Incidental Mutation 'R7318:Zfp287'
| ID |
565666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp287
|
| Ensembl Gene |
ENSMUSG00000005267 |
| Gene Name |
zinc finger protein 287 |
| Synonyms |
SKAT-2, B230333C16Rik |
| MMRRC Submission |
045414-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7318 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62591182-62622731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62605104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 601
(Q601L)
|
| 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: Q590L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005399
Gene: ENSMUSG00000005267
AA Change: Q590L
| 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: Q601L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114531
Gene: ENSMUSG00000005267
AA Change: Q601L
| 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: Q601L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141046
Gene: ENSMUSG00000005267
AA Change: Q601L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
C |
7: 40,643,111 (GRCm39) |
L260S |
probably benign |
Het |
| 9130230L23Rik |
A |
T |
5: 66,145,771 (GRCm39) |
S113R |
unknown |
Het |
| Abcc5 |
G |
A |
16: 20,211,293 (GRCm39) |
P557S |
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,958,466 (GRCm39) |
T245A |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,946,155 (GRCm39) |
F263L |
probably damaging |
Het |
| Ankle2 |
A |
T |
5: 110,385,632 (GRCm39) |
N327I |
probably benign |
Het |
| Appl1 |
T |
C |
14: 26,685,617 (GRCm39) |
E67G |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,506,211 (GRCm39) |
C864S |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,751,802 (GRCm39) |
I418V |
probably benign |
Het |
| Arhgef2 |
A |
T |
3: 88,539,610 (GRCm39) |
N102Y |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,513,089 (GRCm39) |
E431D |
probably damaging |
Het |
| Cbfa2t2 |
T |
C |
2: 154,342,374 (GRCm39) |
I30T |
probably benign |
Het |
| Cd40 |
A |
T |
2: 164,904,255 (GRCm39) |
D34V |
possibly damaging |
Het |
| Chrnb2 |
T |
A |
3: 89,670,674 (GRCm39) |
|
probably null |
Het |
| Chsy1 |
T |
G |
7: 65,759,977 (GRCm39) |
|
probably null |
Het |
| Cpne6 |
A |
G |
14: 55,751,751 (GRCm39) |
T245A |
possibly damaging |
Het |
| Cpsf1 |
T |
A |
15: 76,481,475 (GRCm39) |
K1159* |
probably null |
Het |
| Crisp1 |
T |
A |
17: 40,618,668 (GRCm39) |
E64D |
possibly damaging |
Het |
| D3Ertd751e |
A |
G |
3: 41,756,986 (GRCm39) |
|
probably null |
Het |
| Dennd11 |
A |
G |
6: 40,386,098 (GRCm39) |
V333A |
possibly damaging |
Het |
| Dnah7b |
T |
A |
1: 46,234,532 (GRCm39) |
L1488Q |
probably damaging |
Het |
| Dnm2 |
G |
A |
9: 21,416,863 (GRCm39) |
G799R |
possibly damaging |
Het |
| Elp2 |
G |
A |
18: 24,739,956 (GRCm39) |
V61I |
probably damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,573,135 (GRCm39) |
L388P |
|
Het |
| Fry |
A |
T |
5: 150,360,458 (GRCm39) |
S2035C |
probably damaging |
Het |
| Gas8 |
T |
C |
8: 124,257,707 (GRCm39) |
F385L |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,426,616 (GRCm39) |
V224A |
possibly damaging |
Het |
| Gstp2 |
T |
A |
19: 4,091,065 (GRCm39) |
R85W |
probably benign |
Het |
| Ighv1-20 |
T |
A |
12: 114,687,810 (GRCm39) |
I6F |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,798,374 (GRCm39) |
M854K |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,817,014 (GRCm39) |
E538G |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Lmo3 |
T |
A |
6: 138,398,363 (GRCm39) |
|
probably benign |
Het |
| Lyg1 |
G |
A |
1: 37,988,936 (GRCm39) |
P95S |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,932,028 (GRCm39) |
H3552R |
probably benign |
Het |
| Mtif2 |
C |
T |
11: 29,490,115 (GRCm39) |
S385L |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,575,710 (GRCm39) |
I1737F |
unknown |
Het |
| Mug1 |
T |
C |
6: 121,847,611 (GRCm39) |
|
probably null |
Het |
| Mx1 |
G |
T |
16: 97,253,286 (GRCm39) |
Q350K |
probably benign |
Het |
| Mylk3 |
G |
T |
8: 86,085,726 (GRCm39) |
D269E |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,448,332 (GRCm39) |
K974* |
probably null |
Het |
| Nectin4 |
G |
T |
1: 171,208,031 (GRCm39) |
R141L |
probably benign |
Het |
| Nlgn2 |
T |
C |
11: 69,716,795 (GRCm39) |
H582R |
probably damaging |
Het |
| Or51ab3 |
T |
A |
7: 103,201,298 (GRCm39) |
M102K |
probably damaging |
Het |
| Or51e1 |
T |
A |
7: 102,359,226 (GRCm39) |
Y253* |
probably null |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Psmd11 |
C |
A |
11: 80,347,128 (GRCm39) |
L171I |
probably benign |
Het |
| Rad54l |
A |
G |
4: 115,967,906 (GRCm39) |
V152A |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,318,909 (GRCm39) |
Y2473* |
probably null |
Het |
| Sertad1 |
T |
C |
7: 27,188,910 (GRCm39) |
I77T |
possibly damaging |
Het |
| Sesn3 |
A |
T |
9: 14,219,873 (GRCm39) |
E87D |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,950,477 (GRCm39) |
S260R |
probably benign |
Het |
| Slc6a12 |
G |
A |
6: 121,328,972 (GRCm39) |
G111S |
probably damaging |
Het |
| Slc6a12 |
T |
C |
6: 121,328,978 (GRCm39) |
Y113H |
probably benign |
Het |
| Spag17 |
T |
G |
3: 99,847,299 (GRCm39) |
M76R |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Stard13 |
G |
A |
5: 150,986,038 (GRCm39) |
Q491* |
probably null |
Het |
| Synpo2 |
T |
C |
3: 122,910,968 (GRCm39) |
S226G |
probably benign |
Het |
| Tada2b |
G |
A |
5: 36,641,331 (GRCm39) |
T24I |
probably benign |
Het |
| Tafa1 |
T |
C |
6: 96,092,737 (GRCm39) |
|
probably null |
Het |
| Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
| Tnnt1 |
T |
A |
7: 4,513,547 (GRCm39) |
|
probably null |
Het |
| Usp17lb |
T |
C |
7: 104,490,340 (GRCm39) |
I196V |
probably benign |
Het |
| Utp20 |
T |
A |
10: 88,649,811 (GRCm39) |
K466N |
possibly damaging |
Het |
| Wdr46 |
T |
C |
17: 34,160,859 (GRCm39) |
|
probably null |
Het |
| Zfp410 |
T |
C |
12: 84,372,464 (GRCm39) |
S97P |
probably benign |
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 |
|
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 |
|
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'- TTTGCACCCTGTCTGTAAGC -3'
(R):5'- GCAAAGAATTTAAGCATCTCTCCTC -3'
Sequencing Primer
(F):5'- GTAAGCTTTCCCACAGGTATTACAC -3'
(R):5'- CTGGAGTGCAGTAAAACCTTTAGCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation