Incidental Mutation 'R3952:Zxdc'
| ID |
307991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zxdc
|
| Ensembl Gene |
ENSMUSG00000034430 |
| Gene Name |
ZXD family zinc finger C |
| Synonyms |
B930086F11Rik |
| MMRRC Submission |
040829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R3952 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90346474-90380472 bp(+) (GRCm39) |
| Type of Mutation |
splice site (794 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 90347449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045740]
[ENSMUST00000075117]
[ENSMUST00000113539]
|
| AlphaFold |
Q8C8V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045740
AA Change: K270R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036329
Gene: ENSMUSG00000034430
AA Change: K270R
| 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: K270R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: K270R
| 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: K270R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: K270R
| 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 null
Transcript: ENSMUST00000203493
|
| Meta Mutation Damage Score |
0.1584 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,451,158 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
| Abi3bp |
C |
T |
16: 56,424,401 (GRCm39) |
T450I |
possibly damaging |
Het |
| Abl1 |
A |
T |
2: 31,674,549 (GRCm39) |
T213S |
probably damaging |
Het |
| Apc2 |
C |
T |
10: 80,150,318 (GRCm39) |
R1762W |
probably damaging |
Het |
| Arl2 |
G |
T |
19: 6,184,707 (GRCm39) |
T182N |
probably benign |
Het |
| Brd8 |
C |
G |
18: 34,747,497 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,508,822 (GRCm39) |
Y666H |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,225,707 (GRCm39) |
V3127A |
possibly damaging |
Het |
| Copg1 |
G |
A |
6: 87,882,198 (GRCm39) |
A598T |
probably benign |
Het |
| Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
| Epha1 |
C |
A |
6: 42,341,219 (GRCm39) |
L535F |
probably damaging |
Het |
| Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
| Fads2b |
T |
C |
2: 85,330,548 (GRCm39) |
|
probably benign |
Het |
| Ggcx |
G |
A |
6: 72,403,541 (GRCm39) |
G363R |
probably benign |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kpna1 |
A |
T |
16: 35,823,252 (GRCm39) |
T35S |
probably benign |
Het |
| Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
| Mgat4a |
A |
G |
1: 37,489,495 (GRCm39) |
|
probably benign |
Het |
| Mrpl48 |
T |
A |
7: 100,209,130 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
| Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
| Or10a3n |
C |
A |
7: 108,493,189 (GRCm39) |
V142L |
probably benign |
Het |
| Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,505 (GRCm39) |
I214T |
probably benign |
Het |
| Pacs2 |
T |
C |
12: 113,024,733 (GRCm39) |
S408P |
probably damaging |
Het |
| Pcx |
C |
T |
19: 4,667,995 (GRCm39) |
H506Y |
probably benign |
Het |
| Pla2g6 |
G |
T |
15: 79,197,296 (GRCm39) |
P93T |
probably damaging |
Het |
| Pramel28 |
C |
T |
4: 143,692,356 (GRCm39) |
W215* |
probably null |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Rcor1 |
A |
G |
12: 111,006,169 (GRCm39) |
|
probably benign |
Het |
| Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
| Sytl2 |
T |
A |
7: 90,030,700 (GRCm39) |
|
probably benign |
Het |
| Tia1 |
T |
C |
6: 86,393,319 (GRCm39) |
F53S |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
| Tmod1 |
A |
G |
4: 46,078,315 (GRCm39) |
N41S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,583,139 (GRCm39) |
I22585V |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
| Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
| Vps39 |
C |
T |
2: 120,180,656 (GRCm39) |
R43Q |
probably benign |
Het |
| Vwa5b2 |
T |
C |
16: 20,417,111 (GRCm39) |
*603Q |
probably null |
Het |
| Zeb1 |
G |
A |
18: 5,772,716 (GRCm39) |
A1002T |
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 |
|
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 |
|
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'- TTCGCCAAGAAGCACCAGTTG -3'
(R):5'- TTAGATCAGGGCGCGTAAC -3'
Sequencing Primer
(F):5'- ACCAGTTGAAGGTGCACC -3'
(R):5'- TGCCCAAACAAGCGACAGTTTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation