Incidental Mutation 'R2495:Zfp287'
| ID |
250996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp287
|
| Ensembl Gene |
ENSMUSG00000005267 |
| Gene Name |
zinc finger protein 287 |
| Synonyms |
SKAT-2, B230333C16Rik |
| MMRRC Submission |
040409-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2495 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62591182-62622731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62605459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 483
(C483S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005399]
[ENSMUST00000149228]
[ENSMUST00000150336]
[ENSMUST00000185656]
|
| AlphaFold |
Q9EQB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005399
AA Change: C472S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: C472S
| 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: ENSMUST00000149228
AA Change: C483S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: C483S
| 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 |
probably damaging
Transcript: ENSMUST00000185656
AA Change: C483S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: C483S
| 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 |
0.4565 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (63/64) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,536,109 (GRCm39) |
F125S |
unknown |
Het |
| Abhd17c |
C |
T |
7: 83,759,884 (GRCm39) |
W290* |
probably null |
Het |
| Acsl5 |
A |
T |
19: 55,282,031 (GRCm39) |
K536* |
probably null |
Het |
| Adamts14 |
A |
T |
10: 61,034,749 (GRCm39) |
|
probably null |
Het |
| Agbl3 |
A |
G |
6: 34,823,699 (GRCm39) |
H788R |
probably damaging |
Het |
| Agrp |
T |
C |
8: 106,293,408 (GRCm39) |
N126D |
possibly damaging |
Het |
| Ambn |
T |
C |
5: 88,615,663 (GRCm39) |
I349T |
probably benign |
Het |
| Ank1 |
T |
C |
8: 23,622,280 (GRCm39) |
W1610R |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,227,567 (GRCm39) |
L1224P |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,165,881 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
G |
A |
12: 107,881,706 (GRCm39) |
H798Y |
possibly damaging |
Het |
| Capn11 |
T |
A |
17: 45,949,689 (GRCm39) |
M426L |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,700,108 (GRCm39) |
K290E |
possibly damaging |
Het |
| Cic |
A |
G |
7: 24,991,201 (GRCm39) |
|
probably benign |
Het |
| Cnbd1 |
A |
T |
4: 18,860,579 (GRCm39) |
M389K |
probably damaging |
Het |
| Cnksr1 |
A |
T |
4: 133,959,473 (GRCm39) |
L387Q |
probably benign |
Het |
| Cntrob |
G |
T |
11: 69,213,749 (GRCm39) |
P14T |
probably damaging |
Het |
| Crmp1 |
G |
A |
5: 37,403,441 (GRCm39) |
|
probably null |
Het |
| Dido1 |
A |
G |
2: 180,331,181 (GRCm39) |
V89A |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,645,040 (GRCm39) |
I999F |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,377,453 (GRCm39) |
L1746Q |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,238,454 (GRCm39) |
S3897P |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,040,545 (GRCm39) |
F887L |
probably benign |
Het |
| Gm21961 |
T |
A |
15: 64,886,722 (GRCm39) |
H11L |
unknown |
Het |
| Gm4559 |
A |
T |
7: 141,827,557 (GRCm39) |
C182S |
unknown |
Het |
| Golga3 |
T |
A |
5: 110,355,462 (GRCm39) |
S939T |
probably damaging |
Het |
| Got2 |
A |
G |
8: 96,614,918 (GRCm39) |
S6P |
possibly damaging |
Het |
| Gpatch8 |
A |
T |
11: 102,369,307 (GRCm39) |
H1410Q |
probably damaging |
Het |
| Gpx5 |
T |
A |
13: 21,475,610 (GRCm39) |
T39S |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,710,180 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Gsn |
A |
C |
2: 35,193,205 (GRCm39) |
N538T |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,874,705 (GRCm39) |
S1930P |
probably damaging |
Het |
| Krt6b |
A |
T |
15: 101,586,757 (GRCm39) |
F286Y |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 103,038,242 (GRCm39) |
R854C |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,507,776 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,626,819 (GRCm39) |
|
probably benign |
Het |
| Msc |
T |
G |
1: 14,825,473 (GRCm39) |
Y167S |
probably benign |
Het |
| Mycbp2 |
T |
G |
14: 103,437,554 (GRCm39) |
K2103Q |
probably damaging |
Het |
| Myh11 |
C |
A |
16: 14,023,421 (GRCm39) |
D1586Y |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,118,427 (GRCm39) |
D791E |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,746,616 (GRCm39) |
T1272A |
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,247,105 (GRCm39) |
L15P |
probably damaging |
Het |
| Ptprk |
A |
T |
10: 28,351,074 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,203,320 (GRCm39) |
D1091E |
possibly damaging |
Het |
| Rbbp8nl |
C |
A |
2: 179,920,895 (GRCm39) |
K496N |
probably null |
Het |
| Rbm26 |
T |
C |
14: 105,388,748 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
A |
C |
10: 51,602,771 (GRCm39) |
|
probably benign |
Het |
| Rras |
G |
A |
7: 44,667,488 (GRCm39) |
G17R |
probably damaging |
Het |
| Shisa6 |
G |
A |
11: 66,108,459 (GRCm39) |
P473S |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,306,822 (GRCm39) |
K316E |
probably damaging |
Het |
| Slco1a7 |
C |
A |
6: 141,711,503 (GRCm39) |
M69I |
probably benign |
Het |
| Spata31d1a |
A |
G |
13: 59,849,807 (GRCm39) |
S774P |
possibly damaging |
Het |
| Spsb4 |
T |
C |
9: 96,877,840 (GRCm39) |
Y161C |
probably damaging |
Het |
| Taf3 |
G |
T |
2: 9,957,644 (GRCm39) |
N174K |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trnt1 |
T |
A |
6: 106,750,330 (GRCm39) |
V78E |
possibly damaging |
Het |
| Ubox5 |
A |
T |
2: 130,441,441 (GRCm39) |
C415* |
probably null |
Het |
| Ucn2 |
C |
T |
9: 108,815,477 (GRCm39) |
P80S |
possibly damaging |
Het |
| Vmn2r10 |
G |
A |
5: 109,143,961 (GRCm39) |
T663I |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,685,222 (GRCm39) |
F337L |
probably null |
Het |
| Zyg11b |
A |
G |
4: 108,101,921 (GRCm39) |
|
probably null |
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 |
|
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'- GTTTGCACCCTGTCTGTAAGC -3'
(R):5'- TGAGTGTGAAGAATGCGGCA -3'
Sequencing Primer
(F):5'- TAAGTGCTCTGGCTGAACAC -3'
(R):5'- TACGAATGCCACCAGTGTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation