Incidental Mutation 'R8776:Zfp266'
| ID |
664703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp266
|
| Ensembl Gene |
ENSMUSG00000060510 |
| Gene Name |
zinc finger protein 266 |
| Synonyms |
5330440G10Rik, 5730601F06Rik |
| MMRRC Submission |
068629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R8776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20406364-20432713 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20411509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 223
(S223G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068296]
[ENSMUST00000174462]
[ENSMUST00000215908]
|
| AlphaFold |
E9Q2S7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068296
AA Change: S223G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000066012
Gene: ENSMUSG00000060510
AA Change: S223G
| 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 benign
Transcript: ENSMUST00000174462
AA Change: S223G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000134217
Gene: ENSMUSG00000060510
AA Change: S223G
| 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 benign
Transcript: ENSMUST00000215908
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| 4930568D16Rik |
A |
G |
2: 35,245,002 (GRCm39) |
Y117H |
probably benign |
Het |
| a |
A |
G |
2: 154,892,612 (GRCm39) |
D97G |
probably damaging |
Het |
| Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
| Chst9 |
T |
A |
18: 15,586,086 (GRCm39) |
Y159F |
possibly damaging |
Het |
| Col26a1 |
G |
A |
5: 136,911,708 (GRCm39) |
R52C |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,263,701 (GRCm39) |
D3323V |
possibly damaging |
Het |
| Dennd11 |
T |
C |
6: 40,395,775 (GRCm39) |
|
probably benign |
Het |
| Dqx1 |
T |
A |
6: 83,035,619 (GRCm39) |
I44N |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 106,613,992 (GRCm39) |
D415G |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,650,733 (GRCm39) |
D801V |
probably damaging |
Het |
| Fam13b |
G |
A |
18: 34,584,446 (GRCm39) |
R573C |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,798,002 (GRCm39) |
I415N |
possibly damaging |
Het |
| Gm32742 |
T |
A |
9: 51,067,230 (GRCm39) |
M366L |
probably benign |
Het |
| Gm49336 |
A |
T |
14: 60,457,515 (GRCm39) |
S563T |
possibly damaging |
Het |
| Gm5475 |
T |
C |
15: 100,324,892 (GRCm39) |
F107L |
unknown |
Het |
| Lamp3 |
T |
C |
16: 19,474,252 (GRCm39) |
D374G |
probably damaging |
Het |
| Lin9 |
T |
C |
1: 180,496,450 (GRCm39) |
|
probably null |
Het |
| Mef2d |
T |
C |
3: 88,074,956 (GRCm39) |
S381P |
probably benign |
Het |
| Mfsd9 |
A |
G |
1: 40,812,915 (GRCm39) |
*467Q |
probably null |
Het |
| Mpo |
A |
G |
11: 87,693,538 (GRCm39) |
I639V |
possibly damaging |
Het |
| Mrgprh |
T |
C |
17: 13,096,375 (GRCm39) |
I205T |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,154,476 (GRCm39) |
D580G |
probably benign |
Het |
| Nkain4 |
T |
A |
2: 180,585,920 (GRCm39) |
I48F |
probably damaging |
Het |
| Notch4 |
C |
A |
17: 34,806,579 (GRCm39) |
R1839S |
probably damaging |
Het |
| Nr6a1 |
A |
G |
2: 38,650,244 (GRCm39) |
Y129H |
probably damaging |
Het |
| Nras |
T |
C |
3: 102,966,176 (GRCm39) |
|
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,856,286 (GRCm39) |
I114N |
possibly damaging |
Het |
| Robo1 |
G |
T |
16: 72,821,141 (GRCm39) |
E1294* |
probably null |
Het |
| Septin8 |
A |
G |
11: 53,428,343 (GRCm39) |
K331R |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,356,785 (GRCm39) |
|
probably null |
Het |
| Skint6 |
A |
C |
4: 112,661,885 (GRCm39) |
L1233R |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,621,165 (GRCm39) |
T402S |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,889 (GRCm39) |
T373A |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,863,283 (GRCm39) |
C144R |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,181,783 (GRCm39) |
V4184A |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,544,239 (GRCm39) |
R2122H |
probably damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,532,316 (GRCm39) |
D38E |
probably benign |
Het |
| Tnnc2 |
C |
T |
2: 164,620,135 (GRCm39) |
A6T |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,356,320 (GRCm39) |
V1127A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,077,195 (GRCm39) |
Y1307H |
probably damaging |
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 |
|
R3972:Zfp266
|
UTSW |
9 |
20,411,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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-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'- CAAGGCCCGAGTACTGAGT -3'
(R):5'- ACAATTATGCCTTAACACAGAGGT -3'
Sequencing Primer
(F):5'- CCCATGGGATTATTAAGGCATGC -3'
(R):5'- TGAGCATGCAAAGTCAAGGATAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation