Incidental Mutation 'R6463:Zfp687'
| ID |
517670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp687
|
| Ensembl Gene |
ENSMUSG00000019338 |
| Gene Name |
zinc finger protein 687 |
| Synonyms |
4931408L03Rik |
| MMRRC Submission |
045324-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.654)
|
| Stock # |
R6463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94913901-94922759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94918095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 559
(I559T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019482]
[ENSMUST00000072287]
[ENSMUST00000107251]
[ENSMUST00000125476]
[ENSMUST00000128438]
[ENSMUST00000137799]
[ENSMUST00000167008]
[ENSMUST00000133297]
[ENSMUST00000132195]
[ENSMUST00000149747]
|
| AlphaFold |
Q9D2D7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019482
AA Change: I559T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: I559T
| 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 |
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 damaging
Transcript: ENSMUST00000137799
AA Change: I559T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123335
Gene: ENSMUSG00000019338
AA Change: I559T
| 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: ENSMUST00000167008
|
| SMART Domains |
Protein: ENSMUSP00000132150
Gene: ENSMUSG00000038861
| Domain | Start | End | E-Value | Type |
|---|
|
PI3Kc
|
228 |
482 |
6.47e-105 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147022
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000146169
|
| Meta Mutation Damage Score |
0.4429 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
| Validation Efficiency |
100% (51/51) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,450,938 (GRCm39) |
H48L |
probably damaging |
Het |
| Aifm3 |
A |
G |
16: 17,318,653 (GRCm39) |
I185V |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,309,984 (GRCm39) |
D77E |
probably damaging |
Het |
| Cacna1i |
T |
C |
15: 80,239,959 (GRCm39) |
I336T |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,323,333 (GRCm39) |
L1016* |
probably null |
Het |
| Cep63 |
C |
A |
9: 102,473,354 (GRCm39) |
M504I |
probably benign |
Het |
| Chpf2 |
G |
T |
5: 24,794,524 (GRCm39) |
L231F |
probably damaging |
Het |
| Cnot10 |
T |
C |
9: 114,454,970 (GRCm39) |
Y221C |
probably damaging |
Het |
| Col3a1 |
G |
A |
1: 45,381,365 (GRCm39) |
|
probably benign |
Het |
| Csl |
T |
C |
10: 99,594,960 (GRCm39) |
D35G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,539,875 (GRCm39) |
Y2286C |
probably damaging |
Het |
| Dbt |
A |
G |
3: 116,333,409 (GRCm39) |
E293G |
possibly damaging |
Het |
| Ddx31 |
T |
A |
2: 28,737,525 (GRCm39) |
|
probably null |
Het |
| Dnm1 |
T |
C |
2: 32,199,603 (GRCm39) |
|
probably benign |
Het |
| Elfn1 |
A |
G |
5: 139,958,040 (GRCm39) |
Y348C |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,254,569 (GRCm39) |
I657F |
probably damaging |
Het |
| Fbp1 |
A |
G |
13: 63,012,824 (GRCm39) |
F123S |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,229,481 (GRCm39) |
N732S |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,462,780 (GRCm39) |
S448P |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,945,663 (GRCm39) |
R795G |
probably benign |
Het |
| Izumo2 |
A |
G |
7: 44,358,498 (GRCm39) |
K84R |
probably benign |
Het |
| Kbtbd3 |
A |
G |
9: 4,316,921 (GRCm39) |
Y24C |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,773,308 (GRCm39) |
L5489P |
probably damaging |
Het |
| Mettl2 |
G |
A |
11: 105,023,407 (GRCm39) |
|
probably null |
Het |
| Mtr |
T |
C |
13: 12,231,752 (GRCm39) |
T651A |
probably benign |
Het |
| Naglu |
A |
G |
11: 100,968,177 (GRCm39) |
|
probably null |
Het |
| Nkx6-1 |
G |
T |
5: 101,807,342 (GRCm39) |
H347N |
probably damaging |
Het |
| Ntpcr |
A |
G |
8: 126,462,843 (GRCm39) |
E20G |
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,873,046 (GRCm39) |
R670G |
probably null |
Het |
| Or10h1 |
G |
A |
17: 33,418,612 (GRCm39) |
V197I |
probably benign |
Het |
| Or2ag16 |
C |
G |
7: 106,352,008 (GRCm39) |
E196Q |
probably benign |
Het |
| Or4p8 |
T |
C |
2: 88,727,462 (GRCm39) |
I160V |
probably benign |
Het |
| Phldb2 |
A |
C |
16: 45,595,356 (GRCm39) |
V902G |
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,721,650 (GRCm39) |
R209G |
probably benign |
Het |
| Slc13a3 |
A |
C |
2: 165,287,573 (GRCm39) |
L127R |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,434,014 (GRCm39) |
I275F |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,462,559 (GRCm39) |
Y124C |
probably damaging |
Het |
| Trh |
A |
T |
6: 92,219,824 (GRCm39) |
M164K |
possibly damaging |
Het |
| Trhr |
A |
G |
15: 44,060,981 (GRCm39) |
N167S |
probably benign |
Het |
| Ttll7 |
G |
A |
3: 146,637,337 (GRCm39) |
R490Q |
possibly damaging |
Het |
| Uck1 |
T |
C |
2: 32,148,667 (GRCm39) |
N100S |
probably benign |
Het |
| Ucp3 |
A |
T |
7: 100,129,476 (GRCm39) |
T104S |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,435 (GRCm39) |
H468L |
probably benign |
Het |
| Xaf1 |
G |
A |
11: 72,199,464 (GRCm39) |
R67H |
probably benign |
Het |
| Ypel4 |
T |
C |
2: 84,567,087 (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 |
|
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 |
|
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'- CAGCAAGGGTGTGATGTCTG -3'
(R):5'- CCTTCCAAGTCTGCTACTGG -3'
Sequencing Primer
(F):5'- TGATGTCTGGCTGCCCCAC -3'
(R):5'- TCTGGTAGAGGCCTTCAACAAGATC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation