Incidental Mutation 'R5380:Zfp281'
ID |
425786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp281
|
Ensembl Gene |
ENSMUSG00000041483 |
Gene Name |
zinc finger protein 281 |
Synonyms |
|
MMRRC Submission |
042955-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5380 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
136552639-136557791 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136553676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 218
(K218R)
|
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: K218R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000039003 Gene: ENSMUSG00000041483 AA Change: K218R
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: K218R
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107677 Gene: ENSMUSG00000041483 AA Change: K218R
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
A |
T |
4: 40,177,848 (GRCm39) |
I290F |
probably damaging |
Het |
Cfap107 |
A |
T |
4: 144,150,372 (GRCm39) |
W70R |
probably damaging |
Het |
Cmip |
T |
A |
8: 118,149,629 (GRCm39) |
C155S |
probably damaging |
Het |
Cyba |
G |
T |
8: 123,153,718 (GRCm39) |
P82T |
possibly damaging |
Het |
Dgkb |
C |
T |
12: 38,177,299 (GRCm39) |
R202W |
possibly damaging |
Het |
Dnah6 |
T |
C |
6: 73,014,598 (GRCm39) |
E3611G |
probably damaging |
Het |
Dnah7b |
A |
T |
1: 46,256,351 (GRCm39) |
S1885C |
probably benign |
Het |
Dop1b |
A |
G |
16: 93,560,298 (GRCm39) |
E748G |
probably damaging |
Het |
Dusp18 |
C |
A |
11: 3,847,037 (GRCm39) |
P9Q |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,943,013 (GRCm39) |
D635E |
probably damaging |
Het |
Fbxo25 |
T |
A |
8: 13,971,886 (GRCm39) |
S79R |
probably benign |
Het |
Fgfr4 |
T |
A |
13: 55,315,230 (GRCm39) |
L675Q |
probably damaging |
Het |
Foxo1 |
T |
A |
3: 52,176,446 (GRCm39) |
L75Q |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,805,742 (GRCm39) |
V687A |
possibly damaging |
Het |
Gga3 |
G |
T |
11: 115,479,257 (GRCm39) |
P354Q |
probably damaging |
Het |
Gm11077 |
A |
T |
6: 140,675,048 (GRCm39) |
K13N |
unknown |
Het |
Haus4 |
T |
A |
14: 54,787,232 (GRCm39) |
K75M |
probably damaging |
Het |
Igfn1 |
G |
A |
1: 135,893,825 (GRCm39) |
T2085M |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Lims1 |
A |
T |
10: 58,252,492 (GRCm39) |
I321L |
probably damaging |
Het |
Ms4a6b |
A |
T |
19: 11,499,044 (GRCm39) |
I53F |
probably damaging |
Het |
Msl3l2 |
A |
G |
10: 55,991,668 (GRCm39) |
D131G |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,370,035 (GRCm39) |
V189A |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pfkl |
T |
G |
10: 77,833,423 (GRCm39) |
I260L |
possibly damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,146,171 (GRCm39) |
Y128H |
probably benign |
Het |
Prpf6 |
T |
A |
2: 181,250,059 (GRCm39) |
L73Q |
probably damaging |
Het |
R3hdm2 |
T |
C |
10: 127,321,316 (GRCm39) |
V658A |
probably damaging |
Het |
Rab27b |
T |
C |
18: 70,129,226 (GRCm39) |
T23A |
probably damaging |
Het |
Rabif |
A |
G |
1: 134,433,980 (GRCm39) |
E98G |
probably damaging |
Het |
Ror2 |
T |
C |
13: 53,271,185 (GRCm39) |
D378G |
possibly damaging |
Het |
Spata21 |
A |
G |
4: 140,834,496 (GRCm39) |
T494A |
probably damaging |
Het |
Ssh2 |
A |
G |
11: 77,344,771 (GRCm39) |
K919E |
probably benign |
Het |
Tnrc6b |
C |
G |
15: 80,763,766 (GRCm39) |
P423A |
possibly damaging |
Het |
Tomm40 |
A |
G |
7: 19,435,675 (GRCm39) |
F352L |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
Tspo2 |
A |
G |
17: 48,755,780 (GRCm39) |
F93L |
probably benign |
Het |
V1ra8 |
T |
A |
6: 90,180,004 (GRCm39) |
I69K |
probably damaging |
Het |
Zan |
T |
C |
5: 137,456,102 (GRCm39) |
T1353A |
unknown |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGCAGTCCTTGGTGAGCATC -3'
(R):5'- GTGTGGATGAGGACATGTCTCC -3'
Sequencing Primer
(F):5'- CTGAAGAGCGATCACCAGGC -3'
(R):5'- ATGAGGACATGTCTCCGCAGG -3'
|
Posted On |
2016-08-04 |