Incidental Mutation 'R1322:Zfp251'
| ID |
157722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp251
|
| Ensembl Gene |
ENSMUSG00000022526 |
| Gene Name |
zinc finger protein 251 |
| Synonyms |
9130001M19Rik |
| MMRRC Submission |
039388-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R1322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76736331-76755635 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76738436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 219
(R219Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080406]
[ENSMUST00000229494]
|
| AlphaFold |
Q6PCX8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080406
AA Change: R219Q
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000079268
Gene: ENSMUSG00000022526
AA Change: R219Q
| 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 benign
Transcript: ENSMUST00000229494
AA Change: R214Q
PolyPhen 2
Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230315
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Col27a1 |
A |
C |
4: 63,246,803 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
G |
T |
10: 53,528,415 (GRCm39) |
D815E |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gpr162 |
G |
T |
6: 124,835,864 (GRCm39) |
T512K |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,651,297 (GRCm39) |
S1155R |
probably damaging |
Het |
| Itih2 |
A |
G |
2: 10,114,333 (GRCm39) |
V417A |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,732,418 (GRCm39) |
|
probably benign |
Het |
| Mecom |
G |
T |
3: 30,011,522 (GRCm39) |
P670Q |
probably damaging |
Het |
| Mgat4d |
A |
G |
8: 84,092,354 (GRCm39) |
T247A |
possibly damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,786,817 (GRCm39) |
F65L |
possibly damaging |
Het |
| Polr1c |
T |
C |
17: 46,555,089 (GRCm39) |
K327R |
possibly damaging |
Het |
| Prpf39 |
A |
T |
12: 65,089,436 (GRCm39) |
N58I |
possibly damaging |
Het |
| Sh3bp2 |
T |
A |
5: 34,712,837 (GRCm39) |
N92K |
probably damaging |
Het |
| Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
| Trgc3 |
T |
C |
13: 19,445,364 (GRCm39) |
F104S |
probably benign |
Het |
| Vmn2r88 |
T |
G |
14: 51,651,565 (GRCm39) |
I293S |
probably damaging |
Het |
| Zfp930 |
A |
G |
8: 69,680,820 (GRCm39) |
T171A |
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 |
|
IGL02868:Zfp251
|
APN |
15 |
76,738,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTTCCACACCAAGTGCAG -3'
(R):5'- GTAGGGAGCAGTTTCCCAAGAACG -3'
Sequencing Primer
(F):5'- ccttcccacactccttacac -3'
(R):5'- AGAACGCCCAGACTTCTGTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation