Incidental Mutation 'IGL01343:Zfp516'
ID |
74915 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp516
|
Ensembl Gene |
ENSMUSG00000058881 |
Gene Name |
zinc finger protein 516 |
Synonyms |
Zfp26l, C330029B10Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.298)
|
Stock # |
IGL01343
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
82928788-83023439 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83011221 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1085
(T1085A)
|
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: T1085A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000071216 Gene: ENSMUSG00000058881 AA Change: T1085A
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: T1085A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126629 Gene: ENSMUSG00000058881 AA Change: T1085A
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 |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
T |
15: 91,033,416 (GRCm39) |
|
probably benign |
Het |
Adgrf1 |
T |
A |
17: 43,624,086 (GRCm39) |
F835L |
probably null |
Het |
Akp3 |
G |
T |
1: 87,054,858 (GRCm39) |
|
probably benign |
Het |
BC106179 |
G |
T |
16: 23,043,037 (GRCm39) |
|
probably benign |
Het |
Bysl |
C |
A |
17: 47,912,814 (GRCm39) |
M325I |
probably benign |
Het |
Cip2a |
A |
G |
16: 48,833,551 (GRCm39) |
I551V |
probably damaging |
Het |
Crnn |
A |
G |
3: 93,055,633 (GRCm39) |
R140G |
probably benign |
Het |
Cts8 |
T |
C |
13: 61,397,010 (GRCm39) |
|
probably benign |
Het |
Cxcr4 |
T |
C |
1: 128,517,292 (GRCm39) |
Y121C |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,812,150 (GRCm39) |
T691A |
probably benign |
Het |
Dhx30 |
A |
T |
9: 109,915,313 (GRCm39) |
F782I |
probably benign |
Het |
Efcab5 |
C |
T |
11: 77,020,756 (GRCm39) |
G655D |
probably damaging |
Het |
Eif2ak4 |
G |
A |
2: 118,252,570 (GRCm39) |
V381I |
probably benign |
Het |
Enpp3 |
A |
T |
10: 24,681,820 (GRCm39) |
Y295* |
probably null |
Het |
Fbxo28 |
T |
C |
1: 182,144,577 (GRCm39) |
E329G |
probably damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,850,127 (GRCm39) |
Q1191R |
probably benign |
Het |
Fmnl2 |
T |
A |
2: 53,013,557 (GRCm39) |
V972D |
probably damaging |
Het |
Fmr1 |
A |
G |
X: 67,731,901 (GRCm39) |
D22G |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,830,163 (GRCm39) |
T6886A |
possibly damaging |
Het |
Gadl1 |
A |
G |
9: 115,903,180 (GRCm39) |
*503W |
probably null |
Het |
Gpc6 |
A |
T |
14: 117,424,224 (GRCm39) |
K104I |
possibly damaging |
Het |
Hecw2 |
T |
A |
1: 53,866,135 (GRCm39) |
T1509S |
probably damaging |
Het |
Lonp1 |
A |
G |
17: 56,922,586 (GRCm39) |
L680P |
possibly damaging |
Het |
Lrrc66 |
A |
T |
5: 73,765,806 (GRCm39) |
N412K |
probably damaging |
Het |
Marco |
C |
T |
1: 120,422,469 (GRCm39) |
|
probably null |
Het |
Mdga2 |
T |
C |
12: 66,769,883 (GRCm39) |
T206A |
probably damaging |
Het |
Mogat2 |
C |
A |
7: 98,881,775 (GRCm39) |
A54S |
possibly damaging |
Het |
Myh15 |
T |
A |
16: 48,976,040 (GRCm39) |
D1369E |
probably benign |
Het |
Nckap1 |
A |
T |
2: 80,350,186 (GRCm39) |
S840T |
possibly damaging |
Het |
Ncor1 |
C |
T |
11: 62,216,312 (GRCm39) |
|
probably null |
Het |
Nfrkb |
C |
A |
9: 31,300,250 (GRCm39) |
L14I |
probably damaging |
Het |
Notch1 |
C |
A |
2: 26,362,917 (GRCm39) |
A950S |
probably benign |
Het |
Notch3 |
T |
C |
17: 32,362,410 (GRCm39) |
E1405G |
probably benign |
Het |
Nsd2 |
C |
A |
5: 34,000,922 (GRCm39) |
D146E |
probably damaging |
Het |
Oc90 |
T |
C |
15: 65,761,440 (GRCm39) |
T193A |
probably benign |
Het |
Or7c70 |
A |
T |
10: 78,683,431 (GRCm39) |
V106E |
probably damaging |
Het |
Or8g50 |
C |
A |
9: 39,649,011 (GRCm39) |
A300D |
probably damaging |
Het |
Or8k40 |
T |
A |
2: 86,584,843 (GRCm39) |
K80* |
probably null |
Het |
Orc2 |
A |
T |
1: 58,532,014 (GRCm39) |
|
probably null |
Het |
Pacsin2 |
T |
C |
15: 83,270,887 (GRCm39) |
H254R |
probably damaging |
Het |
Pif1 |
T |
A |
9: 65,496,844 (GRCm39) |
M319K |
probably damaging |
Het |
Prag1 |
G |
A |
8: 36,570,200 (GRCm39) |
R261H |
possibly damaging |
Het |
Ptprq |
G |
A |
10: 107,474,700 (GRCm39) |
T1335I |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,490,399 (GRCm39) |
Y3812H |
probably damaging |
Het |
Sgo2b |
G |
A |
8: 64,380,349 (GRCm39) |
Q828* |
probably null |
Het |
Skint6 |
A |
G |
4: 113,140,823 (GRCm39) |
V6A |
probably benign |
Het |
Slc16a13 |
A |
G |
11: 70,111,340 (GRCm39) |
I55T |
probably damaging |
Het |
Slc22a3 |
A |
T |
17: 12,644,516 (GRCm39) |
W490R |
probably damaging |
Het |
Speer4b |
G |
T |
5: 27,702,881 (GRCm39) |
H208N |
probably benign |
Het |
Tas2r124 |
T |
C |
6: 132,732,378 (GRCm39) |
L229S |
probably damaging |
Het |
Tlr4 |
T |
C |
4: 66,752,124 (GRCm39) |
|
probably benign |
Het |
Tmed1 |
G |
T |
9: 21,421,369 (GRCm39) |
T35K |
probably damaging |
Het |
Tubgcp5 |
C |
A |
7: 55,445,779 (GRCm39) |
|
probably benign |
Het |
Ugt2b34 |
A |
G |
5: 87,052,247 (GRCm39) |
S250P |
possibly damaging |
Het |
Znfx1 |
T |
C |
2: 166,879,283 (GRCm39) |
I1698V |
probably benign |
Het |
Zswim8 |
G |
T |
14: 20,763,409 (GRCm39) |
W385C |
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 |
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 |
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 |
|
Posted On |
2013-10-07 |