Incidental Mutation 'R6349:Zfp287'
| ID |
512450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp287
|
| Ensembl Gene |
ENSMUSG00000005267 |
| Gene Name |
zinc finger protein 287 |
| Synonyms |
SKAT-2, B230333C16Rik |
| MMRRC Submission |
044503-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6349 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
62591182-62622731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 62616168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 174
(D174E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005399]
[ENSMUST00000128370]
[ENSMUST00000149228]
[ENSMUST00000150336]
[ENSMUST00000185656]
|
| AlphaFold |
Q9EQB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005399
AA Change: D163E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: D163E
| 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 |
possibly damaging
Transcript: ENSMUST00000128370
AA Change: D163E
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000117179
Gene: ENSMUSG00000005267
AA Change: D163E
| 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: D174E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: D174E
| 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 |
possibly damaging
Transcript: ENSMUST00000150336
AA Change: D174E
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121717
Gene: ENSMUSG00000005267
AA Change: D174E
| 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: D174E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: D174E
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.6%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012A03Rik |
A |
G |
6: 32,028,595 (GRCm39) |
Y9C |
probably benign |
Het |
| 4930433I11Rik |
A |
C |
7: 40,644,196 (GRCm39) |
M622L |
possibly damaging |
Het |
| Abca8b |
C |
T |
11: 109,825,544 (GRCm39) |
|
probably null |
Het |
| Adam28 |
T |
C |
14: 68,870,621 (GRCm39) |
I351V |
probably benign |
Het |
| Adgrd1 |
A |
C |
5: 129,219,603 (GRCm39) |
|
probably null |
Het |
| Ank3 |
T |
A |
10: 69,815,269 (GRCm39) |
I473N |
probably damaging |
Het |
| Ankrd6 |
A |
T |
4: 32,822,231 (GRCm39) |
H179Q |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,863,903 (GRCm39) |
R808G |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,819,850 (GRCm39) |
I280F |
probably damaging |
Het |
| Asb2 |
C |
T |
12: 103,312,118 (GRCm39) |
M1I |
probably null |
Het |
| Astn1 |
C |
T |
1: 158,491,691 (GRCm39) |
Q1023* |
probably null |
Het |
| Cast |
T |
A |
13: 74,869,314 (GRCm39) |
E542D |
probably damaging |
Het |
| Ccdc162 |
C |
T |
10: 41,570,396 (GRCm39) |
E30K |
probably damaging |
Het |
| Ccdc87 |
T |
C |
19: 4,891,347 (GRCm39) |
V613A |
probably damaging |
Het |
| Cdk13 |
T |
C |
13: 17,926,304 (GRCm39) |
N832S |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,915,885 (GRCm39) |
N696I |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,254,857 (GRCm39) |
E161G |
possibly damaging |
Het |
| Cxcr4 |
C |
A |
1: 128,517,014 (GRCm39) |
V216F |
possibly damaging |
Het |
| Cyp4a10 |
A |
G |
4: 115,382,555 (GRCm39) |
I282V |
probably benign |
Het |
| Deaf1 |
T |
C |
7: 140,902,863 (GRCm39) |
T154A |
possibly damaging |
Het |
| Dido1 |
A |
T |
2: 180,302,494 (GRCm39) |
D1803E |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,238,657 (GRCm39) |
V400M |
probably damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,982,267 (GRCm39) |
I240V |
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,159,803 (GRCm39) |
C484R |
probably damaging |
Het |
| Fech |
G |
T |
18: 64,603,856 (GRCm39) |
Y164* |
probably null |
Het |
| Fer1l5 |
T |
A |
1: 36,450,355 (GRCm39) |
W1175R |
probably damaging |
Het |
| Fgfrl1 |
T |
C |
5: 108,853,372 (GRCm39) |
Y241H |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,793,974 (GRCm39) |
Y117H |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,823,416 (GRCm39) |
M6383K |
probably benign |
Het |
| Gcc2 |
T |
A |
10: 58,105,296 (GRCm39) |
D141E |
probably benign |
Het |
| Glt1d1 |
A |
C |
5: 127,783,950 (GRCm39) |
R301S |
probably benign |
Het |
| Hars1 |
G |
C |
18: 36,916,107 (GRCm39) |
A16G |
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,278,385 (GRCm39) |
G1696C |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,145,091 (GRCm39) |
L814* |
probably null |
Het |
| Izumo4 |
T |
A |
10: 80,538,551 (GRCm39) |
M1K |
probably null |
Het |
| Kdm5d |
T |
A |
Y: 916,847 (GRCm39) |
M414K |
probably damaging |
Homo |
| Kif21b |
G |
A |
1: 136,086,064 (GRCm39) |
V812I |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 31,988,661 (GRCm39) |
D270G |
possibly damaging |
Het |
| Mical3 |
A |
G |
6: 120,936,486 (GRCm39) |
S1347P |
probably benign |
Het |
| Mras |
T |
A |
9: 99,276,669 (GRCm39) |
D67V |
probably damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,509 (GRCm39) |
Y183* |
probably null |
Het |
| Muc16 |
A |
T |
9: 18,568,625 (GRCm39) |
L1298Q |
unknown |
Het |
| Myh2 |
A |
T |
11: 67,083,829 (GRCm39) |
I1536F |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,957,787 (GRCm39) |
I221T |
possibly damaging |
Het |
| Osmr |
G |
T |
15: 6,850,544 (GRCm39) |
D686E |
probably benign |
Het |
| Pah |
T |
A |
10: 87,414,831 (GRCm39) |
D394E |
probably benign |
Het |
| Pla1a |
T |
A |
16: 38,237,486 (GRCm39) |
S71C |
probably benign |
Het |
| Proc |
T |
A |
18: 32,266,486 (GRCm39) |
I114L |
probably benign |
Het |
| Psd |
T |
G |
19: 46,301,826 (GRCm39) |
|
probably null |
Het |
| Psmb6 |
C |
T |
11: 70,418,364 (GRCm39) |
Q226* |
probably null |
Het |
| Rnpepl1 |
A |
T |
1: 92,847,563 (GRCm39) |
N717Y |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,324,988 (GRCm39) |
S565P |
probably benign |
Het |
| Serpinb5 |
T |
A |
1: 106,809,495 (GRCm39) |
S300R |
probably benign |
Het |
| Serpinf2 |
T |
C |
11: 75,323,257 (GRCm39) |
D483G |
probably damaging |
Het |
| Sgsm3 |
T |
C |
15: 80,892,547 (GRCm39) |
I291T |
probably benign |
Het |
| Smg6 |
T |
A |
11: 74,944,600 (GRCm39) |
D116E |
possibly damaging |
Het |
| Srfbp1 |
G |
T |
18: 52,622,034 (GRCm39) |
S365I |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,835,872 (GRCm39) |
T236A |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,924,870 (GRCm39) |
V251A |
probably benign |
Het |
| Tcf25 |
A |
G |
8: 124,118,332 (GRCm39) |
Y314C |
probably damaging |
Het |
| Tmem210 |
A |
G |
2: 25,179,048 (GRCm39) |
D112G |
possibly damaging |
Het |
| Tubb2b |
A |
G |
13: 34,311,528 (GRCm39) |
Y422H |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,305,872 (GRCm39) |
S332P |
possibly damaging |
Het |
| Vmn1r29 |
A |
C |
6: 58,284,412 (GRCm39) |
Q44P |
probably damaging |
Het |
| Vrtn |
T |
C |
12: 84,695,792 (GRCm39) |
S181P |
probably damaging |
Het |
| Wdr76 |
T |
A |
2: 121,364,712 (GRCm39) |
Y437N |
possibly damaging |
Het |
| Zc3h18 |
C |
A |
8: 123,135,025 (GRCm39) |
|
probably benign |
Het |
| Zfp800 |
A |
T |
6: 28,244,601 (GRCm39) |
Y121* |
probably null |
Het |
| Zfyve19 |
T |
A |
2: 119,041,078 (GRCm39) |
L57Q |
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 |
|
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 |
|
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'- CAGGAGCCTAACCTCATGTTTAGC -3'
(R):5'- TCAGTCATAGACCAGATGAGGG -3'
Sequencing Primer
(F):5'- GCCTAACCTCATGTTTAGCAAGGAG -3'
(R):5'- GTTAAGACAGGTCTCACCATGTAGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation