Incidental Mutation 'R5408:Zfp687'
ID |
426367 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp687
|
Ensembl Gene |
ENSMUSG00000019338 |
Gene Name |
zinc finger protein 687 |
Synonyms |
4931408L03Rik |
MMRRC Submission |
042977-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.654)
|
Stock # |
R5408 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
94913901-94922759 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 94916586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019482]
[ENSMUST00000072287]
[ENSMUST00000107251]
[ENSMUST00000125476]
[ENSMUST00000128438]
[ENSMUST00000133297]
[ENSMUST00000137799]
[ENSMUST00000132195]
[ENSMUST00000167008]
[ENSMUST00000149747]
|
AlphaFold |
Q9D2D7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019482
|
SMART Domains |
Protein: ENSMUSP00000019482 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 |
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: ENSMUST00000146169
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143287
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133166
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133494
|
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 |
|
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: 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: ENSMUST00000149747
|
SMART Domains |
Protein: ENSMUSP00000116053 Gene: ENSMUSG00000019338
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
99% (74/75) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430110L20Rik |
A |
G |
1: 181,054,979 (GRCm39) |
|
noncoding transcript |
Het |
Actn2 |
T |
C |
13: 12,285,681 (GRCm39) |
I837V |
probably benign |
Het |
Adora1 |
T |
A |
1: 134,130,901 (GRCm39) |
T257S |
probably benign |
Het |
Akap9 |
T |
A |
5: 4,108,458 (GRCm39) |
M2954K |
possibly damaging |
Het |
Akr1c13 |
G |
T |
13: 4,244,715 (GRCm39) |
A98S |
probably benign |
Het |
Aldh2 |
C |
T |
5: 121,708,620 (GRCm39) |
|
probably benign |
Het |
Ank1 |
A |
G |
8: 23,572,209 (GRCm39) |
N48D |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,889,701 (GRCm39) |
T527A |
probably damaging |
Het |
Atp13a1 |
T |
C |
8: 70,249,490 (GRCm39) |
V251A |
probably benign |
Het |
Baz1a |
A |
T |
12: 54,969,835 (GRCm39) |
D608E |
probably damaging |
Het |
Bend5 |
A |
T |
4: 111,311,280 (GRCm39) |
|
probably null |
Het |
Blm |
T |
G |
7: 80,152,370 (GRCm39) |
T526P |
probably benign |
Het |
Cacna1a |
T |
C |
8: 85,276,336 (GRCm39) |
V559A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,325,752 (GRCm39) |
D1042G |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,705,759 (GRCm38) |
H212R |
possibly damaging |
Het |
Cdh3 |
T |
C |
8: 107,263,269 (GRCm39) |
I106T |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Cfap68 |
T |
C |
9: 50,676,057 (GRCm39) |
N87S |
probably damaging |
Het |
Col16a1 |
A |
T |
4: 129,986,898 (GRCm39) |
|
probably benign |
Het |
Dctn6 |
C |
T |
8: 34,562,056 (GRCm39) |
V89I |
possibly damaging |
Het |
Dgkz |
C |
A |
2: 91,766,168 (GRCm39) |
G798W |
possibly damaging |
Het |
Epb41l2 |
A |
T |
10: 25,343,992 (GRCm39) |
|
probably null |
Het |
Fam171a2 |
T |
C |
11: 102,328,344 (GRCm39) |
K805R |
possibly damaging |
Het |
Fam89b |
G |
T |
19: 5,779,421 (GRCm39) |
Y45* |
probably null |
Het |
Fchsd2 |
A |
G |
7: 100,920,781 (GRCm39) |
N462S |
possibly damaging |
Het |
Fyco1 |
T |
G |
9: 123,658,568 (GRCm39) |
H536P |
probably damaging |
Het |
Galnt12 |
A |
T |
4: 47,104,169 (GRCm39) |
E142D |
probably damaging |
Het |
Gspt1 |
C |
T |
16: 11,071,719 (GRCm39) |
G48D |
probably benign |
Het |
H6pd |
A |
G |
4: 150,067,322 (GRCm39) |
S355P |
probably damaging |
Het |
Hectd2 |
T |
C |
19: 36,532,296 (GRCm39) |
V38A |
possibly damaging |
Het |
Jup |
C |
T |
11: 100,267,607 (GRCm39) |
R572Q |
probably damaging |
Het |
Kcng3 |
T |
C |
17: 83,938,434 (GRCm39) |
D205G |
probably benign |
Het |
Kif13b |
A |
T |
14: 65,017,138 (GRCm39) |
|
probably null |
Het |
Mapk3 |
A |
G |
7: 126,363,007 (GRCm39) |
D253G |
probably damaging |
Het |
Methig1 |
A |
T |
15: 100,281,635 (GRCm39) |
Y253F |
possibly damaging |
Het |
Mmp3 |
T |
C |
9: 7,449,904 (GRCm39) |
S263P |
probably damaging |
Het |
Mpo |
T |
A |
11: 87,691,851 (GRCm39) |
|
probably null |
Het |
Nbeal2 |
C |
A |
9: 110,466,588 (GRCm39) |
G772W |
possibly damaging |
Het |
Nr1d1 |
T |
A |
11: 98,661,087 (GRCm39) |
H393L |
probably benign |
Het |
Obscn |
A |
G |
11: 58,942,437 (GRCm39) |
V4915A |
probably damaging |
Het |
Olfml2b |
T |
A |
1: 170,472,545 (GRCm39) |
W19R |
probably damaging |
Het |
Or13p4 |
T |
C |
4: 118,547,641 (GRCm39) |
T3A |
probably benign |
Het |
Or56b1b |
C |
T |
7: 108,164,376 (GRCm39) |
A209T |
probably damaging |
Het |
Padi6 |
G |
A |
4: 140,454,996 (GRCm39) |
T647I |
probably damaging |
Het |
Pcyox1 |
A |
G |
6: 86,369,280 (GRCm39) |
L113S |
probably damaging |
Het |
Pde4dip |
T |
A |
3: 97,704,052 (GRCm39) |
T192S |
probably benign |
Het |
Pip4k2a |
T |
C |
2: 18,911,119 (GRCm39) |
H87R |
probably benign |
Het |
Pkd1l3 |
C |
A |
8: 110,393,684 (GRCm39) |
T2004N |
probably damaging |
Het |
Prex1 |
CGTTGTTGTTGT |
CGTTGTTGTTGTTGT |
2: 166,417,573 (GRCm39) |
|
probably benign |
Het |
Ptprz1 |
C |
T |
6: 23,002,599 (GRCm39) |
T1563I |
probably damaging |
Het |
Reg3b |
T |
C |
6: 78,350,215 (GRCm39) |
V165A |
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,115,320 (GRCm39) |
D893G |
probably benign |
Het |
Sap18 |
A |
T |
14: 58,039,431 (GRCm39) |
M78L |
probably benign |
Het |
Scaper |
A |
T |
9: 55,493,508 (GRCm39) |
F1226I |
probably damaging |
Het |
Scyl3 |
A |
T |
1: 163,782,245 (GRCm39) |
|
probably null |
Het |
Shoc2 |
A |
G |
19: 53,976,556 (GRCm39) |
M149V |
probably benign |
Het |
Slc7a2 |
G |
A |
8: 41,368,042 (GRCm39) |
R602K |
probably damaging |
Het |
Sox30 |
A |
G |
11: 45,882,694 (GRCm39) |
I575V |
possibly damaging |
Het |
Trim14 |
A |
T |
4: 46,507,134 (GRCm39) |
C361S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,731,272 (GRCm39) |
|
probably benign |
Het |
Uncx |
A |
T |
5: 139,530,245 (GRCm39) |
K108* |
probably null |
Het |
Usp54 |
A |
T |
14: 20,600,501 (GRCm39) |
L1412Q |
probably damaging |
Het |
Uty |
A |
G |
Y: 1,245,614 (GRCm39) |
V6A |
possibly damaging |
Het |
Vmn1r30 |
C |
T |
6: 58,412,029 (GRCm39) |
V268I |
probably benign |
Het |
Wdsub1 |
T |
C |
2: 59,691,887 (GRCm39) |
|
probably benign |
Het |
Wipf3 |
A |
G |
6: 54,458,896 (GRCm39) |
I84V |
probably benign |
Het |
Xcr1 |
T |
A |
9: 123,685,631 (GRCm39) |
I44F |
probably benign |
Het |
Zfp729b |
A |
T |
13: 67,739,563 (GRCm39) |
S901T |
probably benign |
Het |
Zhx1 |
A |
T |
15: 57,915,819 (GRCm39) |
M809K |
probably damaging |
Het |
Zswim9 |
T |
C |
7: 12,994,753 (GRCm39) |
K468E |
possibly 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 |
R1482:Zfp687
|
UTSW |
3 |
94,914,844 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AGTAGCCATTCCCTAGCCTTTG -3'
(R):5'- CGAAGTTTTCCACAAGTGCCC -3'
Sequencing Primer
(F):5'- GTACCTTGAGATGCTCCAGC -3'
(R):5'- TCCACAAGTGCCCCATCTG -3'
|
Posted On |
2016-09-01 |