Incidental Mutation 'IGL01576:Zscan4d'
| ID |
91248 |
| 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: 0.123)
|
| Stock # |
IGL01576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
10895570-10900075 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10896519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 284
(N284D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067210]
[ENSMUST00000165848]
|
| AlphaFold |
A7KBS4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067210
AA Change: N284D
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066504
Gene: ENSMUSG00000090714
AA Change: N284D
| 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: N284D
PolyPhen 2
Score 0.040 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131258
Gene: ENSMUSG00000110103
AA Change: N284D
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,531,293 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,816,121 (GRCm39) |
E541G |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,962 (GRCm39) |
D571V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,984,365 (GRCm39) |
N4459S |
possibly damaging |
Het |
| Brsk2 |
T |
C |
7: 141,535,292 (GRCm39) |
I38T |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,258,602 (GRCm39) |
R563* |
probably null |
Het |
| Car7 |
T |
A |
8: 105,276,180 (GRCm39) |
|
probably null |
Het |
| Chml |
T |
C |
1: 175,515,271 (GRCm39) |
T217A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,307,813 (GRCm39) |
N3042K |
probably damaging |
Het |
| Efcab2 |
T |
G |
1: 178,264,957 (GRCm39) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,208,174 (GRCm39) |
E397G |
probably damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,094 (GRCm39) |
T443A |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,227 (GRCm39) |
E128G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,096 (GRCm39) |
D663G |
probably damaging |
Het |
| Fndc10 |
T |
A |
4: 155,779,433 (GRCm39) |
V159D |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,633,164 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Gpr63 |
G |
T |
4: 25,008,445 (GRCm39) |
D390Y |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,876,409 (GRCm39) |
|
probably null |
Het |
| Igdcc3 |
A |
G |
9: 65,085,152 (GRCm39) |
T199A |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,739,047 (GRCm39) |
V285A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,062,101 (GRCm39) |
S443G |
possibly damaging |
Het |
| Med22 |
C |
T |
2: 26,799,004 (GRCm39) |
|
probably null |
Het |
| Or7c70 |
G |
T |
10: 78,683,207 (GRCm39) |
L181I |
possibly damaging |
Het |
| Pals2 |
G |
A |
6: 50,140,472 (GRCm39) |
R164Q |
probably benign |
Het |
| Pcnt |
T |
G |
10: 76,204,656 (GRCm39) |
D2583A |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,977,054 (GRCm39) |
R598Q |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,906,575 (GRCm39) |
V646A |
probably damaging |
Het |
| Podxl |
A |
T |
6: 31,501,319 (GRCm39) |
V412D |
probably damaging |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,123 (GRCm39) |
S129R |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,346,526 (GRCm39) |
I349V |
probably benign |
Het |
| Rorb |
C |
T |
19: 18,934,698 (GRCm39) |
G224D |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,757 (GRCm39) |
I508F |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,628,079 (GRCm39) |
V619M |
probably damaging |
Het |
| Tgm7 |
A |
T |
2: 120,931,514 (GRCm39) |
D216E |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,329,200 (GRCm39) |
D493G |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,583,598 (GRCm39) |
C749S |
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 |
|
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 |
2013-12-09 |
Incidental Mutation