Incidental Mutation 'IGL00531:Zfp281'
ID |
7366 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp281
|
Ensembl Gene |
ENSMUSG00000041483 |
Gene Name |
zinc finger protein 281 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00531
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
136552639-136557791 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 136555648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 875
(D875E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047734]
[ENSMUST00000112046]
|
AlphaFold |
Q99LI5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047734
AA Change: D875E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039003 Gene: ENSMUSG00000041483 AA Change: D875E
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
36 |
N/A |
INTRINSIC |
low complexity region
|
83 |
95 |
N/A |
INTRINSIC |
low complexity region
|
161 |
171 |
N/A |
INTRINSIC |
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
ZnF_C2H2
|
258 |
280 |
3.34e-2 |
SMART |
ZnF_C2H2
|
286 |
308 |
6.78e-3 |
SMART |
ZnF_C2H2
|
314 |
336 |
1.43e-1 |
SMART |
ZnF_C2H2
|
342 |
362 |
2.97e1 |
SMART |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
low complexity region
|
488 |
501 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112046
AA Change: D875E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107677 Gene: ENSMUSG00000041483 AA Change: D875E
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
36 |
N/A |
INTRINSIC |
low complexity region
|
83 |
95 |
N/A |
INTRINSIC |
low complexity region
|
161 |
171 |
N/A |
INTRINSIC |
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
ZnF_C2H2
|
258 |
280 |
3.34e-2 |
SMART |
ZnF_C2H2
|
286 |
308 |
6.78e-3 |
SMART |
ZnF_C2H2
|
314 |
336 |
1.43e-1 |
SMART |
ZnF_C2H2
|
342 |
362 |
2.97e1 |
SMART |
low complexity region
|
397 |
407 |
N/A |
INTRINSIC |
low complexity region
|
488 |
501 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180797
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E7.5 and E8.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Dnah17 |
A |
G |
11: 117,933,999 (GRCm39) |
I3525T |
probably damaging |
Het |
Ednrb |
T |
C |
14: 104,057,455 (GRCm39) |
Y369C |
probably damaging |
Het |
Folh1 |
T |
A |
7: 86,368,977 (GRCm39) |
I717L |
possibly damaging |
Het |
Golga2 |
T |
A |
2: 32,195,226 (GRCm39) |
D706E |
probably benign |
Het |
Miip |
C |
A |
4: 147,950,322 (GRCm39) |
W91C |
probably damaging |
Het |
Nav3 |
T |
C |
10: 109,539,171 (GRCm39) |
S2077G |
probably null |
Het |
Nsrp1 |
G |
A |
11: 76,937,021 (GRCm39) |
R392* |
probably null |
Het |
Ryr3 |
T |
C |
2: 112,493,357 (GRCm39) |
|
probably benign |
Het |
Son |
A |
G |
16: 91,461,210 (GRCm39) |
K177R |
probably damaging |
Het |
Stau1 |
A |
G |
2: 166,806,542 (GRCm39) |
S13P |
probably benign |
Het |
Tnc |
G |
A |
4: 63,889,390 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
G |
A |
11: 87,964,320 (GRCm39) |
M157I |
probably benign |
Het |
|
Other mutations in Zfp281 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01408:Zfp281
|
APN |
1 |
136,553,853 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02037:Zfp281
|
APN |
1 |
136,555,185 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL03233:Zfp281
|
APN |
1 |
136,554,567 (GRCm39) |
missense |
possibly damaging |
0.82 |
PIT4486001:Zfp281
|
UTSW |
1 |
136,554,741 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1514:Zfp281
|
UTSW |
1 |
136,554,435 (GRCm39) |
missense |
probably benign |
0.00 |
R1784:Zfp281
|
UTSW |
1 |
136,553,091 (GRCm39) |
small insertion |
probably benign |
|
R1785:Zfp281
|
UTSW |
1 |
136,553,091 (GRCm39) |
small insertion |
probably benign |
|
R2049:Zfp281
|
UTSW |
1 |
136,553,091 (GRCm39) |
small insertion |
probably benign |
|
R2142:Zfp281
|
UTSW |
1 |
136,553,091 (GRCm39) |
small insertion |
probably benign |
|
R4086:Zfp281
|
UTSW |
1 |
136,553,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4087:Zfp281
|
UTSW |
1 |
136,553,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4088:Zfp281
|
UTSW |
1 |
136,553,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4090:Zfp281
|
UTSW |
1 |
136,553,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R4819:Zfp281
|
UTSW |
1 |
136,553,448 (GRCm39) |
missense |
probably benign |
|
R5380:Zfp281
|
UTSW |
1 |
136,553,676 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6033:Zfp281
|
UTSW |
1 |
136,554,464 (GRCm39) |
missense |
probably benign |
0.14 |
R6033:Zfp281
|
UTSW |
1 |
136,554,464 (GRCm39) |
missense |
probably benign |
0.14 |
R6056:Zfp281
|
UTSW |
1 |
136,553,178 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6213:Zfp281
|
UTSW |
1 |
136,553,250 (GRCm39) |
missense |
probably benign |
0.01 |
R7402:Zfp281
|
UTSW |
1 |
136,553,190 (GRCm39) |
missense |
probably damaging |
0.99 |
R7503:Zfp281
|
UTSW |
1 |
136,554,678 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7969:Zfp281
|
UTSW |
1 |
136,553,772 (GRCm39) |
missense |
probably benign |
0.06 |
R8343:Zfp281
|
UTSW |
1 |
136,555,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R8722:Zfp281
|
UTSW |
1 |
136,553,334 (GRCm39) |
missense |
probably benign |
0.00 |
R9199:Zfp281
|
UTSW |
1 |
136,553,643 (GRCm39) |
missense |
probably benign |
|
R9461:Zfp281
|
UTSW |
1 |
136,554,500 (GRCm39) |
missense |
probably benign |
0.28 |
R9487:Zfp281
|
UTSW |
1 |
136,555,143 (GRCm39) |
missense |
probably damaging |
0.96 |
R9532:Zfp281
|
UTSW |
1 |
136,554,894 (GRCm39) |
missense |
probably benign |
|
R9541:Zfp281
|
UTSW |
1 |
136,555,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |