Incidental Mutation 'R2023:Zfp287'
ID |
220155 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp287
|
Ensembl Gene |
ENSMUSG00000005267 |
Gene Name |
zinc finger protein 287 |
Synonyms |
SKAT-2, B230333C16Rik |
MMRRC Submission |
040032-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2023 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
62591182-62622731 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to C
at 62605808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 366
(Y366*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005399]
[ENSMUST00000149228]
[ENSMUST00000150336]
[ENSMUST00000185656]
|
AlphaFold |
Q9EQB9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000005399
AA Change: Y355*
|
SMART Domains |
Protein: ENSMUSP00000005399 Gene: ENSMUSG00000005267 AA Change: Y355*
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 null
Transcript: ENSMUST00000149228
AA Change: Y366*
|
SMART Domains |
Protein: ENSMUSP00000114531 Gene: ENSMUSG00000005267 AA Change: Y366*
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 null
Transcript: ENSMUST00000185656
AA Change: Y366*
|
SMART Domains |
Protein: ENSMUSP00000141046 Gene: ENSMUSG00000005267 AA Change: Y366*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
Validation Efficiency |
97% (60/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
A |
G |
11: 48,839,247 (GRCm39) |
S447P |
possibly damaging |
Het |
9930111J21Rik2 |
A |
G |
11: 48,911,144 (GRCm39) |
F430L |
probably benign |
Het |
Acap2 |
A |
G |
16: 30,938,233 (GRCm39) |
V297A |
probably damaging |
Het |
Adam3 |
G |
A |
8: 25,179,479 (GRCm39) |
R613C |
possibly damaging |
Het |
Akt1 |
C |
T |
12: 112,626,071 (GRCm39) |
R67Q |
probably benign |
Het |
Ambp |
T |
C |
4: 63,069,702 (GRCm39) |
Y108C |
probably damaging |
Het |
Apob |
A |
G |
12: 8,061,090 (GRCm39) |
I3158V |
probably benign |
Het |
Bank1 |
T |
C |
3: 136,031,679 (GRCm39) |
T8A |
probably benign |
Het |
Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
Ccdc88a |
G |
T |
11: 29,413,546 (GRCm39) |
E695* |
probably null |
Het |
Cep68 |
A |
C |
11: 20,189,888 (GRCm39) |
S375A |
probably benign |
Het |
Cfap44 |
A |
G |
16: 44,236,375 (GRCm39) |
I417V |
probably benign |
Het |
Chrna2 |
T |
A |
14: 66,379,677 (GRCm39) |
H5Q |
probably benign |
Het |
Cog7 |
A |
T |
7: 121,536,193 (GRCm39) |
I549K |
probably damaging |
Het |
Col28a1 |
C |
A |
6: 8,083,783 (GRCm39) |
S558I |
possibly damaging |
Het |
Cyp4f14 |
A |
G |
17: 33,125,505 (GRCm39) |
I385T |
probably damaging |
Het |
Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
Erap1 |
T |
A |
13: 74,814,627 (GRCm39) |
V451E |
probably benign |
Het |
Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
Gm5616 |
A |
G |
9: 48,361,928 (GRCm39) |
|
noncoding transcript |
Het |
Gm5709 |
T |
C |
3: 59,543,142 (GRCm39) |
|
noncoding transcript |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
Itpr3 |
T |
A |
17: 27,321,785 (GRCm39) |
M1054K |
possibly damaging |
Het |
Kars1 |
T |
C |
8: 112,728,484 (GRCm39) |
N200S |
probably benign |
Het |
Kdm2a |
C |
A |
19: 4,372,492 (GRCm39) |
R951L |
probably damaging |
Het |
Ldhd |
T |
A |
8: 112,356,578 (GRCm39) |
H61L |
probably damaging |
Het |
Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
Micall2 |
A |
G |
5: 139,703,266 (GRCm39) |
V190A |
possibly damaging |
Het |
Mis18bp1 |
A |
T |
12: 65,195,883 (GRCm39) |
V627E |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,574,054 (GRCm39) |
T711S |
probably benign |
Het |
Notch4 |
T |
C |
17: 34,806,502 (GRCm39) |
L1813P |
probably damaging |
Het |
Nox3 |
A |
G |
17: 3,744,296 (GRCm39) |
|
probably benign |
Het |
Or4b1d |
G |
T |
2: 89,969,200 (GRCm39) |
C94* |
probably null |
Het |
Or5p63 |
A |
G |
7: 107,811,049 (GRCm39) |
L229P |
probably damaging |
Het |
Or6c1b |
T |
A |
10: 129,273,451 (GRCm39) |
Y257N |
probably damaging |
Het |
Osbpl2 |
C |
A |
2: 179,791,969 (GRCm39) |
|
probably null |
Het |
Pamr1 |
T |
A |
2: 102,464,880 (GRCm39) |
M343K |
probably benign |
Het |
Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
Pgr |
T |
A |
9: 8,958,399 (GRCm39) |
V802D |
probably damaging |
Het |
Pgs1 |
A |
G |
11: 117,893,228 (GRCm39) |
E55G |
probably benign |
Het |
Pkd2 |
T |
A |
5: 104,614,744 (GRCm39) |
|
probably null |
Het |
Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
Ptprd |
C |
T |
4: 75,875,341 (GRCm39) |
E1240K |
probably damaging |
Het |
Recql5 |
G |
A |
11: 115,784,466 (GRCm39) |
T878I |
probably benign |
Het |
Rnf17 |
A |
G |
14: 56,669,036 (GRCm39) |
D233G |
possibly damaging |
Het |
Sectm1a |
A |
G |
11: 120,960,408 (GRCm39) |
|
probably benign |
Het |
Smo |
A |
G |
6: 29,754,715 (GRCm39) |
N262D |
possibly damaging |
Het |
Srcin1 |
A |
G |
11: 97,416,872 (GRCm39) |
S931P |
probably benign |
Het |
Tcof1 |
C |
T |
18: 60,966,605 (GRCm39) |
G329R |
probably damaging |
Het |
Thsd7a |
G |
A |
6: 12,327,535 (GRCm39) |
H1446Y |
probably benign |
Het |
Tlr11 |
A |
G |
14: 50,600,026 (GRCm39) |
T671A |
probably damaging |
Het |
Tmem171 |
C |
A |
13: 98,828,733 (GRCm39) |
W139L |
probably damaging |
Het |
Vmn2r101 |
C |
T |
17: 19,810,368 (GRCm39) |
R385* |
probably null |
Het |
Vps13c |
A |
T |
9: 67,843,567 (GRCm39) |
|
probably benign |
Het |
Wdr87-ps |
G |
T |
7: 29,230,959 (GRCm39) |
|
noncoding transcript |
Het |
Zfp456 |
A |
T |
13: 67,514,616 (GRCm39) |
C363* |
probably null |
Het |
Zfp523 |
A |
G |
17: 28,419,978 (GRCm39) |
|
probably benign |
Het |
Zfp667 |
A |
C |
7: 6,308,416 (GRCm39) |
K361N |
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 |
|
R0725:Zfp287
|
UTSW |
11 |
62,605,039 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
62,606,175 (GRCm39) |
missense |
probably benign |
|
Z1189:Zfp287
|
UTSW |
11 |
62,604,633 (GRCm39) |
missense |
probably benign |
0.00 |
Z1189:Zfp287
|
UTSW |
11 |
62,613,757 (GRCm39) |
nonsense |
probably null |
|
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'- ACACTGGTGGCATTCGTAC -3'
(R):5'- GTGAAGTCAGAGCTTTCACAAG -3'
Sequencing Primer
(F):5'- GGCATTCGTACGGTTTTTCTC -3'
(R):5'- GTCAGAGCTTTCACAAGAAGAC -3'
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Posted On |
2014-08-25 |