Incidental Mutation 'IGL03213:Zfp647'
| ID |
413389 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp647
|
| Ensembl Gene |
ENSMUSG00000054967 |
| Gene Name |
zinc finger protein 647 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
IGL03213
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76794571-76809648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76796177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 161
(V161A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048854]
[ENSMUST00000229055]
[ENSMUST00000229865]
|
| AlphaFold |
Q7TNU6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048854
AA Change: V161A
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041575
Gene: ENSMUSG00000054967
AA Change: V161A
| 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 |
possibly damaging
Transcript: ENSMUST00000229055
AA Change: V161A
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229865
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
A |
T |
2: 22,831,971 (GRCm39) |
D447E |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,260,616 (GRCm39) |
V175A |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,965,279 (GRCm39) |
D429G |
possibly damaging |
Het |
| Arap2 |
T |
A |
5: 62,906,438 (GRCm39) |
T194S |
probably benign |
Het |
| Arih2 |
T |
C |
9: 108,484,546 (GRCm39) |
T422A |
probably damaging |
Het |
| Arl5b |
T |
A |
2: 15,074,676 (GRCm39) |
N52K |
probably damaging |
Het |
| Atg13 |
G |
A |
2: 91,515,512 (GRCm39) |
H227Y |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,253,748 (GRCm39) |
T164A |
possibly damaging |
Het |
| Cep192 |
T |
C |
18: 67,998,708 (GRCm39) |
V2074A |
probably damaging |
Het |
| Ces2c |
T |
C |
8: 105,574,672 (GRCm39) |
I43T |
probably benign |
Het |
| Chrm3 |
G |
A |
13: 9,928,220 (GRCm39) |
T272I |
probably benign |
Het |
| Cln8 |
A |
G |
8: 14,944,845 (GRCm39) |
Y53C |
probably damaging |
Het |
| Cwc27 |
T |
A |
13: 104,932,911 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
A |
T |
5: 137,892,529 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
G |
T |
7: 105,404,279 (GRCm39) |
N2754K |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,387,805 (GRCm39) |
K84* |
probably null |
Het |
| Ednra |
T |
C |
8: 78,446,848 (GRCm39) |
T77A |
probably benign |
Het |
| Epn2 |
T |
C |
11: 61,410,510 (GRCm39) |
N553D |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gm10784 |
T |
A |
13: 50,099,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2e2 |
T |
C |
8: 34,242,525 (GRCm39) |
F76L |
probably damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,341,527 (GRCm39) |
V504E |
probably damaging |
Het |
| Ifitm2 |
A |
G |
7: 140,535,677 (GRCm39) |
V51A |
possibly damaging |
Het |
| Il16 |
C |
T |
7: 83,295,708 (GRCm39) |
E456K |
probably damaging |
Het |
| Lmod2 |
A |
T |
6: 24,603,615 (GRCm39) |
I197F |
possibly damaging |
Het |
| Lrrc14 |
T |
C |
15: 76,597,983 (GRCm39) |
S238P |
possibly damaging |
Het |
| Map3k1 |
A |
G |
13: 111,885,426 (GRCm39) |
|
probably benign |
Het |
| Phf11d |
C |
A |
14: 59,586,797 (GRCm39) |
R210S |
probably benign |
Het |
| Pigu |
T |
C |
2: 155,177,291 (GRCm39) |
N103S |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,701,587 (GRCm39) |
V289A |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,265,864 (GRCm39) |
S483R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,739,273 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
G |
5: 17,899,637 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
G |
T |
11: 87,458,184 (GRCm39) |
|
probably null |
Het |
| Sfmbt2 |
A |
G |
2: 10,409,385 (GRCm39) |
Y110C |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,061,933 (GRCm39) |
V328A |
possibly damaging |
Het |
| Smarca2 |
G |
A |
19: 26,601,375 (GRCm39) |
G31D |
probably damaging |
Het |
| Spmip1 |
G |
A |
6: 29,471,792 (GRCm39) |
M89I |
probably damaging |
Het |
| Tenm2 |
T |
G |
11: 35,914,157 (GRCm39) |
E2460A |
probably benign |
Het |
| Trim58 |
T |
A |
11: 58,541,993 (GRCm39) |
W318R |
probably benign |
Het |
| Ube3a |
C |
T |
7: 58,935,870 (GRCm39) |
Q585* |
probably null |
Het |
| Vmn2r17 |
T |
C |
5: 109,582,256 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zfp647 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01565:Zfp647
|
APN |
15 |
76,795,870 (GRCm39) |
nonsense |
probably null |
|
|
IGL01680:Zfp647
|
APN |
15 |
76,801,968 (GRCm39) |
splice site |
probably benign |
|
|
IGL02647:Zfp647
|
APN |
15 |
76,801,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03401:Zfp647
|
APN |
15 |
76,795,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Zfp647
|
UTSW |
15 |
76,795,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Zfp647
|
UTSW |
15 |
76,795,403 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1913:Zfp647
|
UTSW |
15 |
76,796,151 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1959:Zfp647
|
UTSW |
15 |
76,795,314 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2176:Zfp647
|
UTSW |
15 |
76,795,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3076:Zfp647
|
UTSW |
15 |
76,802,209 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3077:Zfp647
|
UTSW |
15 |
76,802,209 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3701:Zfp647
|
UTSW |
15 |
76,795,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3702:Zfp647
|
UTSW |
15 |
76,795,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3960:Zfp647
|
UTSW |
15 |
76,795,176 (GRCm39) |
splice site |
probably null |
|
|
R4938:Zfp647
|
UTSW |
15 |
76,795,244 (GRCm39) |
frame shift |
probably null |
|
|
R4939:Zfp647
|
UTSW |
15 |
76,795,244 (GRCm39) |
frame shift |
probably null |
|
|
R5196:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5197:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5345:Zfp647
|
UTSW |
15 |
76,795,695 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5415:Zfp647
|
UTSW |
15 |
76,795,593 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5791:Zfp647
|
UTSW |
15 |
76,802,206 (GRCm39) |
missense |
unknown |
|
|
R5942:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5944:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5945:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5946:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5947:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6005:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6007:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6073:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6074:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6101:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6102:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6103:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6126:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6127:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6129:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6136:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6151:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6305:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6306:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6329:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6721:Zfp647
|
UTSW |
15 |
76,796,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7158:Zfp647
|
UTSW |
15 |
76,801,505 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7239:Zfp647
|
UTSW |
15 |
76,795,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7611:Zfp647
|
UTSW |
15 |
76,795,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Zfp647
|
UTSW |
15 |
76,796,095 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8170:Zfp647
|
UTSW |
15 |
76,795,571 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8346:Zfp647
|
UTSW |
15 |
76,795,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation