Incidental Mutation 'R5028:Zxdc'
| ID |
391504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zxdc
|
| Ensembl Gene |
ENSMUSG00000034430 |
| Gene Name |
ZXD family zinc finger C |
| Synonyms |
B930086F11Rik |
| MMRRC Submission |
042619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R5028 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90346474-90380472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 90359320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 651
(G651C)
|
| 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 benign
Transcript: ENSMUST00000075117
AA Change: G651C
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: G651C
| 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 benign
Transcript: ENSMUST00000113539
AA Change: G651C
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: G651C
| 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: G90C
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
97% (62/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,104,356 (GRCm39) |
S777C |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,187,458 (GRCm39) |
|
probably null |
Het |
| Arhgap17 |
T |
A |
7: 122,893,896 (GRCm39) |
H508L |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,803,709 (GRCm39) |
|
probably null |
Het |
| Atp12a |
T |
C |
14: 56,624,435 (GRCm39) |
F961S |
probably damaging |
Het |
| B4galnt4 |
C |
A |
7: 140,647,975 (GRCm39) |
P497Q |
probably benign |
Het |
| Camsap1 |
A |
G |
2: 25,834,568 (GRCm39) |
S364P |
probably damaging |
Het |
| Ccdc150 |
C |
A |
1: 54,302,636 (GRCm39) |
D85E |
probably benign |
Het |
| Cdc45 |
A |
G |
16: 18,613,930 (GRCm39) |
Y291H |
probably benign |
Het |
| Comp |
A |
C |
8: 70,829,290 (GRCm39) |
N289T |
probably damaging |
Het |
| Cops3 |
T |
A |
11: 59,708,856 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
G |
A |
10: 43,874,208 (GRCm39) |
H967Y |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 16,039,090 (GRCm39) |
F2423I |
probably damaging |
Het |
| Dact1 |
C |
A |
12: 71,365,347 (GRCm39) |
C709* |
probably null |
Het |
| Dcxr |
T |
G |
11: 120,617,273 (GRCm39) |
Q90P |
probably damaging |
Het |
| Ell |
A |
G |
8: 71,043,349 (GRCm39) |
Y494C |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,727 (GRCm39) |
E333G |
possibly damaging |
Het |
| Eml2 |
T |
C |
7: 18,913,372 (GRCm39) |
|
probably null |
Het |
| Fam186b |
T |
A |
15: 99,178,682 (GRCm39) |
M215L |
probably damaging |
Het |
| Gm17078 |
T |
A |
14: 51,848,699 (GRCm39) |
R13W |
probably null |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,499,206 (GRCm39) |
F196S |
possibly damaging |
Het |
| Ier5 |
A |
G |
1: 154,974,849 (GRCm39) |
S110P |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,982,049 (GRCm39) |
I793F |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,646,176 (GRCm39) |
I643T |
probably damaging |
Het |
| Map3k19 |
A |
T |
1: 127,750,969 (GRCm39) |
L794Q |
probably benign |
Het |
| Meox2 |
A |
T |
12: 37,158,935 (GRCm39) |
M36L |
probably benign |
Het |
| Mgat5b |
T |
A |
11: 116,875,855 (GRCm39) |
L693Q |
probably damaging |
Het |
| Mup4 |
T |
A |
4: 59,958,124 (GRCm39) |
E148V |
possibly damaging |
Het |
| Napb |
T |
C |
2: 148,545,057 (GRCm39) |
N162S |
possibly damaging |
Het |
| Nlgn2 |
T |
C |
11: 69,718,563 (GRCm39) |
D339G |
probably benign |
Het |
| Nucks1 |
C |
T |
1: 131,855,840 (GRCm39) |
R90C |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,691,196 (GRCm39) |
V229A |
probably damaging |
Het |
| Or5an9 |
T |
A |
19: 12,187,518 (GRCm39) |
V196E |
possibly damaging |
Het |
| Plekhd1 |
A |
T |
12: 80,739,723 (GRCm39) |
D24V |
probably damaging |
Het |
| Prpf4b |
C |
T |
13: 35,083,958 (GRCm39) |
P909L |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,132,485 (GRCm39) |
K116* |
probably null |
Het |
| Ror1 |
A |
G |
4: 100,269,133 (GRCm39) |
T324A |
possibly damaging |
Het |
| Slc24a4 |
G |
A |
12: 102,230,629 (GRCm39) |
G505R |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,956,702 (GRCm39) |
I112T |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,314 (GRCm39) |
S69G |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,458,447 (GRCm39) |
E429D |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,663,312 (GRCm39) |
D116G |
probably damaging |
Het |
| Tcea3 |
T |
A |
4: 135,985,246 (GRCm39) |
V154E |
possibly damaging |
Het |
| Tigd2 |
G |
A |
6: 59,188,205 (GRCm39) |
W357* |
probably null |
Het |
| Tmem177 |
T |
A |
1: 119,838,419 (GRCm39) |
T87S |
probably benign |
Het |
| Treh |
A |
T |
9: 44,594,186 (GRCm39) |
E144V |
probably null |
Het |
| Trpm6 |
T |
A |
19: 18,764,124 (GRCm39) |
D243E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,608,394 (GRCm39) |
D17843G |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,365 (GRCm39) |
|
probably null |
Het |
| Vmn1r201 |
G |
A |
13: 22,659,530 (GRCm39) |
W248* |
probably null |
Het |
| Yap1 |
T |
C |
9: 8,001,690 (GRCm39) |
T99A |
probably benign |
Het |
| Zbtb8b |
C |
A |
4: 129,326,793 (GRCm39) |
C91F |
probably damaging |
Het |
| Zfp882 |
A |
G |
8: 72,668,498 (GRCm39) |
T442A |
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 |
|
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 |
|
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'- TTGTTCTTGGGACATCGGCC -3'
(R):5'- AGAGTGCTTCATACCAAGTAGAGAC -3'
Sequencing Primer
(F):5'- ATCGGCCACGGTTCTCCAAC -3'
(R):5'- TCATACCAAGTAGAGACTGCCTGTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation