Incidental Mutation 'R1377:Zxdc'
| ID |
162906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zxdc
|
| Ensembl Gene |
ENSMUSG00000034430 |
| Gene Name |
ZXD family zinc finger C |
| Synonyms |
B930086F11Rik |
| MMRRC Submission |
039441-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R1377 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
90346474-90380472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90355885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 465
(S465P)
|
| 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: S465P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036329
Gene: ENSMUSG00000034430
AA Change: S465P
| 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: S465P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: S465P
| 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: S465P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: S465P
| 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
|
| Meta Mutation Damage Score |
0.2509 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,934,869 (GRCm39) |
V363A |
probably damaging |
Het |
| Arc |
G |
A |
15: 74,544,101 (GRCm39) |
H41Y |
possibly damaging |
Het |
| Atp7b |
G |
A |
8: 22,501,801 (GRCm39) |
A854V |
probably benign |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,059,596 (GRCm39) |
K4399* |
probably null |
Het |
| Dscam |
A |
G |
16: 96,573,694 (GRCm39) |
V756A |
probably damaging |
Het |
| Exoc3l4 |
A |
T |
12: 111,395,104 (GRCm39) |
E574V |
probably damaging |
Het |
| Fbxo46 |
T |
A |
7: 18,870,350 (GRCm39) |
V323E |
probably damaging |
Het |
| Gria1 |
C |
A |
11: 57,092,002 (GRCm39) |
N163K |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,545,202 (GRCm39) |
I133M |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,921,089 (GRCm39) |
L750Q |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,462,022 (GRCm39) |
R1195Q |
probably benign |
Het |
| Rbm15 |
T |
C |
3: 107,238,074 (GRCm39) |
T775A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,716 (GRCm39) |
E207G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,397,345 (GRCm39) |
I329N |
probably damaging |
Het |
| Stoml3 |
G |
A |
3: 53,415,062 (GRCm39) |
A285T |
probably benign |
Het |
| Trhr2 |
C |
T |
8: 123,087,327 (GRCm39) |
V38M |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,101,123 (GRCm39) |
L25P |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,021,694 (GRCm39) |
M748K |
unknown |
Het |
| Zfp454 |
T |
C |
11: 50,764,607 (GRCm39) |
Y164C |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,088,841 (GRCm39) |
V890A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ctgaattgtcttatcagtccAGTGTCATTTCT -3'
(R):5'- CTTCTCTCATACCCCAGCCCATTCC -3'
Sequencing Primer
(F):5'- tcagtccAGTGTCATTTCTGATGTAG -3'
(R):5'- GTCCATCTGTAGGACACAGTC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation