Incidental Mutation 'IGL01757:Zfp648'
ID |
153224 |
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 # |
IGL01757
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
154076933-154081435 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 154080671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 277
(S277P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083370
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086195]
|
AlphaFold |
D3Z0W3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086195
AA Change: S277P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000083370 Gene: ENSMUSG00000066797 AA Change: S277P
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,639,705 (GRCm39) |
|
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,773,140 (GRCm39) |
Y1789C |
probably damaging |
Het |
Cdcp1 |
A |
T |
9: 123,009,066 (GRCm39) |
Y537* |
probably null |
Het |
Chic2 |
T |
C |
5: 75,167,428 (GRCm39) |
|
probably benign |
Het |
Cpa5 |
G |
A |
6: 30,625,926 (GRCm39) |
|
probably benign |
Het |
Csgalnact2 |
T |
C |
6: 118,106,307 (GRCm39) |
R4G |
probably damaging |
Het |
Dnah10 |
T |
A |
5: 124,845,991 (GRCm39) |
V1510D |
probably benign |
Het |
Dnm2 |
T |
A |
9: 21,376,915 (GRCm39) |
F91L |
probably damaging |
Het |
Eif2b1 |
T |
C |
5: 124,711,203 (GRCm39) |
K189E |
probably benign |
Het |
Fgf17 |
A |
T |
14: 70,874,420 (GRCm39) |
L123Q |
probably damaging |
Het |
Ifna15 |
T |
C |
4: 88,476,322 (GRCm39) |
K54R |
possibly damaging |
Het |
Isg15 |
A |
G |
4: 156,284,301 (GRCm39) |
C76R |
probably damaging |
Het |
Ldb2 |
A |
T |
5: 44,699,209 (GRCm39) |
|
probably benign |
Het |
Lig4 |
A |
G |
8: 10,021,185 (GRCm39) |
I865T |
probably benign |
Het |
Lrrc46 |
T |
C |
11: 96,926,701 (GRCm39) |
Y154C |
probably damaging |
Het |
Lrrc8a |
G |
A |
2: 30,145,537 (GRCm39) |
R117H |
possibly damaging |
Het |
Mrpl2 |
A |
G |
17: 46,959,183 (GRCm39) |
I96V |
probably damaging |
Het |
Mtif2 |
G |
A |
11: 29,491,337 (GRCm39) |
|
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Ptpn23 |
G |
A |
9: 110,220,704 (GRCm39) |
R269W |
probably damaging |
Het |
Senp2 |
T |
C |
16: 21,828,414 (GRCm39) |
V8A |
probably benign |
Het |
Slf1 |
T |
C |
13: 77,232,559 (GRCm39) |
D515G |
probably benign |
Het |
Spc25 |
G |
A |
2: 69,032,952 (GRCm39) |
Q58* |
probably null |
Het |
Sult2a5 |
T |
C |
7: 13,399,079 (GRCm39) |
S229P |
probably damaging |
Het |
Tfap2d |
A |
G |
1: 19,174,804 (GRCm39) |
T86A |
probably benign |
Het |
Trp53bp1 |
A |
G |
2: 121,041,785 (GRCm39) |
V1257A |
probably damaging |
Het |
Wdr6 |
A |
G |
9: 108,453,427 (GRCm39) |
V152A |
possibly damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,814,662 (GRCm39) |
V49A |
probably benign |
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 |
IGL01557:Zfp648
|
APN |
1 |
154,080,426 (GRCm39) |
missense |
probably benign |
|
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 |
2014-02-04 |