRCm39) |
S101G |
probably benign |
Het |
| Hsph1 |
C |
A |
5: 149,559,472 (GRCm39) |
E24* |
probably null |
Het |
| Ighv1-56 |
C |
T |
12: 115,206,568 (GRCm39) |
E50K |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrriq1 |
A |
T |
10: 103,038,225 (GRCm39) |
D859E |
probably damaging |
Het |
| Mapk7 |
G |
A |
11: 61,384,493 (GRCm39) |
S71L |
probably damaging |
Het |
| Nars1 |
A |
G |
18: 64,634,424 (GRCm39) |
Y500H |
probably damaging |
Het |
| Or1j1 |
T |
C |
2: 36,702,481 (GRCm39) |
M208V |
probably benign |
Het |
| Or5d20-ps1 |
G |
T |
2: 87,931,829 (GRCm39) |
N167K |
unknown |
Het |
| Phc1 |
T |
C |
6: 122,311,966 (GRCm39) |
N64S |
possibly damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,159,450 (GRCm39) |
N180K |
possibly damaging |
Het |
| Primpol |
G |
A |
8: 47,029,218 (GRCm39) |
|
probably benign |
Het |
| Prtg |
T |
C |
9: 72,750,042 (GRCm39) |
S149P |
possibly damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,741 (GRCm39) |
S1916G |
probably damaging |
Het |
| Rps6ka5 |
A |
T |
12: 100,564,196 (GRCm39) |
Y218N |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,899,833 (GRCm39) |
D1278G |
possibly damaging |
Het |
| Sirt1 |
C |
T |
10: 63,174,728 (GRCm39) |
A8T |
probably benign |
Het |
| Sobp |
C |
T |
10: 42,897,300 (GRCm39) |
V762I |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,915,581 (GRCm39) |
S1994P |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,347,636 (GRCm39) |
I87T |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,278,004 (GRCm39) |
Y1168C |
probably damaging |
Het |
| Trhr |
A |
G |
15: 44,061,023 (GRCm39) |
Y181C |
probably damaging |
Het |
| Ube4b |
C |
T |
4: 149,468,255 (GRCm39) |
D174N |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,137,751 (GRCm39) |
H1067Y |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,288,469 (GRCm39) |
I344T |
possibly damaging |
Het |
| Vmn2r88 |
T |
A |
14: 51,650,746 (GRCm39) |
L153* |
probably null |
Het |
| Zfp612 |
G |
T |
8: 110,815,683 (GRCm39) |
V258F |
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 |
|
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'- AGATGCCAGCATTTCACCCC -3'
(R):5'- GAATGCTCTTGTGGCCACTG -3'
Sequencing Primer
(F):5'- ACTACTGACCGGGTAGACTTC -3'
(R):5'- ACTGGGCTGAGTCCAAGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation