Incidental Mutation 'R4424:Zfp687'
| ID |
327252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp687
|
| Ensembl Gene |
ENSMUSG00000019338 |
| Gene Name |
zinc finger protein 687 |
| Synonyms |
4931408L03Rik |
| MMRRC Submission |
041696-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.654)
|
| Stock # |
R4424 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94913901-94922759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94916439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 861
(P861L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019482]
[ENSMUST00000072287]
[ENSMUST00000107251]
[ENSMUST00000125476]
[ENSMUST00000128438]
[ENSMUST00000132195]
[ENSMUST00000133297]
[ENSMUST00000167008]
[ENSMUST00000149747]
[ENSMUST00000137799]
|
| AlphaFold |
Q9D2D7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019482
AA Change: P861L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: P861L
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000147022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143287
|
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.2700 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
95% (69/73) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,445,491 (GRCm39) |
|
probably benign |
Het |
| Aimp1 |
A |
T |
3: 132,373,253 (GRCm39) |
L229Q |
probably benign |
Het |
| Ankrd16 |
T |
A |
2: 11,789,215 (GRCm39) |
D267E |
possibly damaging |
Het |
| Apol11b |
A |
G |
15: 77,522,133 (GRCm39) |
|
probably null |
Het |
| Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
| Arid3b |
A |
T |
9: 57,741,151 (GRCm39) |
D98E |
probably benign |
Het |
| Art2b |
T |
A |
7: 101,229,129 (GRCm39) |
I257F |
probably benign |
Het |
| Atp5f1a |
T |
A |
18: 77,867,766 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,738,928 (GRCm39) |
T861A |
probably benign |
Het |
| Cep164 |
A |
T |
9: 45,691,002 (GRCm39) |
F1259L |
possibly damaging |
Het |
| Cfap91 |
G |
T |
16: 38,140,727 (GRCm39) |
P409T |
probably damaging |
Het |
| Chrnd |
T |
C |
1: 87,123,512 (GRCm39) |
V350A |
probably benign |
Het |
| Clcn7 |
T |
C |
17: 25,379,150 (GRCm39) |
L744P |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,453 (GRCm39) |
D204V |
possibly damaging |
Het |
| Cstdc3 |
A |
G |
16: 36,132,951 (GRCm39) |
D76G |
probably null |
Het |
| Cyp2c29 |
G |
T |
19: 39,275,620 (GRCm39) |
W20L |
probably damaging |
Het |
| Dhrs13 |
G |
T |
11: 77,927,951 (GRCm39) |
G266* |
probably null |
Het |
| Dll3 |
T |
C |
7: 27,995,716 (GRCm39) |
N362D |
probably damaging |
Het |
| Efcab3 |
T |
G |
11: 104,626,940 (GRCm39) |
|
probably null |
Het |
| Fanca |
A |
G |
8: 124,015,532 (GRCm39) |
V715A |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
| Fpr2 |
C |
T |
17: 18,113,394 (GRCm39) |
P130L |
probably damaging |
Het |
| Glce |
A |
G |
9: 61,967,535 (GRCm39) |
Y539H |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,890,866 (GRCm39) |
V91E |
probably benign |
Het |
| Hoxd13 |
A |
T |
2: 74,500,301 (GRCm39) |
K281* |
probably null |
Het |
| Ighv1-66 |
A |
T |
12: 115,557,157 (GRCm39) |
W3R |
probably damaging |
Het |
| Impg2 |
G |
A |
16: 56,080,388 (GRCm39) |
V622I |
possibly damaging |
Het |
| Jun |
A |
G |
4: 94,939,084 (GRCm39) |
M142T |
probably benign |
Het |
| Krt78 |
T |
C |
15: 101,856,375 (GRCm39) |
T479A |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,652,929 (GRCm39) |
C216* |
probably null |
Het |
| Lin54 |
G |
T |
5: 100,594,419 (GRCm39) |
T582K |
probably damaging |
Het |
| Mapk11 |
A |
G |
15: 89,029,576 (GRCm39) |
|
probably null |
Het |
| Mindy3 |
A |
G |
2: 12,353,010 (GRCm39) |
M397T |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,418 (GRCm39) |
T85A |
possibly damaging |
Het |
| Msh6 |
T |
A |
17: 88,298,217 (GRCm39) |
L1354* |
probably null |
Het |
| Mtmr12 |
T |
C |
15: 12,230,400 (GRCm39) |
V41A |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,083,551 (GRCm39) |
Q1478L |
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,195,320 (GRCm39) |
K897E |
probably benign |
Het |
| Naprt |
G |
T |
15: 75,764,605 (GRCm39) |
|
probably null |
Het |
| Nrl |
G |
A |
14: 55,759,675 (GRCm39) |
S84L |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,744,128 (GRCm39) |
|
probably benign |
Het |
| Or8g2b |
A |
T |
9: 39,751,652 (GRCm39) |
R307S |
possibly damaging |
Het |
| Panx2 |
G |
T |
15: 88,952,423 (GRCm39) |
V305F |
probably benign |
Het |
| Pcdhga1 |
T |
C |
18: 37,795,632 (GRCm39) |
L212P |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,320 (GRCm39) |
T133I |
probably benign |
Het |
| Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
| Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,653,946 (GRCm39) |
R3901H |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,591,603 (GRCm39) |
K2694E |
probably damaging |
Het |
| Psma8 |
A |
G |
18: 14,854,247 (GRCm39) |
I42M |
probably damaging |
Het |
| Ptprd |
A |
T |
4: 76,021,200 (GRCm39) |
M599K |
probably benign |
Het |
| Rnmt |
A |
G |
18: 68,444,742 (GRCm39) |
D237G |
probably null |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Scaf11 |
G |
A |
15: 96,316,309 (GRCm39) |
T1085I |
possibly damaging |
Het |
| Sec14l3 |
G |
A |
11: 4,016,210 (GRCm39) |
R43Q |
probably damaging |
Het |
| Shc4 |
G |
T |
2: 125,494,442 (GRCm39) |
T131K |
probably benign |
Het |
| Snx27 |
A |
G |
3: 94,469,330 (GRCm39) |
F4L |
probably benign |
Het |
| Sorcs1 |
T |
C |
19: 50,367,379 (GRCm39) |
T228A |
probably damaging |
Het |
| Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
| Sptan1 |
C |
T |
2: 29,919,721 (GRCm39) |
|
probably benign |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Tex47 |
G |
T |
5: 7,355,364 (GRCm39) |
A182S |
probably benign |
Het |
| Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
| Upf3a |
C |
A |
8: 13,846,573 (GRCm39) |
P318T |
probably benign |
Het |
| Zbtb40 |
A |
T |
4: 136,726,005 (GRCm39) |
M518K |
probably damaging |
Het |
| Zcchc14 |
G |
A |
8: 122,378,680 (GRCm39) |
|
probably benign |
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 |
|
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'- GCTTTGCCAAAGTCCTCAC -3'
(R):5'- CATGGCCTTCAAGTCTGCAC -3'
Sequencing Primer
(F):5'- TGCCAAAGTCCTCACTTCAC -3'
(R):5'- TTCAAGTCTGCACCCAGC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation