Incidental Mutation 'R9216:Zxdc'
| ID |
699185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zxdc
|
| Ensembl Gene |
ENSMUSG00000034430 |
| Gene Name |
ZXD family zinc finger C |
| Synonyms |
B930086F11Rik |
| MMRRC Submission |
068958-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R9216 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
90346474-90380472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 90359189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 607
(T607K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074619
(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: T607K
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074619
Gene: ENSMUSG00000034430
AA Change: T607K
| 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 |
possibly damaging
Transcript: ENSMUST00000113539
AA Change: T607K
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109167
Gene: ENSMUSG00000034430
AA Change: T607K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
A |
T |
12: 52,927,668 (GRCm39) |
T193S |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,486,049 (GRCm39) |
T558A |
possibly damaging |
Het |
| Asap2 |
A |
G |
12: 21,263,191 (GRCm39) |
I269V |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,165,423 (GRCm39) |
V273A |
probably benign |
Het |
| Bag3 |
C |
A |
7: 128,143,923 (GRCm39) |
D306E |
possibly damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,177,514 (GRCm39) |
P2076S |
probably damaging |
Het |
| Btbd7 |
A |
C |
12: 102,761,563 (GRCm39) |
L541V |
probably damaging |
Het |
| C6 |
A |
T |
15: 4,820,465 (GRCm39) |
D492V |
probably damaging |
Het |
| Cdhr5 |
C |
T |
7: 140,851,615 (GRCm39) |
S563N |
possibly damaging |
Het |
| Cnn1 |
C |
G |
9: 22,019,474 (GRCm39) |
L281V |
probably benign |
Het |
| Egflam |
G |
A |
15: 7,281,942 (GRCm39) |
T398I |
probably benign |
Het |
| Eif4g2 |
T |
G |
7: 110,673,415 (GRCm39) |
D788A |
probably benign |
Het |
| Elavl4 |
T |
C |
4: 110,108,546 (GRCm39) |
E66G |
probably damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,276,887 (GRCm39) |
D87V |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,820,425 (GRCm39) |
D5386V |
probably damaging |
Het |
| Ftl1 |
A |
C |
7: 45,108,959 (GRCm39) |
S33A |
probably benign |
Het |
| Gm21560 |
T |
C |
14: 6,218,338 (GRCm38) |
R47G |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 26,927,429 (GRCm39) |
C162S |
probably benign |
Het |
| Katnip |
T |
A |
7: 125,471,926 (GRCm39) |
I1531N |
probably damaging |
Het |
| Kremen2 |
C |
T |
17: 23,962,781 (GRCm39) |
A102T |
probably damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,806,972 (GRCm39) |
Q480L |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,823,188 (GRCm39) |
C1387R |
probably benign |
Het |
| Nmi |
A |
G |
2: 51,846,003 (GRCm39) |
V93A |
probably damaging |
Het |
| Ntn1 |
T |
C |
11: 68,117,397 (GRCm39) |
K484R |
possibly damaging |
Het |
| Olig1 |
T |
C |
16: 91,066,915 (GRCm39) |
S51P |
probably benign |
Het |
| Or6c76 |
A |
T |
10: 129,611,796 (GRCm39) |
R4S |
probably benign |
Het |
| Pah |
G |
T |
10: 87,357,888 (GRCm39) |
V4F |
probably benign |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pramel39-ps |
A |
T |
5: 94,450,952 (GRCm39) |
N391K |
possibly damaging |
Het |
| Prox1 |
C |
A |
1: 189,892,905 (GRCm39) |
E513D |
possibly damaging |
Het |
| Psd3 |
T |
C |
8: 68,573,539 (GRCm39) |
N214S |
probably benign |
Het |
| Rhobtb1 |
A |
G |
10: 69,108,628 (GRCm39) |
S505G |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,801,277 (GRCm39) |
L829H |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,304,401 (GRCm39) |
D852E |
|
Het |
| Senp2 |
T |
C |
16: 21,847,344 (GRCm39) |
|
probably null |
Het |
| Sf3b1 |
A |
G |
1: 55,051,376 (GRCm39) |
V184A |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,392,955 (GRCm39) |
T1226A |
unknown |
Het |
| Slc1a6 |
G |
A |
10: 78,637,692 (GRCm39) |
R406H |
probably damaging |
Het |
| Slc26a4 |
C |
A |
12: 31,578,659 (GRCm39) |
V665L |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,647,611 (GRCm39) |
Y932C |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,936,814 (GRCm39) |
N97I |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,748,504 (GRCm39) |
S4182P |
probably damaging |
Het |
| Tubb6 |
T |
C |
18: 67,534,514 (GRCm39) |
S138P |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,292,285 (GRCm39) |
A393T |
probably benign |
Het |
| Utrn |
G |
T |
10: 12,689,229 (GRCm39) |
P19T |
probably benign |
Het |
| Vcl |
T |
G |
14: 21,033,515 (GRCm39) |
L157W |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,703 (GRCm39) |
I150F |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,257 (GRCm39) |
M240K |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,112 (GRCm39) |
S154T |
probably benign |
Het |
| Wbp2 |
T |
C |
11: 115,974,724 (GRCm39) |
N37D |
probably benign |
Het |
| Zfc3h1 |
C |
G |
10: 115,221,528 (GRCm39) |
D142E |
unknown |
Het |
| Zmym6 |
T |
C |
4: 127,002,500 (GRCm39) |
V577A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGATGAAGCACTGAACTC -3'
(R):5'- TCCACCTTTATTGGAACCAGC -3'
Sequencing Primer
(F):5'- TGAAGCACTGAACTCTGGGATCC -3'
(R):5'- CACCTTTATTGGAACCAGCAGATCTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation