Incidental Mutation 'R6680:Zscan4d'
ID |
527449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zscan4d
|
Ensembl Gene |
ENSMUSG00000090714 |
Gene Name |
zinc finger and SCAN domain containing 4D |
Synonyms |
EG545913 |
MMRRC Submission |
044799-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
R6680 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
10895570-10900075 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 10896366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 335
(S335T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066504
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067210]
|
AlphaFold |
A7KBS4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067210
AA Change: S335T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000066504 Gene: ENSMUSG00000090714 AA Change: S335T
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
A |
G |
17: 56,098,959 (GRCm39) |
K155R |
probably benign |
Het |
Ankrd31 |
T |
A |
13: 96,967,117 (GRCm39) |
|
probably null |
Het |
AW011738 |
A |
G |
4: 156,288,182 (GRCm39) |
|
probably benign |
Het |
Btnl12 |
T |
C |
16: 37,676,536 (GRCm39) |
D77G |
probably benign |
Het |
Ccl3 |
A |
G |
11: 83,539,132 (GRCm39) |
S76P |
probably benign |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Dnaaf10 |
T |
C |
11: 17,179,857 (GRCm39) |
L286P |
probably damaging |
Het |
Fat2 |
G |
T |
11: 55,201,684 (GRCm39) |
Y463* |
probably null |
Het |
Frem3 |
A |
G |
8: 81,395,949 (GRCm39) |
T1915A |
probably damaging |
Het |
Hspg2 |
A |
G |
4: 137,293,048 (GRCm39) |
Q4162R |
probably benign |
Het |
Krt87 |
C |
T |
15: 101,331,859 (GRCm39) |
R293H |
probably damaging |
Het |
Mipep |
A |
G |
14: 61,025,672 (GRCm39) |
I143V |
possibly damaging |
Het |
Mrc2 |
C |
T |
11: 105,216,579 (GRCm39) |
R123C |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Ndc80 |
T |
C |
17: 71,824,540 (GRCm39) |
K223R |
probably null |
Het |
Nudt16l2 |
A |
G |
9: 105,020,773 (GRCm39) |
S163P |
probably damaging |
Het |
Nuf2 |
A |
C |
1: 169,342,578 (GRCm39) |
|
probably null |
Het |
Omd |
T |
C |
13: 49,743,004 (GRCm39) |
V18A |
possibly damaging |
Het |
Or51a39 |
T |
A |
7: 102,363,522 (GRCm39) |
I33F |
possibly damaging |
Het |
Or8g21 |
T |
C |
9: 38,905,954 (GRCm39) |
Y259C |
probably damaging |
Het |
Or8k53 |
T |
A |
2: 86,177,589 (GRCm39) |
I174F |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,974,603 (GRCm39) |
S1384G |
probably damaging |
Het |
Slc22a28 |
A |
G |
19: 8,078,757 (GRCm39) |
S311P |
probably benign |
Het |
Sox6 |
C |
T |
7: 115,076,218 (GRCm39) |
E765K |
possibly damaging |
Het |
Tas2r106 |
A |
T |
6: 131,655,437 (GRCm39) |
I138K |
probably damaging |
Het |
Tbx15 |
T |
A |
3: 99,220,389 (GRCm39) |
Y54* |
probably null |
Het |
Tulp4 |
T |
G |
17: 6,189,312 (GRCm39) |
W45G |
probably damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,370,154 (GRCm39) |
Y433H |
probably damaging |
Het |
Usp13 |
T |
C |
3: 32,935,618 (GRCm39) |
V348A |
probably damaging |
Het |
Vezf1 |
T |
C |
11: 87,972,410 (GRCm39) |
I439T |
probably benign |
Het |
Vmn2r93 |
C |
A |
17: 18,536,920 (GRCm39) |
Y534* |
probably null |
Het |
Zfp579 |
A |
G |
7: 4,996,501 (GRCm39) |
L470P |
probably damaging |
Het |
Zfp598 |
A |
G |
17: 24,897,660 (GRCm39) |
N327S |
probably benign |
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 |
R6570:Zscan4d
|
UTSW |
7 |
10,895,927 (GRCm39) |
missense |
possibly damaging |
0.92 |
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'- AAGGCTCCTGGCATGTTTG -3'
(R):5'- TTGCTATAACACTTCCAGGAATGC -3'
Sequencing Primer
(F):5'- CCTGGCATGTTTGAACATCCTAGAAC -3'
(R):5'- TTCCAGGAATGCAGCTACTC -3'
|
Posted On |
2018-07-23 |