Incidental Mutation 'R7024:Zfp287'
| ID |
545851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp287
|
| Ensembl Gene |
ENSMUSG00000005267 |
| Gene Name |
zinc finger protein 287 |
| Synonyms |
SKAT-2, B230333C16Rik |
| MMRRC Submission |
045125-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7024 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62591182-62622731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62605764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 370
(L370H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005399
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005399]
[ENSMUST00000149228]
[ENSMUST00000150336]
[ENSMUST00000185656]
|
| AlphaFold |
Q9EQB9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005399
AA Change: L370H
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: L370H
| 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 |
possibly damaging
Transcript: ENSMUST00000149228
AA Change: L381H
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: L381H
| 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 |
possibly damaging
Transcript: ENSMUST00000185656
AA Change: L381H
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: L381H
| 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 |
0.1757 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (61/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
A |
G |
16: 88,424,108 (GRCm39) |
S128P |
probably damaging |
Het |
| Abcc1 |
G |
C |
16: 14,231,247 (GRCm39) |
|
probably null |
Het |
| Atg2a |
G |
A |
19: 6,300,249 (GRCm39) |
G686S |
possibly damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,626,882 (GRCm39) |
|
probably null |
Het |
| Brd4 |
T |
C |
17: 32,440,884 (GRCm39) |
|
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,658,242 (GRCm39) |
E688G |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,891,271 (GRCm39) |
S1402R |
probably benign |
Het |
| Ccnb1 |
A |
G |
13: 100,922,888 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
G |
A |
12: 111,292,519 (GRCm39) |
H339Y |
probably damaging |
Het |
| Ciart |
T |
A |
3: 95,786,392 (GRCm39) |
T94S |
probably benign |
Het |
| Col6a5 |
T |
A |
9: 105,789,674 (GRCm39) |
K1540* |
probably null |
Het |
| Csmd3 |
A |
T |
15: 47,574,387 (GRCm39) |
V1969E |
probably damaging |
Het |
| Dgka |
T |
G |
10: 128,556,356 (GRCm39) |
N710T |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,731,666 (GRCm39) |
V1212A |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,928,278 (GRCm39) |
V116A |
possibly damaging |
Het |
| En1 |
C |
T |
1: 120,531,051 (GRCm39) |
P97L |
unknown |
Het |
| Esd |
T |
A |
14: 74,982,102 (GRCm39) |
F172L |
probably damaging |
Het |
| Gfer |
C |
A |
17: 24,914,942 (GRCm39) |
D34Y |
probably damaging |
Het |
| Gm2832 |
G |
A |
14: 41,001,696 (GRCm39) |
M68I |
|
Het |
| Hmgcr |
A |
G |
13: 96,795,418 (GRCm39) |
S384P |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,546 (GRCm39) |
T299A |
possibly damaging |
Het |
| Igsf10 |
A |
G |
3: 59,239,122 (GRCm39) |
M353T |
probably benign |
Het |
| Ino80b |
T |
C |
6: 83,099,306 (GRCm39) |
T211A |
probably benign |
Het |
| Lamb2 |
C |
A |
9: 108,366,687 (GRCm39) |
T1607K |
probably benign |
Het |
| Lhfpl5 |
A |
G |
17: 28,801,957 (GRCm39) |
E218G |
probably benign |
Het |
| Lpo |
C |
A |
11: 87,707,269 (GRCm39) |
C248F |
probably damaging |
Het |
| Lrrc3 |
C |
T |
10: 77,736,825 (GRCm39) |
D204N |
probably damaging |
Het |
| Mavs |
C |
A |
2: 131,085,051 (GRCm39) |
L160I |
probably benign |
Het |
| Morn4 |
C |
T |
19: 42,066,483 (GRCm39) |
D35N |
possibly damaging |
Het |
| Mroh8 |
G |
A |
2: 157,063,183 (GRCm39) |
H813Y |
probably benign |
Het |
| Myf6 |
T |
C |
10: 107,330,390 (GRCm39) |
E59G |
probably damaging |
Het |
| Nhsl3 |
T |
A |
4: 129,119,201 (GRCm39) |
E173V |
probably null |
Het |
| Nlrp10 |
T |
A |
7: 108,524,405 (GRCm39) |
E358D |
possibly damaging |
Het |
| Odad2 |
A |
C |
18: 7,211,593 (GRCm39) |
D760E |
probably benign |
Het |
| Optn |
T |
C |
2: 5,057,648 (GRCm39) |
|
probably null |
Het |
| Or12e8 |
A |
G |
2: 87,188,066 (GRCm39) |
T93A |
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,902,759 (GRCm39) |
I49T |
possibly damaging |
Het |
| Or1e1d-ps1 |
T |
A |
11: 73,819,332 (GRCm39) |
L94* |
probably null |
Het |
| Or1o1 |
T |
C |
17: 37,717,095 (GRCm39) |
F219L |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,551,952 (GRCm39) |
F68I |
probably damaging |
Het |
| Or7g28 |
T |
C |
9: 19,272,579 (GRCm39) |
E24G |
possibly damaging |
Het |
| Plxna4 |
T |
A |
6: 32,169,204 (GRCm39) |
H1331L |
probably damaging |
Het |
| Poli |
A |
T |
18: 70,649,920 (GRCm39) |
M357K |
possibly damaging |
Het |
| Psd4 |
T |
G |
2: 24,284,555 (GRCm39) |
C140G |
possibly damaging |
Het |
| Rab3gap1 |
T |
A |
1: 127,818,835 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,681,826 (GRCm39) |
N41S |
probably benign |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,407 (GRCm39) |
S532P |
probably benign |
Het |
| S100a3 |
T |
A |
3: 90,509,747 (GRCm39) |
|
probably null |
Het |
| Sfrp5 |
T |
C |
19: 42,190,204 (GRCm39) |
K83E |
possibly damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,780,434 (GRCm39) |
I119V |
probably benign |
Het |
| Snx15 |
T |
A |
19: 6,170,626 (GRCm39) |
Q271L |
probably damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,178,605 (GRCm39) |
S1128I |
probably damaging |
Het |
| Tbc1d7 |
A |
T |
13: 43,308,211 (GRCm39) |
F85I |
probably damaging |
Het |
| Thoc7 |
A |
G |
14: 13,953,528 (GRCm38) |
Y46H |
probably damaging |
Het |
| Top1mt |
T |
A |
15: 75,539,297 (GRCm39) |
Y366F |
probably damaging |
Het |
| Trpv2 |
C |
A |
11: 62,475,287 (GRCm39) |
S233R |
probably benign |
Het |
| Vav1 |
C |
A |
17: 57,586,268 (GRCm39) |
T24N |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdfy4 |
G |
T |
14: 32,686,583 (GRCm39) |
|
probably null |
Het |
| Wdr3 |
A |
G |
3: 100,062,313 (GRCm39) |
S201P |
probably benign |
Het |
| Wfs1 |
C |
T |
5: 37,124,294 (GRCm39) |
D866N |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,942,687 (GRCm39) |
|
probably benign |
Het |
| Xpot |
G |
T |
10: 121,438,304 (GRCm39) |
Q762K |
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 |
|
|
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 |
|
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'- CCCACAGTCCTCACATTTGTAGG -3'
(R):5'- CCTAGGGGTCCAGTTTGATACC -3'
Sequencing Primer
(F):5'- ACAGTCCTCACATTTGTAGGGTTTC -3'
(R):5'- CCAGTCGGATGATAAAACTGCTCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation