Incidental Mutation 'IGL02868:Zfp251'
| ID |
362398 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp251
|
| Ensembl Gene |
ENSMUSG00000022526 |
| Gene Name |
zinc finger protein 251 |
| Synonyms |
9130001M19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02868
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76736331-76755635 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76738734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 115
(S115P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080406]
[ENSMUST00000229494]
|
| AlphaFold |
Q6PCX8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080406
AA Change: S120P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000079268
Gene: ENSMUSG00000022526
AA Change: S120P
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
15 |
75 |
3.24e-32 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
4.94e-5 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
2.71e-2 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
1.3e-4 |
SMART |
|
PDB:1MEY|G
|
551 |
610 |
2e-8 |
PDB |
|
Blast:PHD
|
556 |
610 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229494
AA Change: S115P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230315
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap4 |
A |
G |
X: 72,944,008 (GRCm39) |
I224T |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,621,639 (GRCm39) |
D758G |
probably damaging |
Het |
| Clca3b |
C |
A |
3: 144,533,325 (GRCm39) |
G569V |
probably damaging |
Het |
| Dlgap4 |
G |
A |
2: 156,542,816 (GRCm39) |
R73Q |
probably damaging |
Het |
| Efcc1 |
C |
T |
6: 87,728,743 (GRCm39) |
|
probably benign |
Het |
| Eno3 |
T |
A |
11: 70,552,826 (GRCm39) |
V369E |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,222,425 (GRCm39) |
C1022* |
probably null |
Het |
| Grhl3 |
T |
C |
4: 135,281,915 (GRCm39) |
D319G |
probably damaging |
Het |
| Huwe1 |
G |
A |
X: 150,691,829 (GRCm39) |
R2538H |
possibly damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,965 (GRCm39) |
L2001H |
probably benign |
Het |
| Ms4a4d |
T |
A |
19: 11,527,646 (GRCm39) |
I51N |
probably damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,761,588 (GRCm39) |
N522S |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,966 (GRCm39) |
I133T |
probably damaging |
Het |
| Ninl |
A |
G |
2: 150,778,974 (GRCm39) |
Y1296H |
probably benign |
Het |
| Nipal3 |
A |
G |
4: 135,194,182 (GRCm39) |
S284P |
probably damaging |
Het |
| Or4k40 |
A |
T |
2: 111,250,838 (GRCm39) |
F153I |
possibly damaging |
Het |
| Or5g9 |
A |
T |
2: 85,551,919 (GRCm39) |
T57S |
probably benign |
Het |
| Pramel5 |
G |
T |
4: 143,997,922 (GRCm39) |
N440K |
probably benign |
Het |
| Rabep1 |
T |
C |
11: 70,765,572 (GRCm39) |
V12A |
probably benign |
Het |
| Rbm5 |
G |
T |
9: 107,626,899 (GRCm39) |
|
probably benign |
Het |
| Ric3 |
T |
C |
7: 108,653,626 (GRCm39) |
E155G |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,954,507 (GRCm39) |
M897K |
probably benign |
Het |
| Slc39a8 |
G |
T |
3: 135,561,787 (GRCm39) |
A169S |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Synrg |
G |
A |
11: 83,877,876 (GRCm39) |
|
probably benign |
Het |
| Tas2r107 |
T |
C |
6: 131,636,249 (GRCm39) |
T267A |
probably benign |
Het |
| Tead3 |
G |
T |
17: 28,552,069 (GRCm39) |
Y354* |
probably null |
Het |
| Trim3 |
T |
C |
7: 105,262,239 (GRCm39) |
K579R |
possibly damaging |
Het |
| Uaca |
A |
T |
9: 60,770,919 (GRCm39) |
K362M |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,316 (GRCm39) |
I658T |
possibly damaging |
Het |
| Vps13b |
C |
T |
15: 35,884,665 (GRCm39) |
P3113S |
probably benign |
Het |
| Zfp683 |
G |
A |
4: 133,783,177 (GRCm39) |
V214M |
probably benign |
Het |
|
| Other mutations in Zfp251 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:Zfp251
|
APN |
15 |
76,738,755 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0011:Zfp251
|
UTSW |
15 |
76,738,754 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0011:Zfp251
|
UTSW |
15 |
76,738,754 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1199:Zfp251
|
UTSW |
15 |
76,738,436 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1201:Zfp251
|
UTSW |
15 |
76,738,436 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1321:Zfp251
|
UTSW |
15 |
76,738,436 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1322:Zfp251
|
UTSW |
15 |
76,738,436 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1565:Zfp251
|
UTSW |
15 |
76,737,239 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1565:Zfp251
|
UTSW |
15 |
76,737,238 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1587:Zfp251
|
UTSW |
15 |
76,754,484 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1752:Zfp251
|
UTSW |
15 |
76,737,863 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3771:Zfp251
|
UTSW |
15 |
76,737,836 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3772:Zfp251
|
UTSW |
15 |
76,737,836 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3773:Zfp251
|
UTSW |
15 |
76,737,836 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4684:Zfp251
|
UTSW |
15 |
76,738,607 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5733:Zfp251
|
UTSW |
15 |
76,754,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6341:Zfp251
|
UTSW |
15 |
76,738,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7050:Zfp251
|
UTSW |
15 |
76,738,496 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7605:Zfp251
|
UTSW |
15 |
76,738,557 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8783:Zfp251
|
UTSW |
15 |
76,737,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9662:Zfp251
|
UTSW |
15 |
76,737,520 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2015-12-18 |
Incidental Mutation