Incidental Mutation 'R2045:Zfp287'
| ID |
221857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp287
|
| Ensembl Gene |
ENSMUSG00000005267 |
| Gene Name |
zinc finger protein 287 |
| Synonyms |
SKAT-2, B230333C16Rik |
| MMRRC Submission |
040052-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2045 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62591182-62622731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62618395 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 157
(L157P)
|
| 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: L146P
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: L146P
| 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: L146P
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117179
Gene: ENSMUSG00000005267
AA Change: L146P
| Domain | Start | End | E-Value | Type |
|---|
|
SCAN
|
27 |
138 |
1e-50 |
SMART |
|
KRAB
|
155 |
212 |
5.79e-20 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149228
AA Change: L157P
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: L157P
| 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: L157P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121717
Gene: ENSMUSG00000005267
AA Change: L157P
| 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: L157P
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: L157P
| 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 |
0.0995 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (74/74) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
C |
T |
19: 34,220,799 (GRCm39) |
G303E |
probably damaging |
Het |
| Adamts1 |
A |
T |
16: 85,592,864 (GRCm39) |
Y515N |
probably damaging |
Het |
| Ankef1 |
T |
C |
2: 136,396,658 (GRCm39) |
V695A |
probably benign |
Het |
| Ankrd63 |
C |
A |
2: 118,533,834 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
A |
T |
19: 32,030,356 (GRCm39) |
N105K |
probably benign |
Het |
| Atf2 |
A |
C |
2: 73,693,552 (GRCm39) |
D3E |
probably damaging |
Het |
| Atp5pb |
T |
C |
3: 105,851,190 (GRCm39) |
|
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bms1 |
A |
C |
6: 118,369,588 (GRCm39) |
L960W |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,633,098 (GRCm39) |
V977A |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,839,121 (GRCm39) |
S6P |
possibly damaging |
Het |
| Capn8 |
A |
G |
1: 182,440,951 (GRCm39) |
T462A |
probably benign |
Het |
| Cd226 |
T |
C |
18: 89,225,486 (GRCm39) |
S128P |
probably benign |
Het |
| Cd33 |
G |
T |
7: 43,179,316 (GRCm39) |
H278N |
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,392,814 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,874,671 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
G |
1: 134,078,882 (GRCm39) |
I397M |
probably benign |
Het |
| Cic |
C |
A |
7: 24,970,961 (GRCm39) |
Q231K |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,630,924 (GRCm39) |
V312A |
probably damaging |
Het |
| Cngb1 |
T |
A |
8: 96,023,713 (GRCm39) |
|
probably null |
Het |
| Cyfip2 |
T |
C |
11: 46,140,616 (GRCm39) |
I430V |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,503,485 (GRCm39) |
E1613G |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,244,106 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
A |
T |
9: 7,160,171 (GRCm39) |
F646I |
probably damaging |
Het |
| Eef1b2 |
A |
T |
1: 63,218,646 (GRCm39) |
K144* |
probably null |
Het |
| Erap1 |
T |
C |
13: 74,817,569 (GRCm39) |
V137A |
probably benign |
Het |
| Far1 |
A |
T |
7: 113,138,478 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,223,730 (GRCm39) |
C807S |
probably damaging |
Het |
| Fgfr1 |
A |
G |
8: 26,048,231 (GRCm39) |
K209R |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Frem2 |
A |
T |
3: 53,443,165 (GRCm39) |
V2533D |
probably damaging |
Het |
| Hip1r |
T |
C |
5: 124,138,794 (GRCm39) |
M839T |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,891,310 (GRCm39) |
S303G |
probably benign |
Het |
| Insyn2a |
T |
G |
7: 134,520,159 (GRCm39) |
K124Q |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Itgb3 |
T |
G |
11: 104,514,239 (GRCm39) |
S27A |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,088,051 (GRCm39) |
D1015N |
probably damaging |
Het |
| Krt7 |
A |
T |
15: 101,321,365 (GRCm39) |
|
probably null |
Het |
| Krtdap |
T |
A |
7: 30,490,010 (GRCm39) |
F80L |
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,437,841 (GRCm39) |
T84S |
probably benign |
Het |
| Lipi |
G |
A |
16: 75,347,087 (GRCm39) |
T444I |
probably damaging |
Het |
| Lrguk |
A |
T |
6: 34,048,003 (GRCm39) |
E316V |
probably damaging |
Het |
| Lypd1 |
G |
A |
1: 125,838,272 (GRCm39) |
|
probably benign |
Het |
| Med12l |
A |
T |
3: 59,169,731 (GRCm39) |
K1632* |
probably null |
Het |
| Mrgpra9 |
A |
T |
7: 46,885,583 (GRCm39) |
M28K |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,774,023 (GRCm39) |
K1291E |
probably benign |
Het |
| Nek4 |
T |
A |
14: 30,675,880 (GRCm39) |
W72R |
probably damaging |
Het |
| Nudt8 |
T |
C |
19: 4,051,899 (GRCm39) |
V170A |
probably damaging |
Het |
| Oosp3 |
T |
A |
19: 11,676,733 (GRCm39) |
Y31N |
probably benign |
Het |
| Padi2 |
A |
T |
4: 140,665,241 (GRCm39) |
R449W |
probably damaging |
Het |
| Pcf11 |
G |
T |
7: 92,311,087 (GRCm39) |
N300K |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,558,508 (GRCm39) |
D633G |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,634,232 (GRCm39) |
W271R |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,512 (GRCm39) |
V1276A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,343,050 (GRCm39) |
N176Y |
probably damaging |
Het |
| Pop5 |
T |
G |
5: 115,376,271 (GRCm39) |
V33G |
possibly damaging |
Het |
| Prkag2 |
A |
G |
5: 25,152,580 (GRCm39) |
F175L |
possibly damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,781,337 (GRCm39) |
D79E |
possibly damaging |
Het |
| Rab32 |
T |
G |
10: 10,426,577 (GRCm39) |
D123A |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,402,009 (GRCm39) |
K513E |
possibly damaging |
Het |
| Senp1 |
A |
T |
15: 97,957,825 (GRCm39) |
F358I |
possibly damaging |
Het |
| Sft2d2 |
A |
G |
1: 165,012,647 (GRCm39) |
L83P |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,400,613 (GRCm39) |
R741H |
probably damaging |
Het |
| Smad4 |
A |
T |
18: 73,782,877 (GRCm39) |
Y352* |
probably null |
Het |
| Tamm41 |
T |
A |
6: 114,993,056 (GRCm39) |
Q232H |
probably benign |
Het |
| Tbx6 |
T |
A |
7: 126,382,055 (GRCm39) |
L131Q |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,045,313 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
C |
A |
2: 121,034,964 (GRCm39) |
A108S |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,948,470 (GRCm39) |
Y215C |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,091,266 (GRCm39) |
V31M |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,258,177 (GRCm39) |
M1525T |
possibly damaging |
Het |
| Vax2 |
G |
A |
6: 83,688,252 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,839,104 (GRCm39) |
I2147L |
probably benign |
Het |
| Zbtb7a |
C |
A |
10: 80,980,244 (GRCm39) |
A146E |
probably benign |
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 |
|
R2023:Zfp287
|
UTSW |
11 |
62,605,808 (GRCm39) |
nonsense |
probably null |
|
|
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'- AAGGCAAAGTCTATTTTCTGGC -3'
(R):5'- GCCTTCTTACGTTAAGGAAGTG -3'
Sequencing Primer
(F):5'- CTGGCATTGAATAACTTAGGCTG -3'
(R):5'- CTTACGTTAAGGAAGTGTAGACGTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation