Incidental Mutation 'IGL00518:Zscan4d'
| ID |
5330 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zscan4d
|
| Ensembl Gene |
ENSMUSG00000090714 |
| Gene Name |
zinc finger and SCAN domain containing 4D |
| Synonyms |
EG545913 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
IGL00518
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
10895570-10900075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10896281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 363
(E363G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131258
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067210]
[ENSMUST00000165848]
|
| AlphaFold |
A7KBS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067210
AA Change: E363G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: E363G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165848
AA Change: E363G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: E363G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCAN
|
43 |
122 |
1.3e-17 |
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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
C |
1: 63,610,113 (GRCm39) |
V705A |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,320,536 (GRCm39) |
L905F |
probably damaging |
Het |
| Copb2 |
A |
T |
9: 98,464,947 (GRCm39) |
K627N |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,928,828 (GRCm39) |
C782R |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,026,401 (GRCm39) |
|
probably null |
Het |
| Esyt1 |
C |
T |
10: 128,357,743 (GRCm39) |
D243N |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,823,272 (GRCm39) |
|
probably benign |
Het |
| Klk1b4 |
T |
C |
7: 43,860,456 (GRCm39) |
|
probably benign |
Het |
| Lce1i |
T |
A |
3: 92,684,911 (GRCm39) |
R88S |
unknown |
Het |
| Lrrc37a |
G |
T |
11: 103,391,177 (GRCm39) |
P1416Q |
probably benign |
Het |
| Mcm6 |
C |
A |
1: 128,272,120 (GRCm39) |
A426S |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,393,244 (GRCm39) |
V3106I |
probably damaging |
Het |
| Nkiras1 |
T |
G |
14: 18,278,435 (GRCm38) |
F50V |
probably benign |
Het |
| Pik3r6 |
A |
T |
11: 68,425,077 (GRCm39) |
I457F |
probably damaging |
Het |
| Rbck1 |
T |
C |
2: 152,160,315 (GRCm39) |
K455E |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,848,978 (GRCm39) |
|
probably benign |
Het |
| Serpinb9b |
T |
A |
13: 33,223,553 (GRCm39) |
F248L |
probably benign |
Het |
| Sox6 |
C |
A |
7: 115,076,441 (GRCm39) |
M733I |
probably benign |
Het |
| Supt20 |
T |
C |
3: 54,622,590 (GRCm39) |
S446P |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,487,416 (GRCm39) |
M530T |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,909,647 (GRCm39) |
Y150* |
probably null |
Het |
| Trmt9b |
C |
T |
8: 36,979,453 (GRCm39) |
T352I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,733,726 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
A |
G |
17: 47,303,922 (GRCm39) |
Y138H |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,542,587 (GRCm39) |
|
probably benign |
Het |
| Zfp354a |
T |
A |
11: 50,961,381 (GRCm39) |
S531T |
probably damaging |
Het |
|
| Other mutations in Zscan4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation