Incidental Mutation 'R3791:Zfp266'
| ID |
272537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp266
|
| Ensembl Gene |
ENSMUSG00000060510 |
| Gene Name |
zinc finger protein 266 |
| Synonyms |
5330440G10Rik, 5730601F06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R3791 (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 C
at 20410777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 467
(Y467D)
|
| 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: Y467D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066012
Gene: ENSMUSG00000060510
AA Change: Y467D
| 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: Y467D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134217
Gene: ENSMUSG00000060510
AA Change: Y467D
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
AGGTGGTGGTGGTGGTGGTGGTGG |
AGGTGGTGGTGGTGGTGGTGG |
6: 132,603,479 (GRCm39) |
|
probably benign |
Het |
| A930009A15Rik |
A |
T |
10: 115,414,194 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,741,221 (GRCm39) |
Y81C |
probably damaging |
Het |
| Alx3 |
A |
T |
3: 107,508,022 (GRCm39) |
Y177F |
probably damaging |
Het |
| C6 |
A |
G |
15: 4,764,717 (GRCm39) |
T138A |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,905,538 (GRCm39) |
M410V |
probably benign |
Het |
| Ccn4 |
A |
G |
15: 66,791,137 (GRCm39) |
Y313C |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Cnrip1 |
C |
T |
11: 17,004,845 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
C |
9: 105,741,868 (GRCm39) |
D2350E |
probably damaging |
Het |
| Cyp4a12b |
A |
G |
4: 115,292,167 (GRCm39) |
I407V |
probably benign |
Het |
| Gpx4 |
A |
G |
10: 79,892,023 (GRCm39) |
I245V |
probably benign |
Het |
| H2-K2 |
A |
G |
17: 34,218,499 (GRCm39) |
I139T |
probably benign |
Het |
| Hmgcl |
A |
G |
4: 135,687,298 (GRCm39) |
K191R |
probably benign |
Het |
| Hpdl |
A |
G |
4: 116,677,729 (GRCm39) |
V244A |
possibly damaging |
Het |
| Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,762,646 (GRCm39) |
K162R |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,799,810 (GRCm39) |
N514S |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,030 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
A |
9: 123,309,439 (GRCm39) |
S379R |
possibly damaging |
Het |
| Llph |
A |
G |
10: 120,064,060 (GRCm39) |
K59E |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,869,593 (GRCm39) |
M709L |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,352,238 (GRCm39) |
S665G |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,963,931 (GRCm39) |
H524Y |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Or51s1 |
T |
C |
7: 102,558,239 (GRCm39) |
D269G |
probably benign |
Het |
| Phtf2 |
T |
C |
5: 20,987,296 (GRCm39) |
E400G |
probably damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,362,949 (GRCm39) |
V1080A |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,606,944 (GRCm39) |
H1007Q |
probably benign |
Het |
| Prr5 |
T |
C |
15: 84,565,417 (GRCm39) |
S3P |
probably damaging |
Het |
| Qtrt1 |
G |
A |
9: 21,330,636 (GRCm39) |
D279N |
probably damaging |
Het |
| Rundc1 |
G |
A |
11: 101,325,027 (GRCm39) |
A578T |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,565,251 (GRCm39) |
V16E |
probably damaging |
Het |
| Sik3 |
A |
T |
9: 46,106,120 (GRCm39) |
L329F |
possibly damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,015,982 (GRCm39) |
S391P |
possibly damaging |
Het |
| Smad1 |
C |
A |
8: 80,066,399 (GRCm39) |
R426L |
probably damaging |
Het |
| Tent4b |
G |
A |
8: 88,969,957 (GRCm39) |
E210K |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,061,293 (GRCm39) |
N820K |
possibly damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,807,841 (GRCm39) |
S1598P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,545,168 (GRCm39) |
I32645V |
probably damaging |
Het |
| Zfp526 |
T |
A |
7: 24,925,628 (GRCm39) |
M629K |
probably damaging |
Het |
| Zfp788 |
A |
T |
7: 41,299,152 (GRCm39) |
H596L |
probably damaging |
Het |
| Zhx3 |
A |
G |
2: 160,622,368 (GRCm39) |
W600R |
possibly 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 |
|
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: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'- TCGCCACTGTGAATTTTCAGATG -3'
(R):5'- CATCCTACAGGCCTTGCTATG -3'
Sequencing Primer
(F):5'- GCCACTGTGAATTTTCAGATGTTTAG -3'
(R):5'- GAAAGCCTTCCTTCGATGGTCAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation