Incidental Mutation 'R1482:Zfp687'
ID |
164429 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp687
|
Ensembl Gene |
ENSMUSG00000019338 |
Gene Name |
zinc finger protein 687 |
Synonyms |
4931408L03Rik |
MMRRC Submission |
039535-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.654)
|
Stock # |
R1482 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
94913901-94922759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94914844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 1219
(F1219S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019482
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019482]
[ENSMUST00000072287]
[ENSMUST00000107251]
[ENSMUST00000125476]
[ENSMUST00000128438]
[ENSMUST00000137799]
[ENSMUST00000132195]
[ENSMUST00000149747]
[ENSMUST00000167008]
[ENSMUST00000133297]
|
AlphaFold |
Q9D2D7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019482
AA Change: F1219S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000019482 Gene: ENSMUSG00000019338 AA Change: F1219S
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
low complexity region
|
170 |
186 |
N/A |
INTRINSIC |
low complexity region
|
296 |
306 |
N/A |
INTRINSIC |
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
ZnF_C2H2
|
533 |
553 |
4.74e1 |
SMART |
ZnF_C2H2
|
561 |
585 |
1.43e1 |
SMART |
low complexity region
|
615 |
634 |
N/A |
INTRINSIC |
low complexity region
|
639 |
667 |
N/A |
INTRINSIC |
ZnF_C2H2
|
673 |
693 |
7.37e1 |
SMART |
ZnF_C2H2
|
705 |
727 |
1.99e0 |
SMART |
ZnF_C2H2
|
733 |
757 |
3.38e1 |
SMART |
ZnF_C2H2
|
764 |
787 |
2.67e-1 |
SMART |
ZnF_C2H2
|
792 |
815 |
4.4e-2 |
SMART |
ZnF_C2H2
|
827 |
849 |
7.67e-2 |
SMART |
ZnF_C2H2
|
858 |
881 |
2.36e-2 |
SMART |
low complexity region
|
884 |
898 |
N/A |
INTRINSIC |
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
ZnF_C2H2
|
964 |
987 |
4.05e-1 |
SMART |
ZnF_C2H2
|
994 |
1017 |
1.38e-3 |
SMART |
ZnF_C2H2
|
1024 |
1050 |
4.65e-1 |
SMART |
low complexity region
|
1057 |
1075 |
N/A |
INTRINSIC |
low complexity region
|
1100 |
1114 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1135 |
1158 |
4.98e-1 |
SMART |
ZnF_C2H2
|
1200 |
1222 |
1.82e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072287
|
SMART Domains |
Protein: ENSMUSP00000072134 Gene: ENSMUSG00000038861
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
31 |
N/A |
INTRINSIC |
SCOP:d1e8xa1
|
140 |
231 |
5e-22 |
SMART |
PI3Kc
|
545 |
799 |
6.47e-105 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107251
|
SMART Domains |
Protein: ENSMUSP00000102872 Gene: ENSMUSG00000038861
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
31 |
N/A |
INTRINSIC |
SCOP:d1e8xa1
|
140 |
231 |
5e-22 |
SMART |
PI3Kc
|
560 |
814 |
6.47e-105 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125476
|
SMART Domains |
Protein: ENSMUSP00000121965 Gene: ENSMUSG00000038861
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
SCOP:d1e8xa1
|
152 |
243 |
5e-22 |
SMART |
PI3Kc
|
572 |
826 |
6.47e-105 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126222
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128438
|
SMART Domains |
Protein: ENSMUSP00000119354 Gene: ENSMUSG00000019338
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183540
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143287
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133494
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146169
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137799
|
SMART Domains |
Protein: ENSMUSP00000123335 Gene: ENSMUSG00000019338
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
low complexity region
|
170 |
186 |
N/A |
INTRINSIC |
low complexity region
|
296 |
306 |
N/A |
INTRINSIC |
low complexity region
|
312 |
325 |
N/A |
INTRINSIC |
ZnF_C2H2
|
533 |
553 |
4.74e1 |
SMART |
ZnF_C2H2
|
561 |
585 |
1.43e1 |
SMART |
low complexity region
|
615 |
634 |
N/A |
INTRINSIC |
low complexity region
|
639 |
667 |
N/A |
INTRINSIC |
ZnF_C2H2
|
673 |
693 |
7.37e1 |
SMART |
ZnF_C2H2
|
705 |
727 |
1.99e0 |
SMART |
ZnF_C2H2
|
733 |
757 |
3.38e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132195
|
SMART Domains |
Protein: ENSMUSP00000117308 Gene: ENSMUSG00000019338
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
low complexity region
|
170 |
186 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149747
|
SMART Domains |
Protein: ENSMUSP00000116053 Gene: ENSMUSG00000019338
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167008
|
SMART Domains |
Protein: ENSMUSP00000132150 Gene: ENSMUSG00000038861
Domain | Start | End | E-Value | Type |
PI3Kc
|
228 |
482 |
6.47e-105 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133297
|
SMART Domains |
Protein: ENSMUSP00000123529 Gene: ENSMUSG00000038861
Domain | Start | End | E-Value | Type |
PI3Kc
|
1 |
225 |
7.13e-43 |
SMART |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.8%
- 20x: 83.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
G |
A |
19: 3,767,192 (GRCm39) |
D260N |
probably benign |
Het |
Ankef1 |
A |
T |
2: 136,392,078 (GRCm39) |
K422N |
possibly damaging |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
Aqp6 |
A |
T |
15: 99,502,188 (GRCm39) |
*294C |
probably null |
Het |
Baz2a |
T |
A |
10: 127,944,877 (GRCm39) |
M38K |
possibly damaging |
Het |
Bcl2l14 |
A |
G |
6: 134,404,265 (GRCm39) |
D151G |
probably damaging |
Het |
Cabp5 |
T |
A |
7: 13,132,267 (GRCm39) |
L12* |
probably null |
Het |
Cachd1 |
T |
C |
4: 100,845,795 (GRCm39) |
V993A |
possibly damaging |
Het |
Cd44 |
G |
A |
2: 102,661,728 (GRCm39) |
T306I |
probably damaging |
Het |
Cdc20 |
A |
T |
4: 118,294,253 (GRCm39) |
N22K |
probably benign |
Het |
Cdc6 |
T |
A |
11: 98,807,807 (GRCm39) |
D433E |
possibly damaging |
Het |
Clhc1 |
A |
G |
11: 29,503,725 (GRCm39) |
D47G |
probably damaging |
Het |
Csf2 |
T |
C |
11: 54,139,389 (GRCm39) |
K65E |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,819,473 (GRCm39) |
E2005G |
probably damaging |
Het |
Dclk3 |
G |
T |
9: 111,296,888 (GRCm39) |
R144L |
possibly damaging |
Het |
Dcpp2 |
C |
T |
17: 24,119,516 (GRCm39) |
T110I |
probably damaging |
Het |
Disp1 |
A |
T |
1: 182,868,038 (GRCm39) |
F1461I |
possibly damaging |
Het |
Dnah1 |
C |
T |
14: 31,016,831 (GRCm39) |
G1562D |
probably damaging |
Het |
Ecpas |
T |
C |
4: 58,820,163 (GRCm39) |
K1217E |
possibly damaging |
Het |
Exoc3l2 |
C |
A |
7: 19,229,284 (GRCm39) |
P234Q |
probably damaging |
Het |
F2rl2 |
T |
C |
13: 95,838,047 (GRCm39) |
V364A |
probably benign |
Het |
Fam151a |
T |
C |
4: 106,602,876 (GRCm39) |
L265P |
probably damaging |
Het |
Fam151b |
T |
A |
13: 92,586,674 (GRCm39) |
Q253L |
probably benign |
Het |
Fat1 |
G |
A |
8: 45,406,281 (GRCm39) |
V1011M |
probably benign |
Het |
Fbxo6 |
G |
A |
4: 148,230,441 (GRCm39) |
R274* |
probably null |
Het |
Fgd4 |
G |
T |
16: 16,302,337 (GRCm39) |
Q73K |
probably benign |
Het |
Fth1 |
A |
G |
19: 9,962,217 (GRCm39) |
T154A |
probably benign |
Het |
Hgs |
C |
A |
11: 120,370,866 (GRCm39) |
H572Q |
probably benign |
Het |
Kcnk10 |
G |
A |
12: 98,456,207 (GRCm39) |
T208I |
probably damaging |
Het |
Kdm5b |
G |
A |
1: 134,552,635 (GRCm39) |
V1204M |
probably damaging |
Het |
Keg1 |
A |
C |
19: 12,696,185 (GRCm39) |
H166P |
probably damaging |
Het |
Kifap3 |
A |
T |
1: 163,653,428 (GRCm39) |
N338I |
possibly damaging |
Het |
Llcfc1 |
A |
T |
6: 41,662,218 (GRCm39) |
D74V |
probably damaging |
Het |
Lman2 |
A |
G |
13: 55,499,218 (GRCm39) |
V219A |
possibly damaging |
Het |
Mettl25 |
A |
G |
10: 105,662,451 (GRCm39) |
I173T |
possibly damaging |
Het |
Mov10 |
G |
T |
3: 104,711,862 (GRCm39) |
P170Q |
probably damaging |
Het |
Mtif2 |
G |
T |
11: 29,486,847 (GRCm39) |
A286S |
probably damaging |
Het |
Mtmr10 |
A |
G |
7: 63,963,997 (GRCm39) |
Y244C |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,987,414 (GRCm39) |
C359S |
probably damaging |
Het |
Nbr1 |
C |
T |
11: 101,463,667 (GRCm39) |
T633I |
probably benign |
Het |
Nepn |
A |
T |
10: 52,276,512 (GRCm39) |
T22S |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Oacyl |
T |
A |
18: 65,871,043 (GRCm39) |
L342M |
probably damaging |
Het |
Or2ag17 |
A |
G |
7: 106,389,540 (GRCm39) |
F223L |
probably benign |
Het |
Or52b2 |
T |
A |
7: 104,986,463 (GRCm39) |
R153S |
probably damaging |
Het |
Or6c205 |
T |
A |
10: 129,087,012 (GRCm39) |
I203N |
possibly damaging |
Het |
Or7e176 |
G |
A |
9: 20,172,020 (GRCm39) |
V295I |
possibly damaging |
Het |
Oxnad1 |
T |
C |
14: 31,821,590 (GRCm39) |
|
probably null |
Het |
Pard3b |
A |
T |
1: 62,205,526 (GRCm39) |
D440V |
probably damaging |
Het |
Pou3f2 |
T |
G |
4: 22,486,960 (GRCm39) |
D391A |
possibly damaging |
Het |
Ptprk |
T |
C |
10: 28,139,512 (GRCm39) |
V79A |
probably benign |
Het |
Rwdd2a |
A |
G |
9: 86,456,331 (GRCm39) |
D169G |
probably damaging |
Het |
Scn3b |
A |
C |
9: 40,190,792 (GRCm39) |
D74A |
probably damaging |
Het |
Setbp1 |
C |
T |
18: 79,130,050 (GRCm39) |
D61N |
probably damaging |
Het |
Setx |
T |
A |
2: 29,053,004 (GRCm39) |
D2089E |
probably damaging |
Het |
Vmn2r69 |
C |
G |
7: 85,056,082 (GRCm39) |
W685C |
probably damaging |
Het |
Vps8 |
A |
G |
16: 21,400,348 (GRCm39) |
Q1272R |
probably benign |
Het |
Wnk4 |
T |
C |
11: 101,160,462 (GRCm39) |
F699L |
probably damaging |
Het |
Zfp616 |
T |
A |
11: 73,974,803 (GRCm39) |
N448K |
possibly damaging |
Het |
Zfp618 |
C |
A |
4: 63,033,685 (GRCm39) |
D307E |
possibly damaging |
Het |
Zfpm2 |
T |
A |
15: 40,962,687 (GRCm39) |
D248E |
probably damaging |
Het |
|
Other mutations in Zfp687 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Zfp687
|
APN |
3 |
94,919,727 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00510:Zfp687
|
APN |
3 |
94,915,758 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00824:Zfp687
|
APN |
3 |
94,916,496 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01861:Zfp687
|
APN |
3 |
94,919,171 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02167:Zfp687
|
APN |
3 |
94,917,841 (GRCm39) |
missense |
probably benign |
|
IGL02169:Zfp687
|
APN |
3 |
94,918,743 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02260:Zfp687
|
APN |
3 |
94,918,575 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02539:Zfp687
|
APN |
3 |
94,918,373 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02710:Zfp687
|
APN |
3 |
94,916,084 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02891:Zfp687
|
APN |
3 |
94,919,257 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03186:Zfp687
|
APN |
3 |
94,918,405 (GRCm39) |
missense |
probably benign |
|
R0006:Zfp687
|
UTSW |
3 |
94,918,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R0006:Zfp687
|
UTSW |
3 |
94,918,767 (GRCm39) |
missense |
probably damaging |
0.99 |
R0243:Zfp687
|
UTSW |
3 |
94,918,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R0556:Zfp687
|
UTSW |
3 |
94,917,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R1111:Zfp687
|
UTSW |
3 |
94,916,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R1170:Zfp687
|
UTSW |
3 |
94,915,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R1236:Zfp687
|
UTSW |
3 |
94,919,355 (GRCm39) |
missense |
probably benign |
0.01 |
R1711:Zfp687
|
UTSW |
3 |
94,919,200 (GRCm39) |
missense |
probably benign |
0.00 |
R2255:Zfp687
|
UTSW |
3 |
94,917,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R3763:Zfp687
|
UTSW |
3 |
94,919,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R3848:Zfp687
|
UTSW |
3 |
94,915,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R3850:Zfp687
|
UTSW |
3 |
94,915,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R4424:Zfp687
|
UTSW |
3 |
94,916,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R4630:Zfp687
|
UTSW |
3 |
94,919,799 (GRCm39) |
splice site |
probably null |
|
R4989:Zfp687
|
UTSW |
3 |
94,917,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R5119:Zfp687
|
UTSW |
3 |
94,918,987 (GRCm39) |
missense |
probably benign |
0.28 |
R5134:Zfp687
|
UTSW |
3 |
94,917,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R5249:Zfp687
|
UTSW |
3 |
94,916,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R5408:Zfp687
|
UTSW |
3 |
94,916,586 (GRCm39) |
unclassified |
probably benign |
|
R5454:Zfp687
|
UTSW |
3 |
94,916,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R5732:Zfp687
|
UTSW |
3 |
94,918,528 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5883:Zfp687
|
UTSW |
3 |
94,919,355 (GRCm39) |
missense |
probably benign |
0.01 |
R6342:Zfp687
|
UTSW |
3 |
94,919,188 (GRCm39) |
missense |
probably benign |
0.01 |
R6395:Zfp687
|
UTSW |
3 |
94,915,049 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6463:Zfp687
|
UTSW |
3 |
94,918,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R6575:Zfp687
|
UTSW |
3 |
94,915,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R6972:Zfp687
|
UTSW |
3 |
94,916,688 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6973:Zfp687
|
UTSW |
3 |
94,916,688 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7087:Zfp687
|
UTSW |
3 |
94,917,524 (GRCm39) |
missense |
probably benign |
0.08 |
R7407:Zfp687
|
UTSW |
3 |
94,914,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7408:Zfp687
|
UTSW |
3 |
94,914,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Zfp687
|
UTSW |
3 |
94,914,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7492:Zfp687
|
UTSW |
3 |
94,914,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7514:Zfp687
|
UTSW |
3 |
94,914,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7849:Zfp687
|
UTSW |
3 |
94,917,673 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8438:Zfp687
|
UTSW |
3 |
94,915,433 (GRCm39) |
missense |
probably benign |
0.10 |
R9542:Zfp687
|
UTSW |
3 |
94,916,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R9786:Zfp687
|
UTSW |
3 |
94,919,768 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
Z1176:Zfp687
|
UTSW |
3 |
94,915,012 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAATCCTCAAAAGCCTGTCCCTCAG -3'
(R):5'- ACTCAGCAGTGCCTTGACTGTG -3'
Sequencing Primer
(F):5'- TCCCTCAGGGATAGAGAAAGAAG -3'
(R):5'- CGGTTCATTAGCCACAAGAAG -3'
|
Posted On |
2014-03-28 |