Incidental Mutation 'R2169:Zfp458'
| ID |
235681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp458
|
| Ensembl Gene |
ENSMUSG00000055480 |
| Gene Name |
zinc finger protein 458 |
| Synonyms |
Rslcan-7 |
| MMRRC Submission |
040172-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2169 (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 67405113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 439
(E439G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045969]
[ENSMUST00000223990]
[ENSMUST00000225772]
|
| AlphaFold |
Q6P5C7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045969
AA Change: E442G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047222
Gene: ENSMUSG00000055480
AA Change: E442G
| 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: E439G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,622,349 (GRCm39) |
T606A |
probably benign |
Het |
| Adtrp |
T |
A |
13: 41,920,905 (GRCm39) |
S221C |
possibly damaging |
Het |
| Ap1g2 |
T |
A |
14: 55,336,797 (GRCm39) |
|
probably null |
Het |
| Arhgef5 |
A |
T |
6: 43,251,354 (GRCm39) |
M702L |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,245,879 (GRCm39) |
V34A |
probably damaging |
Het |
| Ccdc154 |
T |
A |
17: 25,389,897 (GRCm39) |
V509E |
probably damaging |
Het |
| Cttnbp2 |
C |
T |
6: 18,426,096 (GRCm39) |
D761N |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,486,138 (GRCm39) |
|
probably null |
Het |
| Dipk1a |
A |
T |
5: 108,057,325 (GRCm39) |
L411* |
probably null |
Het |
| Fam241b |
A |
T |
10: 61,945,745 (GRCm39) |
I4N |
probably damaging |
Het |
| Gm5800 |
T |
C |
14: 51,951,135 (GRCm39) |
K155E |
possibly damaging |
Het |
| Hemgn |
T |
A |
4: 46,396,417 (GRCm39) |
H273L |
possibly damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,659,168 (GRCm39) |
V543A |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,299 (GRCm39) |
K113E |
probably benign |
Het |
| Hspb2 |
A |
G |
9: 50,663,015 (GRCm39) |
I38T |
probably damaging |
Het |
| Htt |
A |
T |
5: 35,034,819 (GRCm39) |
E2021D |
probably benign |
Het |
| Lrpprc |
C |
T |
17: 85,077,505 (GRCm39) |
R394Q |
probably benign |
Het |
| Lrrc8b |
T |
C |
5: 105,629,753 (GRCm39) |
Y700H |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,528,752 (GRCm39) |
V593A |
probably benign |
Het |
| Mrgprh |
C |
T |
17: 13,095,856 (GRCm39) |
T32M |
probably benign |
Het |
| Mrpl18 |
A |
G |
17: 13,132,655 (GRCm39) |
|
probably null |
Het |
| Muc1 |
A |
G |
3: 89,138,903 (GRCm39) |
E504G |
probably damaging |
Het |
| Ndufa13 |
G |
A |
8: 70,347,169 (GRCm39) |
A77V |
probably damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,654 (GRCm39) |
F238L |
possibly damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,111,363 (GRCm39) |
|
probably null |
Het |
| Pgm5 |
T |
A |
19: 24,812,179 (GRCm39) |
I118F |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,704,572 (GRCm39) |
F264L |
possibly damaging |
Het |
| Polr3e |
C |
T |
7: 120,531,360 (GRCm39) |
R176W |
probably damaging |
Het |
| Prkacb |
C |
T |
3: 146,452,438 (GRCm39) |
|
probably null |
Het |
| Rab19 |
T |
G |
6: 39,360,975 (GRCm39) |
V41G |
possibly damaging |
Het |
| Rapgef5 |
A |
G |
12: 117,679,130 (GRCm39) |
Y234C |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,018,863 (GRCm39) |
T659A |
probably damaging |
Het |
| Slc6a2 |
G |
A |
8: 93,720,729 (GRCm39) |
V449I |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,723,726 (GRCm39) |
S1490P |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,548,005 (GRCm39) |
T713A |
probably damaging |
Het |
| Tmc6 |
A |
T |
11: 117,659,932 (GRCm39) |
L732Q |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,905 (GRCm39) |
K229* |
probably null |
Het |
| Xylt1 |
G |
A |
7: 117,266,660 (GRCm39) |
G893R |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,907 (GRCm39) |
S69T |
probably damaging |
Het |
| Zfp114 |
C |
T |
7: 23,880,509 (GRCm39) |
T285I |
probably benign |
Het |
| Zfp65 |
G |
A |
13: 67,858,499 (GRCm39) |
T55I |
probably damaging |
Het |
| Zmym1 |
C |
T |
4: 126,947,996 (GRCm39) |
|
probably null |
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 |
|
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'- ACATACTTCACACTTGTAGGGTTTT -3'
(R):5'- TGTGAAGTATGTGGCAAGGC -3'
Sequencing Primer
(F):5'- TGCCACATACTTCACACTTGTAAGG -3'
(R):5'- GGCAAGGCCTTCTATTATCTATCC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation