Incidental Mutation 'R0525:Zfp287'
ID |
48861 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp287
|
Ensembl Gene |
ENSMUSG00000005267 |
Gene Name |
zinc finger protein 287 |
Synonyms |
SKAT-2, B230333C16Rik |
MMRRC Submission |
038718-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0525 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
62591182-62622731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62606070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 279
(V279E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141046
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005399]
[ENSMUST00000149228]
[ENSMUST00000150336]
[ENSMUST00000185656]
|
AlphaFold |
Q9EQB9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005399
AA Change: V268E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000005399 Gene: ENSMUSG00000005267 AA Change: V268E
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 benign
Transcript: ENSMUST00000149228
AA Change: V279E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114531 Gene: ENSMUSG00000005267 AA Change: V279E
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 benign
Transcript: ENSMUST00000185656
AA Change: V279E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141046 Gene: ENSMUSG00000005267 AA Change: V279E
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
100% (72/72) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933440M02Rik |
T |
A |
7: 124,930,671 (GRCm39) |
|
noncoding transcript |
Het |
A930002H24Rik |
A |
G |
17: 64,170,642 (GRCm39) |
W49R |
unknown |
Het |
Abca13 |
G |
A |
11: 9,243,371 (GRCm39) |
V1745M |
probably damaging |
Het |
Abca16 |
T |
G |
7: 120,065,033 (GRCm39) |
Y563* |
probably null |
Het |
Acot12 |
C |
T |
13: 91,908,186 (GRCm39) |
|
probably benign |
Het |
Alms1 |
G |
A |
6: 85,564,742 (GRCm39) |
A39T |
unknown |
Het |
Arid5b |
T |
C |
10: 67,933,676 (GRCm39) |
D742G |
possibly damaging |
Het |
Atp1a4 |
G |
A |
1: 172,067,255 (GRCm39) |
|
probably benign |
Het |
AU021092 |
T |
A |
16: 5,035,725 (GRCm39) |
E145V |
possibly damaging |
Het |
Calr4 |
A |
T |
4: 109,099,461 (GRCm39) |
|
probably benign |
Het |
Clip4 |
T |
A |
17: 72,106,093 (GRCm39) |
|
probably null |
Het |
Cnpy4 |
A |
T |
5: 138,190,878 (GRCm39) |
H180L |
probably benign |
Het |
Cyp2j9 |
T |
C |
4: 96,467,802 (GRCm39) |
|
probably null |
Het |
Dgkq |
A |
G |
5: 108,802,481 (GRCm39) |
S406P |
probably damaging |
Het |
Dhx8 |
G |
A |
11: 101,654,754 (GRCm39) |
C1014Y |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,527,977 (GRCm39) |
Y3824C |
probably damaging |
Het |
Donson |
A |
T |
16: 91,483,133 (GRCm39) |
H69Q |
probably damaging |
Het |
Dppa3 |
A |
G |
6: 122,606,939 (GRCm39) |
E143G |
probably damaging |
Het |
Drg1 |
A |
G |
11: 3,212,545 (GRCm39) |
F96L |
probably damaging |
Het |
Dvl1 |
A |
C |
4: 155,940,052 (GRCm39) |
T395P |
probably damaging |
Het |
Eftud2 |
A |
T |
11: 102,730,079 (GRCm39) |
V897D |
probably damaging |
Het |
Enpp6 |
A |
G |
8: 47,535,478 (GRCm39) |
N341S |
possibly damaging |
Het |
F11 |
A |
G |
8: 45,706,086 (GRCm39) |
F100L |
probably benign |
Het |
Fas |
T |
C |
19: 34,296,727 (GRCm39) |
Y189H |
probably damaging |
Het |
Galnt14 |
G |
T |
17: 73,852,076 (GRCm39) |
S114R |
probably damaging |
Het |
Gfpt2 |
A |
G |
11: 49,720,602 (GRCm39) |
I528V |
probably benign |
Het |
Glt6d1 |
A |
G |
2: 25,684,280 (GRCm39) |
V242A |
possibly damaging |
Het |
Grm1 |
A |
T |
10: 10,594,953 (GRCm39) |
|
probably benign |
Het |
Gskip |
G |
A |
12: 105,665,224 (GRCm39) |
A88T |
probably damaging |
Het |
Gtpbp1 |
A |
G |
15: 79,597,648 (GRCm39) |
I348V |
probably benign |
Het |
Hnrnpul1 |
C |
A |
7: 25,440,308 (GRCm39) |
R316L |
possibly damaging |
Het |
Il34 |
T |
C |
8: 111,474,915 (GRCm39) |
E121G |
probably damaging |
Het |
Lrr1 |
T |
C |
12: 69,215,685 (GRCm39) |
L19P |
probably damaging |
Het |
Mat2b |
A |
G |
11: 40,573,496 (GRCm39) |
|
probably benign |
Het |
Mettl21e |
T |
C |
1: 44,245,542 (GRCm39) |
K235E |
probably damaging |
Het |
Mir124-2hg |
T |
A |
3: 17,839,693 (GRCm39) |
E126V |
possibly damaging |
Het |
Myh15 |
A |
G |
16: 48,952,414 (GRCm39) |
K828R |
probably benign |
Het |
Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
Nek5 |
C |
A |
8: 22,569,093 (GRCm39) |
|
probably benign |
Het |
Nudt7 |
A |
T |
8: 114,878,392 (GRCm39) |
|
probably null |
Het |
Or10ag56 |
A |
T |
2: 87,139,693 (GRCm39) |
T187S |
probably benign |
Het |
Or10d4c |
T |
G |
9: 39,558,767 (GRCm39) |
C248W |
probably damaging |
Het |
Or1j4 |
T |
C |
2: 36,740,202 (GRCm39) |
L48P |
probably damaging |
Het |
Or4a67 |
G |
A |
2: 88,597,658 (GRCm39) |
Q334* |
probably null |
Het |
Or8k23 |
C |
T |
2: 86,186,619 (GRCm39) |
V36I |
probably benign |
Het |
Phyhd1 |
A |
G |
2: 30,171,040 (GRCm39) |
H241R |
probably damaging |
Het |
Pmch |
T |
C |
10: 87,927,262 (GRCm39) |
|
probably benign |
Het |
Ror1 |
A |
G |
4: 100,298,717 (GRCm39) |
S697G |
probably damaging |
Het |
Rslcan18 |
A |
G |
13: 67,260,322 (GRCm39) |
V25A |
probably benign |
Het |
Sema6b |
T |
C |
17: 56,433,630 (GRCm39) |
H426R |
probably damaging |
Het |
Serpina3g |
T |
C |
12: 104,204,598 (GRCm39) |
F9S |
probably damaging |
Het |
Serpinb12 |
T |
A |
1: 106,874,432 (GRCm39) |
H52Q |
probably benign |
Het |
Sh3gl1 |
T |
C |
17: 56,324,873 (GRCm39) |
K294R |
probably benign |
Het |
Sidt1 |
G |
T |
16: 44,079,809 (GRCm39) |
T615K |
possibly damaging |
Het |
Slc16a4 |
A |
C |
3: 107,205,255 (GRCm39) |
|
probably benign |
Het |
Sned1 |
T |
A |
1: 93,199,696 (GRCm39) |
|
probably null |
Het |
Sp2 |
A |
T |
11: 96,846,924 (GRCm39) |
|
probably benign |
Het |
Steap1 |
T |
A |
5: 5,792,903 (GRCm39) |
I3F |
possibly damaging |
Het |
Stxbp5l |
A |
T |
16: 36,950,159 (GRCm39) |
|
probably null |
Het |
Tbc1d9 |
G |
T |
8: 83,995,614 (GRCm39) |
V968F |
probably benign |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Triobp |
T |
C |
15: 78,858,098 (GRCm39) |
L1233P |
possibly damaging |
Het |
Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
Trpc4ap |
A |
G |
2: 155,482,398 (GRCm39) |
F531L |
possibly damaging |
Het |
Ugt1a10 |
C |
T |
1: 88,145,971 (GRCm39) |
P473L |
probably damaging |
Het |
Vmn1r86 |
T |
C |
7: 12,836,088 (GRCm39) |
K213E |
probably benign |
Het |
Vps8 |
G |
A |
16: 21,358,859 (GRCm39) |
|
probably null |
Het |
Wnk1 |
A |
T |
6: 119,903,525 (GRCm39) |
S2563T |
probably damaging |
Het |
Yrdc |
C |
G |
4: 124,745,559 (GRCm39) |
R3G |
probably 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 |
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 |
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 |
62,606,175 (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'- CATCCGACTGGGTATCAAACTGGAC -3'
(R):5'- GGAAGGAGCCTCTCCATTTTCAGTG -3'
Sequencing Primer
(F):5'- CCCCTAGGTTTGTGTGCTTT -3'
(R):5'- TTAAGGGCCATAAAATGGAGTTATC -3'
|
Posted On |
2013-06-12 |