Incidental Mutation 'R5529:Zfp266'
ID |
433585 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp266
|
Ensembl Gene |
ENSMUSG00000060510 |
Gene Name |
zinc finger protein 266 |
Synonyms |
5330440G10Rik, 5730601F06Rik |
MMRRC Submission |
043087-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R5529 (G1)
|
Quality Score |
190 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
20406364-20432713 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20418030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 7
(S7P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134217
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068296]
[ENSMUST00000174462]
[ENSMUST00000213418]
[ENSMUST00000215908]
|
AlphaFold |
E9Q2S7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068296
AA Change: S7P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000066012 Gene: ENSMUSG00000060510 AA Change: S7P
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: S7P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134217 Gene: ENSMUSG00000060510 AA Change: S7P
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 |
unknown
Transcript: ENSMUST00000213418
AA Change: S7P
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215908
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217488
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.5%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,304,040 (GRCm39) |
Y2079C |
probably damaging |
Het |
Alg2 |
T |
C |
4: 47,472,101 (GRCm39) |
R236G |
probably damaging |
Het |
Alpl |
T |
A |
4: 137,473,733 (GRCm39) |
N323I |
probably damaging |
Het |
Anxa3 |
A |
G |
5: 96,976,238 (GRCm39) |
E172G |
probably benign |
Het |
Atp8a2 |
A |
G |
14: 60,031,314 (GRCm39) |
|
probably null |
Het |
Cadps |
T |
C |
14: 12,454,285 (GRCm38) |
K1078E |
probably damaging |
Het |
Ccn5 |
T |
C |
2: 163,667,279 (GRCm39) |
|
probably null |
Het |
Ces2e |
G |
T |
8: 105,656,543 (GRCm39) |
V258L |
probably benign |
Het |
Daam2 |
A |
G |
17: 49,766,085 (GRCm39) |
F1041S |
probably benign |
Het |
Dcstamp |
A |
G |
15: 39,617,932 (GRCm39) |
I114V |
probably benign |
Het |
Ddhd2 |
C |
T |
8: 26,229,587 (GRCm39) |
R496Q |
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,714,126 (GRCm39) |
R1335S |
probably benign |
Het |
F12 |
T |
C |
13: 55,569,872 (GRCm39) |
N102S |
probably benign |
Het |
Fbn1 |
G |
A |
2: 125,215,870 (GRCm39) |
L712F |
probably benign |
Het |
Fgf1 |
G |
T |
18: 38,991,657 (GRCm39) |
F37L |
probably damaging |
Het |
Fgf14 |
T |
A |
14: 124,217,867 (GRCm39) |
H212L |
probably damaging |
Het |
Gm10036 |
A |
T |
18: 15,965,858 (GRCm39) |
Q3L |
probably benign |
Het |
Hivep1 |
T |
C |
13: 42,310,126 (GRCm39) |
F789L |
possibly damaging |
Het |
Hspg2 |
C |
A |
4: 137,279,139 (GRCm39) |
T3074N |
probably damaging |
Het |
Katnb1 |
C |
T |
8: 95,824,300 (GRCm39) |
R495C |
probably damaging |
Het |
Kdm5b |
C |
T |
1: 134,515,741 (GRCm39) |
H122Y |
probably damaging |
Het |
Ky |
C |
T |
9: 102,419,274 (GRCm39) |
S427L |
probably benign |
Het |
Med9 |
T |
G |
11: 59,851,486 (GRCm39) |
V105G |
probably benign |
Het |
Ndufa11 |
T |
A |
17: 57,028,059 (GRCm39) |
V43D |
probably damaging |
Het |
Nlrp4b |
T |
A |
7: 10,448,873 (GRCm39) |
C359S |
possibly damaging |
Het |
Or12k8 |
T |
A |
2: 36,974,921 (GRCm39) |
I280F |
possibly damaging |
Het |
Or51e1 |
A |
T |
7: 102,358,900 (GRCm39) |
K145* |
probably null |
Het |
Paxbp1 |
T |
A |
16: 90,827,401 (GRCm39) |
Y478F |
possibly damaging |
Het |
Pole |
G |
A |
5: 110,480,332 (GRCm39) |
E92K |
probably benign |
Het |
Prom1 |
G |
T |
5: 44,184,110 (GRCm39) |
L449M |
probably damaging |
Het |
Psg28 |
G |
A |
7: 18,164,373 (GRCm39) |
T113I |
probably benign |
Het |
Reln |
A |
C |
5: 22,137,713 (GRCm39) |
V2493G |
possibly damaging |
Het |
Rp1 |
C |
T |
1: 4,416,055 (GRCm39) |
V1686I |
probably benign |
Het |
Setbp1 |
T |
C |
18: 79,129,867 (GRCm39) |
I122V |
probably damaging |
Het |
Setd5 |
T |
C |
6: 113,098,529 (GRCm39) |
Y721H |
probably damaging |
Het |
Shroom1 |
T |
C |
11: 53,354,749 (GRCm39) |
F223S |
probably damaging |
Het |
Son |
T |
A |
16: 91,452,354 (GRCm39) |
L367Q |
probably damaging |
Het |
Spred2 |
G |
T |
11: 19,971,301 (GRCm39) |
D363Y |
probably damaging |
Het |
Tbc1d8 |
T |
G |
1: 39,411,836 (GRCm39) |
Y1000S |
probably benign |
Het |
Tdp2 |
A |
T |
13: 25,022,219 (GRCm39) |
K213* |
probably null |
Het |
Tmem89 |
T |
C |
9: 108,744,545 (GRCm39) |
I146T |
probably damaging |
Het |
Vhl |
T |
C |
6: 113,606,424 (GRCm39) |
V147A |
probably benign |
Het |
Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
Vrk2 |
T |
C |
11: 26,449,036 (GRCm39) |
D186G |
probably damaging |
Het |
Zbtb40 |
A |
G |
4: 136,710,474 (GRCm39) |
F1222L |
possibly damaging |
Het |
Zfp472 |
T |
A |
17: 33,197,407 (GRCm39) |
I494K |
possibly damaging |
Het |
Zfp655 |
A |
G |
5: 145,181,546 (GRCm39) |
E468G |
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 |
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'- TCGCAAGCATACATCCTGGG -3'
(R):5'- TTATCTGCAGAGAGTGAGCACTAC -3'
Sequencing Primer
(F):5'- GCATACATCCTGGGACCCTAAATC -3'
(R):5'- AGAGTGAGCACTACTGTGTGATG -3'
|
Posted On |
2016-10-06 |