Incidental Mutation 'R4630:Zfp687'
ID |
349098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp687
|
Ensembl Gene |
ENSMUSG00000019338 |
Gene Name |
zinc finger protein 687 |
Synonyms |
4931408L03Rik |
MMRRC Submission |
041895-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.654)
|
Stock # |
R4630 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
94913901-94922759 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 94919799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116053
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019482]
[ENSMUST00000128438]
[ENSMUST00000128438]
[ENSMUST00000132195]
[ENSMUST00000132195]
[ENSMUST00000137799]
[ENSMUST00000149747]
[ENSMUST00000149747]
|
AlphaFold |
Q9D2D7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000019482
|
SMART Domains |
Protein: ENSMUSP00000019482 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 |
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 null
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 null
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 null
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 null
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: 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 null
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 null
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: ENSMUST00000147022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146169
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151207
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
97% (74/76) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
A |
T |
13: 119,624,622 (GRCm39) |
|
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
BC024139 |
T |
G |
15: 76,009,294 (GRCm39) |
Q240P |
probably benign |
Het |
Bckdha |
A |
T |
7: 25,330,884 (GRCm39) |
I44N |
probably damaging |
Het |
Brpf1 |
T |
C |
6: 113,286,867 (GRCm39) |
Y32H |
probably damaging |
Het |
Catip |
A |
G |
1: 74,408,072 (GRCm39) |
|
probably benign |
Het |
Ccdc138 |
T |
C |
10: 58,409,477 (GRCm39) |
L602P |
probably damaging |
Het |
Cilp |
A |
T |
9: 65,187,162 (GRCm39) |
T1086S |
probably benign |
Het |
Comp |
A |
T |
8: 70,827,032 (GRCm39) |
I58F |
possibly damaging |
Het |
Crygs |
T |
C |
16: 22,624,268 (GRCm39) |
E113G |
possibly damaging |
Het |
Dnmt3b |
C |
T |
2: 153,512,235 (GRCm39) |
R319* |
probably null |
Het |
Eif3a |
A |
G |
19: 60,758,366 (GRCm39) |
I804T |
unknown |
Het |
Eif3a |
A |
T |
19: 60,766,424 (GRCm39) |
H301Q |
probably benign |
Het |
Elf3 |
A |
T |
1: 135,184,478 (GRCm39) |
|
probably benign |
Het |
Fads2b |
C |
A |
2: 85,348,990 (GRCm39) |
G41* |
probably null |
Het |
Gm10384 |
A |
G |
15: 36,872,017 (GRCm39) |
|
noncoding transcript |
Het |
Gm11627 |
T |
A |
11: 102,469,657 (GRCm39) |
|
probably benign |
Het |
Gpr183 |
A |
T |
14: 122,192,261 (GRCm39) |
Y87N |
probably damaging |
Het |
Gpr183 |
G |
C |
14: 122,192,262 (GRCm39) |
Y86* |
probably null |
Het |
Gpr26 |
T |
C |
7: 131,568,709 (GRCm39) |
V18A |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,340,996 (GRCm39) |
|
probably null |
Het |
Hint2 |
C |
T |
4: 43,656,396 (GRCm39) |
|
probably benign |
Het |
Jag1 |
A |
T |
2: 136,927,899 (GRCm39) |
D837E |
probably damaging |
Het |
Jmjd1c |
C |
A |
10: 66,993,753 (GRCm39) |
S78* |
probably null |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Lalba |
T |
C |
15: 98,380,549 (GRCm39) |
M2V |
probably benign |
Het |
Lama1 |
T |
A |
17: 68,101,295 (GRCm39) |
D1929E |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,367,432 (GRCm39) |
K878R |
possibly damaging |
Het |
Mboat4 |
T |
C |
8: 34,591,108 (GRCm39) |
S182P |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,411,721 (GRCm39) |
T1556S |
unknown |
Het |
Myo1g |
T |
C |
11: 6,469,047 (GRCm39) |
Y85C |
probably damaging |
Het |
Ncapd2 |
C |
A |
6: 125,156,196 (GRCm39) |
|
probably null |
Het |
Nox3 |
T |
C |
17: 3,744,257 (GRCm39) |
D96G |
possibly damaging |
Het |
Or10a48 |
T |
C |
7: 108,424,802 (GRCm39) |
M135V |
probably damaging |
Het |
Or1e17 |
T |
C |
11: 73,831,822 (GRCm39) |
L250P |
probably damaging |
Het |
Or6c212 |
A |
G |
10: 129,559,350 (GRCm39) |
L21P |
probably damaging |
Het |
Pacs1 |
C |
T |
19: 5,206,384 (GRCm39) |
|
probably null |
Het |
Pgap4 |
C |
G |
4: 49,586,254 (GRCm39) |
V305L |
probably benign |
Het |
Pgm5 |
C |
A |
19: 24,812,110 (GRCm39) |
G141* |
probably null |
Het |
Pik3r4 |
A |
G |
9: 105,532,098 (GRCm39) |
M557V |
probably benign |
Het |
Pld4 |
T |
A |
12: 112,731,498 (GRCm39) |
V217D |
probably damaging |
Het |
Pphln1-ps1 |
T |
C |
16: 13,495,278 (GRCm39) |
S126P |
probably damaging |
Het |
Ppp1r3c |
T |
C |
19: 36,710,915 (GRCm39) |
E285G |
probably benign |
Het |
Pradc1 |
T |
A |
6: 85,424,275 (GRCm39) |
M24L |
possibly damaging |
Het |
Prepl |
T |
C |
17: 85,390,659 (GRCm39) |
T100A |
probably benign |
Het |
Rmi2 |
C |
T |
16: 10,704,073 (GRCm39) |
T138I |
probably benign |
Het |
Rtkn |
A |
T |
6: 83,129,163 (GRCm39) |
K540* |
probably null |
Het |
Sag |
C |
A |
1: 87,762,340 (GRCm39) |
T335K |
probably damaging |
Het |
Setd4 |
A |
G |
16: 93,388,114 (GRCm39) |
L124P |
probably benign |
Het |
Sh3gl2 |
A |
G |
4: 85,297,646 (GRCm39) |
D208G |
probably damaging |
Het |
Sult4a1 |
T |
C |
15: 83,989,779 (GRCm39) |
T8A |
possibly damaging |
Het |
Tert |
A |
G |
13: 73,797,110 (GRCm39) |
D1116G |
probably damaging |
Het |
Tlr4 |
A |
G |
4: 66,757,477 (GRCm39) |
E90G |
probably benign |
Het |
Tmem123 |
T |
C |
9: 7,791,393 (GRCm39) |
L164P |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trak1 |
G |
A |
9: 121,283,491 (GRCm39) |
R419Q |
probably benign |
Het |
Trp53bp1 |
G |
T |
2: 121,038,368 (GRCm39) |
A1490D |
probably damaging |
Het |
Ttc16 |
T |
C |
2: 32,665,389 (GRCm39) |
|
probably benign |
Het |
Tyw5 |
T |
A |
1: 57,427,686 (GRCm39) |
Q306L |
probably damaging |
Het |
Ube2j2 |
T |
A |
4: 156,039,715 (GRCm39) |
I14N |
probably damaging |
Het |
Vmn2r103 |
T |
C |
17: 20,013,958 (GRCm39) |
I250T |
probably benign |
Het |
Zar1 |
A |
G |
5: 72,738,249 (GRCm39) |
V51A |
probably benign |
Het |
Zbtb38 |
T |
G |
9: 96,570,904 (GRCm39) |
N60T |
probably damaging |
Het |
Zfp354a |
T |
C |
11: 50,961,045 (GRCm39) |
S417P |
probably damaging |
Het |
Zfp410 |
A |
T |
12: 84,372,510 (GRCm39) |
D112V |
probably damaging |
Het |
Zfp518a |
C |
T |
19: 40,901,423 (GRCm39) |
Q451* |
probably null |
Het |
Zfp64 |
T |
C |
2: 168,768,463 (GRCm39) |
N383S |
possibly 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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACTCTCAGGGTCATTCTCAGC -3'
(R):5'- AACCTGATTTTAGGGTTTGGCAC -3'
Sequencing Primer
(F):5'- AGAATCTCCTCCTACACTGGG -3'
(R):5'- GGGTTTGGCACACTGAATACTTCAAG -3'
|
Posted On |
2015-10-08 |