Incidental Mutation 'R6570:Zscan4d'
| ID |
526210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zscan4d
|
| Ensembl Gene |
ENSMUSG00000090714 |
| Gene Name |
zinc finger and SCAN domain containing 4D |
| Synonyms |
EG545913 |
| MMRRC Submission |
044694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R6570 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
10895570-10900075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10895927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 481
(V481A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067210]
|
| AlphaFold |
A7KBS4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067210
AA Change: V481A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: V481A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCAN
|
39 |
126 |
2.5e-19 |
PFAM |
|
low complexity region
|
181 |
197 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
395 |
417 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
424 |
446 |
7.68e0 |
SMART |
|
ZnF_C2H2
|
452 |
474 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
480 |
503 |
3.83e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdh15 |
T |
C |
8: 123,584,130 (GRCm39) |
V77A |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,651,820 (GRCm39) |
V3077I |
unknown |
Het |
| Erbb2 |
T |
C |
11: 98,313,873 (GRCm39) |
L272P |
possibly damaging |
Het |
| Exd1 |
T |
C |
2: 119,350,654 (GRCm39) |
T536A |
probably benign |
Het |
| Hoxc9 |
A |
T |
15: 102,890,185 (GRCm39) |
H34L |
probably benign |
Het |
| Kif19a |
G |
T |
11: 114,675,731 (GRCm39) |
R401L |
possibly damaging |
Het |
| Mad2l1bp |
A |
T |
17: 46,463,933 (GRCm39) |
H30Q |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,371,855 (GRCm39) |
L26P |
probably damaging |
Het |
| Mmp16 |
G |
A |
4: 18,011,501 (GRCm39) |
V110I |
possibly damaging |
Het |
| Or2m13 |
T |
C |
16: 19,226,068 (GRCm39) |
S233G |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,824,906 (GRCm39) |
A863V |
probably benign |
Het |
| Rnf168 |
G |
A |
16: 32,108,028 (GRCm39) |
S219N |
probably benign |
Het |
| Serpine3 |
T |
A |
14: 62,911,770 (GRCm39) |
L244Q |
probably damaging |
Het |
| Vmn1r75 |
T |
C |
7: 11,614,883 (GRCm39) |
V205A |
probably damaging |
Het |
|
| Other mutations in Zscan4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Zscan4d
|
APN |
7 |
10,896,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01576:Zscan4d
|
APN |
7 |
10,896,519 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01926:Zscan4d
|
APN |
7 |
10,898,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02008:Zscan4d
|
APN |
7 |
10,896,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02245:Zscan4d
|
APN |
7 |
10,896,716 (GRCm39) |
missense |
probably benign |
|
|
IGL02473:Zscan4d
|
APN |
7 |
10,896,336 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02805:Zscan4d
|
APN |
7 |
10,898,897 (GRCm39) |
splice site |
probably benign |
|
|
IGL03010:Zscan4d
|
APN |
7 |
10,897,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03383:Zscan4d
|
APN |
7 |
10,896,692 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0626:Zscan4d
|
UTSW |
7 |
10,898,946 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1084:Zscan4d
|
UTSW |
7 |
10,898,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1457:Zscan4d
|
UTSW |
7 |
10,898,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2426:Zscan4d
|
UTSW |
7 |
10,899,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2912:Zscan4d
|
UTSW |
7 |
10,896,614 (GRCm39) |
missense |
probably benign |
|
|
R3736:Zscan4d
|
UTSW |
7 |
10,896,803 (GRCm39) |
missense |
probably benign |
|
|
R4379:Zscan4d
|
UTSW |
7 |
10,898,905 (GRCm39) |
missense |
probably benign |
|
|
R4580:Zscan4d
|
UTSW |
7 |
10,896,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4765:Zscan4d
|
UTSW |
7 |
10,896,594 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4975:Zscan4d
|
UTSW |
7 |
10,899,274 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R6452:Zscan4d
|
UTSW |
7 |
10,895,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6680:Zscan4d
|
UTSW |
7 |
10,896,366 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7726:Zscan4d
|
UTSW |
7 |
10,899,169 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7772:Zscan4d
|
UTSW |
7 |
10,896,770 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8282:Zscan4d
|
UTSW |
7 |
10,896,369 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8320:Zscan4d
|
UTSW |
7 |
10,799,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9671:Zscan4d
|
UTSW |
7 |
10,898,945 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9770:Zscan4d
|
UTSW |
7 |
10,896,036 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGACAGTACAATTTACTTGCAAC -3'
(R):5'- AAACATGCCAGGAGCCTTTCG -3'
Sequencing Primer
(F):5'- GCAACATTCTTCTCTCTTTGAAGATG -3'
(R):5'- AGAAGAGTGAATTGCTTTGTGTCACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation