Incidental Mutation 'IGL02260:Zfp687'
| ID |
286728 |
| 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 # |
IGL02260
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
94913901-94922759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94918575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 399
(T399I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019482]
[ENSMUST00000072287]
[ENSMUST00000125476]
[ENSMUST00000128438]
[ENSMUST00000132195]
[ENSMUST00000137799]
[ENSMUST00000149747]
|
| AlphaFold |
Q9D2D7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019482
AA Change: T399I
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: T399I
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000128160
|
| 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 |
possibly damaging
Transcript: ENSMUST00000137799
AA Change: T399I
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123335
Gene: ENSMUSG00000019338
AA Change: T399I
| 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 |
noncoding transcript
Transcript: ENSMUST00000147022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151207
|
| 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
C |
T |
17: 57,754,891 (GRCm39) |
A663V |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,602,699 (GRCm39) |
|
probably benign |
Het |
| B4galt6 |
T |
C |
18: 20,833,804 (GRCm39) |
I194V |
probably benign |
Het |
| Caprin1 |
T |
C |
2: 103,609,714 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,526,672 (GRCm39) |
F284S |
possibly damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,832,717 (GRCm39) |
|
probably benign |
Het |
| Cox18 |
C |
T |
5: 90,365,384 (GRCm39) |
V272I |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,299,898 (GRCm39) |
M362K |
probably benign |
Het |
| Ddi1 |
A |
T |
9: 6,265,760 (GRCm39) |
M203K |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,933,093 (GRCm39) |
G500R |
probably damaging |
Het |
| Ebf3 |
G |
A |
7: 136,807,919 (GRCm39) |
P375S |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,084,537 (GRCm39) |
L842M |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,909 (GRCm39) |
|
noncoding transcript |
Het |
| Mapk10 |
A |
T |
5: 103,186,534 (GRCm39) |
D29E |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,745,628 (GRCm39) |
R61H |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,303,697 (GRCm39) |
S724P |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,622,758 (GRCm39) |
I1946T |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,260,995 (GRCm39) |
L1873P |
probably damaging |
Het |
| Myom1 |
C |
T |
17: 71,415,310 (GRCm39) |
Q1226* |
probably null |
Het |
| Neb |
A |
G |
2: 52,095,668 (GRCm39) |
L4858P |
probably damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,114 (GRCm39) |
I128F |
probably damaging |
Het |
| Or5m9b |
C |
A |
2: 85,905,816 (GRCm39) |
T244K |
possibly damaging |
Het |
| Or5p76 |
T |
C |
7: 108,122,492 (GRCm39) |
I222V |
probably benign |
Het |
| Pcdhb14 |
C |
T |
18: 37,583,086 (GRCm39) |
H731Y |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,412,744 (GRCm39) |
N1087S |
probably benign |
Het |
| Prdm2 |
C |
T |
4: 142,861,157 (GRCm39) |
G711D |
probably damaging |
Het |
| Proser1 |
G |
A |
3: 53,386,365 (GRCm39) |
G749D |
probably damaging |
Het |
| Ptch1 |
A |
T |
13: 63,713,166 (GRCm39) |
|
probably benign |
Het |
| Pus10 |
A |
T |
11: 23,657,548 (GRCm39) |
K233* |
probably null |
Het |
| Rasa2 |
A |
G |
9: 96,426,372 (GRCm39) |
Y825H |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,494,104 (GRCm39) |
F969S |
probably damaging |
Het |
| Tbp |
T |
A |
17: 15,724,878 (GRCm39) |
S133T |
probably damaging |
Het |
| Tnks |
C |
T |
8: 35,310,137 (GRCm39) |
G1062D |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,372 (GRCm39) |
S625T |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,850,562 (GRCm39) |
S239P |
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,564 (GRCm39) |
D115G |
probably benign |
Het |
| Uckl1 |
A |
G |
2: 181,211,381 (GRCm39) |
S483P |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,887,509 (GRCm39) |
D91G |
probably benign |
Het |
| Wdr62 |
C |
A |
7: 29,970,207 (GRCm39) |
C200F |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,483,969 (GRCm39) |
C586Y |
possibly damaging |
Het |
| Zp1 |
G |
T |
19: 10,894,078 (GRCm39) |
|
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,157,720 (GRCm39) |
D263E |
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 |
|
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 |
|
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