Incidental Mutation 'IGL02623:Zxdc'
| ID |
300941 |
| 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 # |
IGL02623
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
90346474-90380472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 90359352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 661
(K661N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045740]
[ENSMUST00000075117]
[ENSMUST00000113539]
|
| AlphaFold |
Q8C8V1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045740
|
| SMART Domains |
Protein: ENSMUSP00000036329
Gene: ENSMUSG00000034430
| 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: K661N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: K661N
| 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: K661N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: K661N
| 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: ENSMUST00000203368
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000203493
AA Change: K100N
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,853,032 (GRCm39) |
I35F |
probably benign |
Het |
| Acad10 |
A |
G |
5: 121,767,993 (GRCm39) |
V819A |
possibly damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,209,809 (GRCm39) |
N279Y |
probably damaging |
Het |
| Aplp2 |
C |
A |
9: 31,089,379 (GRCm39) |
|
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,360 (GRCm39) |
D193G |
probably damaging |
Het |
| Cacng1 |
A |
G |
11: 107,595,145 (GRCm39) |
F144S |
probably damaging |
Het |
| Cfap91 |
T |
A |
16: 38,154,140 (GRCm39) |
D135V |
possibly damaging |
Het |
| Dnm3 |
T |
A |
1: 162,183,001 (GRCm39) |
T105S |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,763,649 (GRCm39) |
I1228F |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,498,937 (GRCm39) |
D271G |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,433 (GRCm39) |
Y2523C |
probably damaging |
Het |
| Fhl4 |
A |
G |
10: 84,934,035 (GRCm39) |
F249L |
probably damaging |
Het |
| Gm17782 |
T |
C |
17: 36,472,958 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,425,502 (GRCm39) |
Y219H |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,128,138 (GRCm39) |
L328P |
probably benign |
Het |
| Hspa12a |
T |
A |
19: 58,797,983 (GRCm39) |
Y245F |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,371 (GRCm39) |
Y153C |
probably damaging |
Het |
| Kcnd2 |
A |
T |
6: 21,726,194 (GRCm39) |
R562S |
probably benign |
Het |
| Lct |
T |
C |
1: 128,235,988 (GRCm39) |
S340G |
probably benign |
Het |
| Mettl25 |
C |
A |
10: 105,662,185 (GRCm39) |
G262W |
probably damaging |
Het |
| Mindy3 |
G |
A |
2: 12,369,294 (GRCm39) |
Q142* |
probably null |
Het |
| Optn |
T |
C |
2: 5,039,833 (GRCm39) |
E318G |
probably damaging |
Het |
| Or8j3 |
A |
T |
2: 86,028,363 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,148,768 (GRCm39) |
S443P |
probably benign |
Het |
| Parva |
A |
G |
7: 112,175,646 (GRCm39) |
D259G |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,448,269 (GRCm39) |
L3816Q |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,880,737 (GRCm39) |
F967S |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,425,334 (GRCm39) |
N817S |
probably damaging |
Het |
| Ptprt |
C |
A |
2: 161,449,372 (GRCm39) |
|
probably benign |
Het |
| Rbbp8nl |
T |
A |
2: 179,923,236 (GRCm39) |
S154C |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,640,122 (GRCm39) |
I169V |
probably damaging |
Het |
| Smyd4 |
G |
T |
11: 75,280,890 (GRCm39) |
|
probably benign |
Het |
| Tial1 |
A |
G |
7: 128,045,607 (GRCm39) |
Y326H |
probably benign |
Het |
| Tmem198b |
A |
G |
10: 128,638,320 (GRCm39) |
L81P |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,687,227 (GRCm39) |
C1115* |
probably null |
Het |
| Tns3 |
A |
G |
11: 8,387,141 (GRCm39) |
S1349P |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,376,395 (GRCm39) |
|
probably null |
Het |
| Zfp119b |
T |
C |
17: 56,246,793 (GRCm39) |
E99G |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,012,986 (GRCm39) |
C503S |
probably damaging |
Het |
| Zfyve19 |
G |
A |
2: 119,042,496 (GRCm39) |
|
probably null |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation