Incidental Mutation 'IGL02710:Zfp687'
| ID |
304540 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp687
|
| Ensembl Gene |
ENSMUSG00000019338 |
| Gene Name |
zinc finger protein 687 |
| Synonyms |
4931408L03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.654)
|
| Stock # |
IGL02710
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94913901-94922759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94916084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 927
(S927T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019482]
[ENSMUST00000072287]
[ENSMUST00000107251]
[ENSMUST00000125476]
[ENSMUST00000128438]
[ENSMUST00000132195]
[ENSMUST00000137799]
[ENSMUST00000133297]
[ENSMUST00000149747]
[ENSMUST00000167008]
|
| AlphaFold |
Q9D2D7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019482
AA Change: S927T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: S927T
| 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: ENSMUST00000133166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143287
|
| 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: 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: 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 |
|
| Coding Region Coverage |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,373,928 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
G |
A |
10: 76,949,146 (GRCm39) |
A122V |
possibly damaging |
Het |
| Dnai3 |
A |
T |
3: 145,753,903 (GRCm39) |
I719N |
possibly damaging |
Het |
| Dtnb |
T |
A |
12: 3,698,380 (GRCm39) |
H289Q |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,944,744 (GRCm39) |
K1212N |
probably damaging |
Het |
| Gm10392 |
T |
C |
11: 77,409,294 (GRCm39) |
H44R |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,787,562 (GRCm39) |
A1740T |
possibly damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Knl1 |
A |
C |
2: 118,901,411 (GRCm39) |
E1037D |
probably damaging |
Het |
| Lsg1 |
A |
T |
16: 30,390,292 (GRCm39) |
D274E |
probably benign |
Het |
| Msantd3 |
A |
G |
4: 48,552,686 (GRCm39) |
K92E |
probably damaging |
Het |
| Nap1l4 |
G |
A |
7: 143,077,998 (GRCm39) |
T312I |
probably benign |
Het |
| Nlrp3 |
A |
G |
11: 59,456,802 (GRCm39) |
E988G |
probably damaging |
Het |
| Or11g2 |
C |
T |
14: 50,856,255 (GRCm39) |
T192I |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,754,941 (GRCm39) |
T151I |
possibly damaging |
Het |
| Pde1b |
T |
C |
15: 103,430,484 (GRCm39) |
W144R |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,207,730 (GRCm39) |
L1427P |
probably damaging |
Het |
| Rasal1 |
A |
T |
5: 120,804,496 (GRCm39) |
H456L |
possibly damaging |
Het |
| Sec16a |
C |
T |
2: 26,320,142 (GRCm39) |
G1432D |
possibly damaging |
Het |
| Shc1 |
A |
G |
3: 89,331,917 (GRCm39) |
|
probably null |
Het |
| Skint5 |
T |
A |
4: 113,335,156 (GRCm39) |
I1452F |
unknown |
Het |
| Slc35b4 |
C |
A |
6: 34,135,476 (GRCm39) |
V279L |
probably benign |
Het |
| Snx9 |
T |
C |
17: 5,958,873 (GRCm39) |
V283A |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,882,728 (GRCm39) |
F480L |
possibly damaging |
Het |
| Stt3a |
A |
G |
9: 36,670,041 (GRCm39) |
Y132H |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,125,649 (GRCm39) |
I363F |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,398,820 (GRCm39) |
T642I |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,584,897 (GRCm39) |
|
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,132 (GRCm39) |
N845D |
probably benign |
Het |
| Wdr20 |
A |
T |
12: 110,759,544 (GRCm39) |
|
probably benign |
Het |
| Zfp518b |
A |
G |
5: 38,830,061 (GRCm39) |
V648A |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation