Incidental Mutation 'R5883:Zfp687'
ID |
454507 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp687
|
Ensembl Gene |
ENSMUSG00000019338 |
Gene Name |
zinc finger protein 687 |
Synonyms |
4931408L03Rik |
MMRRC Submission |
044086-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.654)
|
Stock # |
R5883 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
94913901-94922759 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94919355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 139
(N139S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116053
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019482]
[ENSMUST00000128438]
[ENSMUST00000132195]
[ENSMUST00000137799]
[ENSMUST00000149747]
|
AlphaFold |
Q9D2D7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019482
AA Change: N139S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000019482 Gene: ENSMUSG00000019338 AA Change: N139S
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 |
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
AA Change: N139S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000117308 Gene: ENSMUSG00000019338 AA Change: N139S
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: ENSMUST00000137799
AA Change: N139S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000123335 Gene: ENSMUSG00000019338 AA Change: N139S
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: ENSMUST00000146169
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149747
AA Change: N139S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000116053 Gene: ENSMUSG00000019338 AA Change: N139S
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151207
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 95.9%
- 20x: 83.7%
|
Validation Efficiency |
100% (70/70) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
G |
A |
8: 120,872,380 (GRCm39) |
V103I |
possibly damaging |
Het |
Aass |
G |
A |
6: 23,072,993 (GRCm39) |
T920I |
probably benign |
Het |
Akirin2 |
A |
G |
4: 34,565,256 (GRCm39) |
I168V |
possibly damaging |
Het |
Ambn |
T |
A |
5: 88,615,688 (GRCm39) |
Y372* |
probably null |
Het |
Ano3 |
T |
A |
2: 110,711,209 (GRCm39) |
E85V |
probably null |
Het |
Bmf |
C |
T |
2: 118,377,447 (GRCm39) |
|
silent |
Het |
Bmper |
T |
A |
9: 23,317,970 (GRCm39) |
S530T |
probably benign |
Het |
Bop1 |
T |
C |
15: 76,339,049 (GRCm39) |
D383G |
probably damaging |
Het |
Bub1b |
T |
A |
2: 118,440,363 (GRCm39) |
Y156N |
probably damaging |
Het |
Cacna1h |
A |
G |
17: 25,595,896 (GRCm39) |
V1987A |
probably benign |
Het |
Cd84 |
T |
C |
1: 171,700,405 (GRCm39) |
V174A |
possibly damaging |
Het |
Cep290 |
T |
A |
10: 100,359,261 (GRCm39) |
L997Q |
probably benign |
Het |
Chil4 |
C |
T |
3: 106,117,886 (GRCm39) |
R128H |
possibly damaging |
Het |
Cpne3 |
A |
T |
4: 19,552,314 (GRCm39) |
V106D |
possibly damaging |
Het |
D6Wsu163e |
A |
G |
6: 126,943,879 (GRCm39) |
E425G |
probably damaging |
Het |
Dlgap1 |
A |
T |
17: 70,824,008 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
C |
A |
7: 105,369,711 (GRCm39) |
H4379N |
probably damaging |
Het |
Gm10309 |
A |
G |
17: 86,806,185 (GRCm39) |
|
probably benign |
Het |
Gm6264 |
G |
A |
1: 85,148,903 (GRCm39) |
|
probably benign |
Het |
Has2 |
T |
A |
15: 56,531,459 (GRCm39) |
I419F |
possibly damaging |
Het |
Hscb |
A |
G |
5: 110,987,444 (GRCm39) |
C51R |
probably benign |
Het |
Ighv1-61 |
T |
C |
12: 115,323,183 (GRCm39) |
S4G |
probably benign |
Het |
Islr2 |
G |
T |
9: 58,105,998 (GRCm39) |
Q465K |
probably benign |
Het |
Jakmip2 |
T |
C |
18: 43,715,059 (GRCm39) |
I156V |
possibly damaging |
Het |
Klk1b24 |
A |
G |
7: 43,839,787 (GRCm39) |
I49V |
probably benign |
Het |
Krt90 |
C |
T |
15: 101,461,654 (GRCm39) |
|
probably benign |
Het |
Larp1 |
C |
T |
11: 57,933,125 (GRCm39) |
S243F |
probably damaging |
Het |
Lrp4 |
T |
C |
2: 91,318,778 (GRCm39) |
Y872H |
probably benign |
Het |
Maip1 |
T |
C |
1: 57,446,260 (GRCm39) |
M110T |
probably damaging |
Het |
Marchf7 |
G |
A |
2: 60,064,786 (GRCm39) |
R354Q |
probably damaging |
Het |
Med12l |
G |
T |
3: 58,998,889 (GRCm39) |
E605D |
probably damaging |
Het |
Nt5c1a |
T |
A |
4: 123,110,049 (GRCm39) |
|
probably null |
Het |
Or2j6 |
T |
A |
7: 139,980,101 (GRCm39) |
Y286F |
probably damaging |
Het |
Or5ac25 |
A |
T |
16: 59,182,078 (GRCm39) |
C168S |
probably damaging |
Het |
Or5p66 |
C |
T |
7: 107,885,451 (GRCm39) |
S294N |
probably damaging |
Het |
Pdzd9 |
T |
A |
7: 120,267,776 (GRCm39) |
E13V |
possibly damaging |
Het |
Ppip5k2 |
C |
T |
1: 97,635,535 (GRCm39) |
A1100T |
possibly damaging |
Het |
Prkdc |
C |
A |
16: 15,533,778 (GRCm39) |
Q1539K |
probably benign |
Het |
Rad54l |
C |
G |
4: 115,956,243 (GRCm39) |
|
probably benign |
Het |
Ric1 |
T |
A |
19: 29,573,389 (GRCm39) |
I943N |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,995,651 (GRCm39) |
|
probably null |
Het |
Rpl12 |
T |
C |
2: 32,852,536 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,860,637 (GRCm39) |
|
probably benign |
Het |
Scarb1 |
C |
A |
5: 125,417,971 (GRCm39) |
|
probably benign |
Het |
Sox10 |
T |
C |
15: 79,040,463 (GRCm39) |
E359G |
probably damaging |
Het |
Taf5 |
A |
G |
19: 47,056,228 (GRCm39) |
T9A |
unknown |
Het |
Tmem128 |
C |
T |
5: 38,423,885 (GRCm39) |
A33V |
possibly damaging |
Het |
Tox |
A |
C |
4: 6,697,444 (GRCm39) |
V453G |
probably benign |
Het |
Ubxn4 |
T |
A |
1: 128,183,867 (GRCm39) |
C76S |
probably damaging |
Het |
Vmn2r100 |
A |
T |
17: 19,743,786 (GRCm39) |
Y483F |
probably benign |
Het |
Xkr5 |
A |
G |
8: 18,990,806 (GRCm39) |
S154P |
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 |
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 |
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'- TTCTGGGGCCAGTTCAAAAG -3'
(R):5'- GATCATGGCCTTCCACAACC -3'
Sequencing Primer
(F):5'- TGGGGCCAGTTCAAAAGGAGTG -3'
(R):5'- CCGGATACTTCTACAGTCAGCG -3'
|
Posted On |
2017-02-10 |