Incidental Mutation 'R1487:Zfp287'
ID |
163546 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp287
|
Ensembl Gene |
ENSMUSG00000005267 |
Gene Name |
zinc finger protein 287 |
Synonyms |
SKAT-2, B230333C16Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1487 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
62591182-62622731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62616115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 192
(K192R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005399]
[ENSMUST00000128370]
[ENSMUST00000149228]
[ENSMUST00000150336]
[ENSMUST00000185656]
|
AlphaFold |
Q9EQB9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000005399
AA Change: K181R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000005399 Gene: ENSMUSG00000005267 AA Change: K181R
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 |
noncoding transcript
Transcript: ENSMUST00000127732
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128370
AA Change: K181R
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000117179 Gene: ENSMUSG00000005267 AA Change: K181R
Domain | Start | End | E-Value | Type |
SCAN
|
27 |
138 |
1e-50 |
SMART |
KRAB
|
155 |
212 |
5.79e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149228
AA Change: K192R
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000114531 Gene: ENSMUSG00000005267 AA Change: K192R
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 damaging
Transcript: ENSMUST00000150336
AA Change: K192R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000121717 Gene: ENSMUSG00000005267 AA Change: K192R
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: K192R
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000141046 Gene: ENSMUSG00000005267 AA Change: K192R
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
A |
C |
6: 146,854,877 (GRCm39) |
V55G |
probably benign |
Het |
Abhd13 |
A |
G |
8: 10,037,402 (GRCm39) |
|
probably benign |
Het |
Arid5b |
T |
A |
10: 67,933,044 (GRCm39) |
K953* |
probably null |
Het |
Armh3 |
A |
C |
19: 45,928,882 (GRCm39) |
|
probably null |
Het |
B4galt6 |
A |
G |
18: 20,839,571 (GRCm39) |
V121A |
possibly damaging |
Het |
C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
Calu |
A |
G |
6: 29,366,955 (GRCm39) |
I208V |
probably benign |
Het |
Cd14 |
T |
C |
18: 36,858,537 (GRCm39) |
N306S |
probably benign |
Het |
Cdc16 |
T |
A |
8: 13,821,445 (GRCm39) |
N415K |
probably benign |
Het |
Cfap57 |
C |
A |
4: 118,471,978 (GRCm39) |
V134F |
probably benign |
Het |
Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
Chtf18 |
T |
C |
17: 25,939,583 (GRCm39) |
K67R |
probably benign |
Het |
Clock |
T |
C |
5: 76,414,201 (GRCm39) |
|
probably null |
Het |
Cplane1 |
C |
T |
15: 8,215,715 (GRCm39) |
R424W |
probably damaging |
Het |
Eif4g1 |
G |
A |
16: 20,497,623 (GRCm39) |
|
probably benign |
Het |
Eps8l2 |
A |
T |
7: 140,941,531 (GRCm39) |
M601L |
probably benign |
Het |
Fat4 |
A |
G |
3: 39,050,066 (GRCm39) |
E3976G |
possibly damaging |
Het |
Flrt3 |
T |
A |
2: 140,502,854 (GRCm39) |
H258L |
probably damaging |
Het |
Flt4 |
C |
A |
11: 49,523,971 (GRCm39) |
T517K |
possibly damaging |
Het |
Galnt7 |
T |
C |
8: 57,993,073 (GRCm39) |
N416S |
probably damaging |
Het |
Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
Gm17079 |
A |
T |
14: 51,930,542 (GRCm39) |
|
probably null |
Het |
Gucy2c |
T |
A |
6: 136,725,824 (GRCm39) |
I375F |
possibly damaging |
Het |
Hps4 |
C |
T |
5: 112,525,865 (GRCm39) |
Q629* |
probably null |
Het |
Hunk |
A |
G |
16: 90,183,525 (GRCm39) |
Y61C |
probably damaging |
Het |
Itga6 |
T |
C |
2: 71,673,584 (GRCm39) |
S873P |
possibly damaging |
Het |
Kcnc1 |
A |
G |
7: 46,047,298 (GRCm39) |
H66R |
possibly damaging |
Het |
Kcnc1 |
T |
C |
7: 46,084,772 (GRCm39) |
|
probably null |
Het |
Khdc3 |
A |
G |
9: 73,009,846 (GRCm39) |
T19A |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,745,287 (GRCm39) |
|
probably benign |
Het |
Lipe |
C |
T |
7: 25,084,240 (GRCm39) |
A615T |
possibly damaging |
Het |
Lrguk |
A |
T |
6: 34,039,295 (GRCm39) |
M269L |
probably benign |
Het |
Lrrc18 |
A |
G |
14: 32,730,640 (GRCm39) |
N60D |
probably damaging |
Het |
Magi1 |
T |
C |
6: 93,685,060 (GRCm39) |
T773A |
probably benign |
Het |
Map3k14 |
T |
A |
11: 103,116,163 (GRCm39) |
D755V |
possibly damaging |
Het |
Mecom |
T |
C |
3: 30,034,213 (GRCm39) |
T488A |
probably damaging |
Het |
Mmp10 |
T |
G |
9: 7,509,978 (GRCm39) |
W473G |
probably damaging |
Het |
Mrgpra2a |
C |
T |
7: 47,076,434 (GRCm39) |
V275I |
probably benign |
Het |
Myo7a |
A |
C |
7: 97,703,017 (GRCm39) |
|
probably null |
Het |
Nadsyn1 |
C |
T |
7: 143,360,662 (GRCm39) |
V369I |
probably benign |
Het |
Nptxr |
C |
A |
15: 79,674,104 (GRCm39) |
G424V |
probably damaging |
Het |
Nrg2 |
C |
T |
18: 36,185,965 (GRCm39) |
G258E |
possibly damaging |
Het |
Nup210 |
G |
A |
6: 91,019,558 (GRCm39) |
P221S |
probably damaging |
Het |
Odad2 |
A |
T |
18: 7,273,245 (GRCm39) |
Y282N |
probably damaging |
Het |
Or52a33 |
T |
A |
7: 103,288,801 (GRCm39) |
H182L |
probably damaging |
Het |
Or6c208 |
T |
C |
10: 129,224,209 (GRCm39) |
F236L |
probably benign |
Het |
Oxct1 |
A |
G |
15: 4,177,057 (GRCm39) |
D477G |
possibly damaging |
Het |
Pcdh8 |
G |
T |
14: 80,006,987 (GRCm39) |
D525E |
probably damaging |
Het |
Phldb2 |
A |
G |
16: 45,609,387 (GRCm39) |
S740P |
probably damaging |
Het |
Prss54 |
A |
G |
8: 96,286,276 (GRCm39) |
S266P |
probably benign |
Het |
Ptprh |
T |
A |
7: 4,555,737 (GRCm39) |
I741F |
probably damaging |
Het |
Rab11fip1 |
G |
T |
8: 27,644,240 (GRCm39) |
S515Y |
probably damaging |
Het |
Recql4 |
T |
A |
15: 76,593,183 (GRCm39) |
N309I |
probably benign |
Het |
Sec24a |
T |
C |
11: 51,622,713 (GRCm39) |
T388A |
possibly damaging |
Het |
Setd6 |
T |
A |
8: 96,444,556 (GRCm39) |
L83H |
probably damaging |
Het |
Slc6a12 |
G |
A |
6: 121,340,716 (GRCm39) |
W534* |
probably null |
Het |
St14 |
C |
T |
9: 31,008,476 (GRCm39) |
C488Y |
probably damaging |
Het |
Supt16 |
A |
G |
14: 52,414,065 (GRCm39) |
|
probably null |
Het |
Tanc2 |
A |
G |
11: 105,814,460 (GRCm39) |
Y1968C |
probably damaging |
Het |
Tcaim |
T |
A |
9: 122,647,897 (GRCm39) |
Y137* |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tpm3 |
A |
T |
3: 89,997,389 (GRCm39) |
|
probably null |
Het |
Trip12 |
A |
T |
1: 84,746,352 (GRCm39) |
N475K |
probably damaging |
Het |
Twnk |
G |
T |
19: 44,996,815 (GRCm39) |
|
probably null |
Het |
Zfp799 |
G |
T |
17: 33,039,651 (GRCm39) |
T204N |
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 |
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'- CTTTTGGGGAGCAGTAGACATGACC -3'
(R):5'- TGTGGAGTCAGTCATAGACCAGATGAG -3'
Sequencing Primer
(F):5'- GGAGCAGTAGACATGACCATTTTTG -3'
(R):5'- gctctcctaccccagcc -3'
|
Posted On |
2014-03-28 |