Incidental Mutation 'IGL01468:Zxdc'
ID |
88166 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zxdc
|
Ensembl Gene |
ENSMUSG00000034430 |
Gene Name |
ZXD family zinc finger C |
Synonyms |
B930086F11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
IGL01468
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
90346474-90380472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90350761 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 404
(E404V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109167
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045740]
[ENSMUST00000075117]
[ENSMUST00000113539]
|
AlphaFold |
Q8C8V1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045740
AA Change: E404V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036329 Gene: ENSMUSG00000034430 AA Change: E404V
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
73 |
N/A |
INTRINSIC |
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
low complexity region
|
134 |
152 |
N/A |
INTRINSIC |
ZnF_C2H2
|
176 |
200 |
4.79e-3 |
SMART |
ZnF_C2H2
|
209 |
233 |
4.3e-5 |
SMART |
ZnF_C2H2
|
239 |
263 |
4.3e-5 |
SMART |
ZnF_C2H2
|
269 |
291 |
1.69e-3 |
SMART |
ZnF_C2H2
|
298 |
322 |
1.82e-3 |
SMART |
ZnF_C2H2
|
329 |
353 |
1.26e-2 |
SMART |
ZnF_C2H2
|
359 |
383 |
1.36e-2 |
SMART |
ZnF_C2H2
|
389 |
413 |
5.21e-4 |
SMART |
ZnF_C2H2
|
419 |
443 |
4.72e-2 |
SMART |
ZnF_C2H2
|
452 |
477 |
3.07e-1 |
SMART |
low complexity region
|
487 |
502 |
N/A |
INTRINSIC |
low complexity region
|
635 |
651 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075117
AA Change: E404V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074619 Gene: ENSMUSG00000034430 AA Change: E404V
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
73 |
N/A |
INTRINSIC |
low complexity region
|
105 |
115 |
N/A |
INTRINSIC |
low complexity region
|
134 |
152 |
N/A |
INTRINSIC |
ZnF_C2H2
|
176 |
200 |
4.79e-3 |
SMART |
ZnF_C2H2
|
209 |
233 |
4.3e-5 |
SMART |
ZnF_C2H2
|
239 |
263 |
4.3e-5 |
SMART |
ZnF_C2H2
|
269 |
291 |
1.69e-3 |
SMART |
ZnF_C2H2
|
298 |
322 |
1.82e-3 |
SMART |
ZnF_C2H2
|
329 |
353 |
1.26e-2 |
SMART |
ZnF_C2H2
|
359 |
383 |
1.36e-2 |
SMART |
ZnF_C2H2
|
389 |
413 |
5.21e-4 |
SMART |
ZnF_C2H2
|
419 |
443 |
4.72e-2 |
SMART |
ZnF_C2H2
|
452 |
477 |
3.07e-1 |
SMART |
low complexity region
|
487 |
502 |
N/A |
INTRINSIC |
low complexity region
|
635 |
651 |
N/A |
INTRINSIC |
low complexity region
|
799 |
811 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113539
AA Change: E404V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109167 Gene: ENSMUSG00000034430 AA Change: E404V
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
95 |
N/A |
INTRINSIC |
low complexity region
|
127 |
137 |
N/A |
INTRINSIC |
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
ZnF_C2H2
|
198 |
222 |
4.79e-3 |
SMART |
ZnF_C2H2
|
231 |
255 |
4.3e-5 |
SMART |
ZnF_C2H2
|
261 |
285 |
4.3e-5 |
SMART |
ZnF_C2H2
|
291 |
313 |
1.69e-3 |
SMART |
ZnF_C2H2
|
320 |
344 |
1.82e-3 |
SMART |
ZnF_C2H2
|
351 |
375 |
1.26e-2 |
SMART |
ZnF_C2H2
|
381 |
405 |
1.36e-2 |
SMART |
ZnF_C2H2
|
411 |
435 |
5.21e-4 |
SMART |
ZnF_C2H2
|
441 |
465 |
4.72e-2 |
SMART |
ZnF_C2H2
|
474 |
499 |
3.07e-1 |
SMART |
low complexity region
|
509 |
524 |
N/A |
INTRINSIC |
low complexity region
|
657 |
673 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137483
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203493
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
A |
10: 79,839,711 (GRCm39) |
V781I |
probably benign |
Het |
Aldh5a1 |
G |
T |
13: 25,095,536 (GRCm39) |
|
probably benign |
Het |
Arhgap12 |
T |
C |
18: 6,057,576 (GRCm39) |
T435A |
probably benign |
Het |
Atrnl1 |
G |
A |
19: 57,688,144 (GRCm39) |
V870I |
probably benign |
Het |
Cerkl |
A |
T |
2: 79,173,559 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
T |
A |
6: 47,248,305 (GRCm39) |
L13* |
probably null |
Het |
Cr2 |
G |
A |
1: 194,850,843 (GRCm39) |
P208S |
probably damaging |
Het |
Dapk1 |
A |
G |
13: 60,908,612 (GRCm39) |
D1075G |
probably benign |
Het |
Dhx57 |
T |
A |
17: 80,563,039 (GRCm39) |
K863* |
probably null |
Het |
Dnaaf5 |
C |
A |
5: 139,137,235 (GRCm39) |
|
probably null |
Het |
Fbxw7 |
T |
A |
3: 84,879,806 (GRCm39) |
I336K |
probably benign |
Het |
Ftcd |
A |
G |
10: 76,420,421 (GRCm39) |
D385G |
probably benign |
Het |
Gm10153 |
T |
C |
7: 141,743,778 (GRCm39) |
S117G |
unknown |
Het |
Gzmb |
T |
C |
14: 56,497,772 (GRCm39) |
Y156C |
probably benign |
Het |
Herc3 |
T |
A |
6: 58,831,880 (GRCm39) |
D83E |
probably benign |
Het |
Kif2b |
A |
G |
11: 91,467,191 (GRCm39) |
V364A |
probably damaging |
Het |
Mknk2 |
A |
G |
10: 80,503,498 (GRCm39) |
|
probably benign |
Het |
Or7a36 |
A |
T |
10: 78,819,696 (GRCm39) |
Q24L |
probably damaging |
Het |
Pgm1 |
A |
T |
4: 99,819,367 (GRCm39) |
N197I |
possibly damaging |
Het |
Prss39 |
C |
T |
1: 34,538,481 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,088,201 (GRCm39) |
V236A |
probably damaging |
Het |
Slc17a8 |
C |
T |
10: 89,427,883 (GRCm39) |
|
probably null |
Het |
Slc24a3 |
A |
G |
2: 145,455,500 (GRCm39) |
Y463C |
probably benign |
Het |
Slc4a7 |
A |
G |
14: 14,737,480 (GRCm38) |
E149G |
probably damaging |
Het |
Synj1 |
G |
A |
16: 90,807,060 (GRCm39) |
|
probably benign |
Het |
Tas2r138 |
T |
A |
6: 40,589,410 (GRCm39) |
M279L |
probably benign |
Het |
Terb1 |
A |
G |
8: 105,208,799 (GRCm39) |
|
probably benign |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Trmt5 |
C |
T |
12: 73,327,878 (GRCm39) |
V442I |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,840,071 (GRCm39) |
I383V |
possibly damaging |
Het |
Uchl4 |
A |
G |
9: 64,142,998 (GRCm39) |
T160A |
possibly damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,182,382 (GRCm39) |
M439K |
possibly damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,892,868 (GRCm39) |
L757Q |
probably damaging |
Het |
Zfp518a |
T |
C |
19: 40,904,475 (GRCm39) |
V1468A |
probably benign |
Het |
|
Other mutations in Zxdc |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01943:Zxdc
|
APN |
6 |
90,349,520 (GRCm39) |
intron |
probably benign |
|
IGL02406:Zxdc
|
APN |
6 |
90,375,818 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02596:Zxdc
|
APN |
6 |
90,350,691 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02623:Zxdc
|
APN |
6 |
90,359,352 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02927:Zxdc
|
APN |
6 |
90,349,544 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03230:Zxdc
|
APN |
6 |
90,350,785 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Zxdc
|
UTSW |
6 |
90,350,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R0071:Zxdc
|
UTSW |
6 |
90,347,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R0194:Zxdc
|
UTSW |
6 |
90,349,519 (GRCm39) |
intron |
probably benign |
|
R1065:Zxdc
|
UTSW |
6 |
90,355,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R1377:Zxdc
|
UTSW |
6 |
90,355,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R1405:Zxdc
|
UTSW |
6 |
90,361,225 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1405:Zxdc
|
UTSW |
6 |
90,361,225 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1692:Zxdc
|
UTSW |
6 |
90,355,933 (GRCm39) |
nonsense |
probably null |
|
R2171:Zxdc
|
UTSW |
6 |
90,359,461 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3952:Zxdc
|
UTSW |
6 |
90,347,449 (GRCm39) |
splice site |
probably null |
|
R4400:Zxdc
|
UTSW |
6 |
90,346,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R4660:Zxdc
|
UTSW |
6 |
90,355,820 (GRCm39) |
missense |
probably damaging |
0.99 |
R4776:Zxdc
|
UTSW |
6 |
90,347,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R4781:Zxdc
|
UTSW |
6 |
90,349,535 (GRCm39) |
missense |
probably damaging |
0.98 |
R4843:Zxdc
|
UTSW |
6 |
90,359,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R5028:Zxdc
|
UTSW |
6 |
90,359,320 (GRCm39) |
missense |
probably benign |
0.44 |
R5260:Zxdc
|
UTSW |
6 |
90,359,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R5279:Zxdc
|
UTSW |
6 |
90,347,419 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5324:Zxdc
|
UTSW |
6 |
90,350,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R5363:Zxdc
|
UTSW |
6 |
90,359,128 (GRCm39) |
missense |
probably damaging |
0.97 |
R5436:Zxdc
|
UTSW |
6 |
90,347,542 (GRCm39) |
missense |
probably damaging |
0.99 |
R5872:Zxdc
|
UTSW |
6 |
90,347,281 (GRCm39) |
missense |
probably damaging |
0.99 |
R5940:Zxdc
|
UTSW |
6 |
90,347,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R6762:Zxdc
|
UTSW |
6 |
90,359,165 (GRCm39) |
missense |
probably benign |
|
R7175:Zxdc
|
UTSW |
6 |
90,346,645 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7197:Zxdc
|
UTSW |
6 |
90,355,819 (GRCm39) |
missense |
probably damaging |
0.99 |
R7238:Zxdc
|
UTSW |
6 |
90,346,642 (GRCm39) |
missense |
unknown |
|
R7247:Zxdc
|
UTSW |
6 |
90,361,155 (GRCm39) |
missense |
unknown |
|
R7917:Zxdc
|
UTSW |
6 |
90,358,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R7976:Zxdc
|
UTSW |
6 |
90,375,749 (GRCm39) |
missense |
probably benign |
0.05 |
R8792:Zxdc
|
UTSW |
6 |
90,346,986 (GRCm39) |
missense |
probably benign |
0.00 |
R8917:Zxdc
|
UTSW |
6 |
90,359,305 (GRCm39) |
missense |
probably benign |
0.00 |
R9016:Zxdc
|
UTSW |
6 |
90,359,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R9076:Zxdc
|
UTSW |
6 |
90,349,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R9190:Zxdc
|
UTSW |
6 |
90,375,773 (GRCm39) |
missense |
probably damaging |
0.96 |
R9216:Zxdc
|
UTSW |
6 |
90,359,189 (GRCm39) |
missense |
probably benign |
0.37 |
|
Posted On |
2013-11-18 |