Incidental Mutation 'R6877:Zfp516'
ID |
536493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp516
|
Ensembl Gene |
ENSMUSG00000058881 |
Gene Name |
zinc finger protein 516 |
Synonyms |
Zfp26l, C330029B10Rik |
MMRRC Submission |
044973-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
R6877 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
82928788-83023439 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82973916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 38
(I38T)
|
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: I38T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000071216 Gene: ENSMUSG00000058881 AA Change: I38T
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: I38T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000126629 Gene: ENSMUSG00000058881 AA Change: I38T
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: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
94% (47/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
T |
C |
8: 44,078,274 (GRCm39) |
H650R |
probably benign |
Het |
Adgrl2 |
T |
C |
3: 148,522,922 (GRCm39) |
Y1367C |
probably damaging |
Het |
Aqr |
A |
T |
2: 113,947,052 (GRCm39) |
C1043* |
probably null |
Het |
Arhgef17 |
A |
G |
7: 100,530,548 (GRCm39) |
S1413P |
probably damaging |
Het |
AU041133 |
A |
G |
10: 81,987,405 (GRCm39) |
T352A |
probably benign |
Het |
Bcl7a |
A |
G |
5: 123,489,958 (GRCm39) |
T41A |
probably damaging |
Het |
Btbd10 |
A |
T |
7: 112,921,967 (GRCm39) |
F298Y |
probably damaging |
Het |
Ccdc57 |
G |
A |
11: 120,764,528 (GRCm39) |
T749I |
probably benign |
Het |
Clcnkb |
T |
C |
4: 141,132,143 (GRCm39) |
N646S |
probably benign |
Het |
Dcst1 |
T |
C |
3: 89,257,667 (GRCm39) |
D701G |
probably benign |
Het |
Dnah14 |
C |
A |
1: 181,455,997 (GRCm39) |
T1001K |
possibly damaging |
Het |
Dnah8 |
G |
T |
17: 30,965,933 (GRCm39) |
G2422W |
probably damaging |
Het |
Dyrk2 |
A |
T |
10: 118,696,328 (GRCm39) |
I310N |
probably damaging |
Het |
Eif5b |
A |
T |
1: 38,089,320 (GRCm39) |
N1099Y |
probably damaging |
Het |
Elp2 |
T |
A |
18: 24,768,033 (GRCm39) |
N762K |
probably benign |
Het |
Esco2 |
A |
G |
14: 66,068,494 (GRCm39) |
V272A |
probably benign |
Het |
Fat3 |
A |
C |
9: 15,910,564 (GRCm39) |
S1813A |
probably benign |
Het |
Igf2r |
A |
G |
17: 12,916,228 (GRCm39) |
V1710A |
probably damaging |
Het |
Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
Kcnk5 |
T |
C |
14: 20,194,784 (GRCm39) |
T185A |
possibly damaging |
Het |
Litafd |
G |
A |
16: 8,501,173 (GRCm39) |
V10I |
unknown |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Nol4 |
A |
T |
18: 22,852,186 (GRCm39) |
C460S |
probably benign |
Het |
Ntaq1 |
C |
A |
15: 58,017,074 (GRCm39) |
P163Q |
probably damaging |
Het |
Or10g3b |
T |
A |
14: 52,587,270 (GRCm39) |
I78F |
possibly damaging |
Het |
Or4f14b |
T |
C |
2: 111,775,184 (GRCm39) |
I206V |
probably benign |
Het |
Ovch2 |
G |
A |
7: 107,389,315 (GRCm39) |
A371V |
probably benign |
Het |
Pcdhb4 |
A |
G |
18: 37,442,625 (GRCm39) |
D645G |
probably damaging |
Het |
Pcnt |
A |
C |
10: 76,269,851 (GRCm39) |
S207A |
possibly damaging |
Het |
Pex1 |
A |
T |
5: 3,685,505 (GRCm39) |
Q1211L |
probably benign |
Het |
Pnn |
A |
G |
12: 59,115,553 (GRCm39) |
E99G |
probably damaging |
Het |
Prkrip1 |
A |
T |
5: 136,218,478 (GRCm39) |
|
probably null |
Het |
Rnf133 |
A |
G |
6: 23,649,486 (GRCm39) |
F191L |
probably benign |
Het |
Scn10a |
T |
C |
9: 119,438,848 (GRCm39) |
T1674A |
probably damaging |
Het |
Sdccag8 |
G |
A |
1: 176,839,501 (GRCm39) |
V682M |
probably damaging |
Het |
Spi1 |
T |
C |
2: 90,944,741 (GRCm39) |
L162P |
probably damaging |
Het |
Sptan1 |
C |
G |
2: 29,920,985 (GRCm39) |
N2432K |
probably damaging |
Het |
Stx2 |
A |
G |
5: 129,064,884 (GRCm39) |
V271A |
probably benign |
Het |
Sumf2 |
G |
A |
5: 129,878,867 (GRCm39) |
D68N |
probably damaging |
Het |
Tsc22d4 |
A |
G |
5: 137,760,855 (GRCm39) |
E92G |
possibly damaging |
Het |
Ube3c |
G |
T |
5: 29,792,316 (GRCm39) |
R37L |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,002,814 (GRCm39) |
S1446P |
probably damaging |
Het |
Veph1 |
T |
C |
3: 66,162,505 (GRCm39) |
N51S |
probably damaging |
Het |
Vmn1r82 |
T |
C |
7: 12,039,290 (GRCm39) |
F70L |
possibly damaging |
Het |
Vmn2r92 |
A |
G |
17: 18,389,084 (GRCm39) |
N466S |
probably damaging |
Het |
Vwf |
T |
A |
6: 125,634,164 (GRCm39) |
V2153D |
possibly damaging |
Het |
Yeats2 |
A |
G |
16: 19,998,344 (GRCm39) |
T300A |
probably benign |
Het |
Zc3h12d |
G |
T |
10: 7,715,735 (GRCm39) |
R46L |
probably damaging |
Het |
Zic5 |
G |
A |
14: 122,697,100 (GRCm39) |
T505I |
unknown |
Het |
Zpld1 |
C |
T |
16: 55,072,034 (GRCm39) |
G75E |
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 |
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'- ACATGCGCGTACTCATCACAG -3'
(R):5'- GTGCCCCTGAATCAGAGTTC -3'
Sequencing Primer
(F):5'- GCAGGAACCCCTCTAAGAATGG -3'
(R):5'- CTGAATCAGAGTTCCTGTCCGG -3'
|
Posted On |
2018-10-18 |