Incidental Mutation 'R6964:Zfp287'
| ID |
541897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp287
|
| Ensembl Gene |
ENSMUSG00000005267 |
| Gene Name |
zinc finger protein 287 |
| Synonyms |
B230333C16Rik, SKAT-2 |
| MMRRC Submission |
045074-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6964 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
62700356-62731905 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62724817 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 228
(I228N)
|
| 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: I217N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: I217N
| 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 damaging
Transcript: ENSMUST00000128370
AA Change: I217N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117179
Gene: ENSMUSG00000005267
AA Change: I217N
| 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: I228N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: I228N
| 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: I228N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121717
Gene: ENSMUSG00000005267
AA Change: I228N
| 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: I228N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: I228N
| 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 |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
A |
T |
16: 98,065,759 (GRCm38) |
Y334* |
probably null |
Het |
| Abcc2 |
A |
C |
19: 43,798,076 (GRCm38) |
I116L |
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,909,400 (GRCm38) |
Y313N |
possibly damaging |
Het |
| Adamts17 |
A |
G |
7: 67,004,353 (GRCm38) |
T444A |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,156,854 (GRCm38) |
I153V |
probably damaging |
Het |
| Ambra1 |
C |
T |
2: 91,917,416 (GRCm38) |
Q1046* |
probably null |
Het |
| Ap1g2 |
A |
T |
14: 55,099,265 (GRCm38) |
V750D |
possibly damaging |
Het |
| Bcl7a |
T |
C |
5: 123,369,456 (GRCm38) |
|
probably null |
Het |
| C4bp |
A |
T |
1: 130,657,272 (GRCm38) |
L9Q |
probably damaging |
Het |
| Cadps2 |
A |
C |
6: 23,583,459 (GRCm38) |
V344G |
probably damaging |
Het |
| Car7 |
A |
G |
8: 104,543,581 (GRCm38) |
D15G |
possibly damaging |
Het |
| Cep126 |
G |
C |
9: 8,112,100 (GRCm38) |
H157Q |
probably null |
Het |
| Chst11 |
C |
T |
10: 83,191,381 (GRCm38) |
T214I |
probably damaging |
Het |
| Cntrob |
G |
A |
11: 69,309,491 (GRCm38) |
R526* |
probably null |
Het |
| Cul1 |
A |
G |
6: 47,516,509 (GRCm38) |
T445A |
probably benign |
Het |
| Dclre1c |
T |
C |
2: 3,453,169 (GRCm38) |
V363A |
possibly damaging |
Het |
| Ddx58 |
A |
G |
4: 40,225,697 (GRCm38) |
S235P |
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,503,648 (GRCm38) |
|
probably benign |
Het |
| Donson |
A |
G |
16: 91,681,219 (GRCm38) |
Y465H |
probably benign |
Het |
| Eif3e |
G |
A |
15: 43,272,289 (GRCm38) |
A118V |
probably benign |
Het |
| Fam47e |
A |
T |
5: 92,566,052 (GRCm38) |
Q180L |
probably damaging |
Het |
| Fat1 |
T |
G |
8: 45,043,945 (GRCm38) |
C4156G |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,465,142 (GRCm38) |
I441K |
probably damaging |
Het |
| Frmd4b |
C |
T |
6: 97,305,197 (GRCm38) |
R510Q |
probably damaging |
Het |
| Fscn1 |
C |
T |
5: 142,960,660 (GRCm38) |
A71V |
probably damaging |
Het |
| Gfap |
G |
A |
11: 102,896,957 (GRCm38) |
A54V |
possibly damaging |
Het |
| Gjc3 |
C |
T |
5: 137,957,497 (GRCm38) |
M175I |
probably benign |
Het |
| Gm10645 |
C |
T |
8: 83,165,952 (GRCm38) |
|
probably benign |
Het |
| Haus5 |
G |
A |
7: 30,657,615 (GRCm38) |
P464S |
probably benign |
Het |
| Helz2 |
T |
A |
2: 181,230,428 (GRCm38) |
I2584F |
probably damaging |
Het |
| Mak |
T |
A |
13: 41,032,591 (GRCm38) |
I534L |
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,773,003 (GRCm38) |
D159G |
probably benign |
Het |
| Mcat |
A |
G |
15: 83,547,931 (GRCm38) |
|
probably benign |
Het |
| Meltf |
A |
G |
16: 31,880,162 (GRCm38) |
D30G |
probably benign |
Het |
| Ntng2 |
T |
A |
2: 29,197,029 (GRCm38) |
Y452F |
probably benign |
Het |
| Olfr1130 |
T |
C |
2: 87,607,613 (GRCm38) |
L75P |
probably damaging |
Het |
| Olfr1245 |
T |
A |
2: 89,574,989 (GRCm38) |
I246F |
probably benign |
Het |
| Olfr1474 |
T |
A |
19: 13,471,361 (GRCm38) |
Y130* |
probably null |
Het |
| Olfr473 |
A |
T |
7: 107,933,759 (GRCm38) |
I80L |
probably benign |
Het |
| Paip1 |
C |
T |
13: 119,450,770 (GRCm38) |
T390I |
possibly damaging |
Het |
| Pianp |
T |
A |
6: 124,999,390 (GRCm38) |
V54D |
possibly damaging |
Het |
| Ptprn |
T |
C |
1: 75,260,649 (GRCm38) |
D103G |
possibly damaging |
Het |
| Rhcg |
A |
G |
7: 79,600,531 (GRCm38) |
V268A |
probably benign |
Het |
| Rhoj |
T |
A |
12: 75,375,389 (GRCm38) |
Y74N |
probably damaging |
Het |
| Snx13 |
A |
C |
12: 35,119,789 (GRCm38) |
T578P |
possibly damaging |
Het |
| Star |
T |
A |
8: 25,811,823 (GRCm38) |
H227Q |
probably benign |
Het |
| Stau2 |
A |
C |
1: 16,390,005 (GRCm38) |
M204R |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 7,975,568 (GRCm38) |
Y43C |
probably damaging |
Het |
| Syt8 |
A |
G |
7: 142,439,421 (GRCm38) |
E21G |
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,829,739 (GRCm38) |
V156A |
probably damaging |
Het |
| Tmem106b |
C |
T |
6: 13,082,423 (GRCm38) |
T199M |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,796,292 (GRCm38) |
T1583A |
probably damaging |
Het |
| Tom1 |
G |
A |
8: 75,051,965 (GRCm38) |
V87I |
probably null |
Het |
| Treml4 |
G |
T |
17: 48,272,819 (GRCm38) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,714,113 (GRCm38) |
K32843R |
probably damaging |
Het |
| Wdr95 |
T |
G |
5: 149,581,850 (GRCm38) |
C223W |
probably damaging |
Het |
| Wipi1 |
C |
T |
11: 109,603,764 (GRCm38) |
R81Q |
probably benign |
Het |
| Zc3h7a |
G |
A |
16: 11,149,224 (GRCm38) |
T568I |
probably benign |
Het |
| Zfp606 |
T |
A |
7: 12,489,592 (GRCm38) |
V10E |
probably damaging |
Het |
|
| Other mutations in Zfp287 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01084:Zfp287
|
APN |
11 |
62,713,890 (GRCm38) |
nonsense |
probably null |
|
|
IGL01868:Zfp287
|
APN |
11 |
62,715,257 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL03290:Zfp287
|
APN |
11 |
62,715,236 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0064:Zfp287
|
UTSW |
11 |
62,714,938 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0064:Zfp287
|
UTSW |
11 |
62,714,938 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0193:Zfp287
|
UTSW |
11 |
62,715,029 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0211:Zfp287
|
UTSW |
11 |
62,714,917 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0211:Zfp287
|
UTSW |
11 |
62,714,917 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0525:Zfp287
|
UTSW |
11 |
62,715,244 (GRCm38) |
missense |
probably benign |
|
|
R0725:Zfp287
|
UTSW |
11 |
62,714,213 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1405:Zfp287
|
UTSW |
11 |
62,728,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1405:Zfp287
|
UTSW |
11 |
62,728,311 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1416:Zfp287
|
UTSW |
11 |
62,714,340 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1487:Zfp287
|
UTSW |
11 |
62,725,289 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2023:Zfp287
|
UTSW |
11 |
62,714,982 (GRCm38) |
nonsense |
probably null |
|
|
R2045:Zfp287
|
UTSW |
11 |
62,727,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2495:Zfp287
|
UTSW |
11 |
62,714,633 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3794:Zfp287
|
UTSW |
11 |
62,714,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3902:Zfp287
|
UTSW |
11 |
62,712,202 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4816:Zfp287
|
UTSW |
11 |
62,714,248 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4928:Zfp287
|
UTSW |
11 |
62,714,136 (GRCm38) |
nonsense |
probably null |
|
|
R5048:Zfp287
|
UTSW |
11 |
62,714,951 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5858:Zfp287
|
UTSW |
11 |
62,714,007 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6349:Zfp287
|
UTSW |
11 |
62,725,342 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7024:Zfp287
|
UTSW |
11 |
62,714,938 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7252:Zfp287
|
UTSW |
11 |
62,724,829 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7318:Zfp287
|
UTSW |
11 |
62,714,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7548:Zfp287
|
UTSW |
11 |
62,713,875 (GRCm38) |
nonsense |
probably null |
|
|
R7658:Zfp287
|
UTSW |
11 |
62,725,263 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8916:Zfp287
|
UTSW |
11 |
62,714,310 (GRCm38) |
nonsense |
probably null |
|
|
R9295:Zfp287
|
UTSW |
11 |
62,715,289 (GRCm38) |
missense |
probably benign |
0.12 |
|
Z1186:Zfp287
|
UTSW |
11 |
62,722,931 (GRCm38) |
nonsense |
probably null |
|
|
Z1186:Zfp287
|
UTSW |
11 |
62,715,349 (GRCm38) |
missense |
probably benign |
|
|
Z1186:Zfp287
|
UTSW |
11 |
62,713,807 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1187:Zfp287
|
UTSW |
11 |
62,722,931 (GRCm38) |
nonsense |
probably null |
|
|
Z1187:Zfp287
|
UTSW |
11 |
62,715,349 (GRCm38) |
missense |
probably benign |
|
|
Z1187:Zfp287
|
UTSW |
11 |
62,713,807 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1188:Zfp287
|
UTSW |
11 |
62,722,931 (GRCm38) |
nonsense |
probably null |
|
|
Z1188:Zfp287
|
UTSW |
11 |
62,715,349 (GRCm38) |
missense |
probably benign |
|
|
Z1188:Zfp287
|
UTSW |
11 |
62,713,807 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1189:Zfp287
|
UTSW |
11 |
62,715,349 (GRCm38) |
missense |
probably benign |
|
|
Z1189:Zfp287
|
UTSW |
11 |
62,713,807 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1189:Zfp287
|
UTSW |
11 |
62,722,931 (GRCm38) |
nonsense |
probably null |
|
|
Z1190:Zfp287
|
UTSW |
11 |
62,722,931 (GRCm38) |
nonsense |
probably null |
|
|
Z1190:Zfp287
|
UTSW |
11 |
62,715,349 (GRCm38) |
missense |
probably benign |
|
|
Z1190:Zfp287
|
UTSW |
11 |
62,713,807 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1191:Zfp287
|
UTSW |
11 |
62,722,931 (GRCm38) |
nonsense |
probably null |
|
|
Z1191:Zfp287
|
UTSW |
11 |
62,715,349 (GRCm38) |
missense |
probably benign |
|
|
Z1191:Zfp287
|
UTSW |
11 |
62,713,807 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1192:Zfp287
|
UTSW |
11 |
62,722,931 (GRCm38) |
nonsense |
probably null |
|
|
Z1192:Zfp287
|
UTSW |
11 |
62,715,349 (GRCm38) |
missense |
probably benign |
|
|
Z1192:Zfp287
|
UTSW |
11 |
62,713,807 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTCGAGATGTTCTTAGAGTTG -3'
(R):5'- TACACGAGCCATTGTCTCCC -3'
Sequencing Primer
(F):5'- GAGCTCAGCAACCCTTCCTG -3'
(R):5'- ATTGTCTCCCCACAGAGGC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation