Incidental Mutation 'R7408:Zfp687'
| ID |
574835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp687
|
| Ensembl Gene |
ENSMUSG00000019338 |
| Gene Name |
zinc finger protein 687 |
| Synonyms |
4931408L03Rik |
| MMRRC Submission |
045489-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.654)
|
| Stock # |
R7408 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94913901-94922759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 94914841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1220
(R1220H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019482]
[ENSMUST00000072287]
[ENSMUST00000107251]
[ENSMUST00000125476]
[ENSMUST00000128438]
[ENSMUST00000132195]
[ENSMUST00000133297]
[ENSMUST00000137799]
[ENSMUST00000149747]
[ENSMUST00000167008]
|
| AlphaFold |
Q9D2D7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019482
AA Change: R1220H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019482
Gene: ENSMUSG00000019338
AA Change: R1220H
| 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 |
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 |
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: 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (71/71) |
| 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 |
|---|
| Agfg1 |
T |
C |
1: 82,860,030 (GRCm39) |
F299S |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,157,220 (GRCm39) |
E72D |
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,408,391 (GRCm39) |
Q1654K |
unknown |
Het |
| Atp6v1f |
A |
C |
6: 29,470,194 (GRCm39) |
H96P |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,887,960 (GRCm39) |
V161A |
probably damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,796,610 (GRCm39) |
C320S |
probably damaging |
Het |
| Cgn |
T |
A |
3: 94,670,362 (GRCm39) |
K1031* |
probably null |
Het |
| Cnot10 |
T |
C |
9: 114,460,894 (GRCm39) |
N92S |
probably benign |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cstf2t |
T |
C |
19: 31,060,593 (GRCm39) |
V43A |
possibly damaging |
Het |
| D930020B18Rik |
T |
C |
10: 121,525,739 (GRCm39) |
L547P |
probably damaging |
Het |
| Dennd1a |
G |
A |
2: 37,742,184 (GRCm39) |
|
probably null |
Het |
| Dtnb |
T |
A |
12: 3,694,272 (GRCm39) |
|
probably null |
Het |
| Entpd1 |
A |
G |
19: 40,727,309 (GRCm39) |
N486D |
possibly damaging |
Het |
| Fes |
G |
A |
7: 80,028,410 (GRCm39) |
R736C |
probably damaging |
Het |
| Galr1 |
T |
G |
18: 82,411,990 (GRCm39) |
Y292S |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,405,988 (GRCm39) |
D80V |
probably damaging |
Het |
| Ghr |
A |
G |
15: 3,377,054 (GRCm39) |
C56R |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,718,909 (GRCm39) |
T313A |
probably damaging |
Het |
| Gpaa1 |
A |
T |
15: 76,217,193 (GRCm39) |
D236V |
probably damaging |
Het |
| Gsdmc |
A |
G |
15: 63,676,315 (GRCm39) |
S43P |
probably benign |
Het |
| Gsdmd |
A |
G |
15: 75,738,202 (GRCm39) |
E295G |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,409,534 (GRCm39) |
K96R |
probably benign |
Het |
| Insm1 |
T |
A |
2: 146,064,711 (GRCm39) |
F176I |
probably benign |
Het |
| Itih1 |
T |
C |
14: 30,665,117 (GRCm39) |
E36G |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,032,379 (GRCm39) |
V409A |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,073 (GRCm39) |
I925V |
possibly damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,969,185 (GRCm39) |
S413P |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,118,389 (GRCm39) |
S205P |
probably damaging |
Het |
| Lrch3 |
C |
A |
16: 32,807,113 (GRCm39) |
S462* |
probably null |
Het |
| Lrrtm2 |
T |
C |
18: 35,346,688 (GRCm39) |
I205V |
possibly damaging |
Het |
| Mark3 |
T |
G |
12: 111,600,223 (GRCm39) |
N479K |
probably damaging |
Het |
| Mrpl19 |
C |
T |
6: 81,942,793 (GRCm39) |
G39D |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,582,382 (GRCm39) |
Y497H |
probably benign |
Het |
| Msl2 |
T |
A |
9: 100,979,316 (GRCm39) |
D563E |
probably benign |
Het |
| Mta1 |
G |
A |
12: 113,095,088 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
A |
14: 123,529,272 (GRCm39) |
Q1401L |
probably benign |
Het |
| Ncapg |
T |
C |
5: 45,853,135 (GRCm39) |
L867P |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,652,013 (GRCm39) |
D200G |
unknown |
Het |
| Nos1 |
A |
C |
5: 118,005,583 (GRCm39) |
E101A |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,481,216 (GRCm39) |
S1008P |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,760,398 (GRCm39) |
I358T |
probably benign |
Het |
| Or11h6 |
A |
G |
14: 50,879,852 (GRCm39) |
E32G |
probably benign |
Het |
| Or13p4 |
C |
T |
4: 118,546,859 (GRCm39) |
M263I |
probably damaging |
Het |
| Or2d2b |
A |
G |
7: 106,705,274 (GRCm39) |
S265P |
probably benign |
Het |
| Or4b1 |
T |
A |
2: 89,980,188 (GRCm39) |
H54L |
probably benign |
Het |
| Or6c88 |
A |
G |
10: 129,406,493 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,680,222 (GRCm39) |
D948G |
probably damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,755,218 (GRCm39) |
I1660N |
possibly damaging |
Het |
| Pkp2 |
T |
A |
16: 16,079,537 (GRCm39) |
Y540N |
possibly damaging |
Het |
| Pkp4 |
T |
C |
2: 59,142,110 (GRCm39) |
L471P |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,977,143 (GRCm39) |
M109K |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,318,418 (GRCm39) |
N68S |
probably benign |
Het |
| Pramel7 |
T |
A |
2: 87,321,189 (GRCm39) |
D282V |
possibly damaging |
Het |
| Pxdn |
T |
C |
12: 30,040,944 (GRCm39) |
Y407H |
probably benign |
Het |
| Rab3ip |
T |
C |
10: 116,773,546 (GRCm39) |
D89G |
possibly damaging |
Het |
| Rad17 |
G |
A |
13: 100,766,019 (GRCm39) |
Q370* |
probably null |
Het |
| Robo4 |
T |
C |
9: 37,322,277 (GRCm39) |
C751R |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,844,356 (GRCm39) |
T60A |
probably damaging |
Het |
| Socs4 |
A |
G |
14: 47,527,296 (GRCm39) |
H77R |
probably benign |
Het |
| Srrm3 |
T |
A |
5: 135,881,060 (GRCm39) |
M120K |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,028,453 (GRCm39) |
I344F |
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,672,725 (GRCm39) |
F989Y |
probably damaging |
Het |
| Toporsl |
A |
T |
4: 52,612,108 (GRCm39) |
Q667L |
probably benign |
Het |
| Tspan17 |
T |
C |
13: 54,937,466 (GRCm39) |
F20S |
probably benign |
Het |
| Tubgcp3 |
G |
A |
8: 12,711,359 (GRCm39) |
Q65* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,465,726 (GRCm39) |
I2765F |
probably benign |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,800,264 (GRCm39) |
V1954A |
|
Het |
| Xrn2 |
T |
A |
2: 146,884,017 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GGGGTGCAAGTCACTAGAATCC -3'
(R):5'- CGGTTCATTAGCCACAAGAAG -3'
Sequencing Primer
(F):5'- GTGCAAGTCACTAGAATCCTCAAAAG -3'
(R):5'- TTCATTAGCCACAAGAAGAGACG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation