Incidental Mutation 'IGL02259:Zfp457'
| ID |
286656 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp457
|
| Ensembl Gene |
ENSMUSG00000055341 |
| Gene Name |
zinc finger protein 457 |
| Synonyms |
Rslcan-6 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL02259
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67440514-67454476 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67444471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 11
(A11T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049705]
[ENSMUST00000224325]
|
| AlphaFold |
L7N1X4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049705
AA Change: A11T
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: A11T
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.55e-29 |
SMART |
|
ZnF_C2H2
|
81 |
103 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
165 |
187 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
3.89e-3 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
7.67e-2 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
1.05e1 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
5.72e-1 |
SMART |
|
transmembrane domain
|
624 |
646 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225090
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225338
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang6 |
A |
G |
14: 44,239,363 (GRCm39) |
F122L |
probably benign |
Het |
| Atm |
A |
T |
9: 53,429,794 (GRCm39) |
|
probably benign |
Het |
| Ccsap |
G |
A |
8: 124,572,166 (GRCm39) |
T112M |
possibly damaging |
Het |
| Cd63 |
T |
C |
10: 128,747,843 (GRCm39) |
S113P |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,341,857 (GRCm39) |
F183L |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,355,687 (GRCm39) |
S321C |
probably damaging |
Het |
| Cyp2ab1 |
G |
A |
16: 20,131,897 (GRCm39) |
T281I |
probably damaging |
Het |
| Cyp2c40 |
A |
C |
19: 39,792,246 (GRCm39) |
C233G |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,978,588 (GRCm39) |
I2955T |
probably benign |
Het |
| Drc7 |
A |
G |
8: 95,782,733 (GRCm39) |
T33A |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,339,559 (GRCm39) |
Y481N |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,391,398 (GRCm39) |
E13V |
probably benign |
Het |
| Ifna4 |
A |
G |
4: 88,760,293 (GRCm39) |
K66E |
probably damaging |
Het |
| Kif14 |
T |
A |
1: 136,427,840 (GRCm39) |
M1103K |
probably benign |
Het |
| Kif6 |
A |
T |
17: 50,202,919 (GRCm39) |
|
probably benign |
Het |
| Lsm14a |
G |
T |
7: 34,070,558 (GRCm39) |
P113T |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,153,264 (GRCm39) |
N1096K |
probably damaging |
Het |
| Med13 |
C |
A |
11: 86,248,327 (GRCm39) |
G9W |
possibly damaging |
Het |
| Minar1 |
A |
T |
9: 89,484,412 (GRCm39) |
H328Q |
possibly damaging |
Het |
| Nbr1 |
G |
A |
11: 101,468,816 (GRCm39) |
A639T |
probably damaging |
Het |
| Nid2 |
G |
T |
14: 19,818,277 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,636,955 (GRCm39) |
D22G |
possibly damaging |
Het |
| Or13p10 |
G |
A |
4: 118,523,634 (GRCm39) |
V307I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Phkg2 |
A |
G |
7: 127,181,458 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,166 (GRCm39) |
|
probably null |
Het |
| Plch1 |
C |
T |
3: 63,630,170 (GRCm39) |
|
probably null |
Het |
| Prb1b |
A |
T |
6: 132,289,637 (GRCm39) |
D62E |
unknown |
Het |
| Prl8a1 |
A |
C |
13: 27,766,089 (GRCm39) |
V2G |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,069,297 (GRCm39) |
S482P |
possibly damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,703,166 (GRCm39) |
C760R |
probably damaging |
Het |
| Tgs1 |
A |
G |
4: 3,604,743 (GRCm39) |
N722D |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,898 (GRCm39) |
D28G |
probably benign |
Het |
| Zfp879 |
T |
C |
11: 50,729,255 (GRCm39) |
S48G |
probably benign |
Het |
|
| Other mutations in Zfp457 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Zfp457
|
APN |
13 |
67,442,330 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0055:Zfp457
|
UTSW |
13 |
67,442,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0055:Zfp457
|
UTSW |
13 |
67,442,098 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0149:Zfp457
|
UTSW |
13 |
67,440,710 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0211:Zfp457
|
UTSW |
13 |
67,441,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0211:Zfp457
|
UTSW |
13 |
67,441,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0230:Zfp457
|
UTSW |
13 |
67,442,180 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0270:Zfp457
|
UTSW |
13 |
67,441,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0361:Zfp457
|
UTSW |
13 |
67,440,710 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0561:Zfp457
|
UTSW |
13 |
67,442,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0679:Zfp457
|
UTSW |
13 |
67,441,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Zfp457
|
UTSW |
13 |
67,441,378 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1136:Zfp457
|
UTSW |
13 |
67,441,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Zfp457
|
UTSW |
13 |
67,441,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Zfp457
|
UTSW |
13 |
67,441,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1616:Zfp457
|
UTSW |
13 |
67,444,375 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2348:Zfp457
|
UTSW |
13 |
67,441,468 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4930:Zfp457
|
UTSW |
13 |
67,442,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4964:Zfp457
|
UTSW |
13 |
67,441,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Zfp457
|
UTSW |
13 |
67,441,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Zfp457
|
UTSW |
13 |
67,440,899 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5129:Zfp457
|
UTSW |
13 |
67,441,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5714:Zfp457
|
UTSW |
13 |
67,444,490 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6017:Zfp457
|
UTSW |
13 |
67,441,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Zfp457
|
UTSW |
13 |
67,442,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6132:Zfp457
|
UTSW |
13 |
67,441,360 (GRCm39) |
nonsense |
probably null |
|
|
R6184:Zfp457
|
UTSW |
13 |
67,440,976 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6313:Zfp457
|
UTSW |
13 |
67,440,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Zfp457
|
UTSW |
13 |
67,441,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7170:Zfp457
|
UTSW |
13 |
67,442,241 (GRCm39) |
nonsense |
probably null |
|
|
R7184:Zfp457
|
UTSW |
13 |
67,442,065 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7859:Zfp457
|
UTSW |
13 |
67,454,445 (GRCm39) |
start gained |
probably benign |
|
|
R7973:Zfp457
|
UTSW |
13 |
67,441,882 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8308:Zfp457
|
UTSW |
13 |
67,441,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8346:Zfp457
|
UTSW |
13 |
67,441,862 (GRCm39) |
nonsense |
probably null |
|
|
R9114:Zfp457
|
UTSW |
13 |
67,442,068 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9205:Zfp457
|
UTSW |
13 |
67,441,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9525:Zfp457
|
UTSW |
13 |
67,441,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Zfp457
|
UTSW |
13 |
67,440,874 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2015-04-16 |
Incidental Mutation