Incidental Mutation 'IGL02168:Zfp458'
| ID |
282783 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp458
|
| Ensembl Gene |
ENSMUSG00000055480 |
| Gene Name |
zinc finger protein 458 |
| Synonyms |
Rslcan-7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02168
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67402982-67426530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67406098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 111
(C111S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045969]
[ENSMUST00000223990]
[ENSMUST00000225772]
|
| AlphaFold |
Q6P5C7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045969
AA Change: C114S
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: C114S
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
5.27e-32 |
SMART |
|
ZnF_C2H2
|
81 |
103 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
109 |
131 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
137 |
159 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
193 |
215 |
2.17e1 |
SMART |
|
ZnF_C2H2
|
221 |
243 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
249 |
271 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
277 |
299 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
305 |
327 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
333 |
355 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
361 |
383 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
389 |
411 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
417 |
439 |
3.52e-1 |
SMART |
|
ZnF_C2H2
|
445 |
467 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
473 |
495 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
501 |
523 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
529 |
551 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
557 |
579 |
2.05e-2 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
641 |
663 |
1.76e-1 |
SMART |
|
ZnF_C2H2
|
669 |
691 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
697 |
719 |
5.14e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223990
AA Change: C111S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225772
AA Change: C111S
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010007H06Rik |
T |
C |
9: 51,191,801 (GRCm39) |
|
probably benign |
Het |
| 6030468B19Rik |
T |
A |
11: 117,689,244 (GRCm39) |
|
probably benign |
Het |
| Ankra2 |
G |
A |
13: 98,409,882 (GRCm39) |
|
probably benign |
Het |
| Astn1 |
C |
A |
1: 158,436,911 (GRCm39) |
A823E |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,740,362 (GRCm39) |
|
probably benign |
Het |
| Clec4b2 |
T |
A |
6: 123,181,156 (GRCm39) |
N180K |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,813,143 (GRCm39) |
|
probably benign |
Het |
| Dhrs7c |
T |
C |
11: 67,706,693 (GRCm39) |
F284L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,678,860 (GRCm39) |
|
probably benign |
Het |
| Entpd5 |
A |
T |
12: 84,433,752 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,139,020 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
A |
G |
6: 71,577,101 (GRCm39) |
V738A |
probably damaging |
Het |
| Klf10 |
A |
T |
15: 38,297,085 (GRCm39) |
F318L |
probably damaging |
Het |
| Mcc |
A |
C |
18: 44,582,366 (GRCm39) |
I770S |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,778,292 (GRCm39) |
|
noncoding transcript |
Het |
| Or9a4 |
A |
T |
6: 40,548,317 (GRCm39) |
|
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,635 (GRCm39) |
T1038A |
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,248,660 (GRCm39) |
|
probably benign |
Het |
| Polr2c |
A |
G |
8: 95,584,394 (GRCm39) |
R36G |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,979,430 (GRCm39) |
|
probably null |
Het |
| Scart1 |
A |
T |
7: 139,803,399 (GRCm39) |
H321L |
probably benign |
Het |
| Taf5 |
A |
G |
19: 47,070,917 (GRCm39) |
D747G |
probably damaging |
Het |
| Tll1 |
T |
G |
8: 64,507,001 (GRCm39) |
K580T |
possibly damaging |
Het |
| Tmc3 |
A |
T |
7: 83,269,203 (GRCm39) |
N768I |
possibly damaging |
Het |
| Top1 |
G |
T |
2: 160,546,893 (GRCm39) |
|
probably null |
Het |
| Ubtf |
T |
C |
11: 102,204,994 (GRCm39) |
K97E |
probably damaging |
Het |
| Vcl |
T |
C |
14: 21,057,355 (GRCm39) |
V509A |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,804,062 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,364,712 (GRCm39) |
V565A |
possibly damaging |
Het |
|
| Other mutations in Zfp458 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01672:Zfp458
|
APN |
13 |
67,405,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01989:Zfp458
|
APN |
13 |
67,407,691 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02620:Zfp458
|
APN |
13 |
67,406,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Zfp458
|
UTSW |
13 |
67,406,154 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0014:Zfp458
|
UTSW |
13 |
67,406,154 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0025:Zfp458
|
UTSW |
13 |
67,405,962 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0066:Zfp458
|
UTSW |
13 |
67,407,673 (GRCm39) |
nonsense |
probably null |
|
|
R0257:Zfp458
|
UTSW |
13 |
67,407,706 (GRCm39) |
nonsense |
probably null |
|
|
R1218:Zfp458
|
UTSW |
13 |
67,404,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1292:Zfp458
|
UTSW |
13 |
67,404,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1490:Zfp458
|
UTSW |
13 |
67,405,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1664:Zfp458
|
UTSW |
13 |
67,406,144 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2169:Zfp458
|
UTSW |
13 |
67,405,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Zfp458
|
UTSW |
13 |
67,405,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5305:Zfp458
|
UTSW |
13 |
67,404,382 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5364:Zfp458
|
UTSW |
13 |
67,406,012 (GRCm39) |
nonsense |
probably null |
|
|
R5426:Zfp458
|
UTSW |
13 |
67,405,256 (GRCm39) |
nonsense |
probably null |
|
|
R5760:Zfp458
|
UTSW |
13 |
67,405,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Zfp458
|
UTSW |
13 |
67,405,662 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6186:Zfp458
|
UTSW |
13 |
67,405,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6298:Zfp458
|
UTSW |
13 |
67,404,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7368:Zfp458
|
UTSW |
13 |
67,405,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7483:Zfp458
|
UTSW |
13 |
67,404,978 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7711:Zfp458
|
UTSW |
13 |
67,407,664 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7921:Zfp458
|
UTSW |
13 |
67,404,180 (GRCm39) |
makesense |
probably null |
|
|
R7993:Zfp458
|
UTSW |
13 |
67,405,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8240:Zfp458
|
UTSW |
13 |
67,406,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8429:Zfp458
|
UTSW |
13 |
67,406,152 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9084:Zfp458
|
UTSW |
13 |
67,407,633 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9099:Zfp458
|
UTSW |
13 |
67,405,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9217:Zfp458
|
UTSW |
13 |
67,408,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9249:Zfp458
|
UTSW |
13 |
67,405,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Zfp458
|
UTSW |
13 |
67,408,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation