Incidental Mutation 'IGL01557:Zfp648'
ID |
90761 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp648
|
Ensembl Gene |
ENSMUSG00000066797 |
Gene Name |
zinc finger protein 648 |
Synonyms |
Gm10178, LOC207678 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
IGL01557
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
154076933-154081435 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 154080426 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 195
(V195D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083370
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086195]
|
AlphaFold |
D3Z0W3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086195
AA Change: V195D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000083370 Gene: ENSMUSG00000066797 AA Change: V195D
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
236 |
258 |
1.82e-3 |
SMART |
ZnF_C2H2
|
264 |
286 |
1.28e-3 |
SMART |
ZnF_C2H2
|
292 |
315 |
1.2e-3 |
SMART |
ZnF_C2H2
|
321 |
343 |
1.95e-3 |
SMART |
ZnF_C2H2
|
349 |
371 |
8.94e-3 |
SMART |
ZnF_C2H2
|
377 |
399 |
8.34e-3 |
SMART |
ZnF_C2H2
|
405 |
427 |
4.54e-4 |
SMART |
ZnF_C2H2
|
433 |
455 |
4.47e-3 |
SMART |
ZnF_C2H2
|
461 |
483 |
5.81e-2 |
SMART |
ZnF_C2H2
|
489 |
511 |
1.2e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,101,792 (GRCm39) |
|
probably null |
Het |
Arl9 |
T |
G |
5: 77,151,948 (GRCm39) |
|
probably null |
Het |
Ces3a |
C |
A |
8: 105,784,383 (GRCm39) |
T439K |
probably damaging |
Het |
Cyp3a25 |
A |
G |
5: 145,921,711 (GRCm39) |
W408R |
probably damaging |
Het |
Defb22 |
T |
G |
2: 152,327,999 (GRCm39) |
D62A |
possibly damaging |
Het |
Dnah17 |
C |
T |
11: 117,964,512 (GRCm39) |
R2422Q |
probably damaging |
Het |
Ehd3 |
A |
G |
17: 74,112,275 (GRCm39) |
K13R |
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,975,221 (GRCm39) |
E1406G |
probably damaging |
Het |
Gak |
A |
C |
5: 108,732,203 (GRCm39) |
Y762D |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,923,522 (GRCm39) |
S1187P |
possibly damaging |
Het |
Ighmbp2 |
T |
C |
19: 3,331,472 (GRCm39) |
E68G |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,060,474 (GRCm39) |
T2448A |
probably damaging |
Het |
Lrrk2 |
T |
G |
15: 91,584,192 (GRCm39) |
C317W |
probably damaging |
Het |
Morc1 |
T |
A |
16: 48,319,129 (GRCm39) |
S278T |
probably damaging |
Het |
Mrps9 |
T |
C |
1: 42,890,510 (GRCm39) |
V20A |
probably benign |
Het |
Nutm1 |
A |
T |
2: 112,082,163 (GRCm39) |
N304K |
probably benign |
Het |
Or14j8 |
G |
A |
17: 38,263,742 (GRCm39) |
P58S |
probably damaging |
Het |
Pcdhb9 |
T |
C |
18: 37,536,100 (GRCm39) |
V698A |
probably damaging |
Het |
Pitrm1 |
C |
A |
13: 6,602,720 (GRCm39) |
D70E |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,187,203 (GRCm39) |
T3702A |
possibly damaging |
Het |
Ppm1h |
A |
T |
10: 122,618,086 (GRCm39) |
|
probably null |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Ptpn5 |
T |
C |
7: 46,731,636 (GRCm39) |
Y411C |
probably damaging |
Het |
Spon2 |
G |
A |
5: 33,374,047 (GRCm39) |
A112V |
probably damaging |
Het |
|
Other mutations in Zfp648 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Zfp648
|
APN |
1 |
154,079,935 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01150:Zfp648
|
APN |
1 |
154,081,110 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01757:Zfp648
|
APN |
1 |
154,080,671 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02247:Zfp648
|
APN |
1 |
154,079,923 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4519001:Zfp648
|
UTSW |
1 |
154,080,687 (GRCm39) |
missense |
probably damaging |
0.98 |
R0001:Zfp648
|
UTSW |
1 |
154,081,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R0256:Zfp648
|
UTSW |
1 |
154,081,414 (GRCm39) |
missense |
probably benign |
0.08 |
R0266:Zfp648
|
UTSW |
1 |
154,080,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R0371:Zfp648
|
UTSW |
1 |
154,080,413 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1498:Zfp648
|
UTSW |
1 |
154,081,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R1562:Zfp648
|
UTSW |
1 |
154,080,138 (GRCm39) |
missense |
probably benign |
|
R1687:Zfp648
|
UTSW |
1 |
154,079,988 (GRCm39) |
missense |
probably benign |
0.15 |
R2128:Zfp648
|
UTSW |
1 |
154,080,353 (GRCm39) |
missense |
probably benign |
|
R2427:Zfp648
|
UTSW |
1 |
154,080,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R2567:Zfp648
|
UTSW |
1 |
154,080,695 (GRCm39) |
missense |
probably damaging |
0.98 |
R2844:Zfp648
|
UTSW |
1 |
154,080,881 (GRCm39) |
nonsense |
probably null |
|
R3711:Zfp648
|
UTSW |
1 |
154,080,304 (GRCm39) |
missense |
probably benign |
0.30 |
R4491:Zfp648
|
UTSW |
1 |
154,080,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R4693:Zfp648
|
UTSW |
1 |
154,080,152 (GRCm39) |
missense |
probably benign |
0.01 |
R5666:Zfp648
|
UTSW |
1 |
154,079,963 (GRCm39) |
missense |
probably benign |
0.00 |
R5670:Zfp648
|
UTSW |
1 |
154,079,963 (GRCm39) |
missense |
probably benign |
0.00 |
R7432:Zfp648
|
UTSW |
1 |
154,080,783 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8069:Zfp648
|
UTSW |
1 |
154,079,862 (GRCm39) |
missense |
probably benign |
0.34 |
R8137:Zfp648
|
UTSW |
1 |
154,081,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R8282:Zfp648
|
UTSW |
1 |
154,080,535 (GRCm39) |
missense |
probably benign |
0.25 |
R9023:Zfp648
|
UTSW |
1 |
154,080,914 (GRCm39) |
missense |
probably damaging |
0.98 |
R9489:Zfp648
|
UTSW |
1 |
154,080,110 (GRCm39) |
missense |
probably benign |
0.17 |
R9520:Zfp648
|
UTSW |
1 |
154,081,221 (GRCm39) |
missense |
probably benign |
|
R9605:Zfp648
|
UTSW |
1 |
154,080,110 (GRCm39) |
missense |
probably benign |
0.17 |
Z1088:Zfp648
|
UTSW |
1 |
154,080,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-12-09 |