Incidental Mutation 'R0725:Zfp287'
| ID |
218380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp287
|
| Ensembl Gene |
ENSMUSG00000005267 |
| Gene Name |
zinc finger protein 287 |
| Synonyms |
SKAT-2, B230333C16Rik |
| MMRRC Submission |
038907-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0725 (G1)
|
| Quality Score |
80 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62591182-62622731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62605039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 623
(C623S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005399]
[ENSMUST00000149228]
[ENSMUST00000150336]
[ENSMUST00000185656]
|
| AlphaFold |
Q9EQB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005399
AA Change: C612S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: C612S
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
27 |
138 |
1e-50 |
SMART |
|
KRAB
|
155 |
212 |
5.79e-20 |
SMART |
|
low complexity region
|
253 |
262 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
355 |
377 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
383 |
405 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
411 |
433 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
439 |
461 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
467 |
489 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
495 |
517 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
523 |
545 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
551 |
573 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
579 |
601 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
607 |
629 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
635 |
657 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
663 |
685 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
691 |
713 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
719 |
741 |
1.38e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149228
AA Change: C623S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: C623S
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
38 |
149 |
1e-50 |
SMART |
|
KRAB
|
166 |
223 |
5.79e-20 |
SMART |
|
low complexity region
|
264 |
273 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
366 |
388 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
394 |
416 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
422 |
444 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
450 |
472 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
478 |
500 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
506 |
528 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
534 |
556 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
562 |
584 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
590 |
612 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
618 |
640 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
646 |
668 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
674 |
696 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
702 |
724 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
730 |
752 |
1.38e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150336
|
| SMART Domains |
Protein: ENSMUSP00000121717
Gene: ENSMUSG00000005267
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
38 |
149 |
1e-50 |
SMART |
|
KRAB
|
166 |
223 |
5.79e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185656
AA Change: C623S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: C623S
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
38 |
149 |
1e-50 |
SMART |
|
KRAB
|
166 |
223 |
5.79e-20 |
SMART |
|
low complexity region
|
264 |
273 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
366 |
388 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
394 |
416 |
2.61e-4 |
SMART |
|
ZnF_C2H2
|
422 |
444 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
450 |
472 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
478 |
500 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
506 |
528 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
534 |
556 |
4.54e-4 |
SMART |
|
ZnF_C2H2
|
562 |
584 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
590 |
612 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
618 |
640 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
646 |
668 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
674 |
696 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
702 |
724 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
730 |
752 |
1.38e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.3952 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
| Validation Efficiency |
100% (70/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the krueppel family of zinc finger proteins, suggesting a role as a transcription factor. Its specific function has not been determined. This gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asph |
C |
T |
4: 9,542,275 (GRCm39) |
D305N |
probably damaging |
Het |
| Atp13a3 |
T |
C |
16: 30,170,205 (GRCm39) |
K327R |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,026,264 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
T |
C |
12: 108,161,834 (GRCm39) |
|
probably benign |
Het |
| Cep55 |
T |
C |
19: 38,048,622 (GRCm39) |
S93P |
possibly damaging |
Het |
| Cfap300 |
A |
T |
9: 8,027,144 (GRCm39) |
D131E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,085,081 (GRCm39) |
|
probably benign |
Het |
| Clptm1l |
A |
G |
13: 73,754,462 (GRCm39) |
T129A |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,220,206 (GRCm39) |
E672G |
probably benign |
Het |
| Cpped1 |
C |
A |
16: 11,646,314 (GRCm39) |
W170L |
probably damaging |
Het |
| Crygb |
T |
C |
1: 65,121,100 (GRCm39) |
I76V |
probably benign |
Het |
| Cyp3a25 |
A |
G |
5: 145,931,746 (GRCm39) |
S121P |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,484,024 (GRCm39) |
D395G |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,163,170 (GRCm39) |
V597A |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,833,528 (GRCm39) |
D1891G |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,682 (GRCm39) |
D951G |
possibly damaging |
Het |
| Dync2h1 |
C |
A |
9: 7,015,497 (GRCm39) |
V3603F |
possibly damaging |
Het |
| Fam167b |
C |
A |
4: 129,472,078 (GRCm39) |
A31S |
probably damaging |
Het |
| Fgfrl1 |
T |
A |
5: 108,852,539 (GRCm39) |
I25N |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,526,569 (GRCm39) |
R347* |
probably null |
Het |
| Heatr5b |
T |
A |
17: 79,103,825 (GRCm39) |
I1117F |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,907,767 (GRCm39) |
V456A |
possibly damaging |
Het |
| Macc1 |
C |
A |
12: 119,411,251 (GRCm39) |
S673* |
probably null |
Het |
| Mpp4 |
T |
C |
1: 59,160,581 (GRCm39) |
E574G |
probably damaging |
Het |
| Muc20 |
C |
T |
16: 32,613,858 (GRCm39) |
M506I |
probably benign |
Het |
| Ncbp1 |
A |
G |
4: 46,152,056 (GRCm39) |
T218A |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,716,473 (GRCm39) |
V46E |
probably benign |
Het |
| Nfyc |
G |
T |
4: 120,625,931 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,581,766 (GRCm39) |
E454G |
probably benign |
Het |
| Or51f5 |
T |
A |
7: 102,423,739 (GRCm39) |
S3T |
probably benign |
Het |
| Or8g55 |
A |
T |
9: 39,784,643 (GRCm39) |
Q24L |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,122,101 (GRCm39) |
F681S |
possibly damaging |
Het |
| Pcm1 |
G |
C |
8: 41,740,848 (GRCm39) |
E1031D |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,115,730 (GRCm39) |
E1486G |
probably benign |
Het |
| Pex12 |
G |
T |
11: 83,188,860 (GRCm39) |
A45E |
probably damaging |
Het |
| Pheta1 |
T |
A |
5: 121,991,314 (GRCm39) |
H225Q |
probably benign |
Het |
| Pigm |
A |
G |
1: 172,204,384 (GRCm39) |
D40G |
probably damaging |
Het |
| Pkp1 |
G |
T |
1: 135,808,478 (GRCm39) |
N496K |
probably benign |
Het |
| Psmc4 |
T |
C |
7: 27,748,287 (GRCm39) |
I54V |
probably benign |
Het |
| Rbm33 |
T |
C |
5: 28,599,481 (GRCm39) |
V951A |
unknown |
Het |
| Selenbp2 |
G |
T |
3: 94,604,809 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
G |
A |
17: 85,368,263 (GRCm39) |
W510* |
probably null |
Het |
| Stx12 |
A |
C |
4: 132,584,701 (GRCm39) |
|
probably benign |
Het |
| Tas2r125 |
G |
T |
6: 132,887,085 (GRCm39) |
D158Y |
probably benign |
Het |
| Tchp |
C |
A |
5: 114,857,682 (GRCm39) |
Q392K |
probably benign |
Het |
| Tmed11 |
T |
A |
5: 108,926,855 (GRCm39) |
D139V |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,578,654 (GRCm39) |
V24080M |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,683,722 (GRCm39) |
G4967D |
probably damaging |
Het |
| Vezf1 |
T |
C |
11: 87,964,156 (GRCm39) |
S103P |
probably benign |
Het |
| Xpnpep3 |
T |
C |
15: 81,315,043 (GRCm39) |
S248P |
probably damaging |
Het |
| Yipf2 |
G |
C |
9: 21,503,519 (GRCm39) |
|
probably null |
Het |
| Zfp110 |
A |
T |
7: 12,570,290 (GRCm39) |
Q39L |
possibly damaging |
Het |
|
| Other mutations in Zfp287 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Zfp287
|
APN |
11 |
62,604,716 (GRCm39) |
nonsense |
probably null |
|
|
IGL01868:Zfp287
|
APN |
11 |
62,606,083 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03290:Zfp287
|
APN |
11 |
62,606,062 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0064:Zfp287
|
UTSW |
11 |
62,605,764 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0064:Zfp287
|
UTSW |
11 |
62,605,764 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0193:Zfp287
|
UTSW |
11 |
62,605,855 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0211:Zfp287
|
UTSW |
11 |
62,605,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0211:Zfp287
|
UTSW |
11 |
62,605,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0525:Zfp287
|
UTSW |
11 |
62,606,070 (GRCm39) |
missense |
probably benign |
|
|
R1405:Zfp287
|
UTSW |
11 |
62,619,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Zfp287
|
UTSW |
11 |
62,619,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Zfp287
|
UTSW |
11 |
62,605,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1487:Zfp287
|
UTSW |
11 |
62,616,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Zfp287
|
UTSW |
11 |
62,605,808 (GRCm39) |
nonsense |
probably null |
|
|
R2045:Zfp287
|
UTSW |
11 |
62,618,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2495:Zfp287
|
UTSW |
11 |
62,605,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3794:Zfp287
|
UTSW |
11 |
62,605,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3902:Zfp287
|
UTSW |
11 |
62,603,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4816:Zfp287
|
UTSW |
11 |
62,605,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Zfp287
|
UTSW |
11 |
62,604,962 (GRCm39) |
nonsense |
probably null |
|
|
R5048:Zfp287
|
UTSW |
11 |
62,605,777 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5858:Zfp287
|
UTSW |
11 |
62,604,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Zfp287
|
UTSW |
11 |
62,616,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6964:Zfp287
|
UTSW |
11 |
62,615,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7024:Zfp287
|
UTSW |
11 |
62,605,764 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7252:Zfp287
|
UTSW |
11 |
62,615,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7318:Zfp287
|
UTSW |
11 |
62,605,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Zfp287
|
UTSW |
11 |
62,604,701 (GRCm39) |
nonsense |
probably null |
|
|
R7658:Zfp287
|
UTSW |
11 |
62,616,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8916:Zfp287
|
UTSW |
11 |
62,605,136 (GRCm39) |
nonsense |
probably null |
|
|
R9295:Zfp287
|
UTSW |
11 |
62,606,115 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1186:Zfp287
|
UTSW |
11 |
62,613,757 (GRCm39) |
nonsense |
probably null |
|
|
Z1186:Zfp287
|
UTSW |
11 |
62,606,175 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Zfp287
|
UTSW |
11 |
62,604,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Zfp287
|
UTSW |
11 |
62,613,757 (GRCm39) |
nonsense |
probably null |
|
|
Z1187:Zfp287
|
UTSW |
11 |
62,606,175 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Zfp287
|
UTSW |
11 |
62,604,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Zfp287
|
UTSW |
11 |
62,613,757 (GRCm39) |
nonsense |
probably null |
|
|
Z1188:Zfp287
|
UTSW |
11 |
62,606,175 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Zfp287
|
UTSW |
11 |
62,604,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Zfp287
|
UTSW |
11 |
62,613,757 (GRCm39) |
nonsense |
probably null |
|
|
Z1189:Zfp287
|
UTSW |
11 |
62,606,175 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Zfp287
|
UTSW |
11 |
62,604,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Zfp287
|
UTSW |
11 |
62,613,757 (GRCm39) |
nonsense |
probably null |
|
|
Z1190:Zfp287
|
UTSW |
11 |
62,606,175 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Zfp287
|
UTSW |
11 |
62,604,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Zfp287
|
UTSW |
11 |
62,613,757 (GRCm39) |
nonsense |
probably null |
|
|
Z1191:Zfp287
|
UTSW |
11 |
62,606,175 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Zfp287
|
UTSW |
11 |
62,604,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Zfp287
|
UTSW |
11 |
62,613,757 (GRCm39) |
nonsense |
probably null |
|
|
Z1192:Zfp287
|
UTSW |
11 |
62,606,175 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Zfp287
|
UTSW |
11 |
62,604,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTCTCTCCAGTGTGGACCC -3'
(R):5'- GCAAAGAATTTAAGCATCTCTCCTCCCT -3'
Sequencing Primer
(F):5'- CAGTGTGGACCCGTTGG -3'
(R):5'- cgcacctcaccatccatc -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation