Incidental Mutation 'R3972:Zfp266'
| ID |
311028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp266
|
| Ensembl Gene |
ENSMUSG00000060510 |
| Gene Name |
zinc finger protein 266 |
| Synonyms |
5330440G10Rik, 5730601F06Rik |
| MMRRC Submission |
040840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R3972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
20406364-20432713 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20411446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 244
(S244P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134217
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068296]
[ENSMUST00000174462]
[ENSMUST00000215908]
|
| AlphaFold |
E9Q2S7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068296
AA Change: S244P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066012
Gene: ENSMUSG00000060510
AA Change: S244P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
41 |
101 |
1.4e-27 |
SMART |
|
internal_repeat_1
|
138 |
318 |
2.7e-16 |
PROSPERO |
|
ZnF_C2H2
|
343 |
365 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
371 |
393 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
427 |
449 |
2.47e-5 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
2.09e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174462
AA Change: S244P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134217
Gene: ENSMUSG00000060510
AA Change: S244P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
41 |
101 |
1.4e-27 |
SMART |
|
internal_repeat_1
|
138 |
318 |
2.7e-16 |
PROSPERO |
|
ZnF_C2H2
|
343 |
365 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
371 |
393 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
399 |
421 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
427 |
449 |
2.47e-5 |
SMART |
|
ZnF_C2H2
|
455 |
477 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
483 |
505 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
511 |
533 |
5.81e-2 |
SMART |
|
ZnF_C2H2
|
539 |
561 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
567 |
589 |
2.09e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180846
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215908
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing many tandem zinc-finger motifs. Zinc fingers are protein or nucleic acid-binding domains, and may be involved in a variety of functions, including regulation of transcription. This gene is located in a cluster of similar genes encoding zinc finger proteins on chromosome 19. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
G |
17: 72,292,442 (GRCm39) |
D512A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,720,393 (GRCm39) |
F477S |
probably damaging |
Het |
| C7 |
C |
T |
15: 5,037,133 (GRCm39) |
V582I |
possibly damaging |
Het |
| Cldn20 |
A |
G |
17: 3,582,914 (GRCm39) |
N29S |
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,685,943 (GRCm39) |
D131V |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,707,344 (GRCm39) |
K248R |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fgf1 |
T |
C |
18: 38,980,147 (GRCm39) |
T76A |
probably benign |
Het |
| Gucy2c |
C |
T |
6: 136,685,364 (GRCm39) |
R859K |
probably damaging |
Het |
| Irf2bp1 |
T |
A |
7: 18,739,369 (GRCm39) |
D336E |
possibly damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,513 (GRCm39) |
H158R |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,881,210 (GRCm39) |
C2814R |
possibly damaging |
Het |
| Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mrpl16 |
A |
G |
19: 11,750,239 (GRCm39) |
N41S |
probably benign |
Het |
| Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,194,991 (GRCm39) |
C29F |
probably benign |
Het |
| Or4d11 |
G |
T |
19: 12,013,383 (GRCm39) |
T241N |
probably damaging |
Het |
| Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
| Otp |
T |
G |
13: 95,019,692 (GRCm39) |
L181R |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,117,513 (GRCm39) |
T592A |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,739 (GRCm39) |
Y1579H |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,224 (GRCm39) |
V864A |
probably benign |
Het |
| Reln |
A |
T |
5: 22,183,999 (GRCm39) |
F1667I |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,463,852 (GRCm39) |
F45I |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,248,649 (GRCm39) |
N422K |
probably damaging |
Het |
| Slc17a7 |
A |
G |
7: 44,819,334 (GRCm39) |
I137V |
possibly damaging |
Het |
| Tet1 |
T |
A |
10: 62,649,505 (GRCm39) |
E67D |
probably damaging |
Het |
| Tpcn1 |
C |
A |
5: 120,691,817 (GRCm39) |
|
probably null |
Het |
| Trav9-4 |
T |
C |
14: 53,913,877 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Trmt1l |
A |
G |
1: 151,309,634 (GRCm39) |
N106D |
possibly damaging |
Het |
| Ttll12 |
A |
T |
15: 83,466,297 (GRCm39) |
L388Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubfd1 |
T |
G |
7: 121,666,656 (GRCm39) |
S51A |
probably benign |
Het |
| Uckl1 |
T |
C |
2: 181,216,256 (GRCm39) |
D148G |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,803 (GRCm39) |
L2571S |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,861,714 (GRCm39) |
V718A |
probably benign |
Het |
| Zfp979 |
G |
A |
4: 147,702,876 (GRCm39) |
Q25* |
probably null |
Het |
|
| Other mutations in Zfp266 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4453001:Zfp266
|
UTSW |
9 |
20,417,299 (GRCm39) |
missense |
probably benign |
|
|
R0744:Zfp266
|
UTSW |
9 |
20,411,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0836:Zfp266
|
UTSW |
9 |
20,411,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2180:Zfp266
|
UTSW |
9 |
20,410,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Zfp266
|
UTSW |
9 |
20,410,558 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3085:Zfp266
|
UTSW |
9 |
20,412,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3791:Zfp266
|
UTSW |
9 |
20,410,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5378:Zfp266
|
UTSW |
9 |
20,410,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5529:Zfp266
|
UTSW |
9 |
20,418,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5788:Zfp266
|
UTSW |
9 |
20,417,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6476:Zfp266
|
UTSW |
9 |
20,410,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Zfp266
|
UTSW |
9 |
20,410,895 (GRCm39) |
nonsense |
probably null |
|
|
R7326:Zfp266
|
UTSW |
9 |
20,413,391 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7417:Zfp266
|
UTSW |
9 |
20,412,232 (GRCm39) |
missense |
probably benign |
|
|
R7783:Zfp266
|
UTSW |
9 |
20,411,626 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7917:Zfp266
|
UTSW |
9 |
20,416,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7947:Zfp266
|
UTSW |
9 |
20,410,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8174:Zfp266
|
UTSW |
9 |
20,418,110 (GRCm39) |
start gained |
probably benign |
|
|
R8194:Zfp266
|
UTSW |
9 |
20,411,610 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8776:Zfp266
|
UTSW |
9 |
20,411,509 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8776-TAIL:Zfp266
|
UTSW |
9 |
20,411,509 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8872:Zfp266
|
UTSW |
9 |
20,411,275 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9096:Zfp266
|
UTSW |
9 |
20,416,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9220:Zfp266
|
UTSW |
9 |
20,413,337 (GRCm39) |
nonsense |
probably null |
|
|
R9284:Zfp266
|
UTSW |
9 |
20,411,300 (GRCm39) |
nonsense |
probably null |
|
|
R9502:Zfp266
|
UTSW |
9 |
20,413,413 (GRCm39) |
nonsense |
probably null |
|
|
R9547:Zfp266
|
UTSW |
9 |
20,411,746 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9550:Zfp266
|
UTSW |
9 |
20,410,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9752:Zfp266
|
UTSW |
9 |
20,411,496 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCGAGTACTGAGTAAAG -3'
(R):5'- AGTGTAACTGGTATGGGAAAGACAT -3'
Sequencing Primer
(F):5'- CCCATGGGATTATTAAGGCATGC -3'
(R):5'- AGACATTCTTTCTTTGCTCAAGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation