Incidental Mutation 'R5843:Zfp865'
ID |
450539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp865
|
Ensembl Gene |
ENSMUSG00000116184 |
Gene Name |
zinc finger protein 865 |
Synonyms |
6430526N21Rik |
MMRRC Submission |
043224-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
R5843 (G1)
|
Quality Score |
196 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
5023375-5036225 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 5033416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 467
(T467K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062428]
[ENSMUST00000076251]
[ENSMUST00000076791]
[ENSMUST00000085427]
[ENSMUST00000207050]
[ENSMUST00000208728]
|
AlphaFold |
Q9D656 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062428
|
SMART Domains |
Protein: ENSMUSP00000051979 Gene: ENSMUSG00000043290
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
24 |
N/A |
INTRINSIC |
ZnF_C2H2
|
64 |
86 |
1.02e1 |
SMART |
ZnF_C2H2
|
100 |
122 |
9.96e-1 |
SMART |
ZnF_C2H2
|
128 |
150 |
6.67e-2 |
SMART |
low complexity region
|
180 |
192 |
N/A |
INTRINSIC |
ZnF_C2H2
|
195 |
217 |
4.11e-2 |
SMART |
ZnF_C2H2
|
223 |
245 |
7.26e-3 |
SMART |
ZnF_C2H2
|
251 |
273 |
3.21e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076251
AA Change: T467K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000075601 Gene: ENSMUSG00000074405 AA Change: T467K
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
low complexity region
|
62 |
82 |
N/A |
INTRINSIC |
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
ZnF_C2H2
|
220 |
242 |
1.28e-3 |
SMART |
ZnF_C2H2
|
248 |
270 |
5.5e-3 |
SMART |
low complexity region
|
274 |
286 |
N/A |
INTRINSIC |
low complexity region
|
294 |
324 |
N/A |
INTRINSIC |
ZnF_C2H2
|
350 |
372 |
8.81e-2 |
SMART |
ZnF_C2H2
|
378 |
400 |
6.08e-5 |
SMART |
ZnF_C2H2
|
407 |
429 |
1.79e-2 |
SMART |
ZnF_C2H2
|
439 |
461 |
1.92e-2 |
SMART |
low complexity region
|
478 |
495 |
N/A |
INTRINSIC |
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
low complexity region
|
523 |
542 |
N/A |
INTRINSIC |
ZnF_C2H2
|
546 |
568 |
4.47e-3 |
SMART |
ZnF_C2H2
|
574 |
596 |
5.42e-2 |
SMART |
ZnF_C2H2
|
602 |
624 |
1.72e-4 |
SMART |
low complexity region
|
628 |
660 |
N/A |
INTRINSIC |
ZnF_C2H2
|
664 |
686 |
5.34e-1 |
SMART |
ZnF_C2H2
|
692 |
714 |
2.82e0 |
SMART |
low complexity region
|
725 |
745 |
N/A |
INTRINSIC |
low complexity region
|
750 |
770 |
N/A |
INTRINSIC |
low complexity region
|
772 |
788 |
N/A |
INTRINSIC |
ZnF_C2H2
|
791 |
813 |
1.64e-1 |
SMART |
ZnF_C2H2
|
819 |
841 |
9.3e-1 |
SMART |
ZnF_C2H2
|
847 |
869 |
2.95e-3 |
SMART |
ZnF_C2H2
|
875 |
897 |
3.83e-2 |
SMART |
ZnF_C2H2
|
903 |
925 |
2.05e-2 |
SMART |
ZnF_C2H2
|
931 |
953 |
1.18e-2 |
SMART |
ZnF_C2H2
|
959 |
981 |
1.36e-2 |
SMART |
ZnF_C2H2
|
988 |
1010 |
5.06e-2 |
SMART |
ZnF_C2H2
|
1016 |
1038 |
4.72e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076791
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085427
AA Change: T467K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000082550 Gene: ENSMUSG00000074405 AA Change: T467K
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
low complexity region
|
62 |
82 |
N/A |
INTRINSIC |
low complexity region
|
120 |
141 |
N/A |
INTRINSIC |
low complexity region
|
171 |
193 |
N/A |
INTRINSIC |
ZnF_C2H2
|
220 |
242 |
1.28e-3 |
SMART |
ZnF_C2H2
|
248 |
270 |
5.5e-3 |
SMART |
low complexity region
|
274 |
286 |
N/A |
INTRINSIC |
low complexity region
|
294 |
324 |
N/A |
INTRINSIC |
ZnF_C2H2
|
350 |
372 |
8.81e-2 |
SMART |
ZnF_C2H2
|
378 |
400 |
6.08e-5 |
SMART |
ZnF_C2H2
|
407 |
429 |
1.79e-2 |
SMART |
ZnF_C2H2
|
439 |
461 |
1.92e-2 |
SMART |
low complexity region
|
478 |
495 |
N/A |
INTRINSIC |
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
low complexity region
|
523 |
542 |
N/A |
INTRINSIC |
ZnF_C2H2
|
546 |
568 |
4.47e-3 |
SMART |
ZnF_C2H2
|
574 |
596 |
5.42e-2 |
SMART |
ZnF_C2H2
|
602 |
624 |
1.72e-4 |
SMART |
low complexity region
|
628 |
660 |
N/A |
INTRINSIC |
ZnF_C2H2
|
664 |
686 |
5.34e-1 |
SMART |
ZnF_C2H2
|
692 |
714 |
2.82e0 |
SMART |
low complexity region
|
725 |
745 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207193
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208728
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207362
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
A |
G |
1: 89,537,272 (GRCm39) |
T93A |
probably damaging |
Het |
Atp6v1h |
T |
A |
1: 5,232,312 (GRCm39) |
|
probably null |
Het |
Ccnk |
T |
C |
12: 108,159,989 (GRCm39) |
V157A |
probably damaging |
Het |
Cdh10 |
T |
C |
15: 18,985,286 (GRCm39) |
F317L |
possibly damaging |
Het |
Chn1 |
A |
G |
2: 73,510,092 (GRCm39) |
I139T |
probably benign |
Het |
Creld2 |
A |
T |
15: 88,710,632 (GRCm39) |
D349V |
probably damaging |
Het |
Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,854,289 (GRCm39) |
D1660G |
probably damaging |
Het |
Hipk3 |
A |
C |
2: 104,270,569 (GRCm39) |
S470R |
possibly damaging |
Het |
Hook2 |
T |
A |
8: 85,717,912 (GRCm39) |
I37K |
probably damaging |
Het |
Hpcal1 |
T |
C |
12: 17,841,200 (GRCm39) |
F193L |
probably benign |
Het |
Hps4 |
T |
C |
5: 112,497,296 (GRCm39) |
|
probably null |
Het |
Iqgap1 |
T |
C |
7: 80,375,828 (GRCm39) |
N1349S |
probably benign |
Het |
Khk |
A |
G |
5: 31,079,275 (GRCm39) |
I6V |
possibly damaging |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lrch3 |
T |
C |
16: 32,818,896 (GRCm39) |
V629A |
probably damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Muc13 |
A |
G |
16: 33,626,421 (GRCm39) |
Y320C |
probably damaging |
Het |
Or2aj4 |
T |
A |
16: 19,385,333 (GRCm39) |
Q100L |
probably damaging |
Het |
Or2y1b |
A |
T |
11: 49,209,076 (GRCm39) |
R234S |
probably benign |
Het |
Or5ac21 |
T |
A |
16: 59,123,724 (GRCm39) |
D69E |
probably damaging |
Het |
Parpbp |
A |
G |
10: 87,969,053 (GRCm39) |
L131P |
probably damaging |
Het |
Prl3a1 |
T |
C |
13: 27,454,093 (GRCm39) |
W24R |
probably damaging |
Het |
Ptprk |
T |
A |
10: 28,369,060 (GRCm39) |
N677K |
probably damaging |
Het |
Rbm39 |
A |
T |
2: 156,004,793 (GRCm39) |
D181E |
possibly damaging |
Het |
Ros1 |
T |
C |
10: 52,042,293 (GRCm39) |
T220A |
possibly damaging |
Het |
Slc46a3 |
T |
C |
5: 147,823,021 (GRCm39) |
I274V |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,661,938 (GRCm39) |
N257I |
probably damaging |
Het |
Timeless |
A |
G |
10: 128,080,113 (GRCm39) |
|
probably null |
Het |
Tmem63a |
T |
C |
1: 180,800,398 (GRCm39) |
|
probably null |
Het |
Traf5 |
T |
C |
1: 191,729,446 (GRCm39) |
D535G |
possibly damaging |
Het |
Trank1 |
C |
T |
9: 111,194,928 (GRCm39) |
S984L |
possibly damaging |
Het |
Trpm6 |
A |
G |
19: 18,833,539 (GRCm39) |
T1573A |
probably benign |
Het |
Ube3b |
T |
A |
5: 114,550,360 (GRCm39) |
I835N |
probably damaging |
Het |
Wnt16 |
T |
A |
6: 22,290,947 (GRCm39) |
I125N |
probably damaging |
Het |
Xirp2 |
G |
T |
2: 67,307,129 (GRCm39) |
|
probably benign |
Het |
Zbtb47 |
T |
C |
9: 121,596,405 (GRCm39) |
F624S |
possibly damaging |
Het |
Zc3h12c |
G |
T |
9: 52,027,982 (GRCm39) |
T460K |
probably benign |
Het |
Zim1 |
A |
G |
7: 6,680,697 (GRCm39) |
V322A |
possibly damaging |
Het |
|
Other mutations in Zfp865 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01731:Zfp865
|
APN |
7 |
5,032,875 (GRCm39) |
missense |
probably benign |
|
IGL02041:Zfp865
|
APN |
7 |
5,034,372 (GRCm39) |
missense |
probably benign |
|
IGL03118:Zfp865
|
APN |
7 |
5,037,644 (GRCm39) |
intron |
probably benign |
|
R0613:Zfp865
|
UTSW |
7 |
5,032,090 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0879:Zfp865
|
UTSW |
7 |
5,034,342 (GRCm39) |
missense |
probably benign |
|
R0938:Zfp865
|
UTSW |
7 |
5,034,403 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1448:Zfp865
|
UTSW |
7 |
5,032,278 (GRCm39) |
nonsense |
probably null |
|
R3955:Zfp865
|
UTSW |
7 |
5,035,013 (GRCm39) |
missense |
probably damaging |
0.96 |
R4841:Zfp865
|
UTSW |
7 |
5,034,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R4842:Zfp865
|
UTSW |
7 |
5,034,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R5044:Zfp865
|
UTSW |
7 |
5,037,668 (GRCm39) |
intron |
probably benign |
|
R5773:Zfp865
|
UTSW |
7 |
5,037,693 (GRCm39) |
intron |
probably benign |
|
R5849:Zfp865
|
UTSW |
7 |
5,034,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R6393:Zfp865
|
UTSW |
7 |
5,033,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R6480:Zfp865
|
UTSW |
7 |
5,032,782 (GRCm39) |
missense |
probably damaging |
0.98 |
R6681:Zfp865
|
UTSW |
7 |
5,032,450 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6880:Zfp865
|
UTSW |
7 |
5,033,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R7252:Zfp865
|
UTSW |
7 |
5,037,416 (GRCm39) |
intron |
probably benign |
|
R7302:Zfp865
|
UTSW |
7 |
5,032,252 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7486:Zfp865
|
UTSW |
7 |
5,034,259 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7611:Zfp865
|
UTSW |
7 |
5,034,130 (GRCm39) |
missense |
probably damaging |
0.99 |
R8058:Zfp865
|
UTSW |
7 |
5,033,445 (GRCm39) |
missense |
probably benign |
|
R8327:Zfp865
|
UTSW |
7 |
5,034,058 (GRCm39) |
missense |
probably benign |
0.08 |
R8728:Zfp865
|
UTSW |
7 |
5,034,819 (GRCm39) |
missense |
probably damaging |
0.99 |
R9650:Zfp865
|
UTSW |
7 |
5,037,683 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATCTGTGGCAAGGTCTTCCG -3'
(R):5'- TGCCACAGCAGAACGTCTTG -3'
Sequencing Primer
(F):5'- AAGGTCTTCCGCGATGC -3'
(R):5'- AGCAGAACGTCTTGCTGGG -3'
|
Posted On |
2016-12-20 |