Incidental Mutation 'R0448:Dqx1'
ID |
39440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dqx1
|
Ensembl Gene |
ENSMUSG00000009145 |
Gene Name |
DEAQ RNA-dependent ATPase |
Synonyms |
2310066E11Rik |
MMRRC Submission |
038648-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R0448 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
83034825-83044299 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83037326 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 330
(S330P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077502]
[ENSMUST00000092618]
[ENSMUST00000204803]
|
AlphaFold |
Q924H9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077502
AA Change: S330P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000076708 Gene: ENSMUSG00000009145 AA Change: S330P
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: ENSMUST00000203123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203180
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203331
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203749
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203915
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204209
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204803
|
SMART Domains |
Protein: ENSMUSP00000144697 Gene: ENSMUSG00000009145
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: ENSMUST00000204761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204385
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204895
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204510
|
Meta Mutation Damage Score |
0.6125 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.1%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
A |
16: 20,218,687 (GRCm39) |
R232C |
probably damaging |
Het |
Adam9 |
A |
G |
8: 25,454,926 (GRCm39) |
S732P |
probably damaging |
Het |
Add2 |
G |
A |
6: 86,069,901 (GRCm39) |
V140I |
probably benign |
Het |
Ahi1 |
G |
A |
10: 20,847,974 (GRCm39) |
G461S |
probably damaging |
Het |
Aoc1l2 |
A |
T |
6: 48,909,991 (GRCm39) |
S643C |
probably damaging |
Het |
Arhgef7 |
A |
G |
8: 11,869,659 (GRCm39) |
T432A |
possibly damaging |
Het |
Arsi |
T |
C |
18: 61,050,374 (GRCm39) |
I419T |
probably damaging |
Het |
Brca1 |
G |
A |
11: 101,399,047 (GRCm39) |
P1515L |
possibly damaging |
Het |
Brcc3 |
T |
A |
X: 74,493,647 (GRCm39) |
L222* |
probably null |
Het |
Brpf3 |
A |
T |
17: 29,025,010 (GRCm39) |
T28S |
probably benign |
Het |
Cdc20b |
T |
A |
13: 113,215,191 (GRCm39) |
V253E |
probably damaging |
Het |
Cnot6l |
T |
A |
5: 96,227,905 (GRCm39) |
S443C |
probably benign |
Het |
Copg1 |
G |
A |
6: 87,881,908 (GRCm39) |
A587T |
probably benign |
Het |
Crebrf |
A |
G |
17: 26,962,076 (GRCm39) |
D391G |
probably benign |
Het |
Crocc |
A |
T |
4: 140,769,502 (GRCm39) |
D283E |
probably damaging |
Het |
Cryga |
T |
C |
1: 65,142,318 (GRCm39) |
N25S |
probably benign |
Het |
Csnk1g1 |
T |
C |
9: 65,888,230 (GRCm39) |
F90L |
possibly damaging |
Het |
Cyp2j6 |
A |
G |
4: 96,433,965 (GRCm39) |
V115A |
probably benign |
Het |
Cyp3a11 |
T |
C |
5: 145,799,204 (GRCm39) |
I328V |
probably benign |
Het |
Dchs1 |
C |
A |
7: 105,415,134 (GRCm39) |
E683D |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,809,539 (GRCm39) |
|
probably benign |
Het |
Epg5 |
A |
G |
18: 78,066,580 (GRCm39) |
Y2160C |
probably damaging |
Het |
Ercc5 |
T |
C |
1: 44,213,100 (GRCm39) |
L742P |
probably damaging |
Het |
Fcgbpl1 |
T |
C |
7: 27,839,660 (GRCm39) |
I491T |
probably benign |
Het |
Flt1 |
C |
T |
5: 147,503,204 (GRCm39) |
|
probably benign |
Het |
Grip2 |
A |
G |
6: 91,756,194 (GRCm39) |
S498P |
probably damaging |
Het |
H2-T22 |
A |
G |
17: 36,353,278 (GRCm39) |
L14P |
possibly damaging |
Het |
Hephl1 |
C |
T |
9: 14,988,222 (GRCm39) |
G629S |
probably damaging |
Het |
Hsdl2 |
T |
A |
4: 59,606,523 (GRCm39) |
M162K |
unknown |
Het |
Kcnh8 |
C |
A |
17: 53,284,648 (GRCm39) |
|
probably null |
Het |
Krt76 |
T |
C |
15: 101,799,082 (GRCm39) |
Q201R |
probably damaging |
Het |
Lrpprc |
A |
T |
17: 85,078,322 (GRCm39) |
Y319N |
probably benign |
Het |
Lrrk2 |
T |
G |
15: 91,593,508 (GRCm39) |
I489R |
probably damaging |
Het |
Mboat1 |
G |
T |
13: 30,386,393 (GRCm39) |
D136Y |
probably damaging |
Het |
Mcmdc2 |
T |
C |
1: 10,010,767 (GRCm39) |
*682Q |
probably null |
Het |
Msx2 |
C |
A |
13: 53,622,431 (GRCm39) |
R193L |
probably damaging |
Het |
Nfatc4 |
T |
G |
14: 56,069,111 (GRCm39) |
D625E |
possibly damaging |
Het |
Nup153 |
T |
C |
13: 46,870,657 (GRCm39) |
E86G |
probably benign |
Het |
Or2g7 |
G |
T |
17: 38,378,563 (GRCm39) |
R167L |
probably benign |
Het |
Or4k45 |
T |
A |
2: 111,395,559 (GRCm39) |
I77F |
probably benign |
Het |
Pard3b |
T |
C |
1: 62,205,628 (GRCm39) |
L474P |
probably damaging |
Het |
Pate11 |
T |
A |
9: 36,388,412 (GRCm39) |
M79K |
probably benign |
Het |
Pggt1b |
A |
T |
18: 46,396,039 (GRCm39) |
|
probably benign |
Het |
Pik3r2 |
A |
G |
8: 71,224,688 (GRCm39) |
|
probably benign |
Het |
Prr14 |
A |
G |
7: 127,073,898 (GRCm39) |
|
probably benign |
Het |
Rcbtb2 |
T |
C |
14: 73,415,869 (GRCm39) |
|
probably benign |
Het |
Rufy2 |
G |
A |
10: 62,840,515 (GRCm39) |
D429N |
probably benign |
Het |
S1pr5 |
T |
A |
9: 21,155,503 (GRCm39) |
T308S |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,354 (GRCm39) |
S93P |
probably benign |
Het |
Serpinb1b |
T |
G |
13: 33,273,675 (GRCm39) |
H123Q |
probably benign |
Het |
Sftpc |
C |
T |
14: 70,760,120 (GRCm39) |
V46I |
probably benign |
Het |
Skint8 |
T |
A |
4: 111,794,087 (GRCm39) |
V159D |
probably damaging |
Het |
Slc25a11 |
T |
C |
11: 70,536,405 (GRCm39) |
N134S |
probably benign |
Het |
Slc25a24 |
T |
C |
3: 109,064,332 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
C |
G |
9: 41,915,384 (GRCm39) |
V1282L |
probably damaging |
Het |
Sptan1 |
T |
A |
2: 29,916,822 (GRCm39) |
I2170N |
probably damaging |
Het |
Syne4 |
A |
G |
7: 30,014,345 (GRCm39) |
|
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tg |
C |
A |
15: 66,636,291 (GRCm39) |
P626Q |
probably damaging |
Het |
Thoc6 |
T |
A |
17: 23,888,550 (GRCm39) |
D196V |
probably damaging |
Het |
Tpi1 |
A |
G |
6: 124,791,066 (GRCm39) |
F57S |
probably damaging |
Het |
Tril |
A |
G |
6: 53,794,793 (GRCm39) |
*810Q |
probably null |
Het |
Trrap |
T |
A |
5: 144,776,377 (GRCm39) |
V2972D |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,591,624 (GRCm39) |
V12688E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,551,283 (GRCm39) |
M31370V |
probably damaging |
Het |
Txndc11 |
A |
G |
16: 10,909,625 (GRCm39) |
F307S |
probably damaging |
Het |
Vmn1r40 |
C |
T |
6: 89,691,642 (GRCm39) |
S153L |
probably benign |
Het |
Vmn2r95 |
A |
G |
17: 18,672,005 (GRCm39) |
T581A |
possibly damaging |
Het |
Wdtc1 |
A |
G |
4: 133,024,811 (GRCm39) |
F462S |
probably damaging |
Het |
Zfp101 |
A |
G |
17: 33,601,295 (GRCm39) |
S154P |
possibly damaging |
Het |
Zmym6 |
A |
G |
4: 127,002,487 (GRCm39) |
N481D |
probably benign |
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 |
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 |
R5346:Dqx1
|
UTSW |
6 |
83,036,700 (GRCm39) |
missense |
possibly damaging |
0.87 |
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'- TTCCCGTCCCAGAGGCAACATATC -3'
(R):5'- GATTGTAAACCTGTCATCCAGCCCC -3'
Sequencing Primer
(F):5'- gccttagctttcatcagtttgtc -3'
(R):5'- TCCAGCCCCCAGACAAGG -3'
|
Posted On |
2013-05-23 |