Incidental Mutation 'IGL02620:Zfp458'
| ID |
300822 |
| 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 # |
IGL02620
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67402982-67426530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67406058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 127
(H127L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045969]
[ENSMUST00000223990]
[ENSMUST00000225772]
|
| AlphaFold |
Q6P5C7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045969
AA Change: H127L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: H127L
| 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: H124L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225772
AA Change: H124L
PolyPhen 2
Score 0.337 (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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,231,943 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
T |
C |
3: 37,090,094 (GRCm39) |
V4174A |
possibly damaging |
Het |
| Ccdc150 |
T |
A |
1: 54,302,704 (GRCm39) |
L108* |
probably null |
Het |
| Cdon |
C |
T |
9: 35,364,095 (GRCm39) |
T71I |
probably benign |
Het |
| Chdh |
T |
C |
14: 29,753,096 (GRCm39) |
W2R |
probably damaging |
Het |
| Ckap5 |
T |
G |
2: 91,436,714 (GRCm39) |
L1605V |
probably benign |
Het |
| Cluh |
C |
T |
11: 74,555,893 (GRCm39) |
Q819* |
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cwc27 |
C |
A |
13: 104,938,714 (GRCm39) |
|
probably benign |
Het |
| Elk4 |
C |
A |
1: 131,946,109 (GRCm39) |
A329D |
probably benign |
Het |
| Fbxo40 |
T |
C |
16: 36,786,442 (GRCm39) |
H709R |
probably benign |
Het |
| Flna |
A |
G |
X: 73,273,582 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
G |
T |
6: 91,755,587 (GRCm39) |
D592E |
possibly damaging |
Het |
| H2-T24 |
T |
G |
17: 36,328,183 (GRCm39) |
N100T |
probably damaging |
Het |
| Hepacam2 |
C |
A |
6: 3,487,280 (GRCm39) |
|
probably benign |
Het |
| Ighv2-2 |
T |
A |
12: 113,551,912 (GRCm39) |
T109S |
possibly damaging |
Het |
| Ipo11 |
T |
C |
13: 107,012,789 (GRCm39) |
|
probably null |
Het |
| Kcnh8 |
T |
C |
17: 53,205,525 (GRCm39) |
M540T |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,836,582 (GRCm39) |
S82P |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,939,476 (GRCm39) |
Y20C |
probably benign |
Het |
| Milr1 |
C |
A |
11: 106,645,744 (GRCm39) |
S95R |
probably damaging |
Het |
| Mtnr1b |
A |
C |
9: 15,785,617 (GRCm39) |
V47G |
possibly damaging |
Het |
| Nme1nme2 |
G |
T |
11: 93,843,682 (GRCm39) |
R173S |
possibly damaging |
Het |
| Or6a2 |
T |
A |
7: 106,600,825 (GRCm39) |
K81* |
probably null |
Het |
| Phactr2 |
T |
C |
10: 13,167,632 (GRCm39) |
R100G |
probably damaging |
Het |
| Potefam1 |
C |
T |
2: 111,041,970 (GRCm39) |
V322I |
probably benign |
Het |
| Ppargc1b |
A |
G |
18: 61,431,810 (GRCm39) |
Y997H |
probably damaging |
Het |
| Pramel3a |
A |
G |
X: 134,211,158 (GRCm39) |
M397V |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,959,739 (GRCm39) |
K79E |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,219,863 (GRCm39) |
S109P |
probably damaging |
Het |
| Raf1 |
A |
T |
6: 115,609,848 (GRCm39) |
|
probably benign |
Het |
| Rptor |
T |
C |
11: 119,671,413 (GRCm39) |
L292P |
probably benign |
Het |
| Slc25a45 |
A |
G |
19: 5,934,554 (GRCm39) |
D174G |
probably damaging |
Het |
| Tbcd |
C |
T |
11: 121,352,081 (GRCm39) |
T146M |
probably 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 |
|
IGL02168:Zfp458
|
APN |
13 |
67,406,098 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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