Incidental Mutation 'R7389:Dqx1'
| ID |
573304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dqx1
|
| Ensembl Gene |
ENSMUSG00000009145 |
| Gene Name |
DEAQ RNA-dependent ATPase |
| Synonyms |
2310066E11Rik |
| MMRRC Submission |
045471-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R7389 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83034825-83044299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83041775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 539
(S539I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076708
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077502]
[ENSMUST00000089641]
[ENSMUST00000174674]
[ENSMUST00000204803]
|
| AlphaFold |
Q924H9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000077502
AA Change: S539I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
AA Change: S539I
| 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: ENSMUST00000089641
|
| SMART Domains |
Protein: ENSMUSP00000087069
Gene: ENSMUSG00000068327
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
116 |
N/A |
INTRINSIC |
|
HOX
|
157 |
219 |
1.66e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174674
|
| SMART Domains |
Protein: ENSMUSP00000133420
Gene: ENSMUSG00000068327
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
116 |
N/A |
INTRINSIC |
|
HOX
|
157 |
213 |
2.43e-16 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa11 |
C |
A |
14: 25,873,312 (GRCm39) |
P182Q |
probably damaging |
Het |
| Asns |
C |
A |
6: 7,689,291 (GRCm39) |
L70F |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,017,529 (GRCm39) |
K445N |
probably benign |
Het |
| Cyp2c50 |
G |
T |
19: 40,079,107 (GRCm39) |
R150L |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
T |
C |
16: 63,593,347 (GRCm39) |
E247G |
probably damaging |
Het |
| Etl4 |
C |
T |
2: 20,789,904 (GRCm39) |
Q801* |
probably null |
Het |
| Fabp2 |
G |
T |
3: 122,689,014 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,819,140 (GRCm39) |
V4958I |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
| Hdgfl2 |
T |
G |
17: 56,406,389 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
T |
C |
1: 135,894,785 (GRCm39) |
D1927G |
probably benign |
Het |
| Ino80 |
A |
C |
2: 119,273,010 (GRCm39) |
S489A |
probably benign |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lrriq3 |
A |
G |
3: 154,893,741 (GRCm39) |
T481A |
probably benign |
Het |
| Map2k3 |
A |
T |
11: 60,822,862 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,717,638 (GRCm39) |
T617A |
probably benign |
Het |
| Mybpc2 |
T |
G |
7: 44,155,028 (GRCm39) |
T960P |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,257,049 (GRCm39) |
N150S |
possibly damaging |
Het |
| Nup153 |
A |
T |
13: 46,854,463 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
G |
11: 58,927,226 (GRCm39) |
L5498P |
probably benign |
Het |
| Or5b21 |
G |
T |
19: 12,839,981 (GRCm39) |
V281L |
probably benign |
Het |
| Or5v1b |
A |
G |
17: 37,841,548 (GRCm39) |
R227G |
possibly damaging |
Het |
| Paqr8 |
C |
A |
1: 21,005,389 (GRCm39) |
P181Q |
probably damaging |
Het |
| Pcdhgb4 |
T |
C |
18: 37,855,416 (GRCm39) |
Y604H |
probably damaging |
Het |
| Pja2 |
T |
A |
17: 64,604,722 (GRCm39) |
E487V |
probably damaging |
Het |
| Pnpla6 |
C |
T |
8: 3,593,981 (GRCm39) |
R1331* |
probably null |
Het |
| Ppl |
T |
A |
16: 4,924,577 (GRCm39) |
|
probably null |
Het |
| Rhbdl3 |
T |
A |
11: 80,237,665 (GRCm39) |
M299K |
possibly damaging |
Het |
| Scart1 |
A |
G |
7: 139,808,704 (GRCm39) |
K872E |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,696,986 (GRCm39) |
*791W |
probably null |
Het |
| Slc7a2 |
A |
G |
8: 41,365,552 (GRCm39) |
Y461C |
probably benign |
Het |
| Sptb |
G |
T |
12: 76,671,003 (GRCm39) |
Q447K |
probably damaging |
Het |
| Ssh1 |
A |
T |
5: 114,096,892 (GRCm39) |
I205N |
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,869,196 (GRCm39) |
V1511I |
probably benign |
Het |
| Tex19.1 |
T |
C |
11: 121,037,986 (GRCm39) |
W115R |
possibly damaging |
Het |
| Tinf2 |
G |
T |
14: 55,918,167 (GRCm39) |
|
probably null |
Het |
| Tmeff1 |
A |
G |
4: 48,617,097 (GRCm39) |
|
probably null |
Het |
| Tnip2 |
G |
T |
5: 34,671,145 (GRCm39) |
Q33K |
probably benign |
Het |
| Traf3 |
C |
A |
12: 111,204,187 (GRCm39) |
L59M |
probably damaging |
Het |
| Trav14d-3-dv8 |
T |
C |
14: 53,316,328 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Trim11 |
C |
T |
11: 58,881,481 (GRCm39) |
S458L |
probably damaging |
Het |
| Tspan18 |
A |
T |
2: 93,040,272 (GRCm39) |
V161E |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,038,304 (GRCm39) |
V928E |
probably benign |
Het |
| Usp29 |
G |
A |
7: 6,966,457 (GRCm39) |
V767I |
possibly damaging |
Het |
| Usp34 |
T |
G |
11: 23,295,200 (GRCm39) |
F287L |
|
Het |
| Vmn1r213 |
T |
C |
13: 23,196,556 (GRCm39) |
C380R |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,550,515 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AGACGGTGATCACAGCTCTC -3'
(R):5'- TCTCCCCAACCTTGAGGAAGTATC -3'
Sequencing Primer
(F):5'- AGCTCTCTGATCCAGGTCTATGAAG -3'
(R):5'- GAAGTATCCTGACAGCAGTGCTTTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation