Incidental Mutation 'IGL02927:Zxdc'
ID |
363915 |
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 # |
IGL02927
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
90346474-90380472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 90349544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 311
(T311P)
|
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: T311P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036329 Gene: ENSMUSG00000034430 AA Change: T311P
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: T311P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074619 Gene: ENSMUSG00000034430 AA Change: T311P
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: T311P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109167 Gene: ENSMUSG00000034430 AA Change: T311P
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
G |
A |
17: 48,347,729 (GRCm39) |
Q192* |
probably null |
Het |
Actl7b |
C |
A |
4: 56,740,609 (GRCm39) |
D250Y |
probably damaging |
Het |
Akr1a1 |
T |
A |
4: 116,495,180 (GRCm39) |
N273I |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,172,431 (GRCm39) |
I1737N |
possibly damaging |
Het |
Cant1 |
T |
C |
11: 118,301,888 (GRCm39) |
D143G |
probably benign |
Het |
Cast |
T |
A |
13: 74,885,113 (GRCm39) |
D295V |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,395,143 (GRCm39) |
N851D |
probably damaging |
Het |
Cntn1 |
G |
A |
15: 92,189,561 (GRCm39) |
R628H |
probably benign |
Het |
Cul4a |
A |
G |
8: 13,174,861 (GRCm39) |
D279G |
possibly damaging |
Het |
Cyp2s1 |
T |
C |
7: 25,507,577 (GRCm39) |
K291E |
probably benign |
Het |
Dhx35 |
A |
T |
2: 158,662,336 (GRCm39) |
I205F |
probably damaging |
Het |
Dpp8 |
G |
T |
9: 64,967,551 (GRCm39) |
R518L |
probably benign |
Het |
Gm9 |
A |
G |
X: 36,474,207 (GRCm39) |
I34T |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,453,029 (GRCm39) |
C5429S |
probably damaging |
Het |
Iqgap2 |
A |
C |
13: 95,861,184 (GRCm39) |
L314R |
possibly damaging |
Het |
Itgav |
A |
C |
2: 83,625,884 (GRCm39) |
Y810S |
probably damaging |
Het |
Kcng4 |
G |
T |
8: 120,353,061 (GRCm39) |
P283Q |
probably benign |
Het |
Lrrn3 |
T |
A |
12: 41,503,343 (GRCm39) |
I325F |
probably damaging |
Het |
Lzts3 |
A |
G |
2: 130,479,877 (GRCm39) |
|
probably benign |
Het |
Marchf7 |
T |
C |
2: 60,067,262 (GRCm39) |
I594T |
probably damaging |
Het |
Matn2 |
A |
T |
15: 34,355,801 (GRCm39) |
I269F |
probably damaging |
Het |
Matn4 |
A |
G |
2: 164,231,757 (GRCm39) |
F591S |
probably damaging |
Het |
Mknk1 |
C |
T |
4: 115,714,288 (GRCm39) |
R20C |
probably damaging |
Het |
Mrgbp |
T |
C |
2: 180,226,272 (GRCm39) |
V115A |
probably damaging |
Het |
Mrgprb8 |
C |
T |
7: 48,038,373 (GRCm39) |
Q15* |
probably null |
Het |
Naa38 |
T |
C |
11: 69,286,743 (GRCm39) |
L9P |
probably damaging |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Or13a19 |
T |
A |
7: 139,902,654 (GRCm39) |
L14Q |
probably damaging |
Het |
Or2y3 |
T |
A |
17: 38,393,114 (GRCm39) |
M252L |
probably benign |
Het |
Or9i2 |
G |
A |
19: 13,816,288 (GRCm39) |
T83I |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,794,163 (GRCm39) |
N1950S |
probably damaging |
Het |
Plagl2 |
A |
G |
2: 153,074,199 (GRCm39) |
L234P |
probably damaging |
Het |
Psmb11 |
C |
T |
14: 54,863,108 (GRCm39) |
R109W |
probably damaging |
Het |
Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
Rsbn1 |
A |
G |
3: 103,869,668 (GRCm39) |
T710A |
probably benign |
Het |
Shld2 |
T |
C |
14: 33,989,658 (GRCm39) |
Y416C |
probably damaging |
Het |
Slitrk4 |
A |
G |
X: 63,314,933 (GRCm39) |
I578T |
possibly damaging |
Het |
Srgap1 |
T |
C |
10: 121,691,367 (GRCm39) |
Y289C |
probably damaging |
Het |
Stxbp2 |
A |
G |
8: 3,692,685 (GRCm39) |
D579G |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,549,942 (GRCm39) |
Y235H |
probably damaging |
Het |
Thbs3 |
A |
G |
3: 89,127,514 (GRCm39) |
N385S |
probably damaging |
Het |
Trmo |
A |
G |
4: 46,387,602 (GRCm39) |
S80P |
probably damaging |
Het |
Ubc |
T |
C |
5: 125,463,201 (GRCm39) |
K709E |
probably benign |
Het |
Vstm4 |
C |
T |
14: 32,659,745 (GRCm39) |
P296S |
probably damaging |
Het |
Wdr11 |
G |
A |
7: 129,208,822 (GRCm39) |
|
probably null |
Het |
Wdr19 |
T |
C |
5: 65,409,721 (GRCm39) |
I1153T |
possibly damaging |
Het |
Xpo6 |
T |
C |
7: 125,755,901 (GRCm39) |
E213G |
possibly damaging |
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 |
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 |
2015-12-18 |