Incidental Mutation 'IGL03233:Zfp281'
| ID |
413966 |
| 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 # |
IGL03233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
136552639-136557791 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136554567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 515
(Q515R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047734]
[ENSMUST00000112046]
|
| AlphaFold |
Q99LI5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047734
AA Change: Q515R
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039003
Gene: ENSMUSG00000041483
AA Change: Q515R
| 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 |
possibly damaging
Transcript: ENSMUST00000112046
AA Change: Q515R
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107677
Gene: ENSMUSG00000041483
AA Change: Q515R
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
T |
C |
4: 86,260,357 (GRCm39) |
F856S |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,727,739 (GRCm39) |
D457G |
probably damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,512,107 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,220,116 (GRCm39) |
P405T |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
| Atg4c |
A |
T |
4: 99,117,740 (GRCm39) |
Y343F |
probably benign |
Het |
| Cab39 |
T |
A |
1: 85,770,044 (GRCm39) |
M175K |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,263,600 (GRCm39) |
E1257G |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,921,707 (GRCm39) |
Y19H |
probably benign |
Het |
| Cst6 |
T |
C |
19: 5,399,289 (GRCm39) |
D25G |
probably damaging |
Het |
| Cyp4a30b |
A |
T |
4: 115,316,167 (GRCm39) |
T298S |
probably benign |
Het |
| Dgkk |
T |
C |
X: 6,770,077 (GRCm39) |
L352P |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,127,611 (GRCm39) |
Y433N |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
| Esco1 |
A |
G |
18: 10,574,877 (GRCm39) |
W208R |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,235,449 (GRCm39) |
D676G |
probably benign |
Het |
| Foxp3 |
T |
C |
X: 7,453,662 (GRCm39) |
|
probably benign |
Het |
| Gpr108 |
T |
A |
17: 57,552,042 (GRCm39) |
I123F |
probably benign |
Het |
| Gsdmc4 |
A |
T |
15: 63,774,709 (GRCm39) |
V24E |
probably damaging |
Het |
| Jam3 |
C |
A |
9: 27,013,217 (GRCm39) |
V118F |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,833,735 (GRCm39) |
I489F |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,614,095 (GRCm39) |
V1288D |
probably damaging |
Het |
| Mark2 |
G |
T |
19: 7,262,091 (GRCm39) |
H308N |
possibly damaging |
Het |
| Mms19 |
T |
C |
19: 41,935,352 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,198,313 (GRCm39) |
I477N |
possibly damaging |
Het |
| Npm1 |
G |
T |
11: 33,106,717 (GRCm39) |
Q204K |
probably benign |
Het |
| Nsun5 |
G |
A |
5: 135,404,299 (GRCm39) |
V369M |
probably damaging |
Het |
| Or7a39 |
C |
A |
10: 78,715,406 (GRCm39) |
Y133* |
probably null |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,318 (GRCm39) |
N565K |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,258,924 (GRCm39) |
F1155L |
possibly damaging |
Het |
| Pus10 |
T |
A |
11: 23,662,241 (GRCm39) |
W304R |
probably damaging |
Het |
| Rab32 |
G |
A |
10: 10,422,057 (GRCm39) |
Q221* |
probably null |
Het |
| Rlf |
A |
G |
4: 121,039,797 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,767,081 (GRCm39) |
I418F |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,259,918 (GRCm39) |
I642T |
possibly damaging |
Het |
| Ston2 |
T |
A |
12: 91,614,627 (GRCm39) |
T594S |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,229,726 (GRCm39) |
T2802A |
unknown |
Het |
| Tshz3 |
T |
A |
7: 36,469,504 (GRCm39) |
Y498N |
probably damaging |
Het |
| Zfp280b |
T |
A |
10: 75,875,603 (GRCm39) |
I494N |
probably damaging |
Het |
|
| Other mutations in Zfp281 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00531:Zfp281
|
APN |
1 |
136,555,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation