Incidental Mutation 'R8362:Zfp516'
ID |
646028 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp516
|
Ensembl Gene |
ENSMUSG00000058881 |
Gene Name |
zinc finger protein 516 |
Synonyms |
Zfp26l, C330029B10Rik |
MMRRC Submission |
067808-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R8362 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
82928788-83023439 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83005019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 641
(L641P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071216
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071233]
[ENSMUST00000171238]
|
AlphaFold |
Q7TSH3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071233
AA Change: L641P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000071216 Gene: ENSMUSG00000058881 AA Change: L641P
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: L641P
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000126629 Gene: ENSMUSG00000058881 AA Change: L641P
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
T |
A |
19: 8,867,395 (GRCm39) |
S65T |
probably damaging |
Het |
Abcb1b |
A |
T |
5: 8,848,758 (GRCm39) |
N6I |
probably benign |
Het |
Abr |
A |
T |
11: 76,369,954 (GRCm39) |
I145N |
probably benign |
Het |
Alcam |
A |
T |
16: 52,115,387 (GRCm39) |
Y244N |
probably damaging |
Het |
Amotl1 |
G |
A |
9: 14,556,218 (GRCm39) |
A36V |
probably benign |
Het |
Ankrd11 |
A |
T |
8: 123,618,797 (GRCm39) |
L1685Q |
probably damaging |
Het |
Ascc3 |
A |
C |
10: 50,518,692 (GRCm39) |
Q332H |
possibly damaging |
Het |
Cdc42bpa |
C |
T |
1: 179,989,690 (GRCm39) |
L1720F |
probably damaging |
Het |
Clec4b1 |
T |
C |
6: 123,027,602 (GRCm39) |
S20P |
probably benign |
Het |
Cpt1a |
C |
T |
19: 3,420,744 (GRCm39) |
R401* |
probably null |
Het |
Dnah12 |
T |
A |
14: 26,576,788 (GRCm39) |
Y3013N |
probably damaging |
Het |
Dop1a |
G |
A |
9: 86,395,941 (GRCm39) |
R801H |
probably benign |
Het |
Flywch1 |
G |
T |
17: 23,975,682 (GRCm39) |
T520N |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 8,001,207 (GRCm39) |
S190P |
unknown |
Het |
Gabra1 |
G |
T |
11: 42,066,831 (GRCm39) |
Q28K |
probably benign |
Het |
Gria2 |
T |
C |
3: 80,615,197 (GRCm39) |
M428V |
possibly damaging |
Het |
H13 |
T |
A |
2: 152,528,311 (GRCm39) |
I220N |
unknown |
Het |
Hars2 |
T |
A |
18: 36,923,228 (GRCm39) |
F412L |
probably benign |
Het |
Hecw2 |
A |
T |
1: 54,079,650 (GRCm39) |
M1K |
probably null |
Het |
Homer1 |
T |
A |
13: 93,502,797 (GRCm39) |
S192T |
unknown |
Het |
Itga2b |
T |
A |
11: 102,352,189 (GRCm39) |
D464V |
probably damaging |
Het |
Ivd |
T |
A |
2: 118,708,422 (GRCm39) |
C379S |
probably damaging |
Het |
Khdc3 |
A |
T |
9: 73,010,848 (GRCm39) |
N233Y |
possibly damaging |
Het |
Lrrc37 |
A |
G |
11: 103,506,163 (GRCm39) |
V1935A |
probably benign |
Het |
Lrrfip1 |
T |
A |
1: 90,981,423 (GRCm39) |
L15Q |
probably damaging |
Het |
Megf8 |
C |
A |
7: 25,039,943 (GRCm39) |
P986Q |
probably benign |
Het |
Morc2b |
G |
T |
17: 33,357,295 (GRCm39) |
T159K |
possibly damaging |
Het |
Nudt5 |
A |
G |
2: 5,858,322 (GRCm39) |
|
probably null |
Het |
Or6c211 |
G |
T |
10: 129,506,100 (GRCm39) |
A96E |
possibly damaging |
Het |
Paqr5 |
A |
T |
9: 61,879,945 (GRCm39) |
Y116* |
probably null |
Het |
Pcnx1 |
A |
C |
12: 82,013,830 (GRCm39) |
S623R |
|
Het |
Polr1a |
T |
C |
6: 71,941,651 (GRCm39) |
V1053A |
probably benign |
Het |
Ptprt |
A |
T |
2: 161,393,667 (GRCm39) |
D1252E |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,620,246 (GRCm39) |
S189P |
probably damaging |
Het |
Rasal1 |
C |
T |
5: 120,813,485 (GRCm39) |
R620W |
probably damaging |
Het |
Rbms1 |
C |
T |
2: 60,793,083 (GRCm39) |
M9I |
probably benign |
Het |
Ska3 |
T |
C |
14: 58,054,105 (GRCm39) |
N282D |
probably benign |
Het |
Slc25a24 |
T |
A |
3: 109,065,878 (GRCm39) |
I245N |
possibly damaging |
Het |
Slc26a4 |
C |
T |
12: 31,594,506 (GRCm39) |
V281I |
probably benign |
Het |
Smg8 |
A |
T |
11: 86,968,881 (GRCm39) |
Y958* |
probably null |
Het |
Spata31 |
A |
G |
13: 65,070,044 (GRCm39) |
T731A |
possibly damaging |
Het |
Spg11 |
G |
T |
2: 121,948,842 (GRCm39) |
A3D |
unknown |
Het |
Srgap1 |
A |
G |
10: 121,691,383 (GRCm39) |
Y284H |
possibly damaging |
Het |
Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,931,946 (GRCm39) |
T2160A |
probably damaging |
Het |
Tprg1l |
G |
C |
4: 154,244,815 (GRCm39) |
T91S |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,689,650 (GRCm39) |
V5071I |
probably damaging |
Het |
Vmn2r60 |
T |
A |
7: 41,844,954 (GRCm39) |
N772K |
probably damaging |
Het |
Vmn2r81 |
T |
A |
10: 79,103,283 (GRCm39) |
W159R |
probably benign |
Het |
Vmn2r93 |
G |
A |
17: 18,546,353 (GRCm39) |
V742I |
probably benign |
Het |
Zc3h13 |
C |
A |
14: 75,561,909 (GRCm39) |
H654N |
unknown |
Het |
Zfp623 |
T |
C |
15: 75,819,488 (GRCm39) |
V148A |
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 |
R8245:Zfp516
|
UTSW |
18 |
82,974,458 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GCACCTCCTGAGAAGTGGTTAAC -3'
(R):5'- GCAAATCGGACAGCTTTTCTTTAG -3'
Sequencing Primer
(F):5'- GTGGTTAACTTCCCTTTTACATTTTG -3'
(R):5'- TTTAGAATGCCCGGCCTG -3'
|
Posted On |
2020-09-02 |