Incidental Mutation 'R1218:Zfp458'
| ID |
99852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp458
|
| Ensembl Gene |
ENSMUSG00000055480 |
| Gene Name |
zinc finger protein 458 |
| Synonyms |
Rslcan-7 |
| MMRRC Submission |
039287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1218 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67402982-67426530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67404273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 722
(E722G)
|
| 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: E722G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: E722G
| 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 |
possibly damaging
Transcript: ENSMUST00000225772
AA Change: E719G
PolyPhen 2
Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 97.9%
- 10x: 93.3%
- 20x: 80.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
C |
T |
15: 81,948,353 (GRCm39) |
T750I |
probably benign |
Het |
| 5330417H12Rik |
T |
C |
7: 107,224,024 (GRCm39) |
|
probably benign |
Het |
| 9230109A22Rik |
C |
T |
15: 25,139,024 (GRCm39) |
|
noncoding transcript |
Het |
| Ahnak |
A |
G |
19: 8,992,983 (GRCm39) |
K4756E |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,220,169 (GRCm39) |
|
probably null |
Het |
| Bmp6 |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
13: 38,530,226 (GRCm39) |
|
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cbfa2t2 |
A |
T |
2: 154,365,839 (GRCm39) |
M350L |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,710,022 (GRCm39) |
M349L |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,118,495 (GRCm39) |
V768A |
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,945,574 (GRCm39) |
G33C |
probably damaging |
Het |
| Dhx40 |
A |
G |
11: 86,690,310 (GRCm39) |
V237A |
probably benign |
Het |
| Dlst |
G |
T |
12: 85,170,638 (GRCm39) |
D256Y |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,026,678 (GRCm39) |
S1929T |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,654,858 (GRCm39) |
I551N |
probably damaging |
Het |
| Faap100 |
T |
C |
11: 120,269,166 (GRCm39) |
D91G |
probably benign |
Het |
| Fbn1 |
T |
G |
2: 125,254,669 (GRCm39) |
Q198P |
possibly damaging |
Het |
| Flrt2 |
A |
G |
12: 95,745,727 (GRCm39) |
I22V |
probably benign |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| H2bc3 |
A |
G |
13: 23,931,142 (GRCm39) |
Y122C |
probably benign |
Het |
| Inava |
A |
T |
1: 136,142,140 (GRCm39) |
V653E |
probably damaging |
Het |
| Kcnn1 |
T |
C |
8: 71,305,332 (GRCm39) |
I293V |
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Mcpt9 |
G |
T |
14: 56,266,125 (GRCm39) |
Y34* |
probably null |
Het |
| Mepe |
A |
T |
5: 104,474,939 (GRCm39) |
M7L |
probably benign |
Het |
| Mprip |
A |
G |
11: 59,634,640 (GRCm39) |
Y383C |
probably damaging |
Het |
| Mtrex |
G |
A |
13: 113,054,156 (GRCm39) |
A159V |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,083,351 (GRCm39) |
D1438V |
probably damaging |
Het |
| Napb |
T |
C |
2: 148,542,345 (GRCm39) |
Y205C |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,854,693 (GRCm39) |
D510G |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,351 (GRCm39) |
D162G |
probably damaging |
Het |
| Oscp1 |
T |
C |
4: 125,952,532 (GRCm39) |
V20A |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,214 (GRCm39) |
L430P |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,849,808 (GRCm39) |
D354G |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,522,256 (GRCm39) |
V481F |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,785,534 (GRCm39) |
I1719T |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,480,021 (GRCm39) |
H400R |
probably benign |
Het |
| Snx33 |
A |
G |
9: 56,833,269 (GRCm39) |
Y267H |
probably damaging |
Het |
| Sstr1 |
T |
A |
12: 58,260,406 (GRCm39) |
M343K |
possibly damaging |
Het |
| Stx6 |
T |
C |
1: 155,077,737 (GRCm39) |
V248A |
probably benign |
Het |
| Tbx5 |
C |
T |
5: 119,976,785 (GRCm39) |
L58F |
probably damaging |
Het |
| Tmem241 |
A |
G |
18: 12,197,271 (GRCm39) |
Y186H |
probably damaging |
Het |
| Tnfaip8l3 |
T |
C |
9: 53,934,760 (GRCm39) |
K72E |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,753,219 (GRCm39) |
I1848N |
probably damaging |
Het |
| Xrcc6 |
G |
A |
15: 81,907,142 (GRCm39) |
V155I |
probably benign |
Het |
| Zfyve1 |
G |
T |
12: 83,594,825 (GRCm39) |
H722Q |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCCAGGCTACATGCTTCATAC -3'
(R):5'- AGCAAGTGGAAAGACCCTTGATTATCC -3'
Sequencing Primer
(F):5'- gccttgccacattcttcac -3'
(R):5'- agagaattcatattggagaaaaaccc -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation