Incidental Mutation 'IGL03230:Zxdc'
| ID |
413869 |
| 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: 0.128)
|
| Stock # |
IGL03230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
90346474-90380472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90350785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 412
(T412I)
|
| 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: T412I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036329
Gene: ENSMUSG00000034430
AA Change: T412I
| 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: T412I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: T412I
| 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: T412I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: T412I
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,244,313 (GRCm39) |
Q2059K |
probably benign |
Het |
| Abcc1 |
A |
T |
16: 14,275,811 (GRCm39) |
T902S |
probably benign |
Het |
| Acly |
A |
T |
11: 100,384,885 (GRCm39) |
C623S |
probably damaging |
Het |
| Ak8 |
A |
G |
2: 28,599,935 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,918,065 (GRCm39) |
D1811G |
probably damaging |
Het |
| Bms1 |
T |
A |
6: 118,395,522 (GRCm39) |
K8N |
possibly damaging |
Het |
| Cdc25b |
T |
C |
2: 131,030,060 (GRCm39) |
F79L |
probably benign |
Het |
| Cdh13 |
T |
A |
8: 119,969,056 (GRCm39) |
V471D |
probably damaging |
Het |
| Cnot4 |
T |
C |
6: 35,028,344 (GRCm39) |
D424G |
probably damaging |
Het |
| Cyp2a12 |
A |
T |
7: 26,729,017 (GRCm39) |
I70F |
possibly damaging |
Het |
| Cyp2c66 |
A |
T |
19: 39,172,302 (GRCm39) |
R406W |
possibly damaging |
Het |
| Cyp2g1 |
C |
A |
7: 26,518,828 (GRCm39) |
P408Q |
probably damaging |
Het |
| Defa26 |
A |
G |
8: 22,108,314 (GRCm39) |
D39G |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,992,023 (GRCm39) |
S3020T |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,223,133 (GRCm39) |
K1119* |
probably null |
Het |
| Gm10110 |
A |
C |
14: 90,135,733 (GRCm39) |
|
noncoding transcript |
Het |
| Grk2 |
C |
T |
19: 4,337,857 (GRCm39) |
E508K |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,248,519 (GRCm39) |
I94N |
probably benign |
Het |
| Il23r |
C |
T |
6: 67,400,948 (GRCm39) |
A461T |
probably benign |
Het |
| Iqca1 |
A |
G |
1: 90,072,724 (GRCm39) |
I52T |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,090,550 (GRCm39) |
M1146K |
probably benign |
Het |
| Kifap3 |
C |
A |
1: 163,653,293 (GRCm39) |
T293K |
probably benign |
Het |
| Luzp1 |
G |
A |
4: 136,270,189 (GRCm39) |
S804N |
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 10,002,221 (GRCm39) |
|
probably benign |
Het |
| Mctp1 |
G |
T |
13: 76,972,976 (GRCm39) |
A403S |
possibly damaging |
Het |
| Mtnr1a |
T |
C |
8: 45,540,435 (GRCm39) |
I132T |
probably damaging |
Het |
| Musk |
T |
A |
4: 58,296,710 (GRCm39) |
N103K |
probably damaging |
Het |
| Nipal2 |
T |
A |
15: 34,575,702 (GRCm39) |
D352V |
probably damaging |
Het |
| Oas1a |
T |
A |
5: 121,036,419 (GRCm39) |
K336I |
probably benign |
Het |
| Oasl1 |
T |
C |
5: 115,075,115 (GRCm39) |
S392P |
probably damaging |
Het |
| Or2ag17 |
A |
G |
7: 106,389,911 (GRCm39) |
L99P |
probably damaging |
Het |
| Or3a1c |
A |
G |
11: 74,046,099 (GRCm39) |
T40A |
probably benign |
Het |
| Or4c117 |
A |
G |
2: 88,955,892 (GRCm39) |
F61S |
probably damaging |
Het |
| Or4c120 |
A |
T |
2: 89,001,433 (GRCm39) |
M41K |
possibly damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,457 (GRCm39) |
T287A |
probably benign |
Het |
| Or5m8 |
A |
T |
2: 85,822,583 (GRCm39) |
T141S |
probably benign |
Het |
| Pate3 |
T |
G |
9: 35,557,402 (GRCm39) |
T85P |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,174,791 (GRCm39) |
N1988D |
probably damaging |
Het |
| Plcxd3 |
T |
A |
15: 4,546,272 (GRCm39) |
I92N |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 75,968,654 (GRCm39) |
R213* |
probably null |
Het |
| Skic3 |
T |
A |
13: 76,303,766 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
T |
C |
19: 41,717,524 (GRCm39) |
D80G |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,230,531 (GRCm39) |
V472A |
probably damaging |
Het |
| Trp63 |
T |
A |
16: 25,707,760 (GRCm39) |
D485E |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,791,297 (GRCm39) |
V292A |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,198,390 (GRCm39) |
A1485S |
probably benign |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,650 (GRCm39) |
R117S |
probably damaging |
Het |
| Vmn2r97 |
C |
A |
17: 19,149,668 (GRCm39) |
P352H |
probably benign |
Het |
|
| Other mutations in Zxdc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01468:Zxdc
|
APN |
6 |
90,350,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation