Incidental Mutation 'R1416:Zfp287'
ID |
159599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp287
|
Ensembl Gene |
ENSMUSG00000005267 |
Gene Name |
zinc finger protein 287 |
Synonyms |
SKAT-2, B230333C16Rik |
MMRRC Submission |
039472-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1416 (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 62605166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 580
(H580Q)
|
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: H569Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000005399 Gene: ENSMUSG00000005267 AA Change: H569Q
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: H580Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114531 Gene: ENSMUSG00000005267 AA Change: H580Q
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: H580Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141046 Gene: ENSMUSG00000005267 AA Change: H580Q
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 |
0.6555 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
Validation Efficiency |
94% (63/67) |
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 |
Acad11 |
T |
C |
9: 103,950,822 (GRCm39) |
S49P |
probably damaging |
Het |
Afm |
T |
C |
5: 90,674,238 (GRCm39) |
I250T |
possibly damaging |
Het |
Alox5 |
G |
A |
6: 116,400,106 (GRCm39) |
Q278* |
probably null |
Het |
Anxa7 |
G |
A |
14: 20,512,775 (GRCm39) |
R253C |
probably damaging |
Het |
Arfgef1 |
T |
A |
1: 10,243,164 (GRCm39) |
T1059S |
probably damaging |
Het |
Arpp21 |
T |
C |
9: 112,008,197 (GRCm39) |
E101G |
probably damaging |
Het |
Bcr |
A |
T |
10: 74,897,338 (GRCm39) |
I161F |
possibly damaging |
Het |
Ccdc141 |
T |
C |
2: 76,845,140 (GRCm39) |
E1309G |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Cep41 |
C |
T |
6: 30,657,356 (GRCm39) |
S233N |
probably damaging |
Het |
Col5a1 |
T |
G |
2: 27,812,076 (GRCm39) |
S53A |
unknown |
Het |
Cplane1 |
C |
T |
15: 8,276,422 (GRCm39) |
Q2689* |
probably null |
Het |
Efnb2 |
A |
G |
8: 8,672,329 (GRCm39) |
|
probably null |
Het |
Epb41l5 |
T |
C |
1: 119,477,606 (GRCm39) |
|
probably benign |
Het |
Eri2 |
A |
G |
7: 119,390,397 (GRCm39) |
F77S |
probably damaging |
Het |
Ern1 |
C |
T |
11: 106,312,806 (GRCm39) |
|
probably benign |
Het |
Eya3 |
T |
C |
4: 132,434,440 (GRCm39) |
|
probably benign |
Het |
Icos |
T |
C |
1: 61,033,802 (GRCm39) |
L144P |
probably damaging |
Het |
Ipo8 |
A |
G |
6: 148,690,591 (GRCm39) |
V717A |
probably benign |
Het |
Lrp12 |
T |
C |
15: 39,742,019 (GRCm39) |
E232G |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,888,228 (GRCm39) |
I2344T |
probably damaging |
Het |
Mettl5 |
A |
T |
2: 69,701,633 (GRCm39) |
F207I |
possibly damaging |
Het |
Mtor |
G |
T |
4: 148,575,871 (GRCm39) |
E1342* |
probably null |
Het |
Nrap |
A |
G |
19: 56,315,725 (GRCm39) |
Y1360H |
possibly damaging |
Het |
Nsun7 |
T |
C |
5: 66,418,423 (GRCm39) |
V51A |
probably damaging |
Het |
Or5an11 |
C |
A |
19: 12,246,258 (GRCm39) |
F221L |
probably benign |
Het |
Or5p5 |
T |
C |
7: 107,414,469 (GRCm39) |
L228P |
probably damaging |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Or8k27 |
T |
C |
2: 86,275,664 (GRCm39) |
I221V |
probably benign |
Het |
Or9m1b |
T |
A |
2: 87,836,915 (GRCm39) |
Y60F |
probably damaging |
Het |
Otud6b |
A |
C |
4: 14,818,473 (GRCm39) |
L143V |
probably damaging |
Het |
Pabir2 |
T |
C |
X: 52,335,023 (GRCm39) |
*256W |
probably null |
Het |
Pp2d1 |
T |
C |
17: 53,822,835 (GRCm39) |
N77S |
probably benign |
Het |
Ppp4r3c2 |
A |
T |
X: 88,797,283 (GRCm39) |
M372L |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Raly |
G |
T |
2: 154,699,273 (GRCm39) |
G26* |
probably null |
Het |
Rarb |
T |
C |
14: 16,435,177 (GRCm38) |
M290V |
possibly damaging |
Het |
Rusc2 |
A |
G |
4: 43,421,617 (GRCm39) |
E679G |
possibly damaging |
Het |
Scap |
T |
C |
9: 110,213,841 (GRCm39) |
V1268A |
probably damaging |
Het |
Setd1b |
C |
T |
5: 123,298,748 (GRCm39) |
|
probably benign |
Het |
Shisa3 |
C |
G |
5: 67,768,777 (GRCm39) |
P226A |
probably benign |
Het |
Smox |
C |
T |
2: 131,364,051 (GRCm39) |
S481F |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,531,453 (GRCm39) |
V2570A |
probably benign |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Sult4a1 |
C |
T |
15: 83,970,847 (GRCm39) |
R186Q |
probably benign |
Het |
Taf2 |
G |
T |
15: 54,901,806 (GRCm39) |
A796E |
possibly damaging |
Het |
Taf4b |
T |
C |
18: 14,954,484 (GRCm39) |
|
probably benign |
Het |
Thbs4 |
G |
T |
13: 92,898,041 (GRCm39) |
Q593K |
probably benign |
Het |
Tigd3 |
T |
C |
19: 5,941,753 (GRCm39) |
D459G |
probably benign |
Het |
Tmem168 |
A |
T |
6: 13,591,400 (GRCm39) |
L472Q |
probably damaging |
Het |
Tmem169 |
G |
T |
1: 72,339,875 (GRCm39) |
V102F |
probably damaging |
Het |
Tmem241 |
T |
C |
18: 12,126,631 (GRCm39) |
T274A |
probably benign |
Het |
Trip10 |
A |
G |
17: 57,557,800 (GRCm39) |
Y28C |
probably damaging |
Het |
Ubp1 |
T |
C |
9: 113,799,239 (GRCm39) |
V398A |
probably benign |
Het |
Ubr3 |
A |
G |
2: 69,775,415 (GRCm39) |
Y567C |
probably damaging |
Het |
Uckl1 |
A |
T |
2: 181,211,362 (GRCm39) |
M489K |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,169,080 (GRCm39) |
P1074S |
probably damaging |
Het |
Vmn1r62 |
T |
C |
7: 5,678,904 (GRCm39) |
V195A |
probably damaging |
Het |
Vmn2r63 |
T |
A |
7: 42,577,339 (GRCm39) |
I400L |
probably benign |
Het |
Vmn2r67 |
T |
A |
7: 84,800,824 (GRCm39) |
I371F |
probably benign |
Het |
Wdr64 |
A |
G |
1: 175,633,568 (GRCm39) |
T940A |
probably benign |
Het |
Zfp105 |
A |
T |
9: 122,759,742 (GRCm39) |
Y471F |
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 |
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 |
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'- GTCAGGTTTGCACCCTGTCTGT -3'
(R):5'- GCGGCAAAGAATTTAAGCATCTCTCCT -3'
Sequencing Primer
(F):5'- gcttttctccattgtgaatcctc -3'
(R):5'- cagtcagcgagcacacc -3'
|
Posted On |
2014-03-14 |