Incidental Mutation 'R6559:Zscan4-ps3'
ID |
521941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan4-ps3
|
Ensembl Gene |
ENSMUSG00000109969 |
Gene Name |
zinc finger and SCAN domain containing 4, pseudogene 3 |
Synonyms |
|
MMRRC Submission |
044683-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R6559 (G1)
|
Quality Score |
163.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
11343235-11348039 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11344339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 99
(E99G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000210559]
|
AlphaFold |
A0A1B0GRH6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210559
AA Change: E99G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522H14Rik |
C |
T |
4: 109,363,002 (GRCm39) |
V106I |
possibly damaging |
Het |
Actn4 |
T |
C |
7: 28,606,461 (GRCm39) |
K284R |
possibly damaging |
Het |
Adam20 |
G |
C |
8: 41,249,329 (GRCm39) |
E480Q |
probably benign |
Het |
Cdkl3 |
A |
G |
11: 51,916,696 (GRCm39) |
T275A |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,139,501 (GRCm39) |
I1378T |
possibly damaging |
Het |
Fam186a |
A |
G |
15: 99,842,356 (GRCm39) |
I1296T |
possibly damaging |
Het |
Fbf1 |
G |
A |
11: 116,046,272 (GRCm39) |
T193M |
probably benign |
Het |
Fcrl1 |
A |
G |
3: 87,298,560 (GRCm39) |
I352V |
probably benign |
Het |
Ifit3 |
T |
C |
19: 34,564,514 (GRCm39) |
F20S |
probably damaging |
Het |
Klhl3 |
G |
A |
13: 58,164,290 (GRCm39) |
R431W |
probably damaging |
Het |
Lipi |
A |
G |
16: 75,337,982 (GRCm39) |
V464A |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,490,217 (GRCm39) |
I120M |
probably damaging |
Het |
Mst1r |
A |
G |
9: 107,785,470 (GRCm39) |
N376S |
possibly damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Ncoa2 |
G |
A |
1: 13,220,841 (GRCm39) |
|
probably null |
Het |
Odad2 |
T |
C |
18: 7,223,664 (GRCm39) |
T460A |
probably damaging |
Het |
Or6c215 |
A |
T |
10: 129,637,533 (GRCm39) |
I287N |
probably damaging |
Het |
Or8c10 |
A |
G |
9: 38,279,052 (GRCm39) |
Y60C |
probably damaging |
Het |
Teddm1a |
A |
T |
1: 153,768,111 (GRCm39) |
I192F |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,882,996 (GRCm39) |
S190P |
probably damaging |
Het |
Ttc3 |
T |
C |
16: 94,223,208 (GRCm39) |
|
probably null |
Het |
Zfp112 |
C |
T |
7: 23,825,888 (GRCm39) |
Q619* |
probably null |
Het |
|
Other mutations in Zscan4-ps3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4618001:Zscan4-ps3
|
UTSW |
7 |
11,347,261 (GRCm39) |
missense |
probably benign |
|
R6020:Zscan4-ps3
|
UTSW |
7 |
11,344,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R6818:Zscan4-ps3
|
UTSW |
7 |
11,346,986 (GRCm39) |
missense |
probably damaging |
0.99 |
R7437:Zscan4-ps3
|
UTSW |
7 |
11,346,863 (GRCm39) |
missense |
probably benign |
|
R8040:Zscan4-ps3
|
UTSW |
7 |
11,346,600 (GRCm39) |
missense |
probably damaging |
0.97 |
R8089:Zscan4-ps3
|
UTSW |
7 |
11,346,659 (GRCm39) |
missense |
probably benign |
0.00 |
R8119:Zscan4-ps3
|
UTSW |
7 |
11,344,267 (GRCm39) |
missense |
probably damaging |
0.99 |
R8391:Zscan4-ps3
|
UTSW |
7 |
11,346,801 (GRCm39) |
missense |
probably benign |
|
R8546:Zscan4-ps3
|
UTSW |
7 |
11,346,697 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8789:Zscan4-ps3
|
UTSW |
7 |
11,346,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R8897:Zscan4-ps3
|
UTSW |
7 |
11,346,767 (GRCm39) |
nonsense |
probably null |
|
R8970:Zscan4-ps3
|
UTSW |
7 |
11,344,414 (GRCm39) |
missense |
probably benign |
|
R9040:Zscan4-ps3
|
UTSW |
7 |
11,346,638 (GRCm39) |
missense |
probably benign |
0.08 |
R9156:Zscan4-ps3
|
UTSW |
7 |
11,347,164 (GRCm39) |
missense |
probably damaging |
0.99 |
R9246:Zscan4-ps3
|
UTSW |
7 |
11,346,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R9325:Zscan4-ps3
|
UTSW |
7 |
11,344,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R9776:Zscan4-ps3
|
UTSW |
7 |
11,344,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGTAACAATGGCTGCTG -3'
(R):5'- AGACTTAGTTGTGCATGTCAAACC -3'
Sequencing Primer
(F):5'- TGGGCAACTCAGGAGCTG -3'
(R):5'- GTTGTGCATGTCAAACCTAATTG -3'
|
Posted On |
2018-06-06 |