Incidental Mutation 'R5346:Dqx1'
| ID |
422609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dqx1
|
| Ensembl Gene |
ENSMUSG00000009145 |
| Gene Name |
DEAQ RNA-dependent ATPase |
| Synonyms |
2310066E11Rik |
| MMRRC Submission |
042925-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R5346 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83034825-83044299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83036700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 235
(D235N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077502]
[ENSMUST00000092618]
[ENSMUST00000204803]
|
| AlphaFold |
Q924H9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077502
AA Change: D235N
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
AA Change: D235N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
DEXDc
|
30 |
236 |
5.01e-4 |
SMART |
|
low complexity region
|
268 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
|
HA2
|
441 |
530 |
4e-19 |
SMART |
|
Pfam:OB_NTP_bind
|
555 |
674 |
2.2e-11 |
PFAM |
|
low complexity region
|
695 |
708 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092618
|
| SMART Domains |
Protein: ENSMUSP00000090281
Gene: ENSMUSG00000068328
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
PlsC
|
119 |
222 |
1.04e-1 |
SMART |
|
low complexity region
|
307 |
322 |
N/A |
INTRINSIC |
|
CUE
|
325 |
366 |
1.3e-9 |
SMART |
|
low complexity region
|
378 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203749
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204803
AA Change: D235N
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144697
Gene: ENSMUSG00000009145
AA Change: D235N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
19 |
N/A |
INTRINSIC |
|
DEXDc
|
30 |
236 |
2.1e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204281
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204383
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
A |
5: 62,872,089 (GRCm39) |
Y513F |
probably benign |
Het |
| Cluh |
C |
A |
11: 74,556,044 (GRCm39) |
H832N |
probably damaging |
Het |
| Cntfr |
G |
T |
4: 41,675,042 (GRCm39) |
Y21* |
probably null |
Het |
| Cog2 |
T |
C |
8: 125,273,370 (GRCm39) |
S570P |
possibly damaging |
Het |
| Cops7b |
A |
G |
1: 86,510,790 (GRCm39) |
|
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,402,835 (GRCm39) |
D1345G |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,361,857 (GRCm39) |
I206V |
possibly damaging |
Het |
| Ednra |
T |
C |
8: 78,401,597 (GRCm39) |
Y231C |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,581,540 (GRCm39) |
Y484C |
probably damaging |
Het |
| Fmnl3 |
A |
T |
15: 99,229,871 (GRCm39) |
V150D |
probably damaging |
Het |
| Gabrb2 |
T |
A |
11: 42,312,216 (GRCm39) |
S14T |
probably benign |
Het |
| Gm10608 |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,792 (GRCm39) |
|
probably null |
Het |
| Gpatch2 |
T |
C |
1: 186,958,065 (GRCm39) |
L140P |
probably benign |
Het |
| Gsdmc |
A |
G |
15: 63,648,735 (GRCm39) |
Y400H |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,135,415 (GRCm39) |
S239P |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,498,995 (GRCm39) |
I4004N |
probably damaging |
Het |
| Insc |
T |
A |
7: 114,403,776 (GRCm39) |
N63K |
possibly damaging |
Het |
| Mmp28 |
T |
C |
11: 83,333,489 (GRCm39) |
H484R |
probably benign |
Het |
| Nptn |
C |
A |
9: 58,531,070 (GRCm39) |
Y64* |
probably null |
Het |
| Nsd2 |
T |
A |
5: 34,036,480 (GRCm39) |
S655T |
possibly damaging |
Het |
| Nub1 |
A |
G |
5: 24,902,414 (GRCm39) |
E253G |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,496 (GRCm39) |
R305G |
probably benign |
Het |
| Pde3b |
T |
A |
7: 114,105,425 (GRCm39) |
H452Q |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,462,321 (GRCm39) |
M2078V |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,593,658 (GRCm39) |
D1485G |
probably damaging |
Het |
| Pkhd1l1 |
A |
C |
15: 44,404,363 (GRCm39) |
T2331P |
probably damaging |
Het |
| Plk5 |
G |
A |
10: 80,198,942 (GRCm39) |
G433E |
probably damaging |
Het |
| Pnliprp2 |
T |
A |
19: 58,748,232 (GRCm39) |
D4E |
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,570,839 (GRCm39) |
D474G |
probably damaging |
Het |
| Psmc1 |
A |
G |
12: 100,086,359 (GRCm39) |
N332S |
probably damaging |
Het |
| Rad9a |
G |
C |
19: 4,251,517 (GRCm39) |
|
probably null |
Het |
| Slf1 |
A |
G |
13: 77,240,490 (GRCm39) |
V396A |
probably benign |
Het |
| Stat6 |
G |
A |
10: 127,488,182 (GRCm39) |
R312K |
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,948,629 (GRCm39) |
V174E |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,926,892 (GRCm39) |
V878A |
probably benign |
Het |
| Ube4b |
A |
T |
4: 149,421,881 (GRCm39) |
H969Q |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,155,802 (GRCm39) |
I2209T |
probably damaging |
Het |
| Ulk2 |
A |
C |
11: 61,725,740 (GRCm39) |
L112R |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,028,684 (GRCm39) |
Y101H |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,921,117 (GRCm39) |
L617P |
probably damaging |
Het |
|
| Other mutations in Dqx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01796:Dqx1
|
APN |
6 |
83,043,408 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02158:Dqx1
|
APN |
6 |
83,035,891 (GRCm39) |
splice site |
probably benign |
|
|
IGL02288:Dqx1
|
APN |
6 |
83,037,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02801:Dqx1
|
APN |
6 |
83,037,476 (GRCm39) |
splice site |
probably null |
|
|
IGL02929:Dqx1
|
APN |
6 |
83,037,465 (GRCm39) |
unclassified |
probably benign |
|
|
R0396:Dqx1
|
UTSW |
6 |
83,035,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0448:Dqx1
|
UTSW |
6 |
83,037,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Dqx1
|
UTSW |
6 |
83,036,407 (GRCm39) |
splice site |
probably benign |
|
|
R1022:Dqx1
|
UTSW |
6 |
83,038,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1023:Dqx1
|
UTSW |
6 |
83,038,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Dqx1
|
UTSW |
6 |
83,038,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Dqx1
|
UTSW |
6 |
83,036,433 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1804:Dqx1
|
UTSW |
6 |
83,037,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Dqx1
|
UTSW |
6 |
83,043,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Dqx1
|
UTSW |
6 |
83,035,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Dqx1
|
UTSW |
6 |
83,035,524 (GRCm39) |
unclassified |
probably benign |
|
|
R2350:Dqx1
|
UTSW |
6 |
83,036,068 (GRCm39) |
nonsense |
probably null |
|
|
R3110:Dqx1
|
UTSW |
6 |
83,035,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3112:Dqx1
|
UTSW |
6 |
83,035,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3119:Dqx1
|
UTSW |
6 |
83,043,216 (GRCm39) |
nonsense |
probably null |
|
|
R4179:Dqx1
|
UTSW |
6 |
83,036,460 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4180:Dqx1
|
UTSW |
6 |
83,036,460 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4873:Dqx1
|
UTSW |
6 |
83,037,993 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4875:Dqx1
|
UTSW |
6 |
83,037,993 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4882:Dqx1
|
UTSW |
6 |
83,043,069 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5015:Dqx1
|
UTSW |
6 |
83,043,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5128:Dqx1
|
UTSW |
6 |
83,037,548 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5480:Dqx1
|
UTSW |
6 |
83,041,784 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6939:Dqx1
|
UTSW |
6 |
83,036,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6979:Dqx1
|
UTSW |
6 |
83,037,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Dqx1
|
UTSW |
6 |
83,041,790 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7084:Dqx1
|
UTSW |
6 |
83,043,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7354:Dqx1
|
UTSW |
6 |
83,037,957 (GRCm39) |
nonsense |
probably null |
|
|
R7389:Dqx1
|
UTSW |
6 |
83,041,775 (GRCm39) |
missense |
probably null |
0.99 |
|
R7497:Dqx1
|
UTSW |
6 |
83,036,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Dqx1
|
UTSW |
6 |
83,036,680 (GRCm39) |
missense |
probably benign |
|
|
R7762:Dqx1
|
UTSW |
6 |
83,038,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8002:Dqx1
|
UTSW |
6 |
83,035,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8036:Dqx1
|
UTSW |
6 |
83,036,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8147:Dqx1
|
UTSW |
6 |
83,037,222 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8776:Dqx1
|
UTSW |
6 |
83,035,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8776-TAIL:Dqx1
|
UTSW |
6 |
83,035,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9090:Dqx1
|
UTSW |
6 |
83,036,024 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9139:Dqx1
|
UTSW |
6 |
83,036,759 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9271:Dqx1
|
UTSW |
6 |
83,036,024 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGAGTGTGCTGATACTG -3'
(R):5'- AGATATGTTGCCTCTGGGACG -3'
Sequencing Primer
(F):5'- CAGTGGCCTCAGATTTACTACAGG -3'
(R):5'- TTGCCTCTGGGACGGGAAAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation