Incidental Mutation 'R5946:Zfp647'
| ID |
472199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp647
|
| Ensembl Gene |
ENSMUSG00000054967 |
| Gene Name |
zinc finger protein 647 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5946 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76910371-76925448 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76912085 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 125
(P125L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048854]
[ENSMUST00000229055]
[ENSMUST00000229865]
|
| AlphaFold |
Q7TNU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048854
AA Change: P125L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041575
Gene: ENSMUSG00000054967
AA Change: P125L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
KRAB
|
17 |
77 |
7.05e-33 |
SMART |
|
ZnF_C2H2
|
174 |
196 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
9.08e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229055
AA Change: P125L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229865
AA Change: P125L
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1789 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,625,952 (GRCm38) |
F1137S |
probably damaging |
Het |
| Actr6 |
G |
T |
10: 89,728,192 (GRCm38) |
Q73K |
probably benign |
Het |
| Adamtsl3 |
G |
A |
7: 82,576,057 (GRCm38) |
G358D |
probably damaging |
Het |
| Aggf1 |
A |
G |
13: 95,371,576 (GRCm38) |
V94A |
probably damaging |
Het |
| Arpc3 |
A |
G |
5: 122,403,396 (GRCm38) |
Y57C |
probably damaging |
Het |
| Asb2 |
A |
G |
12: 103,321,555 (GRCm38) |
Y630H |
probably benign |
Het |
| Atp1a1 |
A |
T |
3: 101,589,774 (GRCm38) |
N405K |
probably benign |
Het |
| C6 |
G |
T |
15: 4,808,514 (GRCm38) |
D869Y |
possibly damaging |
Het |
| Cds2 |
A |
G |
2: 132,297,248 (GRCm38) |
Y137C |
probably damaging |
Het |
| Ceacam12 |
A |
T |
7: 18,069,206 (GRCm38) |
E179V |
probably damaging |
Het |
| Chgb |
T |
A |
2: 132,792,596 (GRCm38) |
Y153N |
probably benign |
Het |
| Cit |
T |
A |
5: 115,997,534 (GRCm38) |
L1831Q |
probably damaging |
Het |
| Cpne8 |
C |
A |
15: 90,488,988 (GRCm38) |
*578L |
probably null |
Het |
| Cspg5 |
A |
G |
9: 110,251,083 (GRCm38) |
T440A |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,559,308 (GRCm38) |
V1393G |
probably damaging |
Het |
| Dnajb8 |
A |
G |
6: 88,222,593 (GRCm38) |
D37G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,174,192 (GRCm38) |
I1063M |
probably benign |
Het |
| Efs |
T |
G |
14: 54,919,494 (GRCm38) |
|
probably null |
Het |
| Gpatch1 |
A |
G |
7: 35,291,832 (GRCm38) |
S596P |
probably damaging |
Het |
| Hbs1l |
C |
A |
10: 21,341,756 (GRCm38) |
H190Q |
probably benign |
Het |
| Ighm |
A |
G |
12: 113,422,709 (GRCm38) |
V7A |
unknown |
Het |
| Ivd |
A |
T |
2: 118,876,889 (GRCm38) |
I295F |
possibly damaging |
Het |
| Kcnq5 |
A |
C |
1: 21,505,707 (GRCm38) |
S258A |
probably damaging |
Het |
| Mad1l1 |
G |
T |
5: 140,261,579 (GRCm38) |
P331Q |
probably damaging |
Het |
| Mcf2l |
G |
T |
8: 13,013,922 (GRCm38) |
G1045C |
probably damaging |
Het |
| Mcoln1 |
T |
A |
8: 3,508,701 (GRCm38) |
I233N |
probably damaging |
Het |
| Mmp13 |
T |
C |
9: 7,276,580 (GRCm38) |
L225P |
probably damaging |
Het |
| Muc5ac |
G |
A |
7: 141,817,907 (GRCm38) |
C2615Y |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,621,395 (GRCm38) |
F516L |
probably damaging |
Het |
| Obsl1 |
A |
T |
1: 75,491,207 (GRCm38) |
S1347R |
probably damaging |
Het |
| Ogn |
A |
G |
13: 49,618,285 (GRCm38) |
N207S |
probably benign |
Het |
| Olfr132 |
C |
A |
17: 38,130,707 (GRCm38) |
A162S |
probably benign |
Het |
| Olfr874 |
T |
A |
9: 37,747,034 (GRCm38) |
L300Q |
probably damaging |
Het |
| Pcdha2 |
G |
T |
18: 36,941,106 (GRCm38) |
V597L |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,382,063 (GRCm38) |
Y2126F |
possibly damaging |
Het |
| Pgbd5 |
A |
T |
8: 124,374,317 (GRCm38) |
M400K |
possibly damaging |
Het |
| Pklr |
A |
T |
3: 89,136,196 (GRCm38) |
E5V |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,305,067 (GRCm38) |
D94E |
probably benign |
Het |
| Ppan |
C |
T |
9: 20,889,673 (GRCm38) |
Q111* |
probably null |
Het |
| Prkcb |
A |
G |
7: 122,544,703 (GRCm38) |
N330S |
probably benign |
Het |
| Prl4a1 |
T |
A |
13: 28,018,516 (GRCm38) |
W25R |
probably damaging |
Het |
| Rars2 |
T |
A |
4: 34,656,855 (GRCm38) |
H501Q |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,726,953 (GRCm38) |
D2114G |
probably damaging |
Het |
| Serinc2 |
G |
T |
4: 130,255,521 (GRCm38) |
T351K |
possibly damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,537,851 (GRCm38) |
F358L |
probably damaging |
Het |
| Sorcs2 |
A |
C |
5: 36,029,083 (GRCm38) |
V905G |
probably damaging |
Het |
| Tekt3 |
G |
C |
11: 63,094,747 (GRCm38) |
A460P |
probably damaging |
Het |
| Tm4sf1 |
T |
G |
3: 57,292,868 (GRCm38) |
I109L |
possibly damaging |
Het |
| Tmc5 |
A |
T |
7: 118,670,725 (GRCm38) |
E899D |
probably damaging |
Het |
| Tmem268 |
C |
T |
4: 63,568,509 (GRCm38) |
P90S |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,782,734 (GRCm38) |
M55V |
probably benign |
Het |
| Trip10 |
T |
G |
17: 57,250,963 (GRCm38) |
V50G |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 77,115,054 (GRCm38) |
C990* |
probably null |
Het |
| Uts2 |
A |
G |
4: 150,999,049 (GRCm38) |
D39G |
probably benign |
Het |
| Vezf1 |
T |
A |
11: 88,073,734 (GRCm38) |
C49* |
probably null |
Het |
| Wee2 |
T |
A |
6: 40,463,212 (GRCm38) |
N431K |
probably null |
Het |
| Yeats2 |
C |
A |
16: 20,207,763 (GRCm38) |
Y796* |
probably null |
Het |
| Zfp592 |
G |
A |
7: 81,037,897 (GRCm38) |
G890D |
possibly damaging |
Het |
|
| Other mutations in Zfp647 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01565:Zfp647
|
APN |
15 |
76,911,670 (GRCm38) |
nonsense |
probably null |
|
|
IGL01680:Zfp647
|
APN |
15 |
76,917,768 (GRCm38) |
splice site |
probably benign |
|
|
IGL02647:Zfp647
|
APN |
15 |
76,917,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03213:Zfp647
|
APN |
15 |
76,911,977 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL03401:Zfp647
|
APN |
15 |
76,911,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0418:Zfp647
|
UTSW |
15 |
76,911,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1479:Zfp647
|
UTSW |
15 |
76,911,203 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1913:Zfp647
|
UTSW |
15 |
76,911,951 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1959:Zfp647
|
UTSW |
15 |
76,911,114 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2176:Zfp647
|
UTSW |
15 |
76,911,660 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3076:Zfp647
|
UTSW |
15 |
76,918,009 (GRCm38) |
start codon destroyed |
probably null |
|
|
R3077:Zfp647
|
UTSW |
15 |
76,918,009 (GRCm38) |
start codon destroyed |
probably null |
|
|
R3701:Zfp647
|
UTSW |
15 |
76,910,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3702:Zfp647
|
UTSW |
15 |
76,910,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3960:Zfp647
|
UTSW |
15 |
76,910,976 (GRCm38) |
splice site |
probably null |
|
|
R4938:Zfp647
|
UTSW |
15 |
76,911,044 (GRCm38) |
frame shift |
probably null |
|
|
R4939:Zfp647
|
UTSW |
15 |
76,911,044 (GRCm38) |
frame shift |
probably null |
|
|
R5196:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5197:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5345:Zfp647
|
UTSW |
15 |
76,911,495 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R5415:Zfp647
|
UTSW |
15 |
76,911,393 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5791:Zfp647
|
UTSW |
15 |
76,918,006 (GRCm38) |
missense |
unknown |
|
|
R5942:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5944:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5945:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5947:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6005:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6007:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6073:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6074:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6101:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6102:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6103:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6126:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6127:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6129:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6136:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6151:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6305:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6306:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6329:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6721:Zfp647
|
UTSW |
15 |
76,911,876 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7158:Zfp647
|
UTSW |
15 |
76,917,305 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7239:Zfp647
|
UTSW |
15 |
76,911,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7611:Zfp647
|
UTSW |
15 |
76,911,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8066:Zfp647
|
UTSW |
15 |
76,911,895 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8170:Zfp647
|
UTSW |
15 |
76,911,371 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8346:Zfp647
|
UTSW |
15 |
76,911,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTTTCCACACTCAATGCAG -3'
(R):5'- CACATGGGAGACTGTGAAGC -3'
Sequencing Primer
(F):5'- CAGATATAGGGTCTCTCAACACTGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation