Incidental Mutation 'IGL02688:Zfp277'
ID |
303633 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp277
|
Ensembl Gene |
ENSMUSG00000055917 |
Gene Name |
zinc finger protein 277 |
Synonyms |
NIRF4, 2410017E24Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
IGL02688
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
40365045-40495789 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40378687 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 390
(V390A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064226
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069637]
[ENSMUST00000069692]
|
AlphaFold |
E9Q6D6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069637
AA Change: V264A
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000068032 Gene: ENSMUSG00000055917 AA Change: V264A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
59 |
84 |
4.27e1 |
SMART |
coiled coil region
|
143 |
171 |
N/A |
INTRINSIC |
ZnF_C2H2
|
174 |
198 |
3.85e1 |
SMART |
ZnF_C2H2
|
225 |
249 |
2.24e-3 |
SMART |
low complexity region
|
280 |
292 |
N/A |
INTRINSIC |
ZnF_C2H2
|
303 |
326 |
1.91e1 |
SMART |
ZnF_C2H2
|
356 |
382 |
4.94e0 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069692
AA Change: V390A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000064226 Gene: ENSMUSG00000055917 AA Change: V390A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
185 |
210 |
4.27e1 |
SMART |
coiled coil region
|
269 |
297 |
N/A |
INTRINSIC |
ZnF_C2H2
|
300 |
324 |
3.85e1 |
SMART |
ZnF_C2H2
|
351 |
375 |
2.24e-3 |
SMART |
low complexity region
|
406 |
418 |
N/A |
INTRINSIC |
ZnF_C2H2
|
429 |
452 |
1.91e1 |
SMART |
ZnF_C2H2
|
482 |
508 |
4.94e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222394
|
Meta Mutation Damage Score |
0.2314 |
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early cellular preplicative senescence in MEFs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
C |
A |
8: 41,279,357 (GRCm39) |
R583S |
probably benign |
Het |
Bcl9l |
C |
T |
9: 44,416,560 (GRCm39) |
T211I |
possibly damaging |
Het |
C6 |
A |
G |
15: 4,827,802 (GRCm39) |
I724V |
probably benign |
Het |
Cacna2d4 |
T |
A |
6: 119,247,710 (GRCm39) |
|
probably null |
Het |
Casp4 |
A |
G |
9: 5,322,844 (GRCm39) |
E40G |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Dnah7a |
A |
C |
1: 53,483,631 (GRCm39) |
M3382R |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,235,033 (GRCm39) |
L3526P |
probably damaging |
Het |
Eya4 |
A |
G |
10: 23,035,008 (GRCm39) |
S116P |
probably benign |
Het |
Gabra4 |
T |
A |
5: 71,729,510 (GRCm39) |
E423D |
probably benign |
Het |
Ighv1-67 |
T |
G |
12: 115,567,643 (GRCm39) |
T90P |
probably damaging |
Het |
Kcnh8 |
A |
G |
17: 53,266,471 (GRCm39) |
T828A |
probably benign |
Het |
Nr5a2 |
A |
G |
1: 136,868,145 (GRCm39) |
|
probably null |
Het |
Nup214 |
C |
T |
2: 31,921,287 (GRCm39) |
P1237S |
probably benign |
Het |
Phactr3 |
A |
G |
2: 177,920,792 (GRCm39) |
D215G |
probably damaging |
Het |
Phf2 |
G |
T |
13: 48,959,315 (GRCm39) |
P897Q |
unknown |
Het |
Pla2r1 |
T |
C |
2: 60,285,545 (GRCm39) |
R690G |
probably damaging |
Het |
Ppargc1b |
A |
G |
18: 61,445,314 (GRCm39) |
S181P |
possibly damaging |
Het |
Sele |
A |
T |
1: 163,877,699 (GRCm39) |
I165F |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,141,625 (GRCm39) |
S1626P |
probably benign |
Het |
Tenm2 |
A |
G |
11: 35,959,285 (GRCm39) |
I1088T |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,775,927 (GRCm39) |
S69G |
probably damaging |
Het |
Trmt5 |
C |
A |
12: 73,328,232 (GRCm39) |
E324* |
probably null |
Het |
Ttll3 |
T |
C |
6: 113,376,700 (GRCm39) |
I360T |
probably benign |
Het |
|
Other mutations in Zfp277 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01466:Zfp277
|
APN |
12 |
40,428,825 (GRCm39) |
missense |
probably benign |
0.24 |
IGL01477:Zfp277
|
APN |
12 |
40,370,675 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02081:Zfp277
|
APN |
12 |
40,378,795 (GRCm39) |
nonsense |
probably null |
|
IGL02165:Zfp277
|
APN |
12 |
40,365,802 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02613:Zfp277
|
APN |
12 |
40,379,514 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02825:Zfp277
|
APN |
12 |
40,367,175 (GRCm39) |
missense |
probably benign |
0.06 |
R0194:Zfp277
|
UTSW |
12 |
40,428,876 (GRCm39) |
splice site |
probably benign |
|
R0226:Zfp277
|
UTSW |
12 |
40,414,161 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0843:Zfp277
|
UTSW |
12 |
40,370,599 (GRCm39) |
critical splice donor site |
probably null |
|
R1263:Zfp277
|
UTSW |
12 |
40,414,164 (GRCm39) |
missense |
probably damaging |
0.99 |
R1584:Zfp277
|
UTSW |
12 |
40,428,825 (GRCm39) |
missense |
probably benign |
0.12 |
R1609:Zfp277
|
UTSW |
12 |
40,378,719 (GRCm39) |
missense |
probably damaging |
0.99 |
R1644:Zfp277
|
UTSW |
12 |
40,379,609 (GRCm39) |
splice site |
probably null |
|
R1789:Zfp277
|
UTSW |
12 |
40,414,084 (GRCm39) |
missense |
probably benign |
0.00 |
R1882:Zfp277
|
UTSW |
12 |
40,495,745 (GRCm39) |
missense |
probably benign |
0.03 |
R2011:Zfp277
|
UTSW |
12 |
40,367,217 (GRCm39) |
nonsense |
probably null |
|
R4884:Zfp277
|
UTSW |
12 |
40,413,152 (GRCm39) |
missense |
probably damaging |
0.97 |
R4976:Zfp277
|
UTSW |
12 |
40,378,687 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5119:Zfp277
|
UTSW |
12 |
40,378,687 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5532:Zfp277
|
UTSW |
12 |
40,385,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R6340:Zfp277
|
UTSW |
12 |
40,368,548 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7191:Zfp277
|
UTSW |
12 |
40,379,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R7378:Zfp277
|
UTSW |
12 |
40,365,852 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7446:Zfp277
|
UTSW |
12 |
40,378,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R7564:Zfp277
|
UTSW |
12 |
40,379,594 (GRCm39) |
missense |
probably damaging |
0.99 |
R7861:Zfp277
|
UTSW |
12 |
40,365,880 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8428:Zfp277
|
UTSW |
12 |
40,379,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R9673:Zfp277
|
UTSW |
12 |
40,370,611 (GRCm39) |
missense |
probably benign |
0.15 |
|
Posted On |
2015-04-16 |