Incidental Mutation 'R3769:Zfp458'
| ID |
273185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp458
|
| Ensembl Gene |
ENSMUSG00000055480 |
| Gene Name |
zinc finger protein 458 |
| Synonyms |
Rslcan-7 |
| MMRRC Submission |
040746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67402982-67426530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67405546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 298
(I298F)
|
| 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: I298F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: I298F
| 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 benign
Transcript: ENSMUST00000223990
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225772
AA Change: I295F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.2460 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
98% (47/48) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
| Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Ccer1 |
G |
A |
10: 97,530,414 (GRCm39) |
G359E |
probably damaging |
Het |
| Cdkal1 |
T |
C |
13: 29,736,386 (GRCm39) |
|
probably null |
Het |
| Celf1 |
T |
C |
2: 90,828,993 (GRCm39) |
V20A |
probably damaging |
Het |
| Cep350 |
G |
A |
1: 155,828,950 (GRCm39) |
T318I |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,267,396 (GRCm39) |
D159G |
probably damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,513 (GRCm39) |
D369V |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,233,201 (GRCm39) |
I629K |
possibly damaging |
Het |
| Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
| Ddx3x |
T |
C |
X: 13,156,808 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,276,868 (GRCm39) |
|
probably null |
Het |
| Fgf10 |
G |
T |
13: 118,918,083 (GRCm39) |
V124F |
probably damaging |
Het |
| Gm6356 |
C |
A |
14: 6,971,774 (GRCm38) |
M120I |
probably benign |
Het |
| Gm7964 |
T |
A |
7: 83,405,338 (GRCm39) |
V76D |
probably damaging |
Het |
| Gm826 |
A |
G |
2: 160,169,165 (GRCm39) |
V48A |
unknown |
Het |
| Hoxb5 |
A |
G |
11: 96,194,795 (GRCm39) |
D119G |
possibly damaging |
Het |
| Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,385,802 (GRCm39) |
V255A |
possibly damaging |
Het |
| Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
| Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,320,457 (GRCm39) |
V32A |
probably damaging |
Het |
| Pex6 |
G |
T |
17: 47,035,311 (GRCm39) |
|
probably null |
Het |
| Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
| Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
| Polr2c |
G |
A |
8: 95,586,928 (GRCm39) |
A65T |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
| Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
| Scn5a |
G |
A |
9: 119,381,142 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
A |
G |
10: 58,820,013 (GRCm39) |
T275A |
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,245,714 (GRCm39) |
I155N |
possibly damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,785,357 (GRCm39) |
Y78H |
probably damaging |
Het |
| Snx15 |
T |
A |
19: 6,173,984 (GRCm39) |
|
probably benign |
Het |
| Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,375,750 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,092,766 (GRCm39) |
V157A |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,000 (GRCm39) |
Y446C |
probably damaging |
Het |
| Vps51 |
T |
C |
19: 6,126,378 (GRCm39) |
T125A |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,927,532 (GRCm39) |
H20R |
probably benign |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACATACTTCACACTTGTATGG -3'
(R):5'- GGCAAGACCTTACATTGTCCATC -3'
Sequencing Primer
(F):5'- ACTTGTATGGTTTCTCTCCTGTATG -3'
(R):5'- ACCCTACCAGTGTGAAGACTTGG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation