Incidental Mutation 'R6964:Zfp287'
ID |
541897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp287
|
Ensembl Gene |
ENSMUSG00000005267 |
Gene Name |
zinc finger protein 287 |
Synonyms |
SKAT-2, B230333C16Rik |
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 |
62591182-62622731 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62615643 bp (GRCm39)
|
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: 97,866,959 (GRCm39) |
Y334* |
probably null |
Het |
Abcc2 |
A |
C |
19: 43,786,515 (GRCm39) |
I116L |
probably benign |
Het |
Adamts17 |
T |
A |
7: 66,559,148 (GRCm39) |
Y313N |
possibly damaging |
Het |
Adamts17 |
A |
G |
7: 66,654,101 (GRCm39) |
T444A |
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,075,091 (GRCm39) |
I153V |
probably damaging |
Het |
Ambra1 |
C |
T |
2: 91,747,761 (GRCm39) |
Q1046* |
probably null |
Het |
Ap1g2 |
A |
T |
14: 55,336,722 (GRCm39) |
V750D |
possibly damaging |
Het |
Bcl7a |
T |
C |
5: 123,507,519 (GRCm39) |
|
probably null |
Het |
C4bp |
A |
T |
1: 130,585,009 (GRCm39) |
L9Q |
probably damaging |
Het |
Cadps2 |
A |
C |
6: 23,583,458 (GRCm39) |
V344G |
probably damaging |
Het |
Car7 |
A |
G |
8: 105,270,213 (GRCm39) |
D15G |
possibly damaging |
Het |
Cep126 |
G |
C |
9: 8,112,101 (GRCm39) |
H157Q |
probably null |
Het |
Chst11 |
C |
T |
10: 83,027,215 (GRCm39) |
T214I |
probably damaging |
Het |
Cntrob |
G |
A |
11: 69,200,317 (GRCm39) |
R526* |
probably null |
Het |
Cul1 |
A |
G |
6: 47,493,443 (GRCm39) |
T445A |
probably benign |
Het |
Dclre1c |
T |
C |
2: 3,454,206 (GRCm39) |
V363A |
possibly damaging |
Het |
Dock10 |
T |
A |
1: 80,481,365 (GRCm39) |
|
probably benign |
Het |
Donson |
A |
G |
16: 91,478,107 (GRCm39) |
Y465H |
probably benign |
Het |
Eif3e |
G |
A |
15: 43,135,685 (GRCm39) |
A118V |
probably benign |
Het |
Fam47e |
A |
T |
5: 92,713,911 (GRCm39) |
Q180L |
probably damaging |
Het |
Fat1 |
T |
G |
8: 45,496,982 (GRCm39) |
C4156G |
probably damaging |
Het |
Fermt2 |
A |
T |
14: 45,702,599 (GRCm39) |
I441K |
probably damaging |
Het |
Frmd4b |
C |
T |
6: 97,282,158 (GRCm39) |
R510Q |
probably damaging |
Het |
Fscn1 |
C |
T |
5: 142,946,415 (GRCm39) |
A71V |
probably damaging |
Het |
Gfap |
G |
A |
11: 102,787,783 (GRCm39) |
A54V |
possibly damaging |
Het |
Gjc3 |
C |
T |
5: 137,955,759 (GRCm39) |
M175I |
probably benign |
Het |
Gm10645 |
C |
T |
8: 83,892,581 (GRCm39) |
|
probably benign |
Het |
Haus5 |
G |
A |
7: 30,357,040 (GRCm39) |
P464S |
probably benign |
Het |
Helz2 |
T |
A |
2: 180,872,221 (GRCm39) |
I2584F |
probably damaging |
Het |
Mak |
T |
A |
13: 41,186,067 (GRCm39) |
I534L |
probably benign |
Het |
Map3k9 |
T |
C |
12: 81,819,777 (GRCm39) |
D159G |
probably benign |
Het |
Mcat |
A |
G |
15: 83,432,132 (GRCm39) |
|
probably benign |
Het |
Meltf |
A |
G |
16: 31,698,980 (GRCm39) |
D30G |
probably benign |
Het |
Ntng2 |
T |
A |
2: 29,087,041 (GRCm39) |
Y452F |
probably benign |
Het |
Or10ag60 |
T |
C |
2: 87,437,957 (GRCm39) |
L75P |
probably damaging |
Het |
Or4a72 |
T |
A |
2: 89,405,333 (GRCm39) |
I246F |
probably benign |
Het |
Or5b118 |
T |
A |
19: 13,448,725 (GRCm39) |
Y130* |
probably null |
Het |
Or5p53 |
A |
T |
7: 107,532,966 (GRCm39) |
I80L |
probably benign |
Het |
Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
Pianp |
T |
A |
6: 124,976,353 (GRCm39) |
V54D |
possibly damaging |
Het |
Ptprn |
T |
C |
1: 75,237,293 (GRCm39) |
D103G |
possibly damaging |
Het |
Rhcg |
A |
G |
7: 79,250,279 (GRCm39) |
V268A |
probably benign |
Het |
Rhoj |
T |
A |
12: 75,422,163 (GRCm39) |
Y74N |
probably damaging |
Het |
Rigi |
A |
G |
4: 40,225,697 (GRCm39) |
S235P |
probably benign |
Het |
Snx13 |
A |
C |
12: 35,169,788 (GRCm39) |
T578P |
possibly damaging |
Het |
Star |
T |
A |
8: 26,301,851 (GRCm39) |
H227Q |
probably benign |
Het |
Stau2 |
A |
C |
1: 16,460,229 (GRCm39) |
M204R |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,025,568 (GRCm39) |
Y43C |
probably damaging |
Het |
Syt8 |
A |
G |
7: 141,993,158 (GRCm39) |
E21G |
probably benign |
Het |
Tacr3 |
T |
C |
3: 134,535,500 (GRCm39) |
V156A |
probably damaging |
Het |
Tmem106b |
C |
T |
6: 13,082,422 (GRCm39) |
T199M |
probably benign |
Het |
Tmem131 |
T |
C |
1: 36,835,373 (GRCm39) |
T1583A |
probably damaging |
Het |
Tom1 |
G |
A |
8: 75,778,593 (GRCm39) |
V87I |
probably null |
Het |
Treml4 |
G |
T |
17: 48,579,847 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,544,457 (GRCm39) |
K32843R |
probably damaging |
Het |
Wdr95 |
T |
G |
5: 149,505,315 (GRCm39) |
C223W |
probably damaging |
Het |
Wipi1 |
C |
T |
11: 109,494,590 (GRCm39) |
R81Q |
probably benign |
Het |
Zc3h7a |
G |
A |
16: 10,967,088 (GRCm39) |
T568I |
probably benign |
Het |
Zfp606 |
T |
A |
7: 12,223,519 (GRCm39) |
V10E |
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 |
R6349:Zfp287
|
UTSW |
11 |
62,616,168 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CCCTCGAGATGTTCTTAGAGTTG -3'
(R):5'- TACACGAGCCATTGTCTCCC -3'
Sequencing Primer
(F):5'- GAGCTCAGCAACCCTTCCTG -3'
(R):5'- ATTGTCTCCCCACAGAGGC -3'
|
Posted On |
2018-11-28 |